P02545
PR
Gene name |
LMNA (LMN1) |
Protein name |
Prelamin-A/C |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4000 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
23 structures for P02545
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1IFR | X-ray | 140 A | A | 436-552 | PDB |
| 1IVT | NMR | - | A | 428-549 | PDB |
| 1X8Y | X-ray | 220 A | A | 305-387 | PDB |
| 2XV5 | X-ray | 240 A | A/B | 328-398 | PDB |
| 2YPT | X-ray | 380 A | F/G/H/I | 661-664 | PDB |
| 3GEF | X-ray | 150 A | A/B/C/D | 436-552 | PDB |
| 3V4Q | X-ray | 306 A | A | 313-386 | PDB |
| 3V4W | X-ray | 370 A | A | 313-386 | PDB |
| 3V5B | X-ray | 300 A | A | 313-386 | PDB |
| 6GHD | X-ray | 210 A | B/F | 428-546 | PDB |
| 6JLB | X-ray | 321 A | A/B/C/D | 1-300 | PDB |
| 6RPR | X-ray | 226 A | B | 430-545 | PDB |
| 6SNZ | X-ray | 260 A | A/B/C/D | 65-222 | PDB |
| 6YF5 | X-ray | 183 A | A/B/C/D | 17-70 | PDB |
| 6YJD | X-ray | 290 A | A | 329-403 | PDB |
| 7CRG | X-ray | 180 A | A/B/C | 406-553 | PDB |
| 7D9N | X-ray | 370 A | A/B | 27-229 | PDB |
| 7WZZ | X-ray | 130 A | C | 490-498 | PDB |
| 7X1B | X-ray | 140 A | C | 490-497 | PDB |
| 7X5D | X-ray | 182 A | A/B | 244-339 | PDB |
| 7YVD | X-ray | 210 A | A/B/C | 421-552 | PDB |
| 7Z21 | X-ray | 163 A | E/F | 411-566 | PDB |
| AF-P02545-F1 | Predicted | AlphaFoldDB |
1015 variants for P02545
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000653926 RCV001268969 RCV000579197 RCV000678713 RCV001594399 RCV000236357 rs794728598 RCV002515313 RCV000182378 |
1 | M>I | Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinVar dbSNP |
|
CA342805855 RCV002343440 RCV000688289 rs1558115754 |
2 | E>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1235021953 RCV001181741 CA342805896 |
3 | T>N | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000818990 rs267607620 CA016863 RCV000057257 |
4 | P>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000793718 rs1572331707 |
5 | S>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207729 rs1649695841 |
5 | S>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001208820 rs1649696391 |
6 | Q>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000057350 RCV002286397 RCV000015564 rs61046466 CA017675 RCV000041328 |
6 | Q>* | Primary dilated cardiomyopathy Benign scapuloperoneal muscular dystrophy with cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000476932 rs751916168 RCV001181379 CA052022 RCV001823729 |
7 | R>Q | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001345496 rs1649697783 |
8 | R>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002445371 rs1329278578 RCV001072091 CA342806023 |
8 | R>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000622546 RCV000502816 RCV000015599 RCV000057387 CA017867 RCV000755005 rs57077886 VAR_039745 |
10 | T>I | Familial partial lipodystrophy, Dunnigan type Lipodystrophy Inborn genetic diseases Dilated cardiomyopathy 1A an atypical progeroid patient; diagnosed as Seip syndrome; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1649700040 RCV001313361 |
11 | R>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001170448 rs1649700208 |
13 | G>R | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001341373 CA053465 rs748918487 |
15 | Q>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000653903 rs1553261855 |
19 | T>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000626229 CA342807133 rs1553261858 |
20 | P>L | Congenital muscular dystrophy due to LMNA mutation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1649704361 RCV001090180 RCV002298871 |
21 | L>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1016767319 RCV001318123 RCV003147538 CA30999069 RCV002477648 RCV000712226 RCV001798969 |
22 | S>L | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002370101 VAR_076562 CA342807231 RCV000798982 rs1195524446 |
24 | T>S | Charcot-Marie-Tooth disease type 2 EDMD3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar TOPMed dbSNP UniProt |
|
rs1558115970 RCV000695793 |
25 | R>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs58327533 RCV000057450 RCV001049614 CA018538 RCV002381368 |
25 | R>C | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002381367 rs58327533 RCV001048135 CA018531 RCV000057449 VAR_039746 |
25 | R>G | Charcot-Marie-Tooth disease type 2 EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs61578124 RCV000236179 CA054268 RCV001182288 RCV001079756 RCV002392726 |
25 | R>L | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs61578124 CA018579 VAR_039747 RCV002513740 RCV000057454 |
25 | R>P | Charcot-Marie-Tooth disease type 2 EDMD2; mis-localized in the nucleus; causes nuclear deformations and LMNB1 redistribution [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA342807313 RCV000991275 rs863225270 |
27 | T>I | Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863225270 RCV002517317 CA279587 RCV000201884 |
27 | T>S | Paroxysmal familial ventricular fibrillation Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs59914820 CA358140 RCV000210645 |
28 | R>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000380269 CA10605120 rs886043109 RCV000809047 RCV002298563 |
28 | R>Q | Charcot-Marie-Tooth disease type 2 Benign scapuloperoneal muscular dystrophy with cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_039748 RCV000057473 rs59914820 RCV000653924 CA018743 |
28 | R>W | Charcot-Marie-Tooth disease type 2 FPLD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs1649709575 RCV001214508 |
31 | E>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs864309525 RCV000809807 RCV000202605 |
31 | E>missing | Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000695532 rs1228406418 CA342807397 |
31 | E>K | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000459386 RCV000015625 rs60872029 RCV000057490 |
32 | K>missing | Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000812291 CA342807427 rs1553261891 |
32 | K>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000785916 RCV000529491 rs1553261891 CA342807424 |
32 | K>E | Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_039749 | 32 | K>del | EDMD2; abnormal nuclear localization in a honeycomb expression pattern in about 11% of cultured skin fibroblasts from heterozygous patients; no effect on protein level [UniProt] | Yes | UniProt |
|
RCV000790002 CA018946 RCV001854179 RCV000057498 VAR_039750 CA018951 RCV000057497 rs57966821 |
33 | E>D | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 CMT2; autosomal dominant form [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002513742 rs267607614 VAR_039751 RCV000057495 CA018931 |
33 | E>G | Charcot-Marie-Tooth disease type 2 EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001231384 rs267607644 RCV000499410 RCV000057221 CA016503 |
35 | L>P | Charcot-Marie-Tooth disease type 2 Muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016462 RCV000057217 VAR_039752 rs56694480 |
35 | L>V | EDMD2 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001179396 CA342807590 RCV001855271 rs1354642495 RCV000622121 |
37 | E>K | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA342807647 rs1558116084 RCV000680034 |
38 | L>H | Congenital muscular dystrophy due to LMNA mutation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001204509 rs267607627 |
39 | N>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000804081 rs57983345 CA342807683 |
39 | N>I | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000557302 RCV000057252 RCV003137595 CA016815 VAR_063588 rs57983345 |
39 | N>S | Benign scapuloperoneal muscular dystrophy with cardiomyopathy Charcot-Marie-Tooth disease type 2 MDCL and EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000994129 CA16609885 rs1060502215 RCV000457713 |
41 | R>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000518408 CA342807753 rs1060502215 RCV000653844 |
41 | R>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000803355 rs1572332164 CA342807733 RCV003133634 |
41 | R>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs60446065 VAR_039753 CA016942 RCV001225020 RCV000057262 |
43 | A>T | Charcot-Marie-Tooth disease type 2 EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1057518971 RCV000415420 RCV001861451 CA16043361 |
44 | V>F | Congenital muscular dystrophy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000692072 CA017029 RCV000057272 VAR_009971 rs58436778 RCV002468560 |
45 | Y>C | Variant assessed as Somatic; impact. Charcot-Marie-Tooth disease type 2 Benign scapuloperoneal muscular dystrophy with cardiomyopathy EDMD2 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001823197 RCV001328735 rs1649714371 |
45 | Y>H | Congenital muscular dystrophy due to LMNA mutation Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001058402 rs267607615 |
46 | I>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060502213 CA16609881 RCV000463697 |
46 | I>N | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001230439 rs267607615 RCV000057281 CA017105 |
46 | I>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1649715628 RCV001182106 |
47 | D>E | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA017185 RCV000057290 RCV001319873 rs267607608 |
47 | D>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000811094 rs1572332235 CA342807945 |
48 | R>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000800232 CA342807944 rs1572332235 |
48 | R>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001233815 CA050485 rs60695352 RCV000621982 |
50 | R>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001044757 RCV000364250 CA10603912 rs60695352 |
50 | R>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000057314 rs60695352 VAR_009972 CA017377 |
50 | R>P | EDMD2 and MDCL [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_039754 CA017339 RCV000057309 rs59931416 |
50 | R>S | EDMD2 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1366035491 RCV001341510 |
51 | S>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001233158 RCV001815027 rs1649717627 |
51 | S>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA017415 rs397517895 RCV000041321 |
52 | L>V | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000488077 RCV000816556 rs60290646 CA16621576 |
53 | E>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002479941 RCV000237062 RCV001176604 rs879253992 CA10584111 RCV000653891 |
54 | T>M | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001211199 rs1649719689 |
55 | E>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001235427 RCV000236051 rs879253932 |
56 | N>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000015600 VAR_017656 rs28928903 CA017669 RCV000057349 |
57 | A>P | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome CMDHH; phenotype originally designated as atypical Werner syndrome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000015627 CA017717 RCV000057357 rs58922911 VAR_064055 |
59 | L>R | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome CMDHH [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA017729 rs28928900 RCV000768709 RCV000156772 RCV001206073 |
60 | R>C | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA017722 VAR_034706 rs28928900 RCV000057359 RCV000015566 RCV000015567 |
60 | R>G | Familial partial lipodystrophy, Dunnigan type Dilated cardiomyopathy 1A CMD1A and FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000653850 rs1553261932 CA342808105 |
61 | L>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs56793579 CA500017 RCV000691484 |
62 | R>C | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000057365 VAR_039755 RCV000503031 CA017741 RCV001051802 RCV000780387 rs56793579 |
62 | R>G | Familial partial lipodystrophy, Dunnigan type Cardiomyopathy Charcot-Marie-Tooth disease type 2 FPLD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001247423 rs1649721643 |
62 | R>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA30999173 RCV001367762 RCV002499650 RCV001330500 rs899373360 RCV001823769 |
63 | I>L | Hutchinson-Gilford syndrome Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
VAR_039756 CA017746 RCV000057368 rs57793737 |
63 | I>N | EDMD2 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_009974 RCV000057369 rs57793737 CA017762 |
63 | I>S | EDMD2; no effect on protein level; no obvious effect on nuclear morphology in cultured skin fibroblasts from heterozygous patients [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000821015 rs753191587 CA051960 RCV002408979 |
64 | T>N | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_039757 | 65 | E>G | EDMD2 [UniProt] | Yes | UniProt |
|
RCV001253415 rs1168314722 |
65 | E>Q | Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001234658 rs1649724739 |
67 | E>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA342808213 rs1260675493 RCV001187535 |
68 | E>K | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1649725893 RCV001177272 |
69 | V>A | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1649726768 RCV001044761 |
71 | S>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA342808277 RCV000810112 rs17847247 |
72 | R>C | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA052051 rs727504340 RCV001186710 |
72 | R>H | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001059604 RCV000154457 RCV002426738 rs727504340 CA017782 |
72 | R>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001212067 rs1649727816 RCV001780125 |
73 | E>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002518434 rs879253975 CA10584113 RCV000236603 |
75 | S>F | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001170449 rs876657850 |
77 | I>N | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001044350 rs876657850 |
77 | I>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10576361 rs876657850 RCV001344429 RCV000222436 |
77 | I>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000216833 RCV001853458 CA10576362 rs876657851 COSM4142808 |
78 | K>E | thyroid Charcot-Marie-Tooth disease type 2 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA342808375 rs727505038 RCV000511737 RCV000156465 CA017788 |
78 | K>N | Variant assessed as Somatic; impact. Arrhythmogenic right ventricular dysplasia 9 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP NCI-TCGA |
|
rs1553261972 CA342808384 RCV000653951 RCV000618926 |
79 | A>D | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001307670 rs1649729767 |
80 | A>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001351546 CA10584114 RCV000237077 rs879254319 |
81 | Y>C | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000653914 rs1553261977 CA342808404 RCV001289082 |
81 | Y>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs59270054 RCV000057380 RCV000156060 CA017794 RCV000457442 |
82 | E>K | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000653934 rs1553261982 |
84 | E>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA017807 RCV001852311 rs794728586 RCV000182351 |
84 | E>D | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs794728602 CA017800 RCV000758164 RCV000621704 COSM3802186 |
84 | E>K | Variant assessed as Somatic; impact. Primary dilated cardiomyopathy breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000225805 CA10581727 rs28933090 |
85 | L>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000057381 CA017813 rs28933090 RCV002453264 VAR_009975 RCV000015568 |
85 | L>R | Dilated cardiomyopathy 1A CMD1A; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000208508 rs869025455 CA352104 |
88 | A>G | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267607559 RCV001232305 |
89 | R>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_039758 RCV000462640 CA017839 RCV000057383 rs59040894 |
89 | R>L | Charcot-Marie-Tooth disease type 2 CMD1A; dramatically aberrant localization with almost no nuclear rim staining and formation of intranuclear foci [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1445068583 RCV002477647 RCV001225324 RCV000712224 CA342808531 |
90 | K>E | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002469339 CA342808559 RCV001066402 RCV002480424 rs1306829976 |
91 | T>I | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000057384 RCV002433553 rs267607560 RCV000627124 CA017846 VAR_067257 |
92 | L>F | Primary familial dilated cardiomyopathy CMD1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs267607560 RCV001170450 RCV001054035 |
92 | L>V | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000653853 RCV002477453 RCV001176892 rs1553262000 CA342808623 RCV003129973 |
96 | A>S | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000057385 CA017859 VAR_039759 rs59065411 |
97 | K>E | CMD1A [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA16609882 RCV001524820 RCV002489054 rs1060502216 RCV000472865 RCV000598315 RCV002436430 |
97 | K>T | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1441670218 RCV001862947 RCV002484024 CA342808654 RCV001187072 |
98 | E>G | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1572332762 RCV000845422 CA342808671 |
99 | R>P | Primary familial dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000301985 RCV000389042 RCV000342879 RCV000281871 RCV000294652 CA10607825 RCV000329877 rs886045364 RCV001096351 RCV000337024 RCV000371803 RCV000335629 RCV000497577 RCV000274541 |
99 | R>S | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Limb-Girdle Muscular Dystrophy, Recessive Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2B1 Hutchinson-Gilford syndrome Congenital muscular dystrophy due to LMNA mutation Lethal tight skin contracture syndrome Benign scapuloperoneal muscular dystrophy with cardiomyopathy Mandibuloacral dysplasia with type A lipodystrophy Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10606793 RCV000381724 rs886044468 RCV001053767 |
100 | A>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000297359 RCV001859718 rs267607568 CA10606776 |
101 | R>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000057388 VAR_070174 rs267607568 CA017873 |
101 | R>P | CMD1A; dramatically aberrant localization with almost no nuclear rim staining and formation of intranuclear foci [UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001376156 RCV003133407 rs1553262007 RCV000622678 CA342808708 |
102 | L>P | Benign scapuloperoneal muscular dystrophy with cardiomyopathy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001048172 RCV002505589 rs1649740041 |
109 | V>E | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000626177 RCV003106008 RCV001186690 rs556237236 CA052231 |
110 | R>H | Cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000182352 CA017891 RCV001852312 rs556237236 |
110 | R>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001184326 rs1064797121 CA16621577 RCV002525984 RCV000487579 |
110 | R>S | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs61726474 RCV000057391 RCV001854175 |
112 | E>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042591 rs794728587 |
112 | E>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553262031 RCV001860415 RCV001524889 RCV000623528 CA342808858 |
112 | E>K | Cardiomyopathy Primary familial dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_009976 | 112 | E>del | EDMD2 [UniProt] | Yes | UniProt |
|
RCV001508892 rs1649743062 RCV001320646 |
115 | E>K | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000182354 rs794728588 RCV000852405 RCV000707542 RCV000223737 CA017931 |
115 | E>V | Primary familial dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000041344 RCV000703206 rs267607646 RCV000057392 |
117 | K>missing | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001098091 RCV001098094 CA017949 RCV001099882 RCV001098093 RCV000041346 RCV001099881 RCV001182267 RCV002336155 RCV000324940 RCV001098090 RCV001098095 RCV000853426 rs397517901 RCV001007778 RCV001098096 RCV000653882 RCV001098092 |
