O00255
PR
Gene name |
MEN1 (SCG2) |
Protein name |
Menin |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4221 |
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
48 structures for O00255
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3U84 | X-ray | 250 A | PDB | ||
| 3U85 | X-ray | 300 A | PDB | ||
| 3U86 | X-ray | 284 A | PDB | ||
| 3U88 | X-ray | 300 A | PDB | ||
| 4GPQ | X-ray | 146 A | PDB | ||
| 4GQ3 | X-ray | 156 A | PDB | ||
| 4GQ4 | X-ray | 127 A | PDB | ||
| 4GQ6 | X-ray | 155 A | PDB | ||
| 4I80 | X-ray | 310 A | PDB | ||
| 4OG3 | X-ray | 201 A | PDB | ||
| 4OG4 | X-ray | 145 A | PDB | ||
| 4OG5 | X-ray | 163 A | PDB | ||
| 4OG6 | X-ray | 149 A | PDB | ||
| 4OG7 | X-ray | 208 A | PDB | ||
| 4OG8 | X-ray | 153 A | PDB | ||
| 4X5Y | X-ray | 159 A | PDB | ||
| 4X5Z | X-ray | 186 A | PDB | ||
| 5DB0 | X-ray | 150 A | PDB | ||
| 5DB1 | X-ray | 186 A | PDB | ||
| 5DB2 | X-ray | 154 A | PDB | ||
| 5DB3 | X-ray | 171 A | PDB | ||
| 5DD9 | X-ray | 162 A | PDB | ||
| 5DDA | X-ray | 183 A | PDB | ||
| 5DDB | X-ray | 154 A | PDB | ||
| 5DDC | X-ray | 162 A | PDB | ||
| 5DDD | X-ray | 214 A | PDB | ||
| 5DDE | X-ray | 178 A | PDB | ||
| 5DDF | X-ray | 166 A | PDB | ||
| 6B41 | X-ray | 261 A | PDB | ||
| 6BXH | X-ray | 244 A | PDB | ||
| 6BXY | X-ray | 182 A | PDB | ||
| 6BY8 | X-ray | 190 A | PDB | ||
| 6E1A | X-ray | 310 A | PDB | ||
| 6O5I | X-ray | 124 A | PDB | ||
| 6OPJ | X-ray | 150 A | PDB | ||
| 6PKC | X-ray | 190 A | PDB | ||
| 6S2K | X-ray | 310 A | PDB | ||
| 6WNH | X-ray | 210 A | PDB | ||
| 7M4T | X-ray | 274 A | PDB | ||
| 7O9T | X-ray | 216 A | PDB | ||
| 7O9X | X-ray | 230 A | PDB | ||
| 7O9Z | X-ray | 198 A | PDB | ||
| 7OA9 | X-ray | 210 A | PDB | ||
| 7UJ4 | X-ray | 196 A | A/B | 1-462 | PDB |
| 8E90 | X-ray | 185 A | A/B | 1-462 | PDB |
| 8GPN | EM | 320 A | K | 1-610 | PDB |
| 8IG0 | X-ray | 260 A | PDB | ||
| AF-O00255-F1 | Predicted | AlphaFoldDB |
1018 variants for O00255
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002372056 RCV001556584 RCV000168423 rs786204242 |
1 | M>I | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs386134250 RCV001055158 RCV000491567 RCV000536890 |
1 | M>L | Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000480514 rs386134250 RCV000508430 RCV000491918 RCV000030198 |
1 | M>V | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381188335 RCV000800118 rs1592661296 |
2 | G>E | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381188323 rs1592661250 RCV000793073 |
4 | K>T | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001229975 rs1114167523 RCV000491928 |
6 | A>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA223917347 rs966793401 RCV000565141 RCV000632111 |
6 | A>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs966793401 RCV001222652 RCV001012794 CA381188308 |
6 | A>T | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1942026974 RCV001269893 RCV002418869 |
7 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210328 rs1942026565 |
8 | K>E | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1942026011 RCV001227378 |
10 | L>R | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001019781 rs1592661082 |
11 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167535 CA381188234 RCV000491909 |
11 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_005425 rs794728614 CA009390 RCV000538512 |
12 | P>L | Multiple endocrine neoplasia, type 1 MEN1; no effect on histone methylation; almost no effect on JUND-binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1262285748 CA381188209 RCV000803145 |
13 | L>P | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1262285748 CA381188210 RCV000694774 |
13 | L>R | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000797298 RCV002325521 CA16622057 rs1209178117 |
14 | R>C | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001021871 rs1592660983 |
15 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381188192 RCV001022586 rs1056705868 |
15 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA223917312 rs1056705868 RCV001043539 |
15 | S>F | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA381188167 RCV001224295 rs1157581823 |
17 | D>G | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001023389 RCV000632125 rs1399824473 CA381188174 |
17 | D>N | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1942022491 RCV001207909 |
20 | V>L | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001302367 rs541476418 |
21 | R>C | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16613641 RCV000477155 rs541476418 |
21 | R>G | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs541476418 RCV001770241 CA061326 RCV000563926 RCV000396094 RCV000864930 |
21 | R>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Hyperparathyroidism [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001055011 rs104894256 |
22 | L>P | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM85829 VAR_005426 RCV000182402 RCV000018157 rs104894256 CA009546 |
22 | L>R | Multiple endocrine neoplasia, type 1 pancreas MEN1; no effect on histone methylation; almost no effect on JUND-binding; no repression of JUND transactivation [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000632091 CA381188076 RCV002377360 rs1328062930 |
24 | A>V | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA381188064 rs1462138625 RCV000707173 |
25 | A>V | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000817082 VAR_005427 CA009584 COSM22645 RCV000018169 RCV000490040 rs28931612 |
26 | E>K | Multiple endocrine neoplasia, type 1 Parathyroid adenoma, somatic parathyroid parathyroid adenoma and MEN1 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1006536599 RCV001039845 |
27 | L>V | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002431933 rs953827589 RCV001327130 CA223917207 |
28 | G>R | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003160439 rs953827589 RCV001054889 |
28 | G>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491222 rs794728615 CA009645 RCV000474533 |
29 | R>* | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs794728615 CA381188027 RCV001303630 RCV002447301 |
29 | R>G | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002375337 RCV001294396 rs1942017685 |
30 | E>G | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060499977 RCV000632084 CA381188001 |
31 | E>G | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001238297 rs1942017514 |
31 | E>K | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16613698 RCV000458419 RCV001019129 rs1060499977 |
31 | E>V | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000463945 RCV000562829 CA061878 rs773089218 |
32 | P>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs771554497 CA10582947 RCV000229989 RCV000492008 |
34 | L>M | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555166711 RCV001851251 RCV000486614 |
36 | L>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491599 RCV002527049 rs1555166695 |
37 | L>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632140 rs1555166695 |
37 | L>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491203 RCV000632104 CA009043 rs794728616 |
38 | S>F | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_005428 | 39 | L>W | MEN1 [UniProt] | Yes | UniProt |
|
