O95140
PR
Gene name |
MFN2 |
Protein name |
Mitofusin-2 |
Names |
Transmembrane GTPase MFN2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9927 |
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
4 structures for O95140
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6JFK | X-ray | 200 A | A | 73-419 | PDB |
| 6JFL | X-ray | 281 A | A/B/C/D | 73-419 | PDB |
| 6JFM | X-ray | 209 A | A/B | 381-419 | PDB |
| AF-O95140-F1 | Predicted | AlphaFoldDB |
782 variants for O95140
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1557515779 RCV000986240 CA338459151 |
7 | R>* | Charcot-Marie-Tooth disease type 2A2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1342700068 RCV000653895 CA338459162 |
8 | C>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1569802246 RCV000789381 |
11 | I>missing | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA18035498 rs777625403 RCV000794412 |
11 | I>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001204772 CA598724 rs763735861 |
11 | I>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000694545 rs367715413 CA598728 RCV002458249 |
12 | V>I | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs748233037 CA598731 RCV001219302 |
16 | K>Q | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000342413 RCV000556563 RCV000789062 RCV002354554 rs201715603 CA321399 RCV001705126 |
20 | H>Y | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Inborn genetic diseases Hereditary motor and sensory neuropathy with optic atrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA338459417 RCV000789400 rs1569802518 |
21 | M>V | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1178355950 RCV001302033 |
22 | A>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000557917 rs1553140991 CA338459590 |
31 | H>Y | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000023712 RCV000790039 rs1478175861 RCV001288126 |
38 | K>missing | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_076895 | 38 | K>del | CMT2A2B [UniProt] | Yes | UniProt |
|
rs1026123951 RCV001302489 |
40 | N>D | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001862171 rs1354203259 CA338459727 RCV000729317 |
40 | N>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000789372 rs1569802992 CA338459844 |
45 | Q>R | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000857088 rs1569803014 |
46 | L>missing | Charcot-Marie-Tooth disease, type I [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000391632 RCV000346922 rs886045219 CA10607971 |
51 | Q>H | Charcot-Marie-Tooth disease type 2 Hereditary motor and sensory neuropathy with optic atrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338460007 RCV000664230 rs1553141017 |
52 | E>K | Variant assessed as Somatic; impact. Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001174310 CA338460073 rs61733200 |
53 | S>R | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000653842 CA323379 RCV001257246 rs61733203 RCV002390523 |
54 | A>T | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002525222 rs776423551 RCV000711271 CA598749 RCV000534867 |
55 | T>S | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA338460247 RCV000796483 rs1311434220 |
59 | D>Y | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs138345244 CA598770 RCV000653930 RCV002411073 RCV000275642 RCV000236416 |
60 | T>M | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases Hereditary motor and sensory neuropathy with optic atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000472936 RCV000516499 rs761216583 CA598773 RCV001595008 |
63 | N>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1415276772 RCV000790046 CA338461581 |
65 | E>* | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000002361 CA252157 rs28940296 VAR_018607 |
69 | V>F | Charcot-Marie-Tooth disease type 2A2 CMT2A2A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA598775 RCV001096146 rs28940296 RCV002418579 RCV001096145 |
69 | V>I | Charcot-Marie-Tooth disease type 2 Variant assessed as Somatic; 4.619e-05 impact. Hereditary motor and sensory neuropathy with optic atrophy Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000703199 rs548809273 CA598777 |
71 | T>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000789412 rs1569815882 RCV001856235 RCV001091325 CA338461803 |
74 | Q>R | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000653847 RCV000200837 rs28940293 VAR_018608 CA252148 RCV000002358 |
76 | L>P | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 CMT2A2A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000658491 CA598778 RCV001855377 rs28940293 |
76 | L>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001871786 COSM1214979 rs764695837 CA598780 RCV001312062 |
78 | V>I | large_intestine Charcot-Marie-Tooth disease type 2 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1262941514 CA338461885 RCV001227603 RCV000517521 RCV002448558 |
79 | K>R | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs139827903 CA338461909 RCV001345572 |
80 | G>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000789374 rs139827903 CA598781 RCV001873221 |
80 | G>V | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002269347 RCV002429939 CA18038726 rs372451582 RCV001221318 |
83 | S>C | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
rs1569816088 RCV000790037 CA338461978 |
84 | K>E | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001210734 rs1638738352 |
85 | V>M | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA338462073 RCV000809868 rs1569816194 |
88 | I>F | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001566325 RCV000653837 CA338462084 rs1553141680 |
88 | I>M | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1638739035 RCV001288131 RCV001381190 |
88 | I>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569816194 RCV001174307 |
88 | I>V | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA338462133 rs1569816262 RCV000857090 |
91 | V>G | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338462123 rs1557519001 RCV001353161 RCV000705260 RCV000857089 |
91 | V>L | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001096147 rs1557519001 RCV001097890 RCV002480463 |
91 | V>M | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 Hereditary motor and sensory neuropathy with optic atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569816285 RCV000790024 RCV001064640 CA338462142 |
92 | L>P | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338462139 rs1569816285 RCV000790030 |
92 | L>R | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs119103263 RCV001206471 RCV001091326 CA338462161 RCV000789702 |
94 | R>G | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs28940291 CA338462164 RCV000789370 |
94 | R>P | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_018609 rs28940291 CA252142 RCV000002356 RCV000857091 RCV000286431 RCV000463055 |
94 | R>Q | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 CMT2A2A, CMT2A2B and HMSN6A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs119103263 RCV000190245 RCV000415132 VAR_029876 RCV003162206 RCV000002364 RCV001173686 RCV000199279 CA204307 RCV000200468 |
94 | R>W | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Microcephaly Hereditary motor and sensory neuropathy with optic atrophy Inborn genetic diseases HMSN6A; severely reduced homo-oligomerization; no effect on hetero-oligomerization with MFN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001243528 rs1638740322 |
95 | R>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501920 CA16609877 RCV000469424 RCV002473015 |
95 | R>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001349707 rs1638740596 |
95 | R>K | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553141686 CA338462189 RCV000543497 |
95 | R>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000986241 rs1569816382 CA338462200 |
96 | H>N | Charcot-Marie-Tooth disease type 2A2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338462222 CA598787 RCV001044142 rs779756767 |
96 | H>Q | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
RCV000518242 rs1553141706 RCV001360038 RCV000790050 CA338462271 |
98 | K>E | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000658492 CA338462338 RCV000707644 RCV000790051 rs1553141707 |
100 | A>G | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000857092 CA338462321 rs1569816496 |
100 | A>S | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs777012596 RCV000790048 |
103 | G>missing | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA320635 RCV000789063 rs863224068 RCV000532246 RCV000711275 |
104 | R>L | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863224068 RCV000789375 RCV001312063 CA338462489 |
104 | R>Q | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000515385 RCV000002371 RCV000002370 RCV000144872 RCV000197230 RCV000556047 CA115475 RCV001267430 rs119103268 |
104 | R>W | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Variant assessed as Somatic; impact. Charcot-Marie-Tooth disease type 2 Inborn genetic diseases Hereditary motor and sensory neuropathy with optic atrophy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA338433793 RCV000653940 rs1553142428 RCV000790041 |
105 | T>A | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863224069 CA279096 RCV000462918 RCV000201133 RCV001726042 RCV001090177 |
105 | T>M | Charcot-Marie-Tooth disease type 2A2 Cerebellar ataxia Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338433802 RCV000790011 rs863224069 |
105 | T>R | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs778937659 CA338433854 RCV000544862 |
106 | S>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1569829556 RCV000800957 CA338433861 |
107 | N>D | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1638897505 RCV001346408 |
107 | N>K | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA338433913 RCV000790317 rs1569829573 |
108 | G>R | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553142436 RCV000557390 CA338433959 |
109 | K>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1638898105 RCV001341292 |
111 | T>I | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA598809 RCV001862000 RCV000714526 rs757937208 RCV001836873 VAR_087590 |
112 | V>M | Charcot-Marie-Tooth disease type 2 Peripheral neuropathy Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; CMT2A2B; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD UniProt |
|
RCV000795743 rs1569829691 CA338434136 |
116 | M>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000790052 rs1569829761 CA338434348 |
123 | P>L | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001351500 rs1638900244 |