117 | K>R | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Cardiomyopathy Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2B1 Congenital muscular dystrophy due to LMNA mutation Lethal tight skin contracture syndrome Benign scapuloperoneal muscular dystrophy with cardiomyopathy Familial partial lipodystrophy, Dunnigan type Hutchinson-Gilford syndrome Hypertrophic cardiomyopathy Mandibuloacral dysplasia with type A lipodystrophy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000459194 rs987482450 CA16609876 |
118 | A>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000208251 rs869025458 CA351885 |
119 | R>G | Conduction system disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1222398892 RCV001236150 |
122 | K>Q | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000182374 rs794728597 RCV001852313 RCV000208440 |
123 | K>missing | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1650969002 RCV001048957 |
124 | E>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_072817 rs267607605 CA018013 RCV001182171 RCV000057396 |
125 | G>S | Cardiomyopathy found in patients with atrial fibrillation; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000543428 RCV000208154 CA342815084 rs869025456 CA351809 |
126 | D>E | Charcot-Marie-Tooth disease type 2 Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs746475627 CA053305 RCV001189543 |
128 | I>T | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000774883 CA053312 rs768203943 |
129 | A>D | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001069327 rs1650973990 |
130 | A>D | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553264593 RCV000653933 CA342815144 |
131 | Q>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018044 RCV000015578 RCV000015577 VAR_016913 RCV000057399 RCV001387326 rs60864230 |
133 | R>L | Familial partial lipodystrophy, Dunnigan type Variant assessed as Somatic; impact. Charcot-Marie-Tooth disease type 2 Hutchinson-Gilford progeria syndrome, childhood-onset FPLD2 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_017657 RCV000057398 CA018038 RCV000686691 RCV000015602 rs60864230 |
133 | R>P | Charcot-Marie-Tooth disease type 2 Benign scapuloperoneal muscular dystrophy with cardiomyopathy EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA018032 RCV001096448 RCV001096449 RCV001098190 RCV002372114 RCV001098186 RCV000182356 RCV001098184 RCV001098187 RCV000204542 RCV001098189 RCV001098191 RCV001098188 RCV001098185 RCV001191911 rs60864230 |
133 | R>Q | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Familial partial lipodystrophy, Dunnigan type Cardiomyopathy Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy due to LMNA mutation Hutchinson-Gilford syndrome Charcot-Marie-Tooth disease type 2B1 Lethal tight skin contracture syndrome Mandibuloacral dysplasia with type A lipodystrophy Benign scapuloperoneal muscular dystrophy with cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001253095 RCV001064120 rs747998566 |
137 | L>V | Benign scapuloperoneal muscular dystrophy with cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267607649 VAR_070175 CA018066 RCV000057401 |
138 | E>K | HGPS; might be associated with early and severe strokes [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA018070 RCV000057402 VAR_039760 RCV001854176 rs60652225 |
140 | L>P | Charcot-Marie-Tooth disease type 2 EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA018076 RCV000015601 RCV000057403 VAR_017658 rs60652225 |
140 | L>R | Hutchinson-Gilford progeria syndrome, childhood-onset HGPS; phenotype originally designated as atypical Werner syndrome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000463883 CA16609884 rs1060502217 |
142 | N>D | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_034707 rs58912633 RCV000015604 CA018089 RCV000057405 |
143 | S>F | Congenital muscular dystrophy due to LMNA mutation HGPS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001387327 VAR_039761 rs61661343 RCV000057404 CA018081 RCV001258042 |
143 | S>P | Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A CMD1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1553264615 RCV000558114 |
144 | K>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA018095 RCV000015596 rs60310264 RCV000057406 VAR_017659 RCV000192009 |
145 | E>K | Hutchinson-Gilford syndrome Hutchinson-Gilford progeria syndrome, atypical HGPS; atypical [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs397517903 RCV000041348 RCV000206666 CA018101 |
146 | A>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001060974 CA342815415 rs139875047 RCV000493099 |
147 | A>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs139875047 CA053444 RCV001339043 |
147 | A>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs139875047 RCV001307001 CA053436 |
147 | A>T | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002327072 RCV000208276 rs58917027 CA088193 RCV000611547 RCV000536399 |
150 | T>A | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_039762 rs58917027 RCV000041350 RCV001852841 RCV000057407 RCV001265661 CA018114 |
150 | T>P | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Inborn genetic diseases EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1553264624 RCV000501769 |
155 | K>S | Muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002336451 rs760743233 CA018121 RCV001345820 RCV002485202 |
156 | R>C | Variant assessed as Somatic; 0.0 impact. Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA053530 rs754097769 RCV001342901 RCV002341704 |
157 | T>M | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000237080 RCV002338769 CA10584119 rs754097769 RCV001054521 |
157 | T>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs876657650 RCV000223332 |
159 | E>missing | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000984808 CA342815562 rs267607622 RCV001068018 |
159 | E>* | Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs28933093 CA018140 RCV000687241 VAR_017660 RCV000015598 RCV000211788 RCV000057409 RCV001170451 |
161 | E>K | Cardiomyopathy Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A CMD1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA018144 RCV000041352 rs267607594 RCV000057410 |
162 | L>P | Variant assessed as Somatic; impact. Primary dilated cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001183323 CA342815627 RCV000698675 rs1558126350 |
163 | H>Q | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1650987918 RCV001180909 |
163 | H>R | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001216606 rs1650988739 |
164 | D>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751033102 RCV001207007 |
164 | D>Y | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000620401 rs267607570 RCV000503619 RCV000057411 RCV000556738 VAR_070176 CA018166 |
166 | R>P | Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A CMD1A; dramatically aberrant localization with almost no nuclear rim staining and formation of intranuclear foci [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs267607570 RCV002505147 RCV000771896 RCV000653861 CA018161 RCV000150939 RCV000732765 RCV002336298 |
166 | R>Q | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002499247 RCV002334317 CA053599 RCV000695871 rs370200334 |
166 | R>W | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002519832 CA053619 RCV000235521 rs747771347 |
168 | Q>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001175665 RCV001307722 rs1650991296 RCV002491493 |
171 | K>E | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001059707 rs267607542 |
171 | K>N | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002348638 RCV001863029 RCV001191015 CA053703 rs762153472 |
174 | A>E | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001178002 rs1651339300 |
179 | A>D | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003117843 RCV001200924 rs1651341099 |
184 | Q>* | Autosomal recessive limb-girdle muscular dystrophy type 2B Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000789002 rs1572358674 |
185 | D>missing | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1651341345 RCV001176474 |
185 | D>V | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_064962 CA018239 rs267607643 |
189 | R>P | EDMD2; found also in a patient with limb-girdle muscular dystrophy; sporadic [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV002480327 RCV001184318 RCV000426904 RCV001594396 RCV001865396 rs766856162 CA053745 |
189 | R>Q | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA014940 RCV002477186 RCV002345365 RCV000794744 RCV000057417 rs267607626 RCV001775077 RCV000148603 RCV001177403 |
189 | R>W | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1472743 RCV000057421 RCV000653887 RCV001449792 rs267607571 CA018251 RCV000768712 RCV000619042 VAR_039763 |
190 | R>Q | Cardiomyopathy Variant assessed as Somatic; impact. Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 breast EDMD2 and CMD1A; aberrant localization with decreased nuclear rim staining and increased formation of intranuclear foci [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD |
| VAR_064963 | 190 | R>RR | EDMD2 [UniProt] | Yes | UniProt |
|
RCV000491585 RCV000619878 RCV000535082 rs59026483 VAR_039764 CA018245 RCV000057419 |
190 | R>W | Dilated cardiomyopathy 1S Charcot-Marie-Tooth disease type 2 CMD1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001172627 CA053759 rs752087253 RCV001799041 |
191 | V>G | Cardiomyopathy Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001174243 CA10584121 RCV001705303 rs879253896 |
191 | V>M | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs57045855 CA018258 VAR_039765 RCV000057422 RCV001221401 |
192 | D>G | Charcot-Marie-Tooth disease type 2 CMD1A; dramatically increases the size of intranuclear speckles and reduces their number; this phenotype is only partially reversed by coexpression of the G-192 mutation and wild-type lamin-C; precludes insertion of lamin-C into the nuclear envelope when co-transfected with the G-192 LMNA; G-192 lamin-C expression totally disrupts the SUMO1 pattern [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs57045855 RCV003152678 CA018263 RCV000057423 |
192 | D>V | Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001172617 rs1651346681 |
195 | N>H | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_009977 RCV000057424 RCV000211789 RCV000015572 RCV000794743 rs28933091 CA018269 RCV000057425 CA018275 |
195 | N>K | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A CMD1A; dramatically aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; distribution of endogenous LMNA, LMNB1 and LMNB2 are altered in cells expressing this mutant; causes an increased loss of endogenous EMD from the nuclear envelope; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
rs267607541 RCV000057426 VAR_039766 |
196 | R>S | EDMD2 [UniProt] | Yes |
ClinVar dbSNP UniProt |
|
rs1651348222 RCV001208397 |
197 | L>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572358821 RCV000825597 CA913189049 |
197 | L>T* | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000549843 CA342816989 rs1553265165 |
198 | Q>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA053826 RCV000794088 rs777419380 |
200 | M>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1572358860 RCV000805149 CA342817012 |
201 | K>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000211791 rs28933092 RCV000057428 CA018298 VAR_009978 RCV000015573 |
203 | E>G | Primary dilated cardiomyopathy Dilated cardiomyopathy 1A CMD1A; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type; decreased sumoylation; aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; associated with increased cell death [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA018303 RCV000057429 rs28933092 RCV002513739 |
203 | E>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060502210 RCV000460325 |
203 | E>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001824588 RCV000057427 VAR_039767 RCV000618699 RCV000055999 RCV000211790 rs61195471 RCV000653912 CA018291 |
203 | E>K | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A CMD1A; decreased sumoylation; aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; associated with increased cell death [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001071612 rs1651352665 |
204 | L>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000627143 rs1553265180 CA342817033 |
204 | L>Q | Primary familial dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA342817035 rs1553265180 RCV000623152 |
204 | L>R | Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000618027 CA342817031 RCV002483720 RCV001067181 rs1553265177 RCV001185566 RCV002223883 |
204 | L>V | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001320776 rs1651353565 |
205 | D>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002354249 CA342817050 VAR_064964 RCV002535769 rs267607629 RCV000057431 CA018318 RCV000694277 RCV000788205 |
206 | F>L | Charcot-Marie-Tooth disease type 2 EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
rs267607540 RCV000057433 RCV000015588 |
208 | K>missing | Benign scapuloperoneal muscular dystrophy with cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002265013 CA053839 rs770744765 RCV001234277 |
208 | K>Q | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_034708 | 208 | K>del | EDMD2; no obvious effect on nuclear morphology in cultured skin fibroblasts from heterozygous patients; no effect on protein level [UniProt] | Yes | UniProt |
|
RCV000041357 VAR_070177 rs267607572 CA018335 RCV000057435 |
210 | I>S | CMD1A; dramatically aberrant localization with almost no nuclear rim staining and increased formation of intranuclear foci [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001170452 RCV001175610 RCV002355132 RCV003132248 rs987157491 RCV001301048 CA31011025 |
211 | Y>C | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000057438 rs61295588 RCV000056000 RCV001382394 VAR_039768 RCV002362688 CA018372 |
215 | L>P | Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A CMD1A; aberrant localization with decreased nuclear rim staining and formation of intranuclear foci [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1651388987 RCV001325240 |
216 | R>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001778774 RCV000725540 RCV000528116 rs794728591 CA018379 RCV000208531 RCV000182360 RCV000241819 |
216 | R>C | Variant assessed as Somatic; 0.0 impact. Primary dilated cardiomyopathy Primary familial dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001775091 RCV002354479 rs757041809 RCV001172621 RCV000732408 CA018387 RCV002478615 RCV000474813 RCV000778039 |
216 | R>H | Cardiomyopathy Charcot-Marie-Tooth disease Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000800454 rs370134870 RCV001179387 RCV000247356 CA054046 RCV000594818 |
220 | R>C | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002365743 CA054066 RCV002462304 RCV001181352 RCV001062157 rs780066296 |
220 | R>H | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA351829 rs869025457 RCV001699011 RCV002515545 RCV000208174 |
221 | R>C | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001222732 RCV002366000 rs372567202 CA054078 RCV003132287 |
221 | R>H | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA018421 rs58034145 VAR_039769 RCV000057441 |
222 | H>P | EDMD2 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_009979 RCV000015583 RCV002286398 RCV000057440 CA018412 rs28928901 |
222 | H>Y | Emery-Dreifuss muscular dystrophy 3, autosomal recessive Benign scapuloperoneal muscular dystrophy with cardiomyopathy EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA347041 RCV000192010 rs797044485 |
223 | E>K | Hutchinson-Gilford syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001224799 RCV001775158 rs1651393059 |
224 | T>I | Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002362662 RCV000056001 RCV000211792 RCV000194831 RCV000464494 rs60682848 RCV000057442 RCV001170453 CA018429 |
225 | R>* | Cardiomyopathy Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Benign scapuloperoneal muscular dystrophy with cardiomyopathy Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199474724 RCV000190400 RCV001781340 CA018437 RCV000034134 RCV001814022 RCV001384595 RCV001178806 VAR_067697 |
225 | R>Q | Emery-Dreifuss muscular dystrophy 3, autosomal recessive Cardiomyopathy Benign scapuloperoneal muscular dystrophy with cardiomyopathy Charcot-Marie-Tooth disease type 2 EDMD3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000156919 RCV003152686 RCV001525549 rs727505357 CA018453 RCV000538272 |
229 | I>T | Familial partial lipodystrophy, Dunnigan type Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000015615 VAR_039770 RCV000057443 CA018460 rs61214927 |
230 | D>N | Familial partial lipodystrophy, Dunnigan type FPLD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001760011 rs760388350 RCV002374941 RCV001199337 RCV001058570 CA054103 RCV002482029 RCV001191296 |
231 | N>S | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000201054 rs57207746 RCV001052813 RCV000057445 VAR_039771 CA018472 |
232 | G>E | Charcot-Marie-Tooth disease type 2 Benign scapuloperoneal muscular dystrophy with cardiomyopathy EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs267607609 RCV000057444 CA10605004 RCV002521931 CA018465 RCV001535783 RCV001038356 RCV000519005 |
232 | G>R | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000653900 RCV000618154 CA018478 rs267607573 RCV000041360 RCV000057446 |
234 | Q>* | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000690758 CA342817228 rs1558129394 |
234 | Q>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000474484 RCV000482181 rs759829161 CA054163 RCV001180110 |
235 | R>H | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000714585 rs201227908 CA342817229 |
235 | R>S | Congenital muscular dystrophy due to LMNA mutation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001206410 rs1651401067 |
236 | E>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA018485 RCV000157292 rs730880132 RCV002362839 |
237 | F>S | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000852406 rs1572359848 RCV002363199 |
238 | E>missing | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775964460 RCV002374448 RCV000299044 CA054189 RCV000701726 |
240 | R>W | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000041361 rs397517906 RCV000182361 RCV001174247 CA018498 RCV001258043 RCV001798224 RCV000801882 RCV000620828 RCV000157293 RCV000770763 |
242 | A>V | Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Charcot-Marie-Tooth disease Primary dilated cardiomyopathy Primary familial dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs753243743 RCV000685677 CA342817284 |
243 | D>E | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001220064 rs1572359925 |
243 | D>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1165819867 RCV000785172 CA342817279 |
243 | D>Y | Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000653919 rs1553265328 |
244 | A>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA342817289 rs1183097458 RCV000703175 |
244 | A>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000057448 CA018512 rs267607587 RCV001854177 |
246 | Q>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572359991 RCV000800239 |
247 | E>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034826 rs727504373 RCV001762334 RCV000154522 CA018524 |
247 | E>K | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_039772 rs58850446 CA018545 RCV002381369 RCV000057451 |
248 | L>P | EDMD2 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001319667 rs58850446 |
248 | L>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000818791 rs121912496 RCV000041362 CA018552 |