RCV000030195 rs386134248 RCV000722115 |
40 | V>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1565652689 RCV000802906 CA381187883 |
42 | G>A | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_005429 | 42 | G>D | MEN1 [UniProt] | Yes | UniProt |
|
RCV001812275 rs1942013583 RCV001302220 |
42 | G>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1592660139 RCV000815127 CA381187871 |
43 | F>L | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000464526 COSM22653 RCV001011173 rs778670301 COSM4135697 CA16613432 |
45 | E>D | Multiple endocrine neoplasia, type 1 pancreas Hereditary cancer-predisposing syndrome parathyroid [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA381187854 COSM1355810 RCV000796726 VAR_005430 rs1592660101 |
45 | E>G | Multiple endocrine neoplasia, type 1 large_intestine MEN1 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
VAR_039587 RCV000696687 RCV000491351 rs1114167491 CA381187857 |
45 | E>K | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000632124 rs1555166681 |
48 | L>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381187811 rs1592660057 RCV001860673 RCV001011589 |
48 | L>P | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001205296 rs1942011819 |
49 | A>T | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381187800 rs1555166674 RCV000632133 |
49 | A>V | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1942011354 RCV001062618 |
50 | V>I | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs869312167 RCV000210355 |
51 | N>missing | Primary hyperparathyroidism [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001239337 rs1942010838 |
51 | N>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555166664 RCV000562813 RCV002530339 CA381187771 |
52 | R>C | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555166664 RCV001340367 |
52 | R>G | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002400286 rs1942010221 RCV001050537 |
52 | R>H | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000486690 RCV000460562 rs1060499990 |
57 | N>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381187722 RCV001012867 rs1171829753 RCV001218098 |
57 | N>K | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1352823623 CA381187714 RCV000632128 RCV002404748 |
59 | P>A | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA381187711 rs768445858 RCV000809017 |
59 | P>R | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001860729 RCV001013000 rs1352823623 CA381187713 |
59 | P>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1942007547 RCV001234671 |
60 | E>G | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381187708 RCV001071121 RCV002402482 rs1174208039 |
60 | E>K | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555166619 RCV000632143 CA381187694 |
62 | T>P | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137880635 RCV000523092 RCV001013550 RCV000559995 CA060980 RCV001821464 |
63 | F>L | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001013466 rs1366457977 RCV000820097 CA381187687 |
63 | F>Y | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000491453 CA381187672 RCV001856928 rs1114167484 |
65 | P>H | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000632119 rs1235900915 CA381187675 |
65 | P>T | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001037759 rs757766498 CA060989 |
67 | P>L | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1343345477 CA381187657 RCV002422559 RCV000699868 |
68 | A>T | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000697108 CA381187652 rs1319371332 |
68 | A>V | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000461607 CA16613486 rs1060499995 |
69 | P>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555166609 RCV001269621 RCV002418346 RCV000462360 |
70 | D>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002415705 RCV000182459 RCV000161945 rs730882136 |
70 | D>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA061004 rs150308912 RCV000574548 RCV000796273 |
70 | D>E | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA381187646 rs1283021293 RCV002418924 RCV001305245 |
70 | D>N | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002422678 rs1283021293 CA381187644 RCV000792347 |
70 | D>Y | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000030199 rs386134251 RCV000182433 |
71 | P>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381187637 rs1592659522 RCV000805744 |
71 | P>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878856863 RCV002422524 RCV000695116 CA223917141 |
72 | P>H | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1114167485 RCV000492040 |
75 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001246047 RCV000255896 rs886039752 CA10588536 |
76 | T>N | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001226580 rs1592659343 |
76 | T>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002448939 RCV002248835 CA381187598 rs1555166567 RCV000632123 |
77 | Y>* | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000804127 CA381187584 rs1555166557 RCV002453782 |
79 | P>L | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555166557 RCV000632130 CA381187585 |
79 | P>R | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167486 RCV000704558 RCV000491464 |
80 | V>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1419086083 RCV000549380 CA381187571 RCV002431541 |
82 | D>H | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555166508 RCV000515518 |
82 | D>missing | Metastatic pancreatic neuroendocrine tumours [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000557501 CA381187564 rs1238113583 RCV002431542 |
82 | D>E | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001300074 CA381187570 rs1419086083 |
82 | D>N | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs752747097 RCV001040361 |
83 | L>Q | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000206170 RCV000182434 RCV000491114 rs587776841 RCV000018173 |
85 | I>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Lipoma, somatic [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000468271 RCV000030201 rs386134253 |
85 | I>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000761068 rs1565651916 CA381187532 |
88 | A>S | Neuroblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167490 RCV000491674 |
89 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064792906 RCV000478848 RCV000460992 |
89 | L>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_065152 | 89 | L>del | MEN1 [UniProt] | Yes | UniProt |
|
RCV000490912 CA381187515 rs1114167527 |
90 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381187518 rs1565651873 RCV000693398 |
90 | Y>C | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1941994887 RCV001043462 |
91 | A>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167516 RCV000491390 |
92 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001204794 rs1488275961 |
92 | R>C | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381187507 rs1488275961 RCV001217959 |
92 | R>G | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs375628323 CA061052 RCV001213301 RCV002436822 |
92 | R>H | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1488275961 RCV001106458 RCV001106457 |