125 | G>E | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000789376 rs1334228742 CA338434418 |
126 | I>S | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA338434457 rs1569829855 RCV000790025 |
127 | G>D | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338434447 VAR_078437 RCV000789382 rs1569829855 |
127 | G>V | Charcot-Marie-Tooth disease CMT2A2A; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
rs770767909 CA338434527 RCV000798923 |
128 | H>Q | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000790013 rs1569829894 CA338434515 |
128 | H>R | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16609864 RCV000459621 rs1060501919 |
129 | T>I | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001378252 rs776404901 CA598814 RCV000408641 RCV000789387 |
131 | N>S | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000789415 CA338434628 RCV001856236 rs1569830013 |
132 | C>Y | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338434743 RCV000664229 rs1443036026 RCV000694043 |
135 | R>Q | Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000521500 RCV001062795 rs759844257 |
136 | V>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000857093 rs1569830238 CA338434980 |
144 | A>T | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863224969 RCV001386993 RCV000237022 CA279064 RCV000201006 |
146 | L>F | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000809598 CA598823 rs754016178 |
149 | E>K | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1060501918 CA16609865 RCV000474635 |
150 | G>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1638905291 RCV001229252 |
156 | S>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002307605 rs1557521949 CA338435198 RCV002334403 RCV000790014 RCV001300262 RCV000711276 |
156 | S>I | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338435226 RCV000857094 rs1569830408 |
158 | K>Q | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000789413 rs763007983 |
160 | V>missing | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs879253861 RCV001056342 |
160 | V>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000235092 CA10584072 rs879253861 |
160 | V>G | Charcot-Marie-Tooth disease type 2A2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000664056 RCV000790032 CA338436247 VAR_080339 rs1553142699 |
164 | A>V | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; CMT2A2B; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs119103262 RCV000789416 RCV001208639 CA252163 RCV000002363 |
165 | H>D | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863224970 CA338436259 RCV000789403 |
165 | H>L | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863224970 RCV001236164 |
165 | H>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA338436264 RCV000798323 rs1569834720 |
165 | H>Q | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000235729 CA279075 rs863224970 RCV000201063 RCV000653851 |
165 | H>R | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs119103262 RCV000789411 RCV000506106 CA338436254 RCV000802072 |
165 | H>Y | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338436265 RCV000789401 rs1569834732 |
166 | A>T | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1557522849 CA338436276 RCV000986242 RCV000697586 |
166 | A>V | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569834760 RCV000789377 CA338436287 |
167 | L>P | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1638957491 RCV001331978 |
172 | Q>R | Charcot-Marie-Tooth disease type 2A2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001007825 CA10584073 RCV000235058 rs879253862 |
176 | G>S | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs756851126 CA598850 RCV001064300 RCV001174295 |
180 | S>R | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001321536 rs863224064 CA323623 RCV000199084 |
181 | V>M | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001036576 rs1638959309 |
184 | P>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000544033 CA338436892 rs1553142726 |
190 | L>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001027468 CA10584096 rs879254288 RCV000236077 |
191 | L>P | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000796497 CA338437056 rs1569835123 |
198 | M>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1205882839 RCV001229234 |
199 | D>E | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001236929 rs1639041254 |
201 | P>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000790042 rs1569842143 CA338437692 |
202 | G>A | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338437715 rs1569842208 RCV000790020 |
203 | I>M | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200715905 RCV000516658 CA18009181 RCV001851446 |
203 | I>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA338437740 RCV000790034 rs1569842258 |
204 | D>E | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA598880 rs781651055 RCV001037845 |
204 | D>N | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1639042915 RCV001210287 |
205 | V>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA338437768 RCV000986243 rs1569842296 |
206 | T>A | Charcot-Marie-Tooth disease type 2A2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA115472 VAR_029877 RCV000002368 rs119103266 RCV000857095 RCV001268502 |
206 | T>I | Charcot-Marie-Tooth disease Hereditary motor and sensory neuropathy with optic atrophy HMSN6A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1162977959 CA338437817 RCV000689361 RCV000761641 RCV002289964 |
208 | E>D | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1639043428 RCV001307907 RCV002473261 |
209 | L>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1639043704 RCV001036451 |
210 | D>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001172686 rs1064794315 |
210 | D>H | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000986244 rs1557524703 CA338437954 |
213 | I>N | Charcot-Marie-Tooth disease type 2A2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000789396 RCV000697709 rs1557524703 CA338437956 |
213 | I>T | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_080340 CA338437961 rs1569842382 RCV000790033 |
214 | D>N | Charcot-Marie-Tooth disease CMT2A2B; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
VAR_076896 RCV000235670 CA129420 rs387906990 RCV000456775 RCV000023714 |
216 | F>S | Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; CMT2A2B [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1569842458 RCV000821854 CA338438080 |
217 | C>F | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs879253925 RCV001362177 CA10584097 RCV000236657 RCV000789064 RCV000761252 |
218 | L>P | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10581723 rs878854989 RCV000517758 RCV000232863 RCV000487727 |
219 | D>E | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569842483 CA338438147 RCV000796496 |
219 | D>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002221157 rs1639045345 RCV001051302 |
220 | A>T | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569842525 CA338438197 RCV000814016 RCV001174309 |
221 | D>H | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1440006845 CA338438282 RCV000789389 |
223 | F>L | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001331979 RCV001037085 rs1639045962 |
223 | F>L | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000457530 RCV000623705 rs1060501915 |
225 | L>missing | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002469290 RCV000790323 RCV002535815 rs1569842627 |
226 | V>missing | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000806897 rs1569842610 CA338438347 |
226 | V>M | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001070479 RCV001766721 RCV000817023 CA338438498 rs1569842685 |
230 | E>D | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
RCV001174314 rs1569842714 RCV001377596 |
231 | S>C | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569842714 RCV000790036 CA338438518 RCV001232114 RCV001726329 |
231 | S>F | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553143165 RCV000790049 CA338438524 |
232 | T>A | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338438533 RCV002290975 RCV001869229 rs1569842764 RCV000790043 |
232 | T>N | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338438520 RCV000653865 rs1553143165 |
232 | T>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569842803 VAR_067088 RCV000789397 CA338438544 |
233 | L>V | Charcot-Marie-Tooth disease CMT2A2A [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
rs1639047697 RCV001256669 |
234 | M>K | Charcot-Marie-Tooth disease type 2A2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000469837 rs879254210 CA16609866 |
235 | Q>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs879254210 RCV000791878 CA10584099 RCV000236494 |
235 | Q>E | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA277612 RCV000201150 rs773159585 RCV000857096 RCV001257085 RCV000414991 RCV000470638 |
236 | T>M | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1557525000 RCV000711277 CA338438835 RCV000810083 |
237 | E>D | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338438887 RCV000789363 rs1557525005 |
240 | F>I | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA349675 RCV000205521 RCV000502695 rs864622480 CA338438901 |
240 | F>L | Hereditary motor and sensory neuropathy with optic atrophy Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338438888 RCV001858529 RCV000857098 rs1557525005 |
240 | F>L | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000687000 rs1557525005 CA338438889 |
240 | F>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000857099 RCV000690762 RCV000195514 CA319860 rs863224065 |
242 | H>R | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501921 CA16609867 RCV000477447 |
244 | V>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501921 RCV001066912 |
244 | V>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10584070 RCV000235088 rs879253777 |
244 | V>L | Charcot-Marie-Tooth disease type 2A2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000235053 RCV000693266 rs879253777 CA10584074 |
244 | V>M | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000686011 rs369948853 CA598913 |
247 | R>C | 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 |
|
RCV000658108 rs762189054 RCV001247805 CA598914 |
247 | R>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001248236 CA338439079 RCV000789703 rs1569843694 |
248 | L>V | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000789360 RCV000184017 CA275457 RCV001245336 rs794729198 |
249 | S>F | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000464315 RCV000789405 RCV000767172 RCV002390522 CA325008 RCV001706178 rs140234726 |