249 | R>G | Laminopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000548477 VAR_009980 RCV000496185 RCV001814042 RCV000057453 CA018567 rs59332535 RCV000201012 RCV000662104 RCV000501991 |
249 | R>Q | Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2 Benign scapuloperoneal muscular dystrophy with cardiomyopathy Muscular dystrophy Dilated cardiomyopathy 1A EDMD2; no obvious effect on nuclear morphology in cultured skin fibroblasts from heterozygous patients; no effect on protein level [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000814531 VAR_063589 CA018559 RCV000057452 RCV000201142 rs121912496 RCV000015621 |
249 | R>W | Congenital muscular dystrophy due to LMNA mutation Benign scapuloperoneal muscular dystrophy with cardiomyopathy Charcot-Marie-Tooth disease type 2 MDCL and EDMD2; mislocalized in the nucleus; causes nuclear deformations and LMNB1 redistribution [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1553265342 RCV000653857 CA658795529 |
249 | R>W | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001524414 RCV000824244 rs1572360042 COSM897117 CA342817316 |
250 | A>T | Cardiomyopathy endometrium Charcot-Marie-Tooth disease type 2 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002390179 RCV001100070 RCV001174245 rs397517907 RCV001100067 RCV001100063 RCV001098298 CA018573 RCV001102065 RCV001100066 RCV000237089 RCV000707020 RCV002490579 RCV000041363 RCV001100065 RCV001186222 RCV001100068 RCV001100064 RCV001100069 |
250 | A>V | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Cardiomyopathy Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2B1 Congenital muscular dystrophy due to LMNA mutation Lethal tight skin contracture syndrome Benign scapuloperoneal muscular dystrophy with cardiomyopathy Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease Hutchinson-Gilford syndrome Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Mandibuloacral dysplasia with type A lipodystrophy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1558129629 RCV002485692 RCV000696655 CA342817348 |
254 | D>E | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001313277 RCV002481732 rs1553265346 RCV000521265 CA342817343 RCV001179089 |
254 | D>N | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000041364 rs397517908 |
255 | Q>missing | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000057457 RCV000015605 CA018615 rs58048078 |
259 | Y>* | Benign scapuloperoneal muscular dystrophy with cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_076563 | 259 | Y>C | EDMD2 [UniProt] | Yes | UniProt |
|
RCV001216146 RCV000041365 RCV000057458 rs58978449 |
261 | K>missing | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_009981 | 261 | K>del | EDMD2 [UniProt] | Yes | UniProt |
|
rs397517909 RCV000041366 CA018633 |
262 | E>* | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001180180 rs1651415727 |
262 | E>L | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001181566 RCV002476374 rs750246389 CA342817408 RCV000622065 RCV003133403 RCV001301578 |
263 | L>M | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1553265371 RCV000653871 |
265 | K>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001102069 RCV001102067 RCV001102070 RCV001102072 RCV001096664 RCV001096663 RCV001102068 RCV001096662 rs1651418246 RCV001102071 RCV001102066 |
266 | T>A | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy Hutchinson-Gilford syndrome Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2B1 Lethal tight skin contracture syndrome Benign scapuloperoneal muscular dystrophy with cardiomyopathy Mandibuloacral dysplasia with type A lipodystrophy Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000057462 rs57048196 CA018664 VAR_039774 |
267 | Y>C | EDMD2 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000617680 RCV000041369 CA018657 RCV000057461 rs267607593 RCV002513583 |
267 | Y>H | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_064965 RCV000057463 CA018671 rs267607630 |
268 | S>P | EDMD2 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA342817445 rs1558129744 RCV001038075 RCV000734970 |
269 | A>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000236083 RCV001245118 rs879253920 CA10584122 |
270 | K>Q | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_064966 RCV000057471 rs267607641 CA018730 |
271 | L>P | EDMD2 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000503745 RCV001382395 CA342817513 COSM1983007 rs1553265433 |
278 | A>P | thyroid Charcot-Marie-Tooth disease type 2 Muscular dystrophy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001863151 rs1553265433 RCV001289083 |
278 | A>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001873571 rs1651446094 RCV001170454 |
279 | E>K | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553265436 RCV000500127 |
280 | R>missing | Muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002491319 CA342817552 RCV000617735 rs1553265438 |
282 | S>N | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000621498 rs765241364 CA054539 RCV000733487 RCV001187553 RCV001172626 RCV000701219 RCV002506508 |
283 | N>S | Cardiomyopathy Charcot-Marie-Tooth disease Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002250618 RCV000693559 RCV000390988 rs886043260 CA10605303 |
284 | L>P | Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002483624 RCV000593400 rs746056534 RCV001189490 CA054549 RCV000693354 |
285 | V>L | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000803599 rs59564495 |
286 | G>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000208368 rs59564495 RCV000182389 |
287 | A>missing | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397517910 CA018764 RCV001852842 RCV000041373 RCV001181114 |
287 | A>V | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000041375 CA018775 rs397517911 |
288 | A>G | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs60168366 RCV000790001 RCV000057476 |
289 | H>missing | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000734453 RCV000793720 CA342817658 rs1558130062 |
289 | H>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018785 RCV000505709 RCV000692291 RCV000041376 rs397517912 RCV002054813 |
290 | E>K | Variant assessed as Somatic; impact. Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001326041 rs1651453317 |
290 | E>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572361004 RCV000811048 CA342817710 |
292 | L>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553265455 RCV000532201 CA342817717 |
293 | Q>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001190329 rs1553265455 RCV001876223 RCV002447025 |
293 | Q>E | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_009982 rs61616775 RCV000057477 CA018798 |
294 | Q>P | EDMD2 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001375642 RCV001700259 rs769210828 CA054591 RCV000617558 RCV001041442 RCV000772649 |
295 | S>L | Cardiomyopathy Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002513741 CA018804 VAR_064967 RCV002444515 RCV000057478 rs267607633 |
295 | S>P | Charcot-Marie-Tooth disease type 2 EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000178907 rs797044758 RCV000801276 |
296 | R>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000808152 RCV002487736 rs375987939 CA31011836 RCV001188707 |
296 | R>C | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001212279 rs1024051591 |
296 | R>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001337053 rs1060502212 |
297 | I>N | Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16609890 RCV000468668 rs1060502212 |
297 | I>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886043082 RCV000265984 CA10605086 RCV001176609 |
297 | I>V | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000015590 VAR_017661 CA018809 RCV001176301 RCV000826146 RCV003137527 RCV003162253 RCV000653885 RCV000057479 rs59885338 RCV000986429 RCV002467495 COSM1668048 RCV001762047 |
298 | R>C | Familial partial lipodystrophy, Dunnigan type Cardiomyopathy Autosomal recessive axonal hereditary motor and sensory neuropathy large_intestine Charcot-Marie-Tooth disease type 2B1 Hutchinson-Gilford syndrome Charcot-Marie-Tooth disease type 2 Mitochondrial complex 1 deficiency, nuclear type 16 Dilated cardiomyopathy 1A CMT2B1 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA342817797 RCV002485734 RCV000702673 rs762653476 |
298 | R>L | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001205747 RCV000592791 CA342817795 rs762653476 |
298 | R>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000316027 rs762718963 RCV001183036 CA054634 RCV001172625 |
299 | I>M | Cardiomyopathy Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000726532 RCV000041378 RCV000148604 RCV000619864 rs150924946 RCV001086902 RCV001174244 CA014949 RCV000777745 |
299 | I>V | Familial partial lipodystrophy, Dunnigan type Cardiomyopathy Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000201431 CA10575804 rs79907212 VAR_070178 |
300 | D>G | Hutchinson-Gilford progeria syndrome, atypical HGPS; atypical form with late onset; abnormal nuclear morphology with single or multple blebs, lobulation and occasional ringed or donut shaped nuclei [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs267607591 RCV000057481 CA018826 RCV001234965 RCV000146262 |
300 | D>N | Lipodystrophy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018833 VAR_063590 rs267607596 RCV000057482 |
302 | L>P | MDCL [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000057484 RCV000490978 RCV000463447 rs59684335 RCV002371899 RCV000502542 |
303 | S>missing | Dilated cardiomyopathy 1S Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_064968 RCV000057483 rs61527854 CA018839 |
303 | S>P | EDMD2 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs730882262 CA10584123 RCV000235583 RCV000500335 |
306 | L>P | Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018851 rs730882262 RCV000162192 |
306 | L>R | Hutchinson-Gilford progeria syndrome, childhood-onset [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000230197 CA10581728 rs878855234 |
310 | Q>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1651466808 RCV001232733 |
312 | Q>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA342819848 rs1278448557 RCV001296452 |
317 | E>D | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001251293 RCV000057489 RCV001775075 RCV000041379 RCV002371856 rs56816490 VAR_039775 RCV000560270 RCV000769726 RCV001000784 CA018878 |
317 | E>K | Cardiomyopathy Primary dilated cardiomyopathy Primary familial dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A CMD1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000057491 RCV001182567 RCV001303998 RCV000852590 VAR_070179 RCV002371900 rs267607574 CA018883 |
318 | A>T | Cardiomyopathy Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 CMD1A; no effect on nuclear morphology and lamin A localization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001098490 RCV001100257 CA342819883 RCV001098493 RCV001100256 RCV000712227 rs1212920276 RCV001098491 RCV001372393 RCV001100254 RCV001100258 RCV001188467 RCV001098492 RCV001100255 RCV001098489 |
318 | A>V | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Cardiomyopathy Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2B1 Congenital muscular dystrophy due to LMNA mutation Lethal tight skin contracture syndrome Benign scapuloperoneal muscular dystrophy with cardiomyopathy Familial partial lipodystrophy, Dunnigan type Variant assessed as Somatic; 0.0 impact. Hutchinson-Gilford syndrome Mandibuloacral dysplasia with type A lipodystrophy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001069384 rs397517915 RCV000041381 RCV000236709 |
320 | L>missing | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000681609 rs56771886 RCV000057492 RCV000015581 |
321 | R>missing | Benign scapuloperoneal muscular dystrophy with cardiomyopathy Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002483029 RCV000041382 RCV000619789 rs267607554 RCV002265579 RCV000057493 CA018909 RCV000686618 |
321 | R>* | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Primary dilated cardiomyopathy Primary familial dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001324030 rs56851164 |
326 | S>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001176330 RCV002379678 RCV001550193 rs745540806 RCV002483951 RCV001326063 CA054955 |
326 | S>L | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001192112 RCV000544253 RCV000208012 rs56851164 RCV000212504 RCV000755678 RCV000057494 RCV000621488 CA018917 |
326 | S>T | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000182391 RCV001382584 rs794728610 |
327 | L>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1651545788 RCV001232581 |
328 | A>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775159300 RCV000657946 RCV003160061 CA342820127 RCV001178642 RCV000692895 |
329 | R>C | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001102247 RCV001102251 RCV000227136 rs775159300 RCV001102250 RCV001100259 RCV001102248 CA10575962 RCV001100260 RCV001102245 RCV001102246 RCV001100261 RCV001102249 RCV000653941 |
329 | R>G | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2B1 Hutchinson-Gilford syndrome Congenital muscular dystrophy due to LMNA mutation Lethal tight skin contracture syndrome Charcot-Marie-Tooth disease type 2 Mandibuloacral dysplasia with type A lipodystrophy Benign scapuloperoneal muscular dystrophy with cardiomyopathy Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397517913 CA018926 RCV001852843 RCV000041377 RCV002477128 RCV000590942 RCV001181115 |
329 | R>H | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Variant assessed as Somatic; 4.627e-05 impact. Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs397517913 RCV000853156 CA342820130 |
329 | R>P | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000284978 RCV000380612 RCV000310763 RCV000313247 rs775159300 RCV000400023 RCV001814979 CA054980 RCV000392349 RCV000345676 RCV000342371 RCV000288324 RCV000348346 RCV001262711 |
329 | R>S | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Limb-Girdle Muscular Dystrophy, Recessive Emery-Dreifuss muscular dystrophy Familial partial lipodystrophy Hutchinson-Gilford syndrome Congenital muscular dystrophy due to LMNA mutation Lethal tight skin contracture syndrome Charcot-Marie-Tooth disease type 2 Dilated Cardiomyopathy, Dominant Mandibuloacral dysplasia Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16609891 RCV000467141 rs1060502211 |
330 | E>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA342820135 RCV001317047 rs1060502211 |
330 | E>K | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553265647 RCV000653920 RCV001170980 |
331 | R>missing | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000182367 CA018936 RCV001265547 rs59301204 RCV000769727 RCV001071970 RCV000593819 RCV002381325 |
331 | R>Q | Cardiomyopathy Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM897118 rs879253898 RCV002379039 RCV001176603 RCV001857795 CA10584124 RCV000236116 |
331 | R>W | Variant assessed as Somatic; 4.634e-05 impact. Cardiomyopathy endometrium Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001347920 rs763069566 CA055030 |
333 | T>I | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA014958 RCV002381457 rs370656306 RCV002478412 RCV000148605 RCV001183553 RCV000653909 RCV000726496 |
334 | S>N | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000552796 rs1553265660 RCV002404566 RCV000778941 |
335 | R>missing | Charcot-Marie-Tooth disease type 2 LMNA-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002401922 RCV000653901 RCV000771975 rs138592977 RCV000727308 RCV001174248 CA048759 |
335 | R>Q | Cardiomyopathy Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA016426 RCV000721960 RCV000030145 RCV000852407 rs386134243 RCV000620788 RCV000844672 RCV003149579 RCV001196390 RCV000546102 RCV000182368 RCV002477025 RCV000845456 |
335 | R>W | Heart-hand syndrome, Slovenian type Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Left ventricular noncompaction Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_009983 RCV000225878 CA016433 rs58105277 RCV000057214 RCV002483086 RCV002426615 |
336 | R>Q | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001876124 CA342820181 RCV002484004 rs1237093879 RCV001183937 |
336 | R>W | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002634077 CA342820198 rs756538414 |
339 | A>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001170981 rs1651558432 RCV002558712 |
342 | E>K | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs61177390 VAR_009984 RCV000057215 RCV000691928 RCV001180075 CA016448 RCV002483087 |
343 | R>Q | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001096837 RCV001172615 RCV002381813 CA048837 RCV001823746 RCV002507420 RCV001096838 RCV001096840 RCV001098596 RCV000812997 RCV001102252 RCV001096836 RCV001189952 RCV001593004 COSM1213485 RCV001096841 rs749784223 RCV001096842 RCV001096839 RCV001096835 |
343 | R>W | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Cardiomyopathy Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2B1 Lethal tight skin contracture syndrome Benign scapuloperoneal muscular dystrophy with cardiomyopathy Familial partial lipodystrophy, Dunnigan type Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease large_intestine Hutchinson-Gilford syndrome Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Mandibuloacral dysplasia with type A lipodystrophy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1572362885 RCV000812458 |
344 | E>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002290684 rs1449688220 RCV001295895 |
347 | E>G | Charcot-Marie-Tooth disease type 2 Benign scapuloperoneal muscular dystrophy with cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267607548 RCV001049424 RCV000057216 CA016456 |
347 | E>K | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016471 RCV002483277 RCV001243750 RCV000144027 rs587777892 |
348 | M>I | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000057219 rs58789393 RCV001854172 VAR_039776 CA016488 |
349 | R>L | Charcot-Marie-Tooth disease type 2 CMD1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000754811 CA016479 RCV000500548 RCV002504959 RCV000845011 rs267607555 RCV000057218 RCV000653911 |
349 | R>W | Familial partial lipodystrophy, Dunnigan type Monogenic diabetes Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001302398 rs771623461 |
351 | R>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267607623 RCV000790003 RCV000182362 RCV000247014 RCV000229718 CA016519 |
353 | Q>* | Autosomal dominant distal hereditary motor neuropathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1651564707 RCV001237127 |
354 | Q>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1651565056 RCV001071262 |
354 | Q>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000057223 RCV000233611 rs267607617 CA016527 |
355 | Q>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_064969 | 355 | Q>del | EDMD2 [UniProt] | Yes | UniProt |
|
rs267607567 RCV000057225 CA016542 RCV001063774 |
357 | D>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA342820314 rs1131690785 RCV000492070 |
357 | D>V | Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000786358 rs267607567 CA342820312 RCV000558640 |
357 | D>Y | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491922 CA342820319 rs1114167345 |
358 | E>G | Arrhythmogenic right ventricular dysplasia 9 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs60458016 RCV000502108 CA016555 VAR_009985 RCV001420791 RCV000470514 RCV000015622 RCV000015623 RCV000057227 |