92 | R>S | Multiple endocrine neoplasia, type 1 Hyperparathyroidism [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1565651820 RCV000701865 RCV002440514 CA381187490 RCV003222115 |
94 | T>I | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000817101 rs1592658740 CA381187487 |
95 | A>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555166494 RCV000471670 |
96 | Q>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10588535 RCV001244528 COSM22608 rs886039413 RCV002436089 RCV000255438 |
98 | R>* | Multiple endocrine neoplasia, type 1 pancreas large_intestine Hereditary cancer-predisposing syndrome parathyroid gastrointestinal_tract_(site_indeterminate) [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
| VAR_039588 | 98 | R>L | MEN1 [UniProt] | Yes | UniProt |
|
RCV000808557 CA381187466 rs1592658694 |
98 | R>Q | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1941992512 RCV001238639 |
99 | G>A | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381187456 RCV000810478 rs1592658683 |
100 | A>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000679256 CA223917061 RCV001017890 RCV000632142 rs998337367 |
100 | A>V | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1242887389 RCV001018071 CA381187452 RCV001873307 |
101 | V>I | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs794728639 RCV000018159 RCV000491671 RCV000182435 |
103 | L>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381187432 rs1114167512 RCV000491135 |
104 | S>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1941990096 RCV001067526 |
105 | L>V | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000988574 rs1592658517 |
106 | Y>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000539020 rs1555166466 |
106 | Y>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060499987 RCV000472445 CA16613689 |
106 | Y>* | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381187419 RCV000804799 rs1555166469 RCV000571119 |
106 | Y>C | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001215364 CA381187414 rs1358503577 |
107 | P>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000229514 rs878855191 |
108 | R>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1565651568 RCV000687229 |
108 | R>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA009370 RCV000491814 rs794728647 COSM22646 RCV000182446 RCV000551465 |
108 | R>* | Multiple endocrine neoplasia, type 1 pancreas Hereditary cancer-predisposing syndrome parathyroid [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs794728647 RCV000686088 CA381187410 |
108 | R>G | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1565651551 RCV001214460 CA381187409 |
108 | R>Q | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs773976527 CA061079 RCV000686479 RCV000338822 |
109 | E>D | Multiple endocrine neoplasia, type 1 Hyperparathyroidism [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000632088 RCV000571825 CA381187402 rs1555166447 |
109 | E>G | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001036768 COSM390459 RCV000708706 CA381187396 rs1389398299 |
110 | G>A | lung Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
CA381187395 rs1389398299 RCV001049265 VAR_039589 RCV002320278 |
110 | G>E | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs1941987221 RCV001043888 |
111 | G>R | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491402 rs1114167478 |
113 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001305573 rs1941986326 |
113 | S>F | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000309108 RCV001046917 RCV000490981 rs886041213 |
114 | S>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000709161 CA381187368 RCV001020310 rs1565651402 |
115 | R>G | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491521 RCV001755730 CA381187365 rs1114167507 RCV000526098 |
115 | R>H | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060499992 RCV000469372 CA16613475 RCV002451060 |
116 | E>* | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA381187362 rs1060499992 RCV001296254 |
116 | E>K | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000508545 rs1555166387 RCV002455979 RCV001380012 |
117 | L>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060499975 RCV002339107 RCV000472854 CA16613633 |
118 | V>M | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_005431 | 119 | K>del | MEN1 [UniProt] | Yes | UniProt |
|
RCV000232425 CA10582945 rs878855192 |
120 | K>* | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000182460 RCV000018160 rs794728657 RCV000491280 |
120 | K>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706162 rs863224812 RCV002458317 CA381187329 |
121 | V>F | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002460056 CA338424 RCV000199154 rs863224812 |
121 | V>I | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1941983276 RCV001070452 |
122 | S>P | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1941982919 RCV001215633 |
123 | D>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555166368 RCV001198162 RCV000626631 |
124 | V>missing | Multiple endocrine neoplasia, type 1 Primary hyperparathyroidism [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491802 rs1114167492 |
125 | I>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381187290 RCV000632079 COSM23055 rs1555166365 |
126 | W>* | Multiple endocrine neoplasia, type 1 adrenal_gland [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001021093 rs1592657993 CA381187297 |
126 | W>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1941981145 RCV001320746 |
127 | N>K | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1565651223 RCV002352222 RCV000707308 |
129 | L>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555166357 CA381187243 RCV000555824 |
133 | Y>C | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000018161 RCV000491332 RCV000182436 rs397515385 |
134 | F>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000018174 COSM22642 rs121913034 CA009406 |
135 | K>* | Angiofibroma, somatic soft_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
| VAR_005434 | 135 | K>I | MEN1 [UniProt] | Yes | UniProt |
|
RCV000226206 CA10582944 rs121913034 |
135 | K>Q | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000822487 rs1592657785 |
136 | D>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1941979334 RCV001327184 |
136 | D>H | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381186824 rs1208267598 RCV000709160 |
137 | R>W | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1114167540 RCV000490828 |
139 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_005432 rs104894263 RCV000491226 CA009410 RCV000018179 |
139 | H>D | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome MEN1; almost complete loss of histone methylation; strong decrease in JUND-binding; no repression of JUND transactivation; reduced interaction with KMT2A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_039590 | 139 | H>P | MEN1 [UniProt] | Yes | UniProt |
|
CA009417 rs386134254 RCV000030202 |
139 | H>Q | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167515 CA381186797 VAR_039591 RCV000491708 |
139 | H>R | Hereditary cancer-predisposing syndrome MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_005433 rs104894263 RCV001224950 |