250 | R>Q | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001091327 RCV000789065 CA598916 RCV000653915 rs373107074 |
250 | R>W | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA252154 VAR_018610 RCV000002360 rs28940295 RCV000789417 |
251 | P>A | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease CMT2A2A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001377874 rs1557525153 CA338439122 RCV000790328 |
251 | P>L | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338439120 rs1557525153 RCV000789692 RCV000700405 |
251 | P>R | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000464171 rs28940295 CA16609868 |
251 | P>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338439136 rs137960129 RCV000790021 |
252 | N>K | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001174303 rs1639057845 |
253 | I>F | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
CA598917 RCV001056047 rs376327713 |
255 | I>M | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002404816 rs1639058625 RCV001346315 |
258 | N>S | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000653884 CA270652 RCV000789066 RCV000143799 rs587777875 RCV000197364 RCV002408639 |
259 | R>C | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_073291 CA598918 rs755065651 RCV000700272 RCV002406618 RCV000789388 |
259 | R>H | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Inborn genetic diseases found in a patient with hereditary motor and sensory neuropathy; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000796767 rs755065651 RCV000789362 CA338439249 |
259 | R>L | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA338439351 rs1283917064 RCV000790026 |
263 | S>P | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1569844113 RCV002418605 RCV002557499 RCV001174311 |
266 | E>K | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569844113 CA338439397 RCV000857100 |
266 | E>Q | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001174312 CA338439448 rs1453267972 RCV001873637 |
268 | E>K | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA598921 RCV000236640 RCV000818378 rs771996573 RCV001027467 |
270 | M>T | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1639061149 RCV001305736 |
272 | E>K | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1458700065 CA338441382 RCV001308010 |
273 | V>E | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000689677 rs1458700065 RCV000519202 RCV000789395 CA338441387 |
273 | V>G | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001327215 rs1639165942 |
273 | V>M | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs768407445 RCV000789390 RCV002536915 CA598949 |
274 | R>Q | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA598950 rs560470663 RCV001035966 |
275 | R>Q | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002431472 rs368499636 RCV001050654 CA18009957 |
275 | R>W | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001253214 RCV002426481 VAR_029878 rs119103264 CA115466 RCV000002366 |
276 | Q>R | Charcot-Marie-Tooth disease type 2A2 Hereditary motor and sensory neuropathy with optic atrophy Inborn genetic diseases HMSN6A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000484543 rs1553143791 RCV000468456 |
276 | Q>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA338441429 RCV000790022 rs1569851570 |
276 | Q>H | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064794316 CA16616964 RCV000789406 RCV000482327 |
277 | H>R | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569851586 RCV000790015 CA338441435 |
277 | H>Y | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1639167341 RCV001053975 |
278 | M>I | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10584101 rs879253957 RCV000235764 RCV002307469 |
280 | R>C | Multiple system atrophy, cerebellar type [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000002359 CA252151 RCV000549934 RCV000789418 RCV002468552 RCV001836692 rs28940294 RCV000236600 VAR_018611 |
280 | R>H | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Neuropathy, hereditary motor and sensory, type 6A Charcot-Marie-Tooth disease type 2 Peripheral neuropathy CMT2A2A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs28940294 CA338441499 RCV000986245 |
280 | R>P | Charcot-Marie-Tooth disease type 2A2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs147136530 RCV001174298 RCV001331980 RCV001099689 RCV002444798 CA323589 RCV001087915 RCV000767173 RCV000199052 |
281 | C>S | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; Hereditary motor and sensory neuropathy with optic atrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1569851731 CA338441572 RCV000789391 |
284 | F>Y | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569851796 CA338441640 RCV000789369 |
288 | E>D | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001062964 RCV002290578 rs866604005 CA18010000 |
294 | R>* | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA303079 RCV000180646 RCV002444723 CA18010015 RCV000658493 RCV000986246 RCV000205710 RCV000321170 rs41278630 RCV002492791 RCV001172690 |
298 | G>R | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Hereditary motor and sensory neuropathy with optic atrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000195483 RCV001101673 RCV001101674 CA319825 rs863224066 |
300 | R>C | Charcot-Marie-Tooth disease type 2 Hereditary motor and sensory neuropathy with optic atrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001172684 rs1639171448 |
305 | S>A | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000653918 rs1553143847 CA338441851 |
306 | A>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001876288 rs1639171700 RCV001201342 |
307 | K>E | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000790040 RCV003222129 RCV001380591 rs1553143852 CA338441878 |
308 | E>* | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553143852 CA338441876 RCV000653935 |
308 | E>K | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338441968 RCV002557498 RCV001174301 rs1424551887 |
316 | K>E | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001045684 rs1639173341 |
317 | A>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000993921 CA338442038 rs1569852256 RCV001858778 |
322 | E>K | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA598981 RCV000653835 rs778350613 |
326 | A>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs771900151 RCV001751613 RCV001318988 CA18010145 |
328 | A>T | Variant assessed as Somatic; impact. Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000789371 rs1569853108 |
329 | E>missing | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000705983 CA338442292 RCV002388345 rs1557527886 |
335 | M>V | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000685072 CA338442435 rs1557527906 |
342 | E>Q | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569853875 VAR_078438 RCV000789383 CA338442572 |
347 | E>V | Charcot-Marie-Tooth disease CMT2A2A; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV001247383 rs1639195979 |
348 | C>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000790023 rs1569853900 CA338442642 |
350 | S>P | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000413177 RCV001850990 CA16042292 rs1057518235 |
354 | V>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001230887 rs1057518235 |
354 | V>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569853941 RCV000797918 |
355 | K>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000817131 CA18010298 rs143747551 |
355 | K>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA338442737 RCV000789414 rs1569853967 |
356 | T>A | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338442746 RCV000817662 rs1569853976 |
356 | T>N | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs119103261 CA252160 VAR_022464 RCV000002362 RCV000547064 |
357 | K>N | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 CMT2A2A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000486402 RCV000857101 RCV001856863 rs1064795818 CA16616965 |
360 | Q>E | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338442851 rs1064793170 RCV000653938 |
361 | H>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001071615 rs1639197832 |
361 | H>Q | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569854012 RCV001204495 CA338442849 RCV000789419 VAR_029879 |
361 | H>Y | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 HMSN6A [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV001198485 rs387906991 VAR_076897 RCV000023716 RCV000857102 RCV002472935 CA129423 RCV000240513 RCV002415428 RCV001388766 |
362 | T>M | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; Inborn genetic diseases Hereditary motor and sensory neuropathy with optic atrophy CMT2A2B; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000235743 RCV002518453 CA10584102 rs879254176 |
362 | T>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs387906991 RCV000458626 COSM1293155 RCV001174304 RCV000991837 CA16609879 |
362 | T>R | cervix Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs879254011 CA338442906 RCV001363203 RCV000986247 |
364 | R>L | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000693474 rs879254011 RCV000790019 RCV001809756 CA338442904 |
364 | R>P | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000235416 CA10584103 RCV002429150 RCV000789067 RCV000463885 rs879254011 |
364 | R>Q | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000857104 CA115469 RCV000198024 rs119103265 RCV000002367 RCV000023711 VAR_029880 RCV000857103 RCV000195560 |
364 | R>W | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Hereditary motor and sensory neuropathy with optic atrophy HMSN6A and CMT2A2A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000559610 CA599009 rs373211062 RCV001809462 RCV002431467 RCV000508148 |
367 | Q>H | Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001298699 rs377402479 RCV000199208 CA323742 |
370 | E>Q | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001228104 CA599011 rs201675158 |
371 | A>V | Charcot-Marie-Tooth disease type 2 Variant assessed as Somatic; 4.619e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001527614 RCV001236367 rs1639200820 |
373 | R>* | Global developmental delay Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000535795 RCV001172685 CA599013 rs142042485 RCV002438491 |
373 | R>Q | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000518540 VAR_078439 CA338443186 rs1553144059 RCV000789384 |
376 | M>I | Charcot-Marie-Tooth disease CMT2A2A; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA338443169 RCV000790031 rs863224967 CA338443159 |