358 | E>K | Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2 Benign scapuloperoneal muscular dystrophy with cardiomyopathy Muscular dystrophy EDMD2 and MDCL; aberrant localization with decreased nuclear rim staining and formation of intranuclear foci when transfected in C2C12 myoblasts; no obvious effect on nuclear morphology in cultured skin fibroblasts from heterozygous patients; distribution of endogenous LMNA, LMNB1 and LMNB2 are altered in cells expressing this mutant; interacts with itself and with wild-type LMNA and LMNB1; no effect on protein level [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001218431 VAR_064970 RCV000504480 RCV000057229 CA016566 rs267607634 |
361 | E>K | Charcot-Marie-Tooth disease type 2 Muscular dystrophy EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001208634 RCV000236290 CA10584125 rs267607634 |
361 | E>Q | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000057230 RCV000143910 rs58389804 |
363 | L>missing | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10581729 RCV000313924 RCV003165656 RCV000227450 rs878855231 |
364 | D>N | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397517886 RCV000041305 RCV000236658 RCV002513581 CA016599 |
369 | L>P | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876657649 CA10576367 RCV000223064 |
370 | D>E | Laminopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016617 RCV000057233 rs59653062 VAR_009986 |
371 | M>K | EDMD2; dramatically aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; distribution of endogenous LMNA, LMNB1 and LMNB2 are altered in cells expressing this mutant; causes an increased loss of endogenous EMD from the nuclear envelope; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs397517887 RCV000041306 |
371 | M>missing | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1270221130 CA342820474 RCV000703949 |
371 | M>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001036248 rs267607575 RCV000057234 |
372 | E>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000041307 RCV000492959 rs397517888 RCV000805993 |
372 | E>missing | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000677300 rs1553265736 RCV001384174 CA342820502 |
372 | E>D | Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000696116 RCV000592581 CA342820494 rs1553265733 |
372 | E>K | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA342820510 rs1553265739 RCV000502219 |
373 | I>F | Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000704281 rs1340894696 CA342820516 |
373 | I>M | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060502214 CA16609888 RCV000458536 |
373 | I>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886042239 RCV000339961 CA10603975 RCV000697301 |
375 | A>D | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000235905 RCV001256917 CA10584126 RCV001038975 rs879254162 |
375 | A>T | Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016641 RCV000469099 RCV000223811 rs397517889 RCV000592134 RCV000041308 |
377 | R>C | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016651 RCV002321484 RCV000503996 RCV001089610 RCV000057235 RCV000681569 VAR_016205 RCV000547164 rs61672878 |
377 | R>H | Charcot-Marie-Tooth disease type 2 Benign scapuloperoneal muscular dystrophy with cardiomyopathy Sudden unexplained death Muscular dystrophy EDMD2; no obvious effect on nuclear morphology in cultured skin fibroblasts from heterozygous patients; no effect on protein level [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV002321554 RCV000057236 CA016657 VAR_039777 RCV000216517 rs61672878 RCV001237945 |
377 | R>L | Charcot-Marie-Tooth disease type 2 EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000057237 CA016670 RCV000015620 rs121912495 VAR_063591 |
380 | L>S | Congenital muscular dystrophy due to LMNA mutation MDCL [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000653874 rs1553265760 |
381 | E>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267607603 RCV001210900 |
383 | E>D | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1651580090 RCV003129737 RCV001220492 |
383 | E>K | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553265761 RCV002281642 RCV000503663 |
385 | E>missing | Benign scapuloperoneal muscular dystrophy with cardiomyopathy Muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000801706 rs1572363397 CA342820683 |
386 | R>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267607545 RCV000057243 VAR_009987 CA016734 |
386 | R>K | EDMD2; dramatically aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; distribution of endogenous LMNA, LMNB1 and LMNB2 are altered in cells expressing this mutant; causes an increased loss of endogenous EMD from the nuclear envelope; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002518430 RCV000236639 rs879253933 RCV001202827 CA10584129 |
386 | R>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
CA10584130 rs879253934 RCV000235338 RCV000653922 |
387 | L>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000057250 CA016798 rs58133342 RCV001854173 |
388 | R>C | Variant assessed as Somatic; impact. Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000805453 rs267607576 CA016807 RCV001257936 VAR_070180 RCV000057251 |
388 | R>H | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 CMD1A; no effect on nuclear morphology but restricts lamin A to the cytoplasm [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000501231 CA342820778 rs267607576 |
388 | R>P | Muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000476791 rs1553265793 RCV001753890 |
388 | R>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs757887400 RCV001233202 CA049322 |
394 | T>I | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000706257 CA342820935 RCV003165920 rs267607561 |
395 | S>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA016823 COSM897119 RCV000157294 RCV002336206 RCV002483088 rs267607561 RCV000057253 RCV001056678 |
395 | S>L | Variant assessed as Somatic; 4.988e-05 impact. endometrium Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001301580 RCV000728231 RCV002507282 CA049363 rs61693978 RCV001191434 |
396 | Q>L | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000726799 RCV002345695 RCV003129799 RCV000194852 RCV001804930 CA049380 rs374726751 RCV000535613 |
397 | R>C | Cardiomyopathy Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002341216 RCV000523012 CA049391 RCV000695647 rs747952058 |
397 | R>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000057255 VAR_039778 RCV000015616 RCV002336085 RCV001174241 CA016847 rs58672172 RCV001188431 RCV001257937 RCV000653937 |
399 | R>C | Familial partial lipodystrophy, Dunnigan type Cardiomyopathy Charcot-Marie-Tooth disease Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 FPLD2 and CMD1A; no effect on nuclear morphology and lamin A localization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA016854 RCV000550366 RCV002336207 rs267607563 RCV001184773 RCV000057256 |
399 | R>H | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001221869 rs1651608363 |
400 | G>D | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000041313 CA016870 COSM897120 VAR_072818 RCV000057258 RCV001172616 rs61094188 RCV000769728 RCV000528639 RCV000157295 RCV000172002 RCV000627127 RCV002345327 |
401 | R>C | Catecholaminergic polymorphic ventricular tachycardia 1 Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease endometrium Primary familial dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 EDMD2; abnormal nuclear localization in a honeycomb expression pattern in about 22% of cultured skin fibroblasts from heterozygous patients; enhances the interaction with SYNE2; no effect on nuclear localization; no effect on protein level [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA049470 rs141490569 RCV002487250 RCV002348014 RCV001186932 RCV000726092 RCV000653840 |
401 | R>H | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1466205936 CA342821111 RCV000810936 |
404 | S>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA016877 rs397517891 RCV001798223 RCV000041314 |
408 | Q>P | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001256761 RCV001798692 CA10602394 RCV000408652 rs1057515421 |
410 | Q>* | Cardiomyopathy Dilated cardiomyopathy 1A Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727504852 RCV000156201 RCV001186916 RCV002372022 RCV002484946 RCV000994135 RCV001341857 CA016884 |
411 | G>C | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_072819 RCV000772168 rs267607647 CA016892 RCV000057259 RCV002483089 |
411 | G>D | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome probable disease-associated variant found in patients with metabolic syndromes; no effect on nuclear lamin A localization; no effect on the interaction with SYNE2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs966050612 RCV001187388 CA31013510 RCV001217599 |
412 | G>R | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001528956 RCV001240466 RCV002375271 rs966050612 RCV002491793 CA342821291 |
412 | G>W | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002491587 CA049586 VAR_072820 RCV001859170 rs766811975 RCV001193316 |
413 | G>C | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 found in patients with skeletal and cardiac muscular dystrophies; no effect on nuclear lamin A localization; no effect on the interaction with SYNE2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA342821311 rs1350031185 RCV001347945 |
413 | G>D | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000534245 RCV000057260 VAR_072821 rs267607606 CA016913 RCV002381362 RCV001191555 RCV000764982 |
415 | V>I | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 rare variant; found in patients with atrial fibrillation; unknown pathological significance; no effect on nuclear lamin A localization; enhances the interaction with SYNE2; causes nuclear deformations in heat shock experiments [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA049641 RCV001524911 rs752367284 RCV001302414 |
416 | T>I | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs752367284 RCV001178672 CA342821379 |
416 | T>N | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000597022 RCV000227837 VAR_072822 CA049655 rs755686359 RCV001184022 RCV002479935 |
419 | R>C | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 found in patients with lipodystrophy; no effect on nuclear lamin A localization; no effect on the interaction with SYNE2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001172620 CA049674 RCV000549013 RCV002483493 rs777648901 RCV002420529 |
419 | R>H | Charcot-Marie-Tooth disease Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001347278 rs777648901 CA342821452 |
419 | R>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000057261 RCV002444514 rs267607564 RCV000694118 RCV000772169 VAR_072823 CA016923 RCV002281901 |
421 | L>P | Cardiomyopathy Charcot-Marie-Tooth disease type 2 probable disease-associated variant found in patient with severe metabolic syndrome; no effect on nuclear lamin A localization; no effect on the interaction with SYNE2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA342821502 rs1448275854 TCGA novel RCV000823653 |
422 | E>* | Variant assessed as Somatic; impact. Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1166140426 CA342821538 RCV002370085 RCV000796032 RCV001509064 |
424 | T>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002381591 rs373584456 RCV001181813 RCV002463440 CA016936 RCV000182369 RCV000653931 RCV002492808 |
427 | R>C | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001221759 rs747139279 CA049726 RCV002503919 RCV000767210 |
427 | R>H | Variant assessed as Somatic; 0.0 impact. Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002484190 rs1651628416 RCV001219290 |
428 | S>G | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs368831495 CA049739 RCV000689304 |
428 | S>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1385994420 RCV001876217 CA342821663 RCV001189562 RCV002480630 |
429 | S>N | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002504311 RCV001231263 rs1651629254 |
429 | S>R | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001313717 rs1651629810 |
431 | S>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000216125 RCV000057263 RCV000230676 RCV002381363 CA016950 rs267607618 |
432 | Q>* | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001178697 rs1651630330 |
432 | Q>R | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001850150 rs267607577 RCV000156173 |
433 | H>* | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748433620 RCV002481764 CA049768 RCV001869379 |
434 | A>T | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001524022 RCV001172619 VAR_039779 RCV000653929 RCV000148606 RCV000057265 rs150840924 RCV000150953 CA014967 RCV002381364 |
435 | R>C | Cardiomyopathy Charcot-Marie-Tooth disease Hutchinson-Gilford syndrome Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 CMD1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA342821813 RCV001054840 RCV003130131 rs1263919141 |
435 | R>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001804951 CA10576368 RCV002503855 RCV001753644 RCV000824027 rs876657849 RCV002381743 RCV000218886 |
436 | T>A | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001257938 RCV001390100 RCV000057266 RCV000157296 rs267607577 |
437 | S>missing | Cardiomyopathy Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001859116 rs766932100 RCV002379721 RCV001186391 CA049814 |
438 | G>R | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001182564 VAR_070181 CA016991 rs62636506 RCV001225469 RCV002381365 RCV000057267 |
439 | R>C | Cardiomyopathy Charcot-Marie-Tooth disease type 2 FPLD2; increase in nuclear blebbing and formation of honeycomb-like structures in the nuclei with no accumulation of prelamin A in skin fibroblasts; causes oligomerization of the C-terminal globular domain of lamins A and C under no-reducing conditions and increases binding affinity for DNA; increases sensitivity to oxidative stress; no significant differences in stability and structure compared with the wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000552191 RCV001186220 RCV000015617 rs121912493 RCV000057268 RCV001264435 RCV002381252 RCV001172618 CA016999 |
440 | V>M | Cardiomyopathy Charcot-Marie-Tooth disease Mandibuloacral dysplasia with type A lipodystrophy, atypical Variant assessed as Somatic; impact. Charcot-Marie-Tooth disease type 2 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs368542816 RCV001346137 |
442 | V>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001102354 RCV001096943 RCV001544605 RCV001096945 RCV001096946 RCV001096944 CA049885 rs368542816 RCV001096941 RCV001190252 RCV000621062 RCV001102355 RCV001096939 RCV001096942 RCV001096940 RCV000808964 |
442 | V>M | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Familial partial lipodystrophy, Dunnigan type Cardiomyopathy Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2B1 Congenital muscular dystrophy due to LMNA mutation Hutchinson-Gilford syndrome Lethal tight skin contracture syndrome Benign scapuloperoneal muscular dystrophy with cardiomyopathy Mandibuloacral dysplasia with type A lipodystrophy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1558132212 CA342821985 RCV000774489 |
443 | E>K | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001038918 rs1651638404 |
445 | V>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001102453 RCV001100506 RCV001102452 RCV001100503 RCV001100504 RCV001100501 RCV001100505 CA049944 RCV001102450 RCV001186448 rs505058 RCV001102451 CA049921 RCV001100502 |
446 | D>E | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Familial partial lipodystrophy, Dunnigan type Cardiomyopathy Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy due to LMNA mutation Hutchinson-Gilford syndrome Charcot-Marie-Tooth disease type 2B1 Lethal tight skin contracture syndrome Benign scapuloperoneal muscular dystrophy with cardiomyopathy Mandibuloacral dysplasia with type A lipodystrophy Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs58541611 CA342822060 RCV000593108 RCV001387373 |
446 | D>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001248144 RCV000057269 VAR_039780 rs58541611 CA017008 |
446 | D>V | Charcot-Marie-Tooth disease type 2 EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs267607637 CA017024 VAR_064971 RCV000705578 RCV000057271 |
449 | G>D | Charcot-Marie-Tooth disease type 2 EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_063592 RCV002513737 CA017039 rs267607598 RCV000057274 |
453 | R>P | Charcot-Marie-Tooth disease type 2 MDCL [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001102454 RCV001102457 RCV001183072 RCV000690888 RCV001097050 RCV001097049 RCV001097052 RCV001097053 RCV001097054 RCV001102455 RCV001786410 rs267607598 RCV001102456 CA049965 RCV001097051 |
453 | R>Q | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Familial partial lipodystrophy, Dunnigan type Cardiomyopathy Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2B1 Hutchinson-Gilford syndrome Lethal tight skin contracture syndrome Charcot-Marie-Tooth disease type 2 Benign scapuloperoneal muscular dystrophy with cardiomyopathy Mandibuloacral dysplasia with type A lipodystrophy Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs58932704 VAR_009988 CA017033 RCV001813989 RCV001095717 RCV000500734 RCV000472112 RCV000057273 RCV000015565 |
453 | R>W | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 2 Benign scapuloperoneal muscular dystrophy with cardiomyopathy Dilated cardiomyopathy 1A Muscular dystrophy EDMD2; abnormal nuclear localization; forms nuclear foci in about 8% of cultured skin fibroblasts from heterozygous patients; interacts with itself and with wild-type LMNA and LMNB1; no effect on protein level [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
rs267607638 RCV000057275 VAR_064972 CA017048 |
454 | L>P | EDMD2 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001170982 rs1651642668 |
455 | R>missing | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001526075 RCV001052345 CA017058 rs397517892 RCV002490578 RCV000041316 |
455 | R>C | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002480633 RCV001350407 RCV001190369 RCV002379734 CA342822236 rs267607597 |
455 | R>H | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002514281 CA017066 VAR_063593 RCV000057276 rs267607597 |
455 | R>P | Charcot-Marie-Tooth disease type 2 MDCL [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs267607550 RCV002513738 RCV000057280 |
456 | N>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_063594 rs267607599 RCV000465598 RCV000057277 CA017074 |
456 | N>D | Charcot-Marie-Tooth disease type 2 MDCL [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000057278 rs60992550 CA017084 VAR_039781 |
456 | N>I | EDMD2; mislocalized in the nucleus; does not alter nuclear size or shape [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA017098 rs61235244 RCV000057279 RCV001044424 VAR_039782 |
456 | N>K | Charcot-Marie-Tooth disease type 2 EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV000729830 CA342822243 RCV001862185 rs267607599 |
456 | N>Y | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000154750 RCV000824275 RCV002381491 RCV001179779 rs372011095 CA017121 RCV000726125 |
459 | N>S | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA017154 rs267607642 RCV001060202 RCV000057286 VAR_064973 RCV002498332 RCV001182565 |
461 | D>Y | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000578339 CA342822406 rs1553265999 |
462 | Q>P | Benign scapuloperoneal muscular dystrophy with cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000986431 CA342822430 rs1281896947 RCV000680035 |
464 | M>K | Congenital muscular dystrophy due to LMNA mutation Hutchinson-Gilford syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA050209 RCV000772026 RCV002395208 rs200262654 RCV000725643 RCV000800973 RCV002506209 |
464 | M>V | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA017164 VAR_009989 RCV001851878 rs61282106 RCV000057287 RCV000015584 |