139 | H>Y | Multiple endocrine neoplasia, type 1 MEN1; familial and sporadic cases; almost no effect on JUND-binding; no repression of JUND transactivation [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
rs376510601 CA381186778 RCV000632107 RCV002331117 |
140 | I>F | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000255977 CA10588534 rs886039553 RCV000632106 |
141 | Q>* | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001323222 CA061129 COSM22611 rs758846538 |
141 | Q>R | Multiple endocrine neoplasia, type 1 pancreas [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs1941976986 RCV001322404 |
142 | S>F | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001338745 RCV002329309 rs1941976986 |
142 | S>Y | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167481 RCV000491827 |
144 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491657 CA645369508 rs1114167511 |
144 | F>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167543 RCV000491902 CA381186717 RCV001000177 VAR_005436 |
144 | F>V | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM22618 CA381186707 COSM1355807 rs778932605 RCV000491899 |
145 | S>R | pancreas large_intestine Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
| VAR_065153 | 147 | I>F | MEN1 [UniProt] | Yes | UniProt |
|
rs1941975256 RCV002327581 RCV001240328 |
148 | T>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381186661 RCV001856929 RCV000492024 rs1114167537 |
148 | T>A | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001043217 rs1941974933 |
150 | W>* | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1941974766 RCV001233955 |
150 | W>* | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1565648789 RCV000703817 CA381186284 VAR_039592 |
158 | D>V | Multiple endocrine neoplasia, type 1 MEN1; also found in isolated hyperparathyroidism [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1941873896 RCV001320603 VAR_039593 |
159 | S>I | Multiple endocrine neoplasia, type 1 MEN1 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
| VAR_039594 | 160 | S>F | MEN1 [UniProt] | Yes | UniProt |
|
RCV000030203 rs386134255 |
161 | G>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001880194 RCV002327616 rs1085307471 RCV001269563 |
161 | G>C | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491482 rs794728648 RCV000425558 CA16605985 RCV000466874 |
161 | G>D | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381186242 RCV000489416 rs1085307471 RCV003155212 |
161 | G>R | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA381186245 RCV002332492 RCV001269816 rs1085307471 RCV000702784 |
161 | G>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555165872 RCV000632108 CA381186239 |
162 | V>M | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs794728617 RCV000474814 CA009435 COSM3724539 |
163 | A>D | lung Multiple endocrine neoplasia, type 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
rs794728617 RCV002334332 CA223915838 RCV000697548 |
163 | A>V | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1941871397 RCV001343081 RCV002341705 |
164 | F>L | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000567404 rs1555165861 CA381186196 |
164 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002334355 CA381186185 VAR_005437 rs1565648656 RCV001269817 RCV000702232 |
165 | A>P | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome MEN1; strong decrease in JUND-binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_039595 | 165 | A>T | MEN1 [UniProt] | Yes | UniProt |
|
RCV000632131 rs748648909 RCV002334065 CA061208 |
167 | V>A | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_039596 | 167 | V>F | MEN1 [UniProt] | Yes | UniProt |
|
RCV001220086 rs1565648547 VAR_005438 |
169 | A>D | Multiple endocrine neoplasia, type 1 MEN1 [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV000807278 rs1311408888 CA381186123 |
169 | A>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000702798 COSM85853 rs1565648547 CA381186117 |
169 | A>V | Multiple endocrine neoplasia, type 1 pancreas [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1592651767 RCV000793204 CA381186105 |
170 | C>* | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_039597 | 170 | C>R | MEN1 [UniProt] | Yes | UniProt |
|
CA16605984 rs1057521111 RCV000632126 RCV000442726 |
170 | C>Y | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_005439 | 171 | Q>del | MEN1 [UniProt] | Yes | UniProt |
|
RCV001023414 rs200432722 CA381186065 |
172 | A>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000030205 CA009447 rs386134256 VAR_039598 |
173 | L>P | Multiple endocrine neoplasia, type 1 MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000632089 rs1555165846 CA381186060 |
173 | L>V | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001318355 rs71526465 |
174 | G>R | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001211689 rs71526465 CA223915799 |
174 | G>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001337463 rs1941866849 |
175 | L>P | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001023592 RCV001318116 CA381186023 rs607969 |
176 | R>P | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM23054 VAR_005440 RCV001106456 RCV000082337 RCV000210794 RCV000034787 rs607969 RCV000119143 RCV000202713 CA009454 |
176 | R>Q | Multiple endocrine neoplasia, type 1 Multiple endocrine neoplasia adrenal_gland Hereditary cancer-predisposing syndrome Hyperparathyroidism [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000455664 rs143329068 RCV000148612 RCV000410523 RCV000569499 RCV000766972 RCV003153432 CA009448 COSM1355806 |
176 | R>W | Multiple endocrine neoplasia, type 1 large_intestine Hereditary cancer-predisposing syndrome Hyperparathyroidism Ovarian cancer [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM22624 RCV000492009 RCV000182406 CA009460 rs794728618 |
177 | D>V | lung Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
VAR_005441 RCV000507490 rs1114167494 RCV000491441 CA381186018 |
177 | D>Y | Hereditary cancer-predisposing syndrome MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001223479 rs1941864588 |
181 | A>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491572 RCV000505771 rs376872829 CA009468 VAR_005442 RCV000551917 |
181 | A>P | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome MEN1; loss of JUND-binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000632090 RCV000573513 rs376872829 CA061279 RCV002253513 |
181 | A>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001023830 RCV001060544 CA381185958 rs376872829 |
181 | A>T | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1114167470 RCV000491904 |
182 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000490885 rs1114167503 |
182 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000813107 CA381185929 rs865919253 |
182 | L>V | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000523027 CA381185887 VAR_005443 RCV000521106 rs1555165811 CA381185889 RCV001228587 |
184 | E>D | Multiple endocrine neoplasia, type 1 MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
rs1555165809 CA658658067 RCV000545198 |
184 | E>DY | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16619365 VAR_039599 rs1064793167 RCV000483982 |