376 | M>L | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000789378 rs1569854342 CA338443181 RCV001869222 |
376 | M>R | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569854342 RCV001049066 CA338443173 RCV000790027 RCV001091328 |
376 | M>T | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863224967 RCV002051828 RCV000793093 RCV002444815 RCV001542541 RCV001552650 CA279087 |
376 | M>V | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 Hereditary motor and sensory neuropathy with optic atrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1569854381 CA338443222 RCV000790009 RCV001288127 |
378 | S>P | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000789623 rs1569854405 |
379 | L>missing | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1433849760 RCV000857105 CA338443256 |
380 | H>Y | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs762210837 RCV001229502 |
381 | M>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA18010376 RCV001322593 rs762210837 |
381 | M>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000653868 RCV000789364 rs1553144066 CA338443308 |
382 | A>P | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA599015 rs201165591 RCV001037498 |
382 | A>V | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000515554 RCV001288128 rs1553144065 |
383 | A>missing | Charcot-Marie-Tooth disease type 2A2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs794727035 CA239603 RCV000595105 RCV002517672 |
383 | A>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM3356428 RCV001857317 RCV000512642 rs565042936 CA599019 |
384 | R>Q | Charcot-Marie-Tooth disease type 2 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000789365 RCV000235909 RCV001854859 rs777353788 CA599018 RCV002518436 |
384 | R>W | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000703384 CA18011028 RCV000516969 rs924011766 RCV001843525 |
388 | V>I | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000789385 CA338444707 rs1569859660 |
390 | C>F | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001345869 CA338444699 RCV000790316 VAR_080341 rs1569859647 |
390 | C>R | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 CMT2A2B; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
rs12069578 RCV000174373 RCV000711269 RCV001173689 RCV002336421 RCV001084819 CA599042 CA302734 |
393 | M>I | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001213000 CA599043 RCV001312064 rs186448929 |
394 | R>C | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA599044 RCV001508845 RCV001174313 RCV000688374 rs538243357 |
394 | R>H | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1320081 CA599046 rs778219078 RCV000497395 RCV001851372 |
397 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 2 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs758948968 COSM894763 CA599045 RCV000691296 |
397 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium Charcot-Marie-Tooth disease type 2 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs879253939 RCV000235812 CA10584104 RCV000789407 RCV002518431 |
400 | R>* | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338444926 rs138072432 RCV001809803 RCV000789366 |
400 | R>P | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001857911 CA338444958 rs1161492440 RCV000518020 |
401 | L>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000653905 CA338445077 rs1279266159 |
407 | Q>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001237497 rs1639295881 |
407 | Q>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA338445207 RCV000820207 rs1569860081 |
414 | D>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001063504 rs1278360900 CA338445238 |
415 | Y>C | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001055842 rs1639297626 |
416 | K>M | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001219307 RCV000995579 RCV000413487 CA16042289 rs1057517987 RCV000789392 COSM894767 |
418 | R>* | Charcot-Marie-Tooth disease Variant assessed as Somatic; impact. endometrium Charcot-Marie-Tooth disease type 2 Hereditary motor and sensory neuropathy with optic atrophy [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs749893944 RCV001318779 CA599058 |
419 | I>M | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA599060 rs765921889 RCV000792533 |
423 | T>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000206088 rs8192303 CA350156 |
423 | T>M | Variant assessed as Somatic; impact. Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000789393 rs1557530247 CA338445474 RCV000692496 |
424 | E>G | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000792753 rs764374251 CA338445767 |
431 | S>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA599083 RCV002508948 rs764374251 RCV000993922 RCV001218318 |
431 | S>L | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000653886 RCV000857107 rs766213721 |
437 | E>missing | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756110507 CA599090 RCV003114643 RCV002383994 RCV000516447 |
440 | R>C | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000691403 CA338446085 rs1557530701 |
441 | L>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002379882 CA599091 rs780450613 RCV001230600 |
443 | V>I | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000812881 CA338446144 rs1569861490 |
444 | L>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1639318979 RCV001242409 |
444 | L>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs368032696 RCV000236681 RCV002379052 CA10584105 RCV001242047 |
447 | D>N | Variant assessed as Somatic; impact. Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP |
|
rs138382758 RCV001172693 CA252169 RCV000196650 RCV002390086 RCV001814957 RCV000312138 RCV000002372 RCV000487518 VAR_078440 RCV001086652 |
468 | R>H | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Inborn genetic diseases Hereditary motor and sensory neuropathy with optic atrophy CMT2A2A; also found in patients with an unclassified form of Charcot-Marie-Tooth disease; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000711270 rs776174992 CA599117 RCV003165942 |
470 | I>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1266361856 RCV000626228 CA338446686 |
476 | R>G | Charcot-Marie-Tooth disease type 2A2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1639333679 RCV002537740 RCV001270777 |
479 | S>C | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA599121 rs762264240 RCV001316570 |
481 | R>C | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA599122 RCV001857799 RCV000236659 rs767718891 |
481 | R>H | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001065419 rs1639334188 |
483 | S>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA599123 rs375480365 RCV002393347 RCV001072049 |
484 | T>M | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001352435 RCV000790012 rs1320374657 CA338446806 |
485 | A>T | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs142110794 RCV000689075 CA599125 |
487 | T>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000797774 CA599126 RCV002388455 rs147785658 |
488 | N>S | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000820789 rs141775063 CA599130 |
494 | Q>K | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002286814 rs746806455 RCV001174305 CA599131 |
496 | D>E | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA338446983 rs1569862824 RCV000790044 |
496 | D>G | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1639378150 RCV001049878 |
500 | G>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000653913 CA338447853 rs1553145023 |
504 | L>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001220973 rs751397699 RCV002393531 CA599148 |
508 | S>T | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA18012193 CA18012209 RCV001337373 rs945014959 RCV001814307 |
509 | V>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000862611 CA599151 RCV002399864 RCV001172997 rs376598131 RCV001726347 |
510 | R>Q | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA599150 RCV001756173 RCV002388225 COSM139268 rs146092040 RCV000690049 |
510 | R>W | skin Variant assessed as Somatic; 4.62e-05 impact. Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000657919 RCV000789379 rs755657087 RCV000506384 CA599152 RCV000810445 |
513 | I>V | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002529779 RCV000626139 CA338447938 rs369140232 |
519 | R>C | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001063287 rs373809750 CA599156 RCV000857108 |
519 | R>H | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs373809750 CA338447939 RCV000790038 |
519 | R>P | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs866494871 CA18012259 RCV001342527 |
524 | L>F | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000199695 RCV000692017 rs145654854 CA324235 RCV002399737 RCV001174302 |
525 | N>S | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1569865516 RCV000812502 |
538 | Q>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002559281 rs1639383535 RCV001200327 |
541 | I>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1639384043 RCV001097993 RCV001097992 |
544 | H>R | Charcot-Marie-Tooth disease type 2 Hereditary motor and sensory neuropathy with optic atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002274938 CA321946 RCV002399738 RCV001366046 CA599166 rs373368672 |
548 | G>R | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1553145126 CA338448163 RCV000547469 |
551 | M>I | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002552612 RCV001046898 CA338448211 rs1369308807 RCV001092578 |
559 | P>S | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001092579 RCV001862717 rs747733583 CA599170 |
563 | R>C | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA599174 RCV001208822 rs770243526 |
565 | A>D | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001323021 rs1639388309 |
565 | A>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA338448253 RCV000701974 rs1557532315 |
566 | L>F | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000790315 VAR_078441 RCV001365283 rs376925978 CA599177 |
570 | N>S | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 found in a patient with hereditary motor neuropathy; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs786204244 RCV000168427 CA334755 |
575 | R>C | Variant assessed as Somatic; impact. Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA599212 RCV000622514 RCV000857109 rs564375950 RCV001860439 |
575 | R>H | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs749606728 RCV000701448 CA599215 RCV000236569 |
577 | I>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001209175 rs773308500 CA599220 |