465 | G>D | Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2 FPLD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs58100028 RCV001210226 RCV000057288 |
466 | N>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1159123077 RCV001337595 |
466 | N>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000182396 rs794728613 RCV001852314 RCV001775092 CA017193 |
467 | W>* | Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267607639 RCV001236829 RCV000057289 VAR_064974 CA017177 |
467 | W>R | Charcot-Marie-Tooth disease type 2 EDMD2 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP ClinGen Ensembl |
|
RCV000057291 VAR_009990 rs57394692 CA017200 |
469 | I>T | EDMD2 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA017213 RCV000057293 rs28928902 RCV000015597 RCV001246687 VAR_017662 |
471 | R>C | Mandibuloacral dysplasia with type A lipodystrophy, atypical Charcot-Marie-Tooth disease type 2 HGPS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000057292 RCV002514282 rs28928902 CA017206 RCV002390204 |
471 | R>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_070182 RCV000030148 RCV000621248 RCV000154177 CA017220 rs267607578 RCV000653872 RCV000057294 |
471 | R>H | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A CMD1A; no effect on nuclear morphology and lamin A localization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000755017 CA342822531 rs267607578 |
471 | R>P | Benign scapuloperoneal muscular dystrophy with cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001212011 RCV001187167 rs267607579 RCV000081301 RCV002390237 |
474 | G>E | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_039783 RCV000057296 CA017237 rs57747780 |
481 | Y>H | EDMD2 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs57920071 RCV001238528 |
482 | R>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001097056 RCV001098785 RCV001098788 RCV000057300 VAR_009991 RCV001098783 CA017271 rs11575937 RCV001097055 RCV001098784 RCV000015580 RCV001098786 RCV001098787 RCV001098782 |
482 | R>L | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy due to LMNA mutation Hutchinson-Gilford syndrome Charcot-Marie-Tooth disease type 2B1 Lethal tight skin contracture syndrome Benign scapuloperoneal muscular dystrophy with cardiomyopathy Mandibuloacral dysplasia with type A lipodystrophy Dilated cardiomyopathy 1A FPLD2; abnormal nuclear localization in a honeycomb expression pattern in about 10% of cultured skin fibroblasts from heterozygous patients; no effect on protein level [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000763258 RCV001179839 rs11575937 CA014814 RCV001822996 RCV000041318 RCV000015575 RCV000754814 RCV002390111 VAR_009992 RCV000190399 RCV000459624 RCV000057299 |
482 | R>Q | Emery-Dreifuss muscular dystrophy 3, autosomal recessive Familial partial lipodystrophy, Dunnigan type Laminopathy Cardiomyopathy Monogenic diabetes Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000015579 RCV002482872 RCV001266075 RCV002390112 COSM463140 RCV001235764 VAR_009993 rs57920071 RCV000057298 RCV001174239 CA017258 RCV001248961 |
482 | R>W | kidney Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease Familial partial lipodystrophy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 Inborn genetic diseases FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type; decreases binding affinity for DNA; increases sensitivity to oxidative stress [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
rs1651699171 RCV001306369 |
483 | F>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000363611 RCV001183040 CA10604968 RCV002487220 RCV000468005 rs886042993 |
485 | P>A | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA017283 VAR_009994 rs59981161 CA017278 RCV000193901 RCV000057302 RCV000057301 |
486 | K>N | Familial partial lipodystrophy, Dunnigan type FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001349706 rs1651700215 |
487 | F>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001213786 RCV000727585 rs1558132909 CA342822754 |
489 | L>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs56699480 CA017298 RCV000057304 RCV000015609 |
493 | Q>* | Benign scapuloperoneal muscular dystrophy with cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001867919 CA342822801 rs1553266048 RCV000594075 |
493 | Q>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000653908 CA050299 rs760277884 RCV000359100 |
494 | V>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000235878 RCV001100613 CA050321 RCV001100614 RCV001180056 RCV000653862 RCV001098789 RCV001100615 rs200466188 RCV001100616 RCV000681642 RCV001100618 RCV001100619 RCV002494678 COSM1559931 RCV001100617 RCV002392729 RCV001100889 RCV001100620 |
496 | T>M | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Cardiomyopathy Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2B1 Lethal tight skin contracture syndrome Benign scapuloperoneal muscular dystrophy with cardiomyopathy Familial partial lipodystrophy, Dunnigan type Variant assessed as Somatic; 0.0 impact. large_intestine Hutchinson-Gilford syndrome Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 Mandibuloacral dysplasia with type A lipodystrophy Dilated cardiomyopathy 1A [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000624376 RCV001070590 CA342822966 rs57730570 |
498 | W>* | Primary familial dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs57730570 CA017364 RCV000624578 RCV000057312 |
498 | W>C | Primary familial dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002558773 RCV001174409 rs1215424724 CA342823023 |
502 | A>T | Monogenic diabetes Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001008892 RCV001862755 rs1572366216 |
504 | A>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558133157 RCV000706188 |
506 | H>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000777786 RCV002298550 CA10581731 RCV001100715 RCV001098894 RCV001100712 RCV001098896 RCV001100713 RCV001100717 RCV001098895 RCV002392721 rs878855233 RCV000227241 RCV001100714 RCV002500822 RCV001100716 RCV000498163 RCV001100718 RCV000235371 |
506 | H>P | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Cardiomyopathy Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2B1 Congenital muscular dystrophy due to LMNA mutation Lethal tight skin contracture syndrome Benign scapuloperoneal muscular dystrophy with cardiomyopathy Familial partial lipodystrophy, Dunnigan type Hutchinson-Gilford syndrome Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Hypertrophic cardiomyopathy Mandibuloacral dysplasia with type A lipodystrophy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1164522299 CA342823146 RCV001070235 |
508 | P>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA342823153 RCV000698308 rs762847359 RCV003153816 |
509 | P>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000618545 rs58013325 RCV000476399 RCV000057317 RCV000041320 |
510 | T>missing | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA050598 RCV001181542 RCV002397316 rs759408439 RCV000653954 |
511 | D>N | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs57877560 RCV000057319 RCV000789669 CA017409 |
512 | L>P | Hereditary liability to pressure palsies [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA342823242 rs1572366412 RCV000804745 |
514 | W>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_071968 | 515 | K>E | FPLD2 [UniProt] | Yes | UniProt |
|
rs1383314305 CA342823281 RCV001179956 RCV002558928 |
516 | A>T | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA31014347 RCV001773460 RCV001205603 rs757733890 |
518 | N>D | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA050639 RCV001343851 RCV002404604 RCV000596894 rs753988867 RCV000852408 |
519 | T>I | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs58362413 CA342823348 RCV000622793 |
520 | W>* | Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA342823343 rs267607557 RCV000540642 RCV001213240 |
520 | W>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000057321 CA017432 VAR_039784 rs58362413 |
520 | W>S | EDMD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1572366516 RCV000844894 CA342823380 |
522 | C>R | Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000182372 RCV000041324 RCV000057323 RCV000474372 CA017471 RCV000678714 rs201583907 RCV001330499 RCV001181346 RCV000245950 VAR_067258 RCV001250579 CA017464 |
523 | G>R | Cardiomyopathy Lethal tight skin contracture syndrome Left ventricular noncompaction Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A CMD1A; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000804440 rs1572366593 |
527 | R>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs57318642 RCV000192011 RCV001223656 RCV000057324 RCV002288492 RCV000015576 VAR_017663 RCV001185736 CA017487 |
527 | R>C | Mandibuloacral dysplasia with type a lipodystrophy (mada) Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Congenital muscular dystrophy due to LMNA mutation Hutchinson-Gilford syndrome Charcot-Marie-Tooth disease type 2 Mandibuloacral dysplasia with type A lipodystrophy HGPS [Ensembl, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_018727 RCV000555364 RCV001178367 CA014822 RCV000015591 RCV001174240 RCV002399328 RCV000148607 RCV000057326 RCV000015592 rs57520892 |
527 | R>H | Mandibuloacral dysplasia with type a lipodystrophy (mada) Cardiomyopathy Charcot-Marie-Tooth disease Mandibuloacral dysplasia with type A lipodystrophy, atypical Charcot-Marie-Tooth disease type 2 Mandibuloacral dysplasia with type A lipodystrophy Mandibuloacral dysplasia MADA [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001178403 rs57520892 RCV001875896 |
527 | R>L | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000015569 RCV001375641 CA017498 RCV000015570 RCV000700159 VAR_009995 RCV000057327 rs57520892 |
527 | R>P | Familial partial lipodystrophy, Dunnigan type Mandibuloacral dysplasia with type a lipodystrophy (mada) Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Benign scapuloperoneal muscular dystrophy with cardiomyopathy EDMD2 and FPLD2; interacts with itself and with wild-type LMNA and LMNB1; reduced binding to SUN1; abnormal nuclear localization; forms nuclear foci in about 13% of cultured skin fibroblasts from heterozygous patients; no effect on protein level [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000986432 CA017504 VAR_009996 RCV000057328 RCV000201062 RCV001045262 rs57629361 |
528 | T>K | Hutchinson-Gilford syndrome Charcot-Marie-Tooth disease type 2 Benign scapuloperoneal muscular dystrophy with cardiomyopathy EDMD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001182566 rs57629361 CA017516 RCV000057330 |
528 | T>M | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_039785 RCV000499741 RCV001814041 CA017510 RCV000057329 rs57629361 RCV000472329 |
528 | T>R | Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2 EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs121912494 CA017528 RCV000015619 RCV000057331 |
529 | A>T | Mandibuloacral dysplasia with type a lipodystrophy (mada) Mandibuloacral dysplasia with type A lipodystrophy [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA017534 rs60580541 RCV000015608 RCV002399329 RCV002467496 RCV000057332 VAR_034709 |
529 | A>V | Familial partial lipodystrophy, Dunnigan type Mandibuloacral dysplasia with type a lipodystrophy (mada) Mandibuloacral dysplasia with type A lipodystrophy MADA [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000697810 rs780302064 RCV000500844 CA342823527 |
530 | L>F | Charcot-Marie-Tooth disease type 2 Muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA891842720 RCV000705726 rs1558133435 |
530 | L>F | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs60934003 RCV000015571 RCV000057333 CA017541 VAR_009997 |
530 | L>P | Benign scapuloperoneal muscular dystrophy with cardiomyopathy EDMD2; interacts with itself and with wild-type LMNA and LMNB1; reduced binding to SUN1; no decrease in the stability compared with wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001226540 rs747717293 RCV000504326 RCV001178174 CA050728 |
535 | G>E | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000722197 rs1304542176 RCV002535023 CA342823616 CA342823619 |
535 | G>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
RCV002466612 RCV001044702 rs1651736894 |
536 | E>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1651778506 RCV001215471 |
539 | A>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs483352811 CA017595 RCV000087081 |
540 | M>I | Mandibuloacral dysplasia with type a lipodystrophy (mada) Mandibuloacral dysplasia with type A lipodystrophy [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000057340 RCV000192012 CA017588 rs267607547 |
540 | M>T | Hutchinson-Gilford syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000211786 RCV000057343 rs56984562 RCV000041325 CA017615 RCV000462793 VAR_039786 RCV000242991 |
541 | R>C | Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A CMD1A; grossly abnormal nuclear shape with the nuclear envelope producing prominent lobules in about 10% of cultured skin fibroblasts from heterozygous patients [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000057342 RCV000022641 rs56984562 CA017607 |
541 | R>G | Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001262710 rs61444459 RCV000230467 RCV001836636 CA017621 VAR_039787 RCV000246865 RCV000221013 RCV000057344 |
541 | R>H | Hutchinson-Gilford syndrome Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs61444459 VAR_064975 RCV000057345 CA017630 |
541 | R>P | EDMD2; mis-localized in the nucleus; does not alter nuclear size or shape [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000823221 rs56984562 CA017601 VAR_039788 RCV000057341 |
541 | R>S | Charcot-Marie-Tooth disease type 2 EDMD2 and CMD1A; modest and non-specific nuclear membrane alterations; the phenotype is entirely reversed by coexpression of the S-541 mutation and wild-type lamin-C [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_034710 RCV000057346 rs56673169 CA017637 RCV000015603 |
542 | K>N | Mandibuloacral dysplasia with type a lipodystrophy (mada) Mandibuloacral dysplasia with type A lipodystrophy HGPS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA10604088 RCV000268863 RCV000707697 rs886042329 |
543 | L>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA017642 rs267607613 RCV000454519 RCV001004948 RCV001174410 RCV001185752 RCV000057347 RCV000812762 RCV000785171 RCV001174246 RCV000208352 |
545 | R>C | Cardiomyopathy Charcot-Marie-Tooth disease Primary familial hypertrophic cardiomyopathy Congenital muscular dystrophy due to LMNA mutation Monogenic diabetes Charcot-Marie-Tooth disease type 2 Benign scapuloperoneal muscular dystrophy with cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000449630 RCV001101059 RCV001100810 RCV001101060 RCV000468904 RCV001101061 RCV001101057 RCV000621850 rs142191737 RCV001101058 RCV001781492 CA017649 RCV001101062 RCV001101055 RCV001248958 RCV000771819 RCV000150955 RCV000505801 RCV000491650 |
545 | R>H | Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Cardiomyopathy Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2B1 Lethal tight skin contracture syndrome Dilated cardiomyopathy 1S Benign scapuloperoneal muscular dystrophy with cardiomyopathy Peripheral neuropathy Hutchinson-Gilford syndrome Lipodystrophy Mandibuloacral dysplasia with type A lipodystrophy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1651784382 RCV001217605 |
547 | V>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001172622 rs201947393 RCV001806031 CA31014759 |
547 | V>M | Cardiomyopathy Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV001180630 rs1651784912 |
548 | T>P | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781774834 CA050866 RCV001040478 RCV001525577 |
549 | V>M | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1651785654 RCV002486307 RCV001325944 |
552 | D>A | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572367812 RCV000793293 |
553 | D>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000622473 RCV001183038 rs373671419 RCV000334194 RCV001172624 RCV000825772 CA050891 RCV000541582 |
553 | D>N | Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001179093 RCV001242082 CA342825602 RCV001760130 rs71630616 |
554 | E>K | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs141578711 RCV001188738 CA31014778 RCV001237588 |
555 | D>G | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1651789945 RCV001323211 |
557 | D>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1651789592 RCV001308774 |
557 | D>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1651791067 RCV001197026 |
560 | D>N | Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001856902 CA31014793 RCV000489890 rs1057156731 |
562 | L>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000797360 rs1195284382 CA342825888 RCV001007472 RCV001179798 |
566 | H>D | Cardiomyopathy Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553266460 RCV000192013 |
567 | G>missing | Hutchinson-Gilford syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001059431 rs1651856057 |
568 | S>C | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000617932 RCV000015612 RCV001248900 RCV002221478 RCV000041329 RCV000653881 CA020299 RCV002509159 RCV000015613 VAR_039789 RCV000057351 rs60890628 RCV000015614 RCV001188887 |
573 | S>L | Familial partial lipodystrophy, Dunnigan type Cardiomyopathy Charcot-Marie-Tooth disease type 2B1 Congenital muscular dystrophy due to LMNA mutation Familial partial lipodystrophy Mandibuloacral dysplasia with type A lipodystrophy, atypical Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A CMD1A, FPLD2 and MADA [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1439261714 RCV001184161 CA342826424 RCV000794266 RCV003133603 |
577 | A>T | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001509065 RCV000806558 RCV002397643 CA31015365 rs918645468 RCV002249518 |
582 | R>C | Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000015585 RCV000057353 VAR_009998 rs57830985 RCV001068657 RCV001804734 CA020309 RCV002399327 |
582 | R>H | Familial partial lipodystrophy, Dunnigan type Cardiomyopathy Charcot-Marie-Tooth disease type 2 FPLD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV002506519 RCV002404709 CA342826551 RCV001524890 RCV002533137 rs57830985 RCV000624034 |
582 | R>L | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs59601651 RCV001182287 RCV000618100 RCV002504960 CA020320 RCV000653858 RCV000057354 |
583 | S>L | Variant assessed as Somatic; 4.739e-05 impact. Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs59601651 CA020314 RCV001857534 RCV000155709 |
583 | S>W | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001179519 rs1651858164 |
584 | R>missing | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001177888 RCV002404567 RCV002497194 CA051232 RCV003129919 RCV000556267 rs578193315 |
584 | R>C | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001065506 rs56657623 RCV000041330 RCV001184222 RCV002467559 CA020327 RCV000057355 RCV003162351 RCV002504919 |
584 | R>H | Familial partial lipodystrophy, Dunnigan type Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA051263 RCV000656219 RCV002476258 RCV001251364 rs758048062 RCV002404581 RCV001509066 RCV000686535 |
586 | V>M | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Wolff-Parkinson-White pattern Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs372201662 RCV000761683 CA051298 RCV001855705 RCV001184252 |
589 | G>R | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000192014 rs797044486 CA347053 |
591 | C>S | Hutchinson-Gilford syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786205448 RCV001852060 RCV000171159 CA020375 RCV002399611 RCV002485086 |