184 | E>K | MEN1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_039600 | 184 | E>Q | MEN1 [UniProt] | Yes | UniProt |
|
rs1064794683 COSM1577229 CA16619364 RCV000487365 RCV001049493 |
185 | D>V | Multiple endocrine neoplasia, type 1 parathyroid [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001069023 rs1941861451 RCV002348477 RCV001574143 VAR_039601 |
186 | H>R | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome MEN1 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
CA009485 RCV003165391 COSM85847 RCV000659844 rs794728650 |
188 | W>* | Multiple endocrine neoplasia, type 1 pancreas Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
| VAR_005444 | 188 | W>S | MEN1 [UniProt] | Yes | UniProt |
|
rs104894262 CA009488 VAR_005445 RCV000018177 |
189 | V>E | Multiple endocrine neoplasia, type 1 probable disease-associated variant found in isolated hyperparathyroidism [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA061289 RCV001024261 rs764847812 RCV000558442 |
190 | V>A | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1265797059 RCV001321300 |
190 | V>L | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000529950 RCV002350189 rs1555165756 |
193 | P>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA009496 RCV000455592 RCV000200394 RCV000708708 rs199706698 RCV000148613 |
193 | P>L | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Hyperparathyroidism [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1212919060 CA381185700 RCV001315304 |
194 | N>K | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001024385 rs587780844 RCV003153410 RCV000123386 CA009502 |
194 | N>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs878855195 RCV000229709 CA10582941 |
195 | G>E | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381185697 RCV000632127 rs1555165742 RCV001024412 |
195 | G>R | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001024469 CA381185667 rs1592651018 RCV001862290 |
196 | E>D | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001024521 rs1592650986 |
198 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1592650971 RCV001340366 |
198 | T>I | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381185630 rs1592650971 RCV000802976 |
198 | T>R | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1592650893 RCV000794077 CA381185553 RCV003166114 |
202 | T>I | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA009518 RCV000632134 rs104894257 COSM1577230 |
203 | W>* | Multiple endocrine neoplasia, type 1 parathyroid [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
COSM1577230 RCV000018162 rs104894258 CA009514 |
203 | W>* | Multiple endocrine neoplasia, type 1 parathyroid [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs150512958 CA381185509 RCV002358449 RCV000547248 |
204 | H>Q | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1592650813 COSM930219 CA381185500 RCV000823899 |
205 | G>S | Multiple endocrine neoplasia, type 1 endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1941854779 RCV001216886 |
207 | G>D | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002357135 RCV001316658 rs1392579402 CA381185410 |
211 | R>C | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000697796 rs1565647825 CA381185405 RCV002352168 |
211 | R>H | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002365954 rs1941853632 RCV001212253 |
212 | R>G | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000490861 rs1114167538 |
214 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM250167 CA381185382 rs1565647767 RCV000692015 |
214 | Q>* | Multiple endocrine neoplasia, type 1 parathyroid [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA381185372 RCV001343884 rs1565647751 RCV000694820 |
214 | Q>H | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
rs794728640 RCV000018163 RCV000182437 RCV000491752 |
215 | T>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000471586 CA16613473 rs756287855 |
215 | T>R | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1941851693 RCV000018182 |
216 | V>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381185356 rs1565647698 RCV000685919 |
216 | V>G | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000232633 rs878855196 |
217 | N>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000472651 CA16613421 rs1060499980 |
217 | N>D | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002248834 RCV002510940 rs1438685841 RCV002360516 CA381185348 RCV000632102 |
217 | N>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1114167518 RCV002527050 CA645369568 RCV000491024 |
218 | A>E | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001056652 rs1941850919 |
219 | G>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA061345 RCV000205360 COSM1704225 rs781493730 RCV001025237 |
219 | G>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs386134257 RCV000722116 RCV000030206 |
220 | V>GPW | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001797061 VAR_039603 rs794728621 CA009535 RCV000230442 |
220 | V>M | Multiple endocrine neoplasia, type 1 MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1592650523 CA381185313 RCV000802474 |
221 | A>P | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001212796 rs1423517569 |
223 | R>P | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001025386 CA381185291 rs1423517569 RCV001056016 |
223 | R>Q | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000410087 CA009550 rs794728620 RCV001818447 RCV002362933 |
223 | R>W | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000696600 CA381185232 rs1565647197 COSM291152 |
225 | W>* | Multiple endocrine neoplasia, type 1 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA10588533 RCV000490921 RCV001224068 RCV000256041 rs886039414 COSM291152 |
225 | W>* | Multiple endocrine neoplasia, type 1 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA381185229 RCV000704895 rs886039414 |
225 | W>C | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1085307971 CA381185239 RCV002367666 RCV000489379 |
225 | W>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381185212 RCV001025511 rs1555165597 CA009568 |
227 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen Ensembl ClinVar dbSNP |
|
RCV001347617 rs1941830592 |
227 | Y>D | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555165601 CA381185215 RCV000632115 |
227 | Y>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10588532 VAR_005446 RCV001235431 rs886039415 RCV000255095 RCV000491535 |
228 | L>P | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000433003 rs1057521110 VAR_039604 CA16605982 |
230 | G>R | MEN1 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000560572 rs778921501 CA381184686 RCV001269815 |
232 | Y>* | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001025697 RCV000476428 rs1060499982 CA16613629 |
233 | M>V | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001229546 RCV000491507 rs1114167519 |
234 | R>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000196791 CA061444 rs754378887 RCV001795326 RCV001025738 |
234 | R>C | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002469085 RCV000233998 rs878855197 RCV001025749 CA10582939 |
234 | R>H | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_039605 | 234 | R>L | MEN1 [UniProt] | Yes | UniProt |
|