584 | P>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000857110 RCV002399858 RCV001858530 RCV001174299 CA599221 rs771675874 RCV002473156 |
587 | P>S | Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002397359 rs771675874 CA338448524 RCV000685053 |
587 | P>T | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1639428648 RCV001246052 |
588 | P>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000790028 rs1569868729 |
591 | Q>missing | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1639429397 RCV001196082 RCV001362247 |
593 | S>T | Charcot-Marie-Tooth disease type 2 Hereditary motor and sensory neuropathy with optic atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000553393 CA338448948 rs1553145384 |
604 | V>I | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000702121 rs149122641 CA599229 |
606 | G>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA16609883 rs1060501924 RCV000469705 |
608 | A>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338449239 rs755299545 RCV000789380 |
612 | S>Y | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000578294 rs1553145402 |
614 | T>missing | Hereditary motor and sensory neuropathy with optic atrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001338789 rs753132224 |
616 | M>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001197240 RCV000653849 rs200936779 CA599235 |
620 | V>I | Charcot-Marie-Tooth disease type 2 Hereditary motor and sensory neuropathy with optic atrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001297030 rs1639433425 |
621 | V>I | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA338450157 rs1163976600 RCV001056000 |
627 | K>E | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA599268 rs772701127 RCV000236397 RCV001857805 |
632 | R>W | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1569870801 RCV001362178 RCV002406718 RCV000790005 CA338450558 |
637 | S>F | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA599272 rs763185826 RCV000809843 |
637 | S>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1569870930 RCV000790035 CA338450685 |
641 | Y>H | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000802362 COSM180958 CA599280 rs754683866 |
646 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine Charcot-Marie-Tooth disease type 2 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs754683866 RCV001045923 |
646 | V>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA599282 RCV001196640 RCV000233537 rs763492075 |
649 | R>H | Charcot-Marie-Tooth disease type 2 Hereditary motor and sensory neuropathy with optic atrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs763492075 CA10584075 RCV000235085 |
649 | R>P | Charcot-Marie-Tooth disease type 2A2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs772756022 RCV002517229 CA320859 RCV000196445 |
651 | T>A | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001030783 rs1639459062 |
655 | K>E | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002415847 RCV000200689 rs863224063 CA325269 RCV000524992 |
659 | R>K | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000467859 rs377090439 CA16609872 |
660 | A>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
RCV001303510 CA338451294 rs1204925465 |
661 | F>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1569871448 RCV000790006 RCV001759484 CA338451319 |
662 | K>E | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001335680 rs369762154 CA322248 RCV002415848 RCV001101761 RCV000197786 RCV001087905 |
663 | R>C | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 Hereditary motor and sensory neuropathy with optic atrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs766735605 RCV002418567 CA599294 RCV001071736 |
663 | R>H | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs766735605 RCV001305493 RCV000518332 CA599293 RCV001173688 |
663 | R>L | Variant assessed as Somatic; 0.0 impact. Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA338451397 rs1569871530 RCV000789068 |
665 | F>S | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001092580 RCV001856242 rs1569871653 CA338451573 RCV000790045 |
673 | L>P | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000792947 rs770361817 CA599301 |
674 | Q>K | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001344760 CA338451599 rs1410698026 |
674 | Q>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1569871830 CA338451655 RCV000789075 RCV001215422 |
679 | Y>* | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000857111 rs1569871862 CA338451690 |
683 | N>H | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001349644 CA599306 rs762213417 |
683 | N>S | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10584106 rs879253910 RCV000236638 RCV001367163 |
687 | Q>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1218249174 RCV001045192 |
690 | Q>E | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000795970 rs1569882539 |
698 | H>missing | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16609874 rs1060501916 RCV000465940 |
698 | H>L | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA338453003 rs1060501916 RCV001174297 |
698 | H>R | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001101762 rs142271930 RCV002492476 RCV000711273 CA292078 RCV000227305 RCV001173010 RCV000126754 VAR_078442 |
705 | V>I | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Hereditary motor and sensory neuropathy with optic atrophy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1569882675 CA338453086 RCV000790029 |
706 | T>P | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000778183 VAR_078443 RCV001775061 CA252166 RCV000239892 RCV002285136 RCV000624830 RCV000472857 RCV000002369 RCV001173687 rs119103267 RCV000199654 RCV002476912 RCV002247240 RCV002508915 |
707 | R>W | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Neuropathy, hereditary motor and sensory, type 6A Charcot-Marie-Tooth disease type 2 MFN2-Related Disorders Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; Hereditary motor and sensory neuropathy with optic atrophy Inborn genetic diseases CMT2A2A and CMT2A2B; decreased function in mitochondrial fusion; reduced homo-oligomerization; no effect on hetero-oligomerization with MFN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1639600409 RCV001174315 |
707 | R>missing | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001247103 rs375937289 CA338453099 RCV000790047 |
707 | R>P | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000789408 rs1557537223 RCV002468601 CA338453131 RCV000697850 COSM894775 |
710 | L>P | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Variant assessed as Somatic; impact. endometrium Charcot-Marie-Tooth disease type 2 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001557264 rs779574187 CA599340 RCV000789367 |
714 | I>V | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000688561 rs144860227 CA323127 RCV000198602 |
716 | A>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000554698 rs144860227 CA321153 VAR_078444 RCV000790008 RCV000334497 RCV000731890 RCV002426935 |
716 | A>T | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Hereditary motor and sensory neuropathy with optic atrophy Inborn genetic diseases found in a patient with intermediate Charcot-Marie-Tooth disease; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001204607 rs1639602553 |
717 | M>I | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA338453247 rs1450205264 RCV000653956 |
720 | K>E | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002424610 rs150946795 RCV000689817 CA599349 |
721 | I>T | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA338453293 rs1557537346 RCV000695484 RCV000789361 |
724 | L>P | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1557537346 RCV001174296 |
724 | L>R | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1317009723 RCV001202315 |
726 | S>* | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761544980 RCV000653949 CA599353 |
728 | Q>K | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000820765 CA338453391 rs1569883217 |
730 | K>N | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338453441 rs900143738 RCV000789069 |
734 | L>V | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553146551 RCV000653890 CA338453821 |
738 | A>T | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001856234 RCV001726327 RCV000789368 CA338453832 rs1569889919 |
738 | A>V | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338453880 CA16609875 rs1060501925 RCV000458069 RCV000790016 |
740 | W>C | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000789402 RCV000693444 CA338453866 rs1557539004 CA338453869 |
740 | W>R | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000197403 RCV000763240 RCV000857112 VAR_018612 RCV000235811 CA252145 RCV001001747 RCV002444413 RCV002426480 rs28940292 RCV000002357 |
740 | W>S | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease MFN2-Related Disorders Charcot-Marie-Tooth disease type 2 Inborn genetic diseases CMT2A2A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA16609871 rs1060501917 RCV000461042 RCV003133271 |
741 | L>V | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA338453887 RCV001027507 rs1553146559 RCV000530896 |
741 | L>W | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002430011 RCV001773537 rs1639696930 RCV001236767 |
743 | S>N | Charcot-Marie-Tooth disease type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000790007 rs1569890121 CA338453941 |
743 | S>R | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001211210 rs756693072 RCV001295689 |
744 | E>D | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001856973 rs1131691782 RCV000492878 CA338454350 |
744 | E>G | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16616967 RCV001027466 RCV000698484 RCV000486011 rs1064794571 |
744 | E>K | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_067089 rs1569890153 CA915941142 RCV000789399 |
744 | E>M | Charcot-Marie-Tooth disease CMT2A2A; requires 2 nucleotide substitutions [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV000790017 rs1553146569 CA338454373 |
745 | L>P | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000653939 rs1553146569 CA338454376 |
745 | L>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001300263 CA10584108 RCV000236805 rs879254059 |
747 | M>R | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338454406 RCV000790018 rs879254059 |
747 | M>T | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338454503 rs1569890311 RCV000789386 |
750 | H>P | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000789409 RCV001712732 rs1557539119 CA338454512 RCV000693486 |