592 | G>R | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000992277 RCV001526033 rs769561386 CA051326 RCV000503392 RCV000653834 |
596 | D>N | Cardiomyopathy Charcot-Marie-Tooth disease type 2 Muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs774494686 RCV001226487 CA051336 |
598 | A>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000057361 RCV000041334 VAR_064976 rs60662302 RCV000148601 CA014839 RCV001088263 RCV000771799 RCV000617798 |
602 | G>S | Insulin-resistant diabetes mellitus AND acanthosis nigricans Cardiomyopathy Charcot-Marie-Tooth disease type 2 EDMD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1651865626 RCV001036139 |
604 | G>E | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1651866656 RCV001181477 |
606 | Q>R | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064796394 RCV001851252 RCV000486027 |
607 | V>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs61064130 RCV003117668 RCV001805960 CA342827089 |
608 | G>C | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA015235 RCV000057363 rs61064130 VAR_017664 RCV000015595 |
608 | G>S | Hutchinson-Gilford syndrome HGPS; reduced binding to SUN1; may affect splicing by activating a cryptic splice donor site [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001852840 CA015305 RCV003162352 RCV002483028 RCV000041335 rs397517898 RCV001804765 |
609 | G>R | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1651868666 RCV001176727 RCV001875822 |
612 | S>F | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001325514 rs1651869846 |
619 | S>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001572302 CA051434 RCV002493155 RCV001191647 RCV000687429 RCV001193913 rs765594825 RCV002406543 |
621 | T>M | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001183044 rs757888891 RCV002411172 CA051454 RCV000386992 |
623 | T>A | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs59267781 RCV000192021 CA015242 RCV000057366 |
623 | T>S | Hutchinson-Gilford syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000148610 rs140455668 RCV002228535 CA014860 RCV001351839 |
624 | R>C | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000057367 RCV002514283 RCV001182170 CA015260 rs13768 VAR_039791 RCV001046717 |
624 | R>H | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Charcot-Marie-Tooth disease type 2 Inborn genetic diseases EDMD2 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs398124550 CA051489 RCV001183076 RCV000691653 |
625 | S>C | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001185275 RCV000822504 RCV000622044 RCV002498997 rs1553266553 CA658795542 |
625 | S>P | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001190909 rs777841827 RCV002406473 RCV000653883 CA051516 RCV001358761 RCV001528327 |
627 | R>C | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs745997478 RCV002478614 CA015282 RCV000182375 RCV000769734 RCV000801285 |
627 | R>H | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA051536 rs745997478 RCV001317497 |
627 | R>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs267607648 RCV001234890 |
631 | G>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_072826 rs267607648 CA014872 RCV000148611 RCV000057370 |
631 | G>D | Metabolic disease probable disease-associated variant found in a patient with metabolic syndrome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD |
|
RCV001796223 RCV002487655 RCV001190939 RCV000793797 CA31015646 rs951584348 |
631 | G>S | Cardiomyopathy Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1470825986 RCV001180898 CA342827760 |
634 | G>D | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10584136 rs879254188 RCV000235820 RCV001226648 |
634 | G>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000702617 CA026527 RCV001177162 rs117939448 |
637 | F>L | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000041338 RCV001084443 CA015346 RCV001188113 RCV000725381 rs144851946 |
638 | G>R | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000697379 CA342827903 rs1558135357 |
639 | D>E | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1572369800 RCV001177384 CA342827894 RCV002558849 |
639 | D>G | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA051671 RCV000533234 RCV000658526 rs752598065 |
640 | N>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1651878365 RCV001191653 |
641 | L>R | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777900936 CA051693 RCV001052575 |
643 | T>I | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA342828008 RCV000790319 rs777900936 |
643 | T>N | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000755679 RCV000771143 RCV003224100 RCV000015626 RCV000144868 CA014882 RCV000057374 RCV000041340 RCV000245284 VAR_039792 RCV000148602 RCV001084244 RCV002467497 RCV001174411 COSM897122 rs142000963 |
644 | R>C | Familial partial lipodystrophy, Dunnigan type Cardiomyopathy Charcot-Marie-Tooth disease Monogenic diabetes endometrium Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A Variant of unknown significance HGPS and EDMD2; unknown pathological significance; partially inhibits tail cleavage [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000245708 RCV000769735 RCV000148599 RCV000182377 RCV001079490 rs368386019 RCV001330501 RCV000725647 CA014889 |
644 | R>H | Cardiomyopathy Congenital muscular dystrophy Lethal tight skin contracture syndrome Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1651880438 RCV001192243 |
648 | L>R | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002462154 RCV000799271 CA31015708 rs775728847 |
650 | N>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002483090 RCV001035240 rs267607544 RCV000057375 RCV001257939 CA015200 RCV002415511 |
654 | R>* | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003130171 RCV001183493 CA051755 RCV001172623 RCV001298870 rs768986279 |
654 | R>Q | Cardiomyopathy Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001051453 rs863225024 RCV000201023 RCV000057376 RCV002415512 |
655 | T>missing | Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001863150 RCV001289081 rs1651905151 |
657 | S>N | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002418036 RCV000727363 RCV001079513 RCV001184766 CA051914 rs374926367 |
660 | N>D | Cardiomyopathy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA051948 rs748348868 RCV000685536 |
664 | M>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs267607546 RCV000057213 |
1 | M>missing | No |
ClinVar dbSNP |
|
|
CA30999031 rs11549669 |
2 | E>G | No |
ClinGen Ensembl |
|
|
CA342805889 rs1183004393 |
3 | T>A | No |
ClinGen gnomAD |
|
|
rs1235021953 CA342805913 |
3 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA342805944 rs267607620 |
4 | P>L | No |
ClinGen gnomAD |
|
|
rs1477323839 CA342805924 |
4 | P>T | No |
ClinGen gnomAD |
|
|
CA050495 rs766624427 |
5 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1397676761 CA342805997 |
7 | R>W | No |
ClinGen gnomAD |
|
|
rs58727209 RCV000057386 |
10 | T>missing | No |
ClinVar dbSNP |
|
|
RCV000057389 rs60029152 |
11 | R>missing | No |
ClinVar dbSNP |
|
|
CA342806862 rs755465323 |
11 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA052212 rs755465323 |
11 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs781684338 CA053324 |
13 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA342806948 rs781684338 |
13 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs755617982 CA053373 |
14 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1256334293 CA342806969 |
14 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA053561 rs770799870 |
16 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs868507025 CA30999057 |
16 | A>S | No |
ClinGen Ensembl |
|
|
rs770799870 CA342807040 |
16 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs794726921 RCV000173379 |
17 | S>missing | No |
ClinVar dbSNP |
|
|
rs1270279299 CA342807048 |
17 | S>R | No |
ClinGen gnomAD |
|
|
rs1200971610 CA342807125 |
19 | T>I | No |
ClinGen gnomAD |
|
|
CA30999062 rs866007080 |
21 | L>M | No |
ClinGen Ensembl |
|
|
rs886043745 RCV000389639 |
22 | S>missing | No |
ClinVar dbSNP |
|
|
rs794728599 CA018394 RCV000182379 |
22 | S>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA342807222 rs1420908351 |
23 | P>L | No |
ClinGen gnomAD |
|
|
CA342807226 rs1461165954 |
24 | T>A | No |
ClinGen gnomAD |
|
|
CA342807236 rs1195524446 |
24 | T>I | No |
ClinGen TOPMed |
|
|
CA342807269 rs1302425397 |
26 | I>L | No |
ClinGen gnomAD |
|
|
RCV000182380 CA018621 rs794728600 |
26 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA342807270 rs1302425397 |
26 | I>V | No |
ClinGen gnomAD |
|
|
CA30999102 rs1038281766 |
29 | L>M | No |
ClinGen TOPMed |
|
| rs60872029 | 32 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10604308 rs886042491 RCV000278648 |
34 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000057226 CA016550 rs267607601 |
36 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 36 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000057249 CA016791 rs267607627 |
39 | N>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA342807746 rs1060502215 RCV000994130 |
41 | R>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10605149 rs267607608 RCV000320512 |
47 | D>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs769977710 CA050260 |
48 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000235498 rs879254200 CA10584110 |
49 | V>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000081302 CA017346 rs59931416 |
50 | R>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1366035491 CA342808005 |
51 | S>W | No |
ClinGen gnomAD |
|
|
RCV000057322 rs267607611 CA017440 |
52 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs60290646 CA017546 RCV000057334 |
53 | E>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1064793882 RCV000486297 |
55 | E>missing | No |
ClinVar dbSNP |
|
|
rs28928903 CA342808068 |
57 | A>T | No |
ClinGen gnomAD |
|
|
CA342808078 rs1382881329 |
58 | G>V | No |
ClinGen gnomAD |
|
|
rs794728601 CA017735 RCV000182381 |
60 | R>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs57793737 RCV000173378 CA017754 |
63 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA342808154 rs1168314722 |
65 | E>K | No |
ClinGen TOPMed |
|
|
rs267607586 RCV000057379 |
68 | E>missing | No |
ClinVar dbSNP |
|
|
rs1205208123 CA342808232 |
69 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs954945844 CA30999197 |
70 | V>L | No |
ClinGen TOPMed |
|
|
CA30999202 rs17847247 |
72 | R>G | No |
ClinGen gnomAD |
|
|
CA052059 rs745651340 |
76 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA052075 rs771893681 |
80 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs59270054 CA342808417 |
82 | E>Q | No |
ClinGen TOPMed |
|
|
CA052136 rs768678385 |
86 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1337692832 CA342808495 |
87 | D>V | No |
ClinGen gnomAD |
|
|
rs869025455 RCV000726266 CA10606294 |
88 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs267607559 RCV000057382 CA017826 |
89 | R>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs59040894 CA017833 RCV000041342 |
89 | R>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA342808573 rs1318061717 |
93 | D>N | No |
ClinGen gnomAD |
|
|
rs773451393 CA052160 |
96 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA342808666 rs886045364 |
99 | R>C | No |
ClinGen gnomAD |
|
|
rs267607568 CA342808698 |
101 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
RCV000492819 rs1131691980 CA342808718 |
103 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000725536 rs886042953 CA10604915 |
104 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1553262013 RCV000598208 |
107 | S>missing | No |
ClinVar dbSNP |
|
|
CA052222 rs771065515 |
108 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000182384 rs794728603 |
110 | R>missing | No |
ClinVar dbSNP |
|
|
CA342808826 rs1064797121 |
110 | R>C | No |
ClinGen gnomAD |
|
|
rs61726475 RCV000057390 CA017904 |
111 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000041343 rs61726475 CA017897 |
111 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000182353 rs794728587 CA017916 |
112 | E>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs794728604 RCV000182385 |
114 | K>* | No |
ClinVar dbSNP |
|
|
rs767902515 CA052253 |
114 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs727503134 RCV000150936 CA017924 |
115 | E>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 118 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342808909 rs397517902 |
119 | R>H | No |
ClinGen gnomAD |
|
|
RCV000767136 CA017961 rs397517902 RCV000041347 |
119 | R>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA31007899 rs763717410 |
120 | N>K | No |
ClinGen Ensembl |
|
|
rs543011658 CA31007904 |
121 | T>A | No |
ClinGen 1000Genomes |
|
|
CA053265 rs757961893 |
121 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1222398892 CA342814991 |
122 | K>E | No |
ClinGen TOPMed |
|
|
CA342815065 rs1406523929 |
125 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA342815074 rs1351159308 |
126 | D>N | No |
ClinGen gnomAD |
|
|
CA342815089 rs1428192739 |
127 | L>V | No |
ClinGen gnomAD |
|
|
rs794728605 RCV000182386 |
128 | I>missing | No |
ClinVar dbSNP |
|
|
rs1338283666 CA342815101 |
128 | I>V | No |
ClinGen TOPMed |
|
|
RCV000057397 rs61726478 CA018026 |
132 | A>P | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs61726478 CA053334 |
132 | A>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000236161 rs879253923 CA10584116 |
136 | D>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000057400 rs267607619 CA018058 |
136 | D>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000235903 CA10584117 rs879254302 |
137 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs58912633 CA342815365 |
143 | S>C | No |
ClinGen Ensembl |
|
|
CA31008035 rs796164235 |
146 | A>D | No |
ClinGen Ensembl |
|
|
RCV000236939 rs879253929 CA10584118 |
148 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10576365 RCV000220590 rs869069617 |
150 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA342815462 RCV000591131 rs766291714 |
151 | A>P | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs766291714 CA053473 |
151 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA053495 rs775448051 |
155 | K>T | No |
ClinGen ExAC |
|
|
rs764475194 CA053518 |
156 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 159 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs267607622 CA018134 RCV000057408 |
159 | E>K | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA342815561 rs267607622 |
159 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA053555 rs750755990 |
160 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA053550 rs765665953 |
160 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1458548662 CA342815614 |
163 | H>N | No |
ClinGen gnomAD |
|
|
rs1458548662 CA342815618 |
163 | H>Y | No |
ClinGen gnomAD |
|
|
CA053588 rs751033102 |
164 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1553264656 RCV000594221 CA342815647 |
165 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA342815672 rs1285913191 |
167 | G>D | No |
ClinGen gnomAD |
|
|
rs1371187616 CA342815689 |
168 | Q>R | No |
ClinGen gnomAD |
|
|
rs267607595 RCV000057505 |
169 | V>missing | No |
ClinVar dbSNP |
|
|
CA342816732 rs1221864074 |
174 | A>T | No |
ClinGen gnomAD |
|
|
rs794728606 RCV000182387 |
175 | A>missing | No |
ClinVar dbSNP |
|
|
rs369714176 CA31010872 |
175 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA342816748 rs1221308747 |
177 | G>R | No |
ClinGen gnomAD |
|
|
rs1271398936 CA342816767 |
180 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 180 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA053711 rs574749413 |
183 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA018215 rs267607583 RCV000057415 |
183 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs61726479 CA018221 RCV000057416 |
186 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA018228 rs1553265149 |
187 | M>L | No |
ClinGen Ensembl |
|
|
rs267607628 RCV000057420 |
190 | R>missing | No |
ClinVar dbSNP |
|
|
CA342816898 rs267607571 |
190 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA342816929 rs1417182942 |
192 | D>E | No |
ClinGen gnomAD |
|
|
RCV000182388 rs794728607 |
196 | R>missing | No |
ClinVar dbSNP |
|
|
rs1323078472 TCGA novel CA342817009 |
200 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
RCV000490224 CA342817053 rs1085307888 |
207 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs62636507 RCV000057434 |
209 | N>missing | No |
ClinVar dbSNP |
|
|
RCV000041358 rs397517905 CA018358 |
215 | L>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs757041809 CA342817127 |
216 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10604934 rs886042966 RCV000317165 |
218 | T>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs778798942 CA054023 |
219 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs267607584 CA054037 |
219 | K>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000057439 CA018400 rs267607584 |
219 | K>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA018406 RCV000178243 rs372567202 |
221 | R>P | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs773349450 CA054093 |
230 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11549666 CA31011392 |
231 | N>H | No |
ClinGen Ensembl |
|
|
CA10605464 RCV000393197 rs886043393 |
231 | N>K | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs201227908 CA054154 |
235 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201227908 CA054141 |
235 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA342817281 rs1572359925 |
243 | D>G | No |
ClinGen Ensembl |
|
|
CA342817277 rs1165819867 |
243 | D>N | No |
ClinGen TOPMed |
|
|
CA342817285 rs201866557 |
244 | A>P | No |
ClinGen gnomAD |
|
|
rs201866557 CA018505 RCV000172000 |
244 | A>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
RCV000182363 CA018517 rs794728592 |
246 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000733645 CA342817332 rs1558129589 |
252 | H>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs764738988 CA054278 |
253 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA342817345 rs1240651706 |
254 | D>A | No |
ClinGen Ensembl |
|
|
CA018607 rs60578328 RCV000057456 |
259 | Y>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000057455 rs60578328 CA018600 |
259 | Y>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
| VAR_039773 | 260 | K>N | CMDA1 [UniProt] | No | UniProt |
|
RCV000353946 rs886041211 |
262 | E>missing | No |
ClinVar dbSNP |
|
|
rs1182407083 CA342817407 |
262 | E>D | No |
ClinGen TOPMed |
|
|
RCV000057460 CA018640 rs267607625 |
263 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA054302 rs750246389 |
263 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342817456 RCV001836884 rs267607631 |
270 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA342817453 rs1303880946 |
270 | K>R | No |
ClinGen gnomAD |
|
|
RCV000057472 rs267607616 |
272 | D>missing | No |
ClinVar dbSNP |
|
|
CA054525 rs754020721 |
273 | N>D | No |
ClinGen ExAC |
|
|
rs1346469716 CA342817511 |
277 | S>F | No |
ClinGen TOPMed |
|
|
rs886042122 RCV000360422 CA10603836 |
277 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000483218 rs1064794966 |
279 | E>missing | No |
ClinVar dbSNP |
|
|
rs1301687971 CA342817548 |
282 | S>G | No |
ClinGen gnomAD |
|
|
rs1572360870 CA342817594 |
285 | V>G | No |
ClinGen Ensembl |
|
|
CA342817620 rs1221555471 |
287 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs794728594 RCV000182365 CA018791 |
291 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1024051591 CA31011841 COSM675676 |
296 | R>H | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA342817768 rs1024051591 |
296 | R>L | No |
ClinGen TOPMed |
|
|
CA31011856 rs762653476 |
298 | R>H | No |
ClinGen Ensembl |
|
|