RCV002374934 RCV001056867 rs1941827572 |
236 | D>H | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381184625 RCV001025835 rs1225847249 RCV000536638 |
237 | R>C | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1941826992 RCV001042600 |
237 | R>H | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555165565 RCV000577839 |
238 | K>missing | Ependymoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167499 CA381184614 RCV000491703 |
238 | K>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1592649270 CA381184612 RCV000812047 |
238 | K>T | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381184587 RCV000632103 rs1448041546 |
239 | M>I | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001217728 rs1296948476 CA381184601 |
239 | M>L | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000491739 COSM1237085 CA381184581 rs1114167488 |
240 | E>K | Hereditary cancer-predisposing syndrome parathyroid [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000491559 rs1114167534 |
242 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA061467 RCV000465273 RCV001026052 rs760289964 |
242 | A>V | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002551949 RCV001026113 rs1441995061 CA381184507 |
244 | M>T | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_039606 | 245 | V>F | MEN1 [UniProt] | Yes | UniProt |
| VAR_039607 | 246 | C>F | MEN1; loss of interaction with KMT2A and JUND [UniProt] | Yes | UniProt |
|
RCV000816677 CA381184471 VAR_008018 RCV002372308 rs1592649108 RCV002293487 |
246 | C>R | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000461795 VAR_039608 RCV001812172 RCV000491344 CA009579 rs794728624 |
246 | C>Y | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001862359 rs1592649069 RCV001026184 |
247 | A>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_005447 | 247 | A>V | MEN1; almost complete loss of histone methylation; loss of JUND-binding; no repression of JUND transactivation; reduced interaction with KMT2A [UniProt] | Yes | UniProt |
|
RCV000491474 rs1114167532 |
248 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1565646772 RCV000761296 |
250 | P>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1373521153 RCV001230337 CA381184382 |
250 | P>A | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1175283759 CA381184371 RCV003159749 RCV000548928 |
251 | S>A | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555165503 RCV000524643 |
252 | I>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001053547 CA223915383 RCV001026403 rs1043531053 |
252 | I>T | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA381184355 rs1555165508 RCV000632132 |
252 | I>V | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001340765 rs1824195184 |
254 | L>Q | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000796395 rs1592648830 |
256 | T>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770368608 RCV000704960 RCV001026555 CA061495 |
257 | D>H | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs770368608 RCV001204488 RCV001026554 CA381184274 |
257 | D>N | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs770368608 CA061503 RCV000228896 RCV002392720 |
257 | D>Y | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1592648765 RCV000800811 |
258 | S>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA009595 rs386134259 RCV000030209 |
258 | S>* | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
COSM22594 RCV000460727 RCV000491434 RCV002253274 rs386134259 CA009601 |
258 | S>L | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome prostate parathyroid [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
| VAR_039609 | 258 | S>P | MEN1 [UniProt] | Yes | UniProt |
|
CA16613469 rs386134259 RCV000470590 VAR_039610 |
258 | S>W | Multiple endocrine neoplasia, type 1 parathyroid tumor [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001753420 VAR_005448 CA009605 RCV000018176 rs104894268 |
260 | E>K | Multiple endocrine neoplasia, type 1 probable disease-associated variant found in isolated hyperparathyroidism [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000757459 RCV000541629 rs104894268 CA381184221 |
260 | E>Q | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878855198 RCV001269984 CA10582938 RCV000234599 |
261 | L>F | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000664332 rs1555165488 |
262 | L>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886039416 RCV000632105 RCV000255776 CA10588531 |
263 | Q>* | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000690002 RCV001026760 rs886039416 CA381184170 |
263 | Q>E | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000573824 COSM3687502 RCV000034788 RCV000379424 CA009610 RCV000463800 rs374659656 |
263 | Q>H | Multiple endocrine neoplasia, type 1 large_intestine Hereditary cancer-predisposing syndrome Hyperparathyroidism [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_039611 | 264 | L>R | MEN1 [UniProt] | Yes | UniProt |
|
RCV000491298 RCV000018170 rs104894266 CA009615 |
265 | Q>* | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057520733 CA16606275 RCV000419478 RCV002411313 RCV000554384 |
266 | Q>* | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_039613 | 266 | Q>QLQ | MEN1 [UniProt] | Yes | UniProt |
|
RCV000561461 rs1555165373 CA381184013 RCV000632100 |
267 | K>R | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491663 RCV000811434 CA381183996 rs1114167502 |
268 | L>P | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1941794175 RCV001211834 VAR_005449 |
269 | L>P | Multiple endocrine neoplasia, type 1 MEN1 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs1592647398 RCV001269681 RCV000808722 CA381183963 |
270 | W>* | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA061607 rs773500082 RCV003148675 RCV000199390 RCV001027095 |
273 | Y>C | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001071802 rs1941793463 |
274 | D>G | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878855199 CA10582937 RCV000228494 |
274 | D>N | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381183920 RCV003106101 RCV001027173 RCV001232103 rs1592647333 |
275 | L>P | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1941792670 RCV001207821 |
276 | G>A | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381183918 rs1565645918 RCV000705180 |
276 | G>R | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000804447 rs1592647281 CA16044440 RCV001269820 |
278 | L>P | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1941791593 RCV001215368 |
279 | E>K | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001269679 rs1555165360 RCV000632135 |
280 | R>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002406733 CA381183865 RCV000793594 rs1592647235 |
280 | R>G | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000820746 rs1187634059 RCV002427053 CA381183860 |
280 | R>K | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16619360 RCV000491793 RCV000823755 RCV000484977 rs1060503789 |
281 | Y>* | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA381183783 RCV000565609 RCV000632097 rs1555165327 |
281 | Y>C | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000471154 CA16613405 RCV000568673 RCV001824785 VAR_039615 rs1060499973 |