751 | Q>* | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001092581 CA10581724 RCV000231193 RCV000201055 rs863224968 CA279072 |
752 | Y>* | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1639699426 RCV001036863 |
753 | L>P | Charcot-Marie-Tooth disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000789613 RCV003147548 RCV000986248 rs773371488 RCV001232650 RCV001700461 |
754 | Q>missing | Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1557515730 RCV000711272 |
1 | M>V | No |
ClinVar dbSNP |
|
|
CA598720 rs758996830 |
2 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA598721 rs764758724 |
4 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA338459121 rs1222894986 |
5 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA338459118 rs1222894986 |
5 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1557515779 CA338459148 |
7 | R>G | No |
ClinGen Ensembl |
|
|
COSM894744 rs1296772735 CA338459153 |
7 | R>L | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA598722 rs752363939 |
8 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338459168 rs1366027878 |
8 | C>Y | No |
ClinGen TOPMed |
|
|
CA598723 rs757982521 |
10 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA598726 rs756450319 |
11 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA598725 rs777625403 RCV000658490 |
11 | I>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs367715413 CA338459271 |
12 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1569802385 CA338459292 |
13 | T>A | No |
ClinGen Ensembl |
|
|
CA598730 rs778984789 |
15 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA598732 rs772477199 |
17 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 22 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338459435 rs1178355950 |
22 | A>T | No |
ClinGen gnomAD |
|
|
CA598735 rs776459291 |
25 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA338459490 rs1191273018 |
25 | N>T | No |
ClinGen TOPMed |
|
|
CA338459500 rs1362917966 |
26 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA598738 rs775052063 |
27 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1303507580 CA338459570 |
30 | K>R | No |
ClinGen gnomAD |
|
|
CA338459652 rs1378983806 |
34 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 36 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338459704 rs1157741525 |
38 | K>M | No |
ClinGen TOPMed |
|
|
rs1288073943 CA338459721 |
39 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1026123951 CA18035650 |
40 | N>H | No |
ClinGen TOPMed |
|
|
CA338459892 rs1263406133 |
47 | G>A | No |
ClinGen gnomAD |
|
|
CA598743 rs766706650 |
48 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs754303535 CA598744 |
49 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1569803209 CA338460038 |
53 | S>G | No |
ClinGen Ensembl |
|
|
CA598746 rs748283840 |
53 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA598747 rs747176196 |
54 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA338460250 rs1311434220 |
59 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA598772 rs773916548 |
62 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA18038628 rs922058129 |
64 | A>T | No |
ClinGen gnomAD |
|
|
rs1297357606 CA338461620 |
65 | E>D | No |
ClinGen gnomAD |
|
|
CA338461606 rs1415276772 |
65 | E>Q | No |
ClinGen gnomAD |
|
|
CA18038685 rs878985218 |
70 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 72 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 73 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218698482 CA338461834 |
76 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764695837 CA338461860 |
78 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279715181 CA338461900 |
80 | G>S | No |
ClinGen gnomAD |
|
|
CA338462020 RCV000520186 rs1553141664 |
85 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1435275513 CA338462060 |
87 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs750571681 CA598784 |
87 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs755927144 CA598785 |
90 | E>Q | No |
ClinGen ExAC |
|
|
CA338462242 rs1320589060 |
97 | M>K | No |
ClinGen gnomAD |
|
|
rs754966288 CA598788 |
97 | M>V | No |
ClinGen ExAC gnomAD |
|
| rs777012596 | 102 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs972448302 CA18038779 |
103 | G>S | No |
ClinGen TOPMed |
|
| rs777012596 | 103 | G>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207767404 CA338434030 |
113 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 115 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA598810 rs777076965 |
118 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1235785061 CA338434237 |
119 | D>V | No |
ClinGen gnomAD |
|
|
CA338434308 rs1420813419 |
121 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 124 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000991839 CA338434391 rs1569829787 |
125 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1334228742 CA338434413 |
126 | I>N | No |
ClinGen TOPMed |
|
|
rs1344156837 CA338434575 |
130 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 134 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338434776 rs1398128055 |
137 | E>G | No |
ClinGen gnomAD |
|
|
rs1349977366 CA338434825 |
139 | T>A | No |
ClinGen TOPMed |
|
|
CA598818 rs762169547 |
139 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338434838 rs762169547 |
139 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA598819 rs767640801 |
140 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA598820 rs773222120 |
143 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs760721051 CA598821 |
145 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA338435160 rs1255624199 |
154 | K>N | No |
ClinGen gnomAD |
|
|
CA598825 rs764880166 |
157 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA338436185 rs1301112706 |
160 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA338436220 CA338436223 rs975073098 |
162 | Q>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 164 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1719491 CA18008583 rs868800944 |
174 | H>Y | NS [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA598848 rs370569875 |
175 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 178 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338436627 rs1338701016 |
182 | M>V | No |
ClinGen gnomAD |
|
|
rs374340426 CA598852 |
183 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755790687 CA598853 |
185 | N>K | No |
ClinGen ExAC gnomAD |
|
| rs1205882839 | 199 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757817139 CA598879 |
203 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1064794315 CA16616963 RCV000478137 |
210 | D>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs769882113 CA598882 |
215 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA10584098 RCV000236128 rs879254010 |
220 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA338438412 rs1569842663 RCV000991840 |
228 | N>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA338438512 rs1557524814 RCV000761642 |
231 | S>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs879253924 CA338438909 |
241 | F>L | No |
ClinGen gnomAD |
|
|
CA10584100 RCV000236126 rs879253924 |
241 | F>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA338439152 rs1267396322 |
253 | I>T | No |
ClinGen gnomAD |
|
|
CA338439175 rs1362725350 |
255 | I>L | No |
ClinGen gnomAD |
|
|
CA338439323 rs1201623969 |
262 | A>S | No |
ClinGen TOPMed |
|
|
rs949501949 CA18009262 |
262 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1283917064 CA338439353 |
263 | S>A | No |
ClinGen gnomAD |
|
|
rs1444952735 CA338439366 |
264 | A>T | No |
ClinGen gnomAD |
|
|
RCV000993920 CA338439378 rs1569844072 |
264 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA338439444 rs1453267972 |
268 | E>Q | No |
ClinGen gnomAD |
|
|
CA598920 CA338439486 rs748318825 |
270 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18009268 rs748318825 |
270 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762440627 CA598948 |
274 | R>W | Variant assessed as Somatic; 4.67e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA598951 rs529224795 |
278 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338441493 rs879253957 |
280 | R>G | No |
ClinGen gnomAD |
|
|
rs1475014336 CA338441531 |
282 | T>A | No |
ClinGen gnomAD |
|
|
CA338441552 rs1404069554 |
283 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA598953 rs765825496 |
286 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338441602 rs765825496 |
286 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458465883 CA338441594 |
286 | V>L | No |
ClinGen gnomAD |
|
|
CA338441692 rs1569851845 |
292 | V>G | No |
ClinGen Ensembl |
|
|
rs369764108 CA18009992 |
293 | D>G | No |
ClinGen ESP TOPMed |
|
|
CA598956 rs371982971 |
294 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA338441733 rs1355201865 |
295 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs751685400 CA598957 |
296 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 298 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 299 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338441793 rs1226075443 |
300 | R>H | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA598959 rs745662852 |
301 | I>T | No |
ClinGen ExAC |
|
| TCGA novel | 303 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1196253095 CA338441897 |
309 | V>A | No |
ClinGen gnomAD |
|
|
CA338441892 rs1341422306 |
309 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA338441889 rs1341422306 |
309 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1044699189 CA18010029 |
310 | L>V | No |
ClinGen Ensembl |
|
|
CA338441921 rs150857365 |
311 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA598962 rs748838916 |
311 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs774062558 CA598964 |
312 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA338441999 rs909012916 |
318 | Q>H | No |
ClinGen TOPMed |
|
|
rs1371360768 CA338442036 |
321 | P>L | No |
ClinGen gnomAD |
|
|
rs1386579410 CA338442131 |
325 | G>V | No |
ClinGen gnomAD |
|
|
rs1324564667 CA338442137 |
326 | A>T | No |
ClinGen gnomAD |
|
|
rs771900151 CA598983 |
328 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18010147 rs892212906 |
331 | F>S | No |
ClinGen Ensembl |
|
|
rs1056174371 CA18010146 |
331 | F>V | No |
ClinGen Ensembl |
|
|
rs540430409 CA338442261 |
333 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA598984 rs540430409 |
333 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1009733171 CA18010149 |
333 | V>M | No |
ClinGen Ensembl |
|
|
CA338442299 rs1259172565 |
335 | M>T | No |
ClinGen gnomAD |
|
|