RCV000057480 rs267607684 CA018821 |
299 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA31011869 rs79907212 |
300 | D>A | No |
ClinGen Ensembl |
|
|
rs546272425 CA342817833 |
301 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA054656 rs546272425 |
301 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA342817869 rs1369381913 |
303 | S>F | No |
ClinGen gnomAD |
|
|
CA342817873 rs1296679109 |
304 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 307 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759249597 CA054668 |
307 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA342817992 rs1321220871 |
308 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA31012917 rs769498020 |
314 | A>T | No |
ClinGen Ensembl |
|
|
rs1331603475 CA342819742 |
314 | A>V | No |
ClinGen gnomAD |
|
|
rs1366403375 CA342819787 |
316 | K>E | No |
ClinGen TOPMed |
|
|
CA10581125 RCV000223858 rs56816490 |
317 | E>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs3209921 CA31012963 |
320 | L>F | No |
ClinGen Ensembl |
|
|
rs1180922815 CA342819977 |
321 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1651541047 RCV001812288 |
322 | D>N | No |
ClinVar dbSNP |
|
|
RCV000223918 rs876661352 |
323 | L>missing | No |
ClinVar dbSNP |
|
|
RCV000182390 rs794728609 |
325 | D>missing | No |
ClinVar dbSNP |
|
|
rs1553265630 RCV000599487 |
327 | L>missing | No |
ClinVar dbSNP |
|
|
rs1572362631 RCV001009060 |
328 | A>missing | No |
ClinVar dbSNP |
|
|
RCV000057496 CA018942 rs59301204 |
331 | R>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1308777587 CA342820166 |
333 | T>A | No |
ClinGen gnomAD |
|
|
CA342820165 rs1308777587 |
333 | T>P | No |
ClinGen gnomAD |
|
|
RCV000489057 rs763069566 CA342820169 |
333 | T>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs756538414 CA048798 |
339 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA31013045 rs11549667 |
341 | K>T | No |
ClinGen Ensembl |
|
|
rs1449688220 CA342820250 |
347 | E>A | No |
ClinGen TOPMed |
|
|
rs58789393 CA342820264 |
349 | R>Q | No |
ClinGen gnomAD |
|
|
CA016496 RCV000057220 rs267607610 |
350 | A>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA342820267 rs267607610 |
350 | A>T | No |
ClinGen gnomAD |
|
|
CA048892 rs779749639 |
351 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA016511 RCV000057222 rs267607623 |
353 | Q>K | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA048908 rs267607617 |
355 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
RCV000057224 rs267607635 |
355 | Q>missing | No |
ClinVar dbSNP |
|
|
CA016561 rs60458016 RCV000057228 |
358 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1064796677 CA16617001 RCV000481311 |
360 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA342820411 rs1226327804 |
366 | K>E | No |
ClinGen TOPMed |
|
|
CA342820467 rs1229847240 |
370 | D>G | No |
ClinGen gnomAD |
|
|
rs143715750 CA31013150 |
374 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs879254162 RCV001193914 |
375 | A>S | No |
ClinVar dbSNP |
|
|
rs1131691263 CA342820546 RCV000493512 |
376 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000057232 rs267607624 |
378 | K>missing | No |
ClinVar dbSNP |
|
|
RCV000057238 rs267607558 CA016680 |
381 | E>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA342820628 rs1246009561 |
382 | G>D | No |
ClinGen gnomAD |
|
|
CA342820643 RCV000994133 rs1448774273 |
383 | E>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs879253913 RCV000236295 |
384 | E>missing | No |
ClinVar dbSNP |
|
|
CA016743 rs267607545 RCV000057244 |
386 | R>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000248263 rs267607545 CA10587419 |
386 | R>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000057248 CA016782 rs267607562 |
387 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 389 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342820807 RCV000593452 rs1553265802 |
389 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA342820834 rs1436409162 |
391 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 392 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342820879 rs1045472115 |
392 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA016840 RCV000057254 rs61693978 |
396 | Q>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1206200858 CA342821026 |
400 | G>S | No |
ClinGen TOPMed |
|
|
rs61094188 CA342821054 |
401 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA049483 rs769064643 |
402 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA31013480 rs758278487 |
405 | H>R | No |
ClinGen Ensembl |
|
|
RCV000503022 rs1553265847 CA342821293 |
412 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs766811975 CA049571 |
413 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481070980 CA342821372 |
416 | T>A | No |
ClinGen gnomAD |
|
|
rs1572364243 RCV000788476 |
421 | L>missing | No |
ClinVar dbSNP |
|
|
rs1448275854 CA342821499 |
422 | E>Q | No |
ClinGen gnomAD |
|
|
RCV000850298 rs1166140426 CA342821536 |
424 | T>P | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| VAR_072824 | 427 | R>G | found in patients with skeletal and cardiac muscular dystrophies; unknown pathological significance; no effect on nuclear lamin A localization; no effect on the interaction with SYNE2 [UniProt] | No | UniProt |
|
CA342821617 rs747139279 |
427 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA342821679 rs1303965269 |
430 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA342821681 rs1303965269 |
430 | F>V | No |
ClinGen gnomAD |
|
|
CA342821747 rs1373051908 |
433 | H>Y | No |
ClinGen gnomAD |
|
|
CA342821799 rs1308186117 |
434 | A>V | No |
ClinGen gnomAD |
|
|
rs773638171 CA049789 |
436 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1255332623 CA342821841 |
437 | S>C | No |
ClinGen gnomAD |
|
|
CA342821904 rs1171976101 |
439 | R>H | No |
ClinGen gnomAD |
|
|
CA342821959 rs1460631717 |
441 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1553265897 RCV000592854 |
441 | A>missing | No |
ClinVar dbSNP |
|
|
rs1558132218 CA342821995 |
443 | E>A | No |
ClinGen Ensembl |
|
|
rs545531053 CA049911 |
444 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA342822041 rs1572364613 |
445 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 446 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342822075 rs1572364642 |
447 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 448 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000057282 rs267607549 |
457 | K>missing | No |
ClinVar dbSNP |
|
|
CA342822397 rs1278554399 |
461 | D>E | No |
ClinGen gnomAD |
|
|
rs778099589 CA050198 |
463 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA31014100 rs778099589 |
463 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771095582 CA050223 |
464 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1281896947 CA342822432 |
464 | M>T | No |
ClinGen gnomAD |
|
|
CA342822460 rs1159123077 |
466 | N>S | No |
ClinGen gnomAD |
|
|
CA342822488 rs1233174265 |
468 | Q>* | No |
ClinGen gnomAD |
|
|
rs886042754 CA10604642 RCV000337612 |
472 | Q>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 474 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342822602 rs1558132826 |
476 | D>E | No |
ClinGen Ensembl |
|
|
CA10587417 rs886039032 RCV000245044 |
476 | D>Y | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
RCV000057297 rs56935051 CA017252 |
481 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA017245 RCV000041317 rs397517893 |
481 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA342822707 rs1171952174 |
485 | P>L | No |
ClinGen TOPMed |
|
|
VAR_072825 CA017289 RCV000057303 rs267607607 |
488 | T>P | found in patient with atrial fibrillation [UniProt] | No |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1356585338 CA342822775 |
491 | A>S | No |
ClinGen gnomAD |
|
|
CA050280 rs373480082 CA342822786 |
492 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs760277884 CA342822809 |
494 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs886044657 RCV000347929 CA10607025 |
497 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1227841531 CA342822952 |
498 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
RCV000057310 rs267607585 CA017351 |
498 | W>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000057313 rs267607580 |
499 | A>missing | No |
ClinVar dbSNP |
|
|
rs60556110 RCV000057311 |
499 | A>missing | No |
ClinVar dbSNP |
|
|
CA342822971 rs1272267171 |
499 | A>T | No |
ClinGen gnomAD |
|
|
CA31014311 rs996785044 |
500 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA31014317 rs1050818529 |
501 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA050509 rs545393299 |
503 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA050547 rs769637371 |
504 | A>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000057315 rs267607553 |
505 | T>missing | No |
ClinVar dbSNP |
|
|
RCV000057316 CA017396 rs267607565 |
506 | H>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA342823154 rs762847359 |
509 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA050577 rs766120841 |
509 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA050569 rs762847359 |
509 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879254163 RCV000236269 CA10584132 |
510 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs58013325 | 510 | T>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553266098 RCV000598750 |
512 | L>missing | No |
ClinVar dbSNP |
|
|
CA10584133 RCV000235628 rs879254082 |
514 | W>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA342823291 rs1318350884 |
516 | A>V | No |
ClinGen gnomAD |
|
|
rs41314035 CA342823303 |
517 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342823298 rs1327713289 |
517 | Q>R | No |
ClinGen gnomAD |
|
|
rs794728595 RCV000182370 RCV002399656 CA017446 |
520 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000057320 rs267607557 CA017427 |
520 | W>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000182371 CA017452 rs794728596 |
521 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10587415 RCV000250959 rs149339264 |
522 | C>* | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA342823388 rs1553266145 |
522 | C>S | No |
ClinGen Ensembl |
|
|
CA342823411 rs1258786011 |
523 | G>V | No |
ClinGen gnomAD |
|
|
rs1572366608 RCV000788320 |
527 | R>missing | No |
ClinVar dbSNP |
|
|
RCV000057325 rs58571998 |
527 | R>missing | No |
ClinVar dbSNP |
|
|
rs1187380696 CA342823492 |
528 | T>A | No |
ClinGen gnomAD |
|
|
rs1187380696 CA342823494 RCV000593248 |
528 | T>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs780302064 CA050702 |
530 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA342823548 rs1464388906 |
531 | I>N | No |
ClinGen TOPMed |
|
|
CA342823542 rs1171883549 |
531 | I>V | No |
ClinGen TOPMed |
|
|
RCV000594291 rs1553266165 |
531 | I>missing | No |
ClinVar dbSNP |
|
|
rs991757837 CA31014417 |
532 | N>S | No |
ClinGen Ensembl |
|
|
CA342823594 rs1386416200 |
533 | S>F | No |
ClinGen gnomAD |
|
|
CA017552 rs144740174 RCV000182397 |
534 | T>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1311820114 CA342823604 RCV000520266 RCV002404351 |
534 | T>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs144740174 CA050711 |
534 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs932531070 CA342825285 |
537 | E>K | No |
ClinGen gnomAD |
|
|
rs932531070 CA31014678 |
537 | E>Q | No |
ClinGen gnomAD |
|
|
rs766555060 CA050838 |
538 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1439990721 CA342825322 |
539 | A>T | No |
ClinGen gnomAD |
|
|
rs1483755859 CA342825337 |
540 | M>L | No |
ClinGen TOPMed |
|
|
rs1229918440 CA342825389 |
542 | K>R | No |
ClinGen gnomAD |
|
|
RCV000487091 rs1064793674 |
544 | V>missing | No |
ClinVar dbSNP |
|
|
rs1334619174 CA342825414 |
544 | V>M | No |
ClinGen gnomAD |
|
|
rs886038995 CA10587422 RCV000248129 |
546 | S>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA342825596 rs748768783 CA342825598 |
553 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA342825580 rs373671419 RCV000596766 |
553 | D>Y | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs71630616 CA31014770 |
554 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA342825645 rs1362789151 |
555 | D>E | No |
ClinGen gnomAD |
|
|
rs1451605729 CA342825627 |
555 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 557 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342825733 rs1291684348 |
559 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1355131059 CA342825753 |
560 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 563 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342825856 rs1215740582 |
564 | H>Q | No |
ClinGen gnomAD |
|
|
CA342825843 rs1315598232 |
564 | H>Y | No |
ClinGen gnomAD |
|
|
rs1259559222 CA342825864 |
565 | H>D | No |
ClinGen gnomAD |
|
|
rs1195284382 CA342825886 |
566 | H>N | No |
ClinGen gnomAD |
|
|
CA342826219 rs1461682345 |
567 | G>D | No |
ClinGen gnomAD |
|
|
CA342826309 rs1250355311 |
571 | S>T | No |
ClinGen TOPMed |
|
|
CA020303 rs61224243 VAR_039790 RCV000057352 |
578 | E>V | an atypical progeroid patient; diagnosed as Werner syndrome [UniProt] | No |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA31015400 rs909711414 |
585 | T>I | No |
ClinGen TOPMed |
|
|
rs1252289177 CA342826616 |
587 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
RCV000057356 rs267607621 CA020344 |
588 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1039562181 CA31015424 |
590 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA342826682 rs1162992778 |
590 | T>S | No |
ClinGen TOPMed |
|
|
CA342826708 rs397517897 |
591 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
rs267607556 CA020359 RCV000057358 |
591 | C>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1164745437 CA342826740 |
593 | Q>R | No |
ClinGen gnomAD |
|
|
CA342826920 rs1290479309 |
600 | A>V | No |
ClinGen TOPMed |
|
|
CA342826932 rs1324173045 |
601 | S>N | No |
ClinGen gnomAD |
|
|
CA342827039 rs1275203690 |
606 | Q>* | No |
ClinGen TOPMed |
|
|
CA342827119 rs1268650204 |
609 | G>E | No |
ClinGen TOPMed |
|
|
rs761166160 CA051392 |
612 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs147627124 CA051404 |
613 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342827248 rs1446516620 |
614 | G>S | No |
ClinGen gnomAD |
|
|
CA10584135 rs879253982 RCV000236810 |
615 | S>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1216664557 CA342827313 |
616 | S>F | No |
ClinGen gnomAD |
|
|
CA342827394 rs1187655257 |
620 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs13768 CA31015561 |
624 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs398124550 CA342827495 |
625 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs398124550 RCV000082684 CA015267 |
625 | S>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA015276 rs398124551 RCV000082685 |
625 | S>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA31015586 rs138208127 |
626 | Y>C | No |
ClinGen 1000Genomes gnomAD |
|
|
CA051562 rs747253572 |
628 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA051584 rs768700201 |
629 | V>G | No |
ClinGen ExAC |
|
|
CA342827625 rs1288315740 |
629 | V>L | No |
ClinGen gnomAD |
|
|
CA342827652 CA342827648 rs1210438591 |
630 | G>R | No |
ClinGen gnomAD |
|
|
CA051601 rs762077332 |
630 | G>V | No |
ClinGen ExAC gnomAD |
|
| rs770335541 | 632 | S>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342827718 rs1572369725 |
632 | S>R | No |
ClinGen Ensembl |
|
|
CA342827739 rs1363694601 |
633 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 634 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000730307 COSM1668050 CA342827768 rs1470825986 |
634 | G>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs267607612 RCV000057371 CA015312 |
635 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs765905188 CA051634 |
637 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA342827861 rs144851946 |
638 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA051683 rs551309521 RCV000733311 |
642 | V>I | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA342827987 rs1572369826 |
643 | T>P | No |
ClinGen Ensembl |
|
|
rs142000963 RCV000057373 CA015174 |
644 | R>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA342828500 rs1380231225 |
658 | P>S | No |
ClinGen TOPMed |
|
|
CA342828542 rs1422544256 |
659 | Q>H | No |
ClinGen gnomAD |
|
|
CA051920 rs781516147 |
663 | I>V | No |
ClinGen ExAC gnomAD |
12 associated diseases with P02545
[MIM: 181350]: Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269|PubMed:22431096, ECO:0000269|PubMed:27234031}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 616516]: Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3)
A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269|PubMed:22431096, ECO:0000269|PubMed:27234031}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 115200]: Cardiomyopathy, dilated 1A (CMD1A)
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:10580070, ECO:0000269|PubMed:11561226, ECO:0000269|PubMed:11792809, ECO:0000269|PubMed:11897440, ECO:0000269|PubMed:12486434, ECO:0000269|PubMed:12628721, ECO:0000269|PubMed:12920062, ECO:0000269|PubMed:14675861, ECO:0000269|PubMed:14684700, ECO:0000269|PubMed:15140538, ECO:0000269|PubMed:15219508, ECO:0000269|PubMed:15372542, ECO:0000269|PubMed:16061563, ECO:0000269|PubMed:18606848, ECO:0000269|PubMed:19167105, ECO:0000269|PubMed:20160190, ECO:0000269|PubMed:21846512}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 151660]: Lipodystrophy, familial partial, 2 (FPLD2)
A disorder characterized by the loss of subcutaneous adipose tissue in the lower parts of the body (limbs, buttocks, trunk). It is accompanied by an accumulation of adipose tissue in the face and neck causing a double chin, fat neck, or cushingoid appearance. Adipose tissue may also accumulate in the axillae, back, labia majora, and intraabdominal region. Affected patients are insulin-resistant and may develop glucose intolerance and diabetes mellitus after age 20 years, hypertriglyceridemia, and low levels of high density lipoprotein cholesterol. {ECO:0000269|PubMed:10587585, ECO:0000269|PubMed:10655060, ECO:0000269|PubMed:10739751, ECO:0000269|PubMed:11792809, ECO:0000269|PubMed:12015247, ECO:0000269|PubMed:12196663, ECO:0000269|PubMed:12629077, ECO:0000269|PubMed:15372542, ECO:0000269|PubMed:17250669, ECO:0000269|PubMed:19220582, ECO:0000269|PubMed:24485160}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 605588]: Charcot-Marie-Tooth disease 2B1 (CMT2B1)
A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology
[MIM: 176670]: Hutchinson-Gilford progeria syndrome (HGPS)
Rare genetic disorder characterized by features reminiscent of marked premature aging. {ECO:0000269|PubMed:12714972, ECO:0000269|PubMed:12768443, ECO:0000269|PubMed:12927431, ECO:0000269|PubMed:15060110, ECO:0000269|PubMed:15286156, ECO:0000269|PubMed:15622532, ECO:0000269|PubMed:19933576, ECO:0000269|PubMed:21791255, ECO:0000269|PubMed:22355414, ECO:0000269|PubMed:23666920}. Note=The disease is caused by variants affecting the gene represented in this entry. HGPS is caused by the toxic accumulation of a truncated form of lamin-A/C. This mutant protein, called progerin (isoform 6), acts to deregulate mitosis and DNA damage signaling, leading to premature cell death and senescence. The mutant form is mainly generated by a silent or missense mutation at codon 608 of prelamin A that causes activation of a cryptic splice donor site, resulting in production of isoform 6 with a deletion of 50 amino acids near the C terminus. Progerin lacks the conserved ZMPSTE24/FACE1 cleavage site and therefore remains permanently farnesylated. Thus, although it can enter the nucleus and associate with the nuclear envelope, it cannot incorporate normally into the nuclear lamina (PubMed:12714972). {ECO:0000269|PubMed:12714972}.