282 | P>H | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome probable disease-associated variant found in isolated hyperparathyroidism [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000539049 RCV001811031 CA381183763 rs1060499973 |
282 | P>L | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs794728626 RCV000491119 CA009640 |
283 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000810806 CA381183750 rs1592646765 |
283 | M>R | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs368619946 RCV001017703 RCV000797745 CA061706 |
285 | L>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000490992 CA381183705 rs1114167493 VAR_039616 |
286 | G>R | Hereditary cancer-predisposing syndrome MEN1; loss of interaction with KMT2A and JUND [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001017836 RCV002550833 rs1592646672 CA381183683 |
287 | N>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_005451 CA381183654 RCV000695678 COSM3383714 rs1565645563 |
289 | A>E | Multiple endocrine neoplasia, type 1 pancreas MEN1 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
| VAR_005452 | 291 | L>P | MEN1; almost no effect on JUND-binding [UniProt] | Yes | UniProt |
|
rs1213891703 CA381183566 RCV001821504 RCV000532389 RCV002377017 |
295 | E>A | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001018178 CA381183568 rs1335117435 RCV000800612 |
295 | E>K | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1335117435 RCV001303715 |
295 | E>Q | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1213891703 CA381183564 RCV002370093 RCV000797291 |
295 | E>V | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA061743 RCV001058116 RCV002374938 rs780646691 |
297 | T>I | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001038270 rs1941778425 |
299 | G>D | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381183545 RCV000686248 rs1565645429 |
299 | G>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381183538 COSM1561684 rs1397110438 RCV000544579 |
300 | R>Q | Multiple endocrine neoplasia, type 1 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs1046929915 CA16613627 RCV000491071 RCV000470592 |
300 | R>W | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1941777494 RCV001307785 |
301 | P>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001018488 CA381183525 RCV001212724 rs1592646361 |
302 | D>G | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632085 rs1555165268 RCV002377359 CA381183520 |
303 | P>A | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1592646339 RCV001231823 RCV002375235 |
304 | L>I | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381183514 RCV001018545 RCV002549479 rs1592646339 |
304 | L>V | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1941776482 RCV001211267 RCV002375161 |
305 | T>I | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001018589 RCV001363994 CA381183507 rs1592646309 |
305 | T>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001056839 rs1941775680 |
306 | L>I | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA061762 rs373805140 RCV000819277 RCV002372330 |
308 | H>R | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002447280 RCV001299046 rs1941775165 |
308 | H>Y | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001018879 rs1592646226 |
309 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003163576 RCV001208050 rs1941774610 |
309 | K>E | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1592646211 RCV001175140 |
309 | K>N | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555165146 RCV002377018 CA381183461 RCV000545782 |
310 | G>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000757458 rs1565644366 CA381183442 RCV002370009 |
313 | S>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16619359 RCV000491064 rs1064793169 RCV000482667 |
313 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_005453 | 314 | A>P | MEN1; no effect on histone methylation; almost no effect on JUND-binding [UniProt] | Yes | UniProt |
|
RCV001247545 rs1941731256 |
315 | K>N | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000692458 rs1565644342 CA381183423 |
316 | T>I | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_039619 | 316 | T>P | MEN1 [UniProt] | Yes | UniProt |
|
rs1565644342 RCV001019176 CA381183421 |
316 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1577233 RCV000030210 RCV000082340 rs386134260 CA009655 RCV002371793 |
317 | Y>* | lung Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome parathyroid [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000813834 rs1592643944 CA381183415 |
317 | Y>F | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381183406 rs1555165128 RCV000508282 RCV002376942 |
318 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_005454 | 319 | R>P | MEN1 [UniProt] | Yes | UniProt |
|
RCV000573174 rs771645621 CA061855 RCV002307550 RCV001103402 RCV000632120 |
319 | R>Q | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Hyperparathyroidism [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA061850 RCV001053228 rs139936447 |
319 | R>W | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA381183398 rs1114167487 RCV000491248 |
320 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000494086 RCV001202722 rs747851909 CA061863 |
320 | D>Y | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001040248 RCV002445226 rs756604268 CA061874 |
321 | E>D | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs780563052 RCV001294321 CA061868 |
321 | E>K | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA381183385 VAR_039620 rs1114167495 RCV000491775 |
322 | H>R | Hereditary cancer-predisposing syndrome MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_039621 | 322 | H>Y | MEN1 [UniProt] | Yes | UniProt |
|
rs1565644220 RCV000703285 CA381183380 |
323 | I>V | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000030211 rs386134261 |
324 | Y>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555165101 CA381183374 RCV000545546 |
324 | Y>D | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167469 RCV002473024 COSM22663 VAR_039622 RCV000491619 CA381183361 |
325 | P>L | Hereditary cancer-predisposing syndrome parathyroid MEN1 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1114167469 RCV001269633 VAR_039623 |
325 | P>R | MEN1 [UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV001345277 rs1941726727 RCV002384474 |
325 | P>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000707510 rs947594206 CA223914458 |
327 | M>I | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381183350 RCV000557965 rs1555165089 RCV002377019 |
327 | M>L | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1941725569 RCV001296671 |
327 | M>R | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001108575 rs1941725569 RCV001108574 |
327 | M>T | Multiple endocrine neoplasia, type 1 Hyperparathyroidism [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381183351 RCV000632095 rs1555165089 |
327 | M>V | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000490858 rs1114167541 |
328 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000521767 CA16613392 RCV000492010 rs750904332 RCV000469199 CA381183338 RCV000632110 RCV001269821 |
328 | Y>* | Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001307430 rs1941723156 |