rs1486939209 CA338442334 |
337 | E>V | No |
ClinGen gnomAD |
|
| rs770137057 | 344 | R>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1131691642 CA338442457 RCV000493044 |
344 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA18010171 rs927418350 |
345 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 359 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1064793170 CA16616966 RCV000485629 |
361 | H>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs769096722 CA599007 |
363 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA599008 rs774895136 |
363 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 363 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868500000 CA18010359 |
365 | A>V | No |
ClinGen gnomAD |
|
|
CA338442994 rs1483584973 |
368 | I>M | No |
ClinGen gnomAD |
|
|
CA599010 rs773424124 |
370 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 372 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569854283 CA338443084 |
372 | V>G | No |
ClinGen Ensembl |
|
|
CA338443126 rs1423799732 |
374 | L>R | No |
ClinGen Ensembl |
|
|
rs1371006382 CA338443226 |
378 | S>Y | No |
ClinGen gnomAD |
|
|
CA16621558 rs1064797107 RCV000488156 |
379 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000199394 CA323927 rs863224070 |
389 | Y>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs756800190 CA599040 |
391 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA599041 rs767111551 RCV000236730 |
392 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA18011036 rs186448929 |
394 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA599048 rs555006809 |
398 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs138072432 CA599049 |
400 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338444961 rs1389440695 |
402 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA599051 rs769905428 |
403 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA18011067 rs890382052 |
404 | I>T | No |
ClinGen Ensembl |
|
|
rs775483521 CA599052 |
404 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333249068 CA338445007 |
405 | D>N | No |
ClinGen gnomAD |
|
|
CA338445050 rs1437640665 |
406 | K>N | No |
ClinGen gnomAD |
|
|
rs764170470 CA599054 |
409 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370736142 CA18011069 |
409 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370736142 CA599053 |
409 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1254519410 CA338445123 |
410 | L>I | No |
ClinGen TOPMed |
|
|
CA599055 rs375335641 |
413 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163530430 CA338445232 |
415 | Y>H | No |
ClinGen TOPMed |
|
|
CA599057 COSM894769 rs766998571 |
418 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA599059 rs755850497 |
421 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1415049174 CA338445400 |
422 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 429 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338445842 rs1460427784 |
434 | M>V | No |
ClinGen gnomAD |
|
|
rs1030984908 CA18011317 |
435 | A>G | No |
ClinGen gnomAD |
|
|
COSM1719492 CA18011325 rs1011639786 |
436 | E>K | Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA599089 rs565645338 |
439 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA338446043 rs1226682845 |
439 | R>S | No |
ClinGen gnomAD |
|
|
rs958009351 CA18011348 |
440 | R>H | No |
ClinGen gnomAD |
|
|
rs1415810343 CA338446100 |
442 | S>P | No |
ClinGen gnomAD |
|
|
CA338446121 rs780450613 |
443 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338446175 rs376300393 |
446 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338446186 rs1389603608 |
447 | D>G | No |
ClinGen TOPMed |
|
|
CA599095 rs747870255 |
450 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs140027579 CA18011374 |
453 | H>Y | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA18011378 rs921986690 |
454 | P>A | No |
ClinGen Ensembl |
|
|
CA599097 rs78658090 |
456 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA599096 rs772083521 |
456 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1639321356 RCV001813076 |
459 | L>F | No |
ClinVar dbSNP |
|
|
rs1464268222 CA338446433 |
461 | V>F | No |
ClinGen gnomAD |
|
|
rs1304219113 CA521184243 |
462 | Y>* | No |
ClinGen gnomAD |
|
|
CA599114 rs372129644 |
465 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA338446557 rs1569862324 |
467 | H>P | No |
ClinGen Ensembl |
|
|
rs746852710 COSM1214977 CA599116 |
468 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
RCV001009070 rs1569862384 |
470 | I>missing | No |
ClinVar dbSNP |
|
|
rs1405631056 CA338446602 |
470 | I>T | No |
ClinGen gnomAD |
|
|
rs769478268 CA599119 |
472 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA18011523 rs542858566 |
473 | G>E | No |
ClinGen Ensembl |
|
|
rs774967287 CA599120 |
475 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA338446689 rs1266361856 |
476 | R>* | No |
ClinGen gnomAD |
|
|
RCV000517207 rs1331318781 CA338446692 |
476 | R>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA338446690 rs1331318781 |
476 | R>Q | No |
ClinGen gnomAD |
|
|
CA338446722 rs1209964847 |
478 | M>I | No |
ClinGen gnomAD |
|
|
rs953946892 CA18011524 |
478 | M>V | No |
ClinGen TOPMed |
|
|
CA338446819 rs1418195322 |
485 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs961265542 CA18011571 |
487 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs765516646 CA599127 |
489 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs758215379 CA338446903 CA18011598 |
493 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758215379 CA599129 |
493 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352495173 CA338446945 |
495 | Q>* | No |
ClinGen gnomAD |
|
|
rs1229090521 CA338446950 |
495 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs201240407 CA599132 |
497 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA338447012 rs1320461934 |
497 | M>T | No |
ClinGen gnomAD |
|
|
CA338447051 rs1480507278 |
498 | I>M | No |
ClinGen gnomAD |
|
|
CA599133 rs781077681 |
498 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1238742091 CA338447072 |
499 | D>H | No |
ClinGen gnomAD |
|
|
rs1209668629 CA338447827 |
500 | G>A | No |
ClinGen gnomAD |
|
|
CA338447828 rs1209668629 |
500 | G>D | No |
ClinGen gnomAD |
|
|
rs752815198 CA599145 |
502 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs1569865021 CA338447842 |
502 | K>N | No |
ClinGen Ensembl |
|
|
rs764354760 CA599147 |
507 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs138660745 CA599149 |
508 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146092040 CA338447880 |
510 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA599153 rs779500620 |
516 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1303464284 CA338447930 |
517 | V>G | No |
ClinGen gnomAD |
|
|
rs748821899 CA599154 |
518 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA338447933 rs748821899 |
518 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs369140232 CA599155 |
519 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1042836 CA18012254 |
521 | C>R | No |
ClinGen Ensembl |
|
|
CA338447957 rs747397065 |
522 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs747397065 CA599157 |
522 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1490466394 CA338447960 |
522 | F>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 524 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA599158 rs760184781 |
526 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1569865413 RCV000991838 CA338447989 |
527 | D>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1471617808 CA338448008 |
529 | N>K | No |
ClinGen TOPMed |
|
|
rs1364559093 CA338448028 |
532 | K>T | No |
ClinGen TOPMed |
|
|
rs190705310 CA599161 |
536 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 536 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA599162 rs201099655 |
537 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1027714006 CA18012306 |
538 | Q>E | No |
ClinGen TOPMed |
|
|
CA338448093 rs1453557988 |
541 | I>T | No |
ClinGen gnomAD |
|
|
CA18012308 rs887870089 |
542 | E>A | No |
ClinGen Ensembl |
|
|
CA599164 rs761612104 |
543 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA338448120 rs1425758435 |
545 | F>I | No |
ClinGen TOPMed |
|
|
rs1307950804 CA338448122 |
545 | F>S | No |
ClinGen TOPMed |
|
|
rs767236776 CA599165 |
547 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA338448136 rs1416334489 |
547 | L>P | No |
ClinGen gnomAD |
|
|
rs1456182906 CA338448148 |
549 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA18012336 rs888340216 |
552 | L>V | No |
ClinGen TOPMed |
|
|
rs1323126060 CA338448180 |
554 | N>S | No |
ClinGen gnomAD |
|
|
CA338448186 rs1366486612 |
555 | R>K | No |
ClinGen gnomAD |
|
|
CA599167 rs753317027 |
559 | P>L | No |
ClinGen ExAC |
|
|
rs1219515056 CA338448216 |
560 | K>E | No |
ClinGen gnomAD |
|
|
CA599168 rs754458177 |
560 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA599169 rs778719488 |
561 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA599171 rs771845093 |
563 | R>H | No |
ClinGen ExAC gnomAD |
|
|
COSM1560055 rs746213217 CA599173 |
564 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA599172 COSM75405 rs545454816 |
564 | R>W | ovary large_intestine Variant assessed as Somatic; 9.239e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA338448247 rs770243526 |
565 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18012371 rs971713299 |
566 | L>M | No |
ClinGen Ensembl |
|
|
CA599176 rs776026191 |
567 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553145172 CA324582 |
567 | M>V | No |
ClinGen Ensembl |
|
|
rs1471660995 CA338448262 |
568 | G>S | No |
ClinGen gnomAD |
|
|
rs1405235272 CA338448292 |
572 | Q>E | No |
ClinGen gnomAD |
|
|
rs370335693 CA18012895 |
573 | V>I | No |
ClinGen ESP TOPMed |
|
|
rs763861738 CA599211 |
574 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756441388 CA599213 |
576 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18012915 rs150304304 |
580 | T>M | No |
ClinGen ESP gnomAD |
|
|
rs779366388 CA599217 |
582 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 582 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA599219 rs772078518 |
583 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1335576013 CA338448497 |
585 | S>R | No |
ClinGen gnomAD |
|
|
rs1341015445 CA338448516 |
586 | M>I | No |
ClinGen gnomAD |
|
|
rs1410535348 CA338448504 |
586 | M>V | No |
ClinGen TOPMed |
|
|
rs771043011 CA599222 |
588 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA599224 rs759372833 |
593 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA338448636 rs1280803045 |
594 | L>I | No |