[MIM: 212112]: Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH)
A disorder characterized by the association of genital anomalies, hypergonadotropic hypogonadism and dilated cardiomyopathy. Patients can present other variable clinical manifestations including intellectual disability, skeletal anomalies, scleroderma-like skin, graying and thinning of hair, osteoporosis. Dilated cardiomyopathy is characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. {ECO:0000269|PubMed:12927431, ECO:0000269|PubMed:17150192, ECO:0000269|PubMed:19283854}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 248370]: Mandibuloacral dysplasia with type A lipodystrophy (MADA)
A form of mandibuloacral dysplasia, a rare progeroid disorder with clinical and genetic heterogeneity, characterized by growth retardation, craniofacial dysmorphic features due to distal bone resorption, musculoskeletal and skin abnormalities associated with lipodystrophy. MADA is an autosomal recessive disease characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid appearance, partial alopecia, soft tissue calcinosis, joint contractures, and partial lipodystrophy with loss of subcutaneous fat from the extremities. Adipose tissue in the face, neck and trunk is normal or increased. {ECO:0000269|PubMed:12075506, ECO:0000269|PubMed:15998779, ECO:0000269|PubMed:16278265}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 619793]: Restrictive dermopathy 2 (RSDM2)
An autosomal dominant form of restrictive dermopathy, a genodermatosis mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism, sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. {ECO:0000269|PubMed:15317753}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 610140]: Heart-hand syndrome Slovenian type (HHS-Slovenian)
Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations. {ECO:0000269|PubMed:18611980}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613205]: Muscular dystrophy congenital LMNA-related (MDCL)
A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures. {ECO:0000269|PubMed:18551513}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269|PubMed:22431096, ECO:0000269|PubMed:27234031}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269|PubMed:22431096, ECO:0000269|PubMed:27234031}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:10580070, ECO:0000269|PubMed:11561226, ECO:0000269|PubMed:11792809, ECO:0000269|PubMed:11897440, ECO:0000269|PubMed:12486434, ECO:0000269|PubMed:12628721, ECO:0000269|PubMed:12920062, ECO:0000269|PubMed:14675861, ECO:0000269|PubMed:14684700, ECO:0000269|PubMed:15140538, ECO:0000269|PubMed:15219508, ECO:0000269|PubMed:15372542, ECO:0000269|PubMed:16061563, ECO:0000269|PubMed:18606848, ECO:0000269|PubMed:19167105, ECO:0000269|PubMed:20160190, ECO:0000269|PubMed:21846512}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A disorder characterized by the loss of subcutaneous adipose tissue in the lower parts of the body (limbs, buttocks, trunk). It is accompanied by an accumulation of adipose tissue in the face and neck causing a double chin, fat neck, or cushingoid appearance. Adipose tissue may also accumulate in the axillae, back, labia majora, and intraabdominal region. Affected patients are insulin-resistant and may develop glucose intolerance and diabetes mellitus after age 20 years, hypertriglyceridemia, and low levels of high density lipoprotein cholesterol. {ECO:0000269|PubMed:10587585, ECO:0000269|PubMed:10655060, ECO:0000269|PubMed:10739751, ECO:0000269|PubMed:11792809, ECO:0000269|PubMed:12015247, ECO:0000269|PubMed:12196663, ECO:0000269|PubMed:12629077, ECO:0000269|PubMed:15372542, ECO:0000269|PubMed:17250669, ECO:0000269|PubMed:19220582, ECO:0000269|PubMed:24485160}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology
- Rare genetic disorder characterized by features reminiscent of marked premature aging. {ECO:0000269|PubMed:12714972, ECO:0000269|PubMed:12768443, ECO:0000269|PubMed:12927431, ECO:0000269|PubMed:15060110, ECO:0000269|PubMed:15286156, ECO:0000269|PubMed:15622532, ECO:0000269|PubMed:19933576, ECO:0000269|PubMed:21791255, ECO:0000269|PubMed:22355414, ECO:0000269|PubMed:23666920}. Note=The disease is caused by variants affecting the gene represented in this entry. HGPS is caused by the toxic accumulation of a truncated form of lamin-A/C. This mutant protein, called progerin (isoform 6), acts to deregulate mitosis and DNA damage signaling, leading to premature cell death and senescence. The mutant form is mainly generated by a silent or missense mutation at codon 608 of prelamin A that causes activation of a cryptic splice donor site, resulting in production of isoform 6 with a deletion of 50 amino acids near the C terminus. Progerin lacks the conserved ZMPSTE24/FACE1 cleavage site and therefore remains permanently farnesylated. Thus, although it can enter the nucleus and associate with the nuclear envelope, it cannot incorporate normally into the nuclear lamina (PubMed:12714972). {ECO:0000269|PubMed:12714972}.
- A disorder characterized by the association of genital anomalies, hypergonadotropic hypogonadism and dilated cardiomyopathy. Patients can present other variable clinical manifestations including intellectual disability, skeletal anomalies, scleroderma-like skin, graying and thinning of hair, osteoporosis. Dilated cardiomyopathy is characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. {ECO:0000269|PubMed:12927431, ECO:0000269|PubMed:17150192, ECO:0000269|PubMed:19283854}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of mandibuloacral dysplasia, a rare progeroid disorder with clinical and genetic heterogeneity, characterized by growth retardation, craniofacial dysmorphic features due to distal bone resorption, musculoskeletal and skin abnormalities associated with lipodystrophy. MADA is an autosomal recessive disease characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid appearance, partial alopecia, soft tissue calcinosis, joint contractures, and partial lipodystrophy with loss of subcutaneous fat from the extremities. Adipose tissue in the face, neck and trunk is normal or increased. {ECO:0000269|PubMed:12075506, ECO:0000269|PubMed:15998779, ECO:0000269|PubMed:16278265}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant form of restrictive dermopathy, a genodermatosis mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism, sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. {ECO:0000269|PubMed:15317753}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations. {ECO:0000269|PubMed:18611980}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures. {ECO:0000269|PubMed:18551513}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
12 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| intermediate filament | A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins. |
| lamin filament | Any of a group of intermediate-filament proteins that form the fibrous matrix on the inner surface of the nuclear envelope. They are classified as lamins A, B and C. |
| nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
| nuclear lamina | The fibrous, electron-dense layer lying on the nucleoplasmic side of the inner membrane of a cell nucleus, composed of lamin filaments. The polypeptides of the lamina are thought to be concerned in the dissolution of the nuclear envelope and its re-formation during mitosis. The lamina is composed of lamin A and lamin C filaments cross-linked into an orthogonal lattice, which is attached via lamin B to the inner nuclear membrane through interactions with a lamin B receptor, an IFAP, in the membrane. |
| nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| site of double-strand break | A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| structural constituent of cytoskeleton | The action of a molecule that contributes to the structural integrity of a cytoskeletal structure. |
| structural molecule activity | The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell. |
25 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to hypoxia | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| cellular senescence | A cell aging process stimulated in response to cellular stress, whereby normal cells lose the ability to divide through irreversible cell cycle arrest. |
| DNA double-strand break attachment to nuclear envelope | A process in which the DNA double-strand breaks are attached to the inner surface of the nuclear envelope proximal to the spindle pole body, or iMTOCs. |
| establishment or maintenance of microtubule cytoskeleton polarity | Any cellular process that results in the specification, formation or maintenance of polarized microtubule-based cytoskeletal structures. |
| heterochromatin assembly | An epigenetic gene silencing mechanism in which chromatin is compacted into heterochromatin, resulting in a chromatin conformation refractory to transcription. This process starts with heterochromatin nucleation, its spreading, and ends with heterochromatin boundary formation. |
| muscle organ development | The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work. |
| negative regulation of cardiac muscle hypertrophy in response to stress | Any process that stops, prevents or reduces the frequency, rate or extent of cardiac muscle hypertrophy in response to stress. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of extrinsic apoptotic signaling pathway | Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway. |
| negative regulation of mesenchymal cell proliferation | Any process that decreases the frequency, rate or extent of mesenchymal cell proliferation. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets. |
| negative regulation of release of cytochrome c from mitochondria | Any process that decreases the rate, frequency or extent of release of cytochrome c from mitochondria, the process in which cytochrome c is enabled to move from the mitochondrial intermembrane space into the cytosol, which is an early step in apoptosis and leads to caspase activation. |
| nuclear envelope organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nuclear envelope. |
| nuclear migration | The directed movement of the nucleus to a specific location within a cell. |
| nuclear pore localization | Any process in which nuclear pores are transported to, or maintained in, a specific location. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of histone H3-K9 trimethylation | Any process that activates or increases the frequency, rate or extent of histone H3-K9 trimethylation. |
| protein import into nucleus | The directed movement of a protein from the cytoplasm to the nucleus. |
| protein localization | Any process in which a protein is transported to, or maintained in, a specific location. |
| protein localization to nuclear envelope | A process in which a protein is transported to, or maintained at, a location within a nuclear envelope. |
| protein localization to nucleus | A process in which a protein transports or maintains the localization of another protein to the nucleus. |
| regulation of cell migration | Any process that modulates the frequency, rate or extent of cell migration. |
| regulation of protein localization to nucleus | Any process that modulates the frequency, rate or extent of protein localization to nucleus. |
| regulation of protein stability | Any process that affects the structure and integrity of a protein, altering the likelihood of its degradation or aggregation. |
| regulation of telomere maintenance | Any process that modulates the frequency, rate or extent of a process that affects and monitors the activity of telomeric proteins and the length of telomeric DNA. |
| ventricular cardiac muscle cell development | The process whose specific outcome is the progression of a ventricular cardiac muscle cell over time, from its formation to the mature state. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. The ventricle is the part of the heart that pumps blood out of the organ. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P17661 | DES | Desmin | Homo sapiens (Human) | PR |
| P08670 | VIM | Vimentin | Homo sapiens (Human) | PR |
| P31001 | Des | Desmin | Mus musculus (Mouse) | PR |
| P20152 | Vim | Vimentin | Mus musculus (Mouse) | PR |
| P21619 | Lmnb2 | Lamin-B2 | Mus musculus (Mouse) | PR |
| P14733 | Lmnb1 | Lamin-B1 | Mus musculus (Mouse) | PR |
| P48678 | Lmna | Prelamin-A/C | Mus musculus (Mouse) | PR |
| P70615 | Lmnb1 | Lamin-B1 | Rattus norvegicus (Rat) | PR |
| P48679 | Lmna | Prelamin-A/C | Rattus norvegicus (Rat) | PR |
| Q21065 | ifa-3 | Intermediate filament protein ifa-3 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| METPSQRRAT | RSGAQASSTP | LSPTRITRLQ | EKEDLQELND | RLAVYIDRVR | SLETENAGLR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LRITESEEVV | SREVSGIKAA | YEAELGDARK | TLDSVAKERA | RLQLELSKVR | EEFKELKARN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TKKEGDLIAA | QARLKDLEAL | LNSKEAALST | ALSEKRTLEG | ELHDLRGQVA | KLEAALGEAK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KQLQDEMLRR | VDAENRLQTM | KEELDFQKNI | YSEELRETKR | RHETRLVEID | NGKQREFESR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LADALQELRA | QHEDQVEQYK | KELEKTYSAK | LDNARQSAER | NSNLVGAAHE | ELQQSRIRID |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SLSAQLSQLQ | KQLAAKEAKL | RDLEDSLARE | RDTSRRLLAE | KEREMAEMRA | RMQQQLDEYQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ELLDIKLALD | MEIHAYRKLL | EGEEERLRLS | PSPTSQRSRG | RASSHSSQTQ | GGGSVTKKRK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LESTESRSSF | SQHARTSGRV | AVEEVDEEGK | FVRLRNKSNE | DQSMGNWQIK | RQNGDDPLLT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YRFPPKFTLK | AGQVVTIWAA | GAGATHSPPT | DLVWKAQNTW | GCGNSLRTAL | INSTGEEVAM |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RKLVRSVTVV | EDDEDEDGDD | LLHHHHGSHC | SSSGDPAEYN | LRSRTVLCGT | CGQPADKASA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SGSGAQVGGP | ISSGSSASSV | TVTRSYRSVG | GSGGGSFGDN | LVTRSYLLGN | SSPRTQSPQN |
| CSIM |