ClinGen gnomAD |
|
|
CA338448770 rs1188482908 |
598 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 598 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775520170 CA599226 |
601 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 612 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA599231 rs755299545 |
612 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA338449285 rs1238734036 |
613 | R>S | No |
ClinGen gnomAD |
|
|
CA599233 rs753132224 |
616 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758899697 CA599234 |
618 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1557533399 CA338449555 |
619 | L>I | No |
ClinGen Ensembl |
|
|
rs200936779 CA18013070 |
620 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145413511 CA599267 COSM180956 |
628 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC |
|
CA599269 rs760375604 |
632 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA325158 RCV000200576 rs863224071 |
635 | A>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs765991120 CA599270 |
636 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA18013519 rs773802724 |
638 | F>L | No |
ClinGen Ensembl |
|
|
rs764683093 CA599273 |
640 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1320373838 CA338450663 |
640 | L>P | No |
ClinGen gnomAD |
|
|
rs866276988 CA18013529 |
641 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA599277 rs756456657 |
644 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1392089408 CA338450820 |
646 | V>A | No |
ClinGen gnomAD |
|
|
rs754683866 CA338450797 |
646 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18013570 rs988111658 |
647 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs778909367 CA599281 |
649 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763492075 CA18013607 |
649 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746502519 CA599284 |
651 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA599285 rs770594602 |
654 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA599286 rs776227002 |
654 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA338451265 rs1322967058 |
658 | E>G | No |
ClinGen TOPMed |
|
|
rs529286489 CA599289 |
659 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA599291 rs377090439 |
660 | A>D | No |
ClinGen ESP ExAC TOPMed |
|
|
CA599290 rs762292163 |
660 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369762154 CA599292 |
663 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA599295 rs755219120 |
665 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA599296 rs778643113 |
668 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747947098 CA599297 |
668 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA18013704 rs778643113 |
668 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA18013741 rs531748892 |
675 | L>F | No |
ClinGen 1000Genomes |
|
|
RCV000426802 rs1057520619 CA16603417 |
676 | V>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA599303 rs745565182 |
677 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769482622 CA599304 |
679 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs772726463 CA599307 |
683 | N>K | No |
ClinGen ExAC |
|
|
rs771237190 CA18013782 |
688 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA599308 rs771237190 |
688 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA338451799 rs1218249174 |
690 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 698 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs879253944 CA10584107 RCV000236084 |
703 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA338453081 rs1293645756 |
705 | V>D | No |
ClinGen gnomAD |
|
|
rs375937289 CA599338 |
707 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338453107 rs1557537210 |
708 | E>G | No |
ClinGen Ensembl |
|
|
CA338453122 rs1251255682 |
709 | N>I | No |
ClinGen gnomAD |
|
|
CA338453147 rs1486405515 |
711 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 713 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA599341 rs370580356 |
714 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA599343 rs144860227 |
716 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA599344 rs771589792 |
716 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA599348 rs775419517 |
721 | I>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 721 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764268203 CA599350 |
722 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA338453300 rs1569883089 |
725 | D>H | No |
ClinGen Ensembl |
|
|
rs1445694373 CA338453305 |
725 | D>V | No |
ClinGen gnomAD |
|
|
CA338453326 rs1317009723 |
726 | S>L | No |
ClinGen gnomAD |
|
|
rs1435523388 CA338453343 |
728 | Q>R | No |
ClinGen TOPMed |
|
|
CA338453352 rs1274191966 |
729 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA338453380 rs1373071856 |
730 | K>R | No |
ClinGen TOPMed |
|
|
rs767383693 CA599354 |
732 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 733 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs900143738 CA18016951 |
734 | L>F | No |
ClinGen Ensembl |
|
| rs755588768 | 735 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755588768 CA599356 |
735 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765967592 CA599357 |
735 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA338453758 rs757975290 |
735 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA338453839 rs1402367279 COSM248808 |
739 | G>S | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA338453889 rs1553146559 RCV000711274 |
741 | L>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000516714 rs1553146561 CA338453930 |
743 | S>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA599381 rs780488977 |
746 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA338454399 rs1259403735 |
747 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 748 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338454496 rs1344389295 |
749 | T>I | No |
ClinGen TOPMed |
|
|
CA18018038 rs868571112 |
754 | Q>K | No |
ClinGen Ensembl |
|
|
rs377146672 CA599384 |
757 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA599385 rs779118705 |
758 | R>Y | No |
ClinGen ExAC gnomAD |
No associated diseases with O95140
No regional properties for O95140
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O95140 | |||
6 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. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| intrinsic component of mitochondrial outer membrane | The component of the mitochondrial outer membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. |
| microtubule cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. |
| mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTP binding | Binding to GTP, guanosine triphosphate. |
| GTPase activity | Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| blastocyst formation | The initial formation of a blastocyst from a solid ball of cells known as a morula. |
| camera-type eye morphogenesis | The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. |
| mitochondrial fusion | Merging of two or more mitochondria within a cell to form a single compartment. |
| mitochondrial membrane organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrial membrane, either of the lipid bilayer surrounding a mitochondrion. |
| mitochondrion localization | Any process in which a mitochondrion or mitochondria are transported to, and/or maintained in, a specific location within the cell. |
| negative regulation of Ras protein signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of Ras protein signal transduction. |
| negative regulation of smooth muscle cell proliferation | Any process that stops, prevents or reduces the rate or extent of smooth muscle cell proliferation. |
| parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization | A positive regulation of the macromitophagy pathway that is triggered by mitochondrial depolarization and requires the function of a parkin-family molecule. |
| positive regulation of cold-induced thermogenesis | Any process that activates or increases the frequency, rate or extent of cold-induced thermogenesis. |
| positive regulation of vascular associated smooth muscle cell apoptotic process | Any process that activates or increases the frequency, rate or extent of vascular associated smooth muscle cell apoptotic process. |
| positive regulation of vascular associated smooth muscle cell proliferation | Any process that activates or increases the frequency, rate or extent of vascular smooth muscle cell proliferation. |
| protein localization to phagophore assembly site | Any process in which a protein is transported to, or maintained at, the phagophore assembly site (PAS). |
| protein targeting to mitochondrion | The process of directing proteins towards and into the mitochondrion, usually mediated by mitochondrial proteins that recognize signals contained within the imported protein. |
| response to unfolded protein | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an unfolded protein stimulus. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSLLFSRCNS | IVTVKKNKRH | MAEVNASPLK | HFVTAKKKIN | GIFEQLGAYI | QESATFLEDT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YRNAELDPVT | TEEQVLDVKG | YLSKVRGISE | VLARRHMKVA | FFGRTSNGKS | TVINAMLWDK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VLPSGIGHTT | NCFLRVEGTD | GHEAFLLTEG | SEEKRSAKTV | NQLAHALHQD | KQLHAGSLVS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VMWPNSKCPL | LKDDLVLMDS | PGIDVTTELD | SWIDKFCLDA | DVFVLVANSE | STLMQTEKHF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FHKVSERLSR | PNIFILNNRW | DASASEPEYM | EEVRRQHMER | CTSFLVDELG | VVDRSQAGDR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IFFVSAKEVL | NARIQKAQGM | PEGGGALAEG | FQVRMFEFQN | FERRFEECIS | QSAVKTKFEQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HTVRAKQIAE | AVRLIMDSLH | MAAREQQVYC | EEMREERQDR | LKFIDKQLEL | LAQDYKLRIK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QITEEVERQV | STAMAEEIRR | LSVLVDDYQM | DFHPSPVVLK | VYKNELHRHI | EEGLGRNMSD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RCSTAITNSL | QTMQQDMIDG | LKPLLPVSVR | SQIDMLVPRQ | CFSLNYDLNC | DKLCADFQED |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IEFHFSLGWT | MLVNRFLGPK | NSRRALMGYN | DQVQRPIPLT | PANPSMPPLP | QGSLTQEEFM |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VSMVTGLASL | TSRTSMGILV | VGGVVWKAVG | WRLIALSFGL | YGLLYVYERL | TWTTKAKERA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FKRQFVEHAS | EKLQLVISYT | GSNCSHQVQQ | ELSGTFAHLC | QQVDVTRENL | EQEIAAMNKK |
| 730 | 740 | 750 | |||
| IEVLDSLQSK | AKLLRNKAGW | LDSELNMFTH | QYLQPSR |