329 | L>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167508 RCV000491495 |
329 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381183329 rs370840265 RCV000533724 |
330 | A>D | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_039624 | 330 | A>P | MEN1 [UniProt] | Yes | UniProt |
|
RCV000515531 rs1555165008 CA658656153 |
332 | Y>* | Metastatic pancreatic neuroendocrine tumours [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs377403837 CA223914454 RCV000695160 RCV003117492 |
332 | Y>C | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
rs1259383083 RCV001280627 RCV002379973 |
332 | Y>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000179998 CA009664 rs794727882 RCV000632139 |
333 | H>D | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000690773 rs794727882 CA381183314 |
333 | H>N | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001019861 RCV000691929 rs1565644005 CA381183297 |
335 | R>C | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001216471 rs1565644005 |
335 | R>G | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA061906 COSM1355797 RCV000632116 rs373135175 RCV000573622 |
335 | R>H | Multiple endocrine neoplasia, type 1 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000460980 CA16613625 rs373135175 |
335 | R>L | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000527000 COSM22620 CA381183296 rs373135175 |
335 | R>P | Multiple endocrine neoplasia, type 1 pancreas [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1941721650 RCV001235174 |
337 | R>C | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555165027 RCV000566020 CA381183273 |
339 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491102 rs1114167506 |
340 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000466812 RCV002402228 CA059675 rs764998893 |
340 | R>Q | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs371364206 CA381183266 RCV000525951 RCV001009661 |
340 | R>W | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000491786 RCV001041721 rs1114167529 |
341 | E>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167483 RCV000491485 |
341 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_005455 rs2071312 VAR_039625 RCV000467805 CA16613621 |
342 | A>D | Multiple endocrine neoplasia, type 1 MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2071312 VAR_039625 |
342 | A>P | MEN1 [UniProt] | Yes |
UniProt dbSNP |
|
rs1114167480 RCV000491393 RCV000494328 CA381183249 |
343 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000468728 rs759337318 RCV001016949 CA059690 |
343 | L>V | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000030191 rs386134245 |
344 | Q>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001017005 rs1592643178 CA381183245 |
344 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1941717148 RCV001203263 |
345 | A>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000538522 CA381183230 RCV000491036 rs1114167482 |
346 | W>* | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_005456 | 346 | W>R | MEN1 [UniProt] | Yes | UniProt |
|
RCV000509058 rs1555164986 |
347 | A>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_039626 rs776561706 CA381183224 RCV000632117 |
347 | A>P | Multiple endocrine neoplasia, type 1 MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs377715802 CA059707 RCV002384057 RCV000531650 COSM3718424 |
347 | A>V | Multiple endocrine neoplasia, type 1 upper_aerodigestive_tract Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000226644 CA10582934 rs878855185 |
348 | D>E | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632122 CA381183208 rs1259681826 |
349 | T>M | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_005457 | 349 | T>R | MEN1; almost complete loss of histone methylation; almost no effect on JUND-binding; yields insoluble protein [UniProt] | Yes | UniProt |
|
rs1592642971 CA381183174 RCV000799507 |
352 | V>D | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_039627 | 353 | I>N | MEN1 [UniProt] | Yes | UniProt |
|
CA381182998 RCV000491822 rs767078097 |
356 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_039628 | 358 | Y>D | MEN1 [UniProt] | Yes | UniProt |
|
RCV000816807 rs1592640870 CA381182960 |
358 | Y>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000018185 CA009004 rs104894265 |
359 | C>* | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs371503251 RCV000699682 RCV000574233 CA059880 |
359 | C>R | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs904261642 CA381182936 RCV000551988 RCV002413455 |
359 | C>Y | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs386134246 RCV000030193 |
360 | R>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001204111 rs863224807 |
360 | R>G | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491631 rs1114167474 RCV000761778 RCV000797646 CA381182908 |
360 | R>Q | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632081 CA381182913 RCV001009797 rs863224807 VAR_039629 |
360 | R>W | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
| VAR_039630 | 362 | D>H | MEN1 [UniProt] | Yes | UniProt |
|
rs768448073 CA059898 RCV000793965 |
362 | D>N | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000463375 rs1060499971 |
364 | E>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267607234 CA009018 RCV000018175 |
364 | E>K | Angiofibroma, somatic [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_005458 CA223914042 rs387906552 |
364 | E>K | MEN1 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000490826 CA381182795 rs1114167475 |
365 | I>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001300659 rs1941672276 |
367 | K>E | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491660 rs869025185 RCV000255250 RCV000018165 VAR_005459 |
368 | E>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome MEN1 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs869025185 VAR_005459 |
368 | E>del | MEN1 [UniProt] | Yes |
UniProt dbSNP |
|
RCV000196551 CA336516 rs863224808 |
369 | F>L | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1592640479 CA381182684 RCV000813316 |
370 | F>L | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA009023 RCV000567306 rs149383809 RCV000161928 RCV002267897 |
371 | E>D | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1592640213 RCV001017302 |
372 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001289028 RCV000456726 CA059937 RCV000569841 rs758404089 |
372 | V>I | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000659846 CA381182610 rs1555164707 VAR_005460 |
373 | A>D | Multiple endocrine neoplasia, type 1 MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA381182620 rs1114167473 RCV000491208 |
373 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381182623 rs1114167473 RCV000491157 |
373 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381182595 rs1368034727 RCV001216536 |
374 | N>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs794728658 RCV001017331 RCV000182461 |
375 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001317008 RCV003166821 rs1941669758 |
376 | V>I | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_039631 | 377 | I>M | MEN1 [UniProt] | Yes | UniProt |
|
rs794728627 RCV002433803 RCV000505726 CA009036 |
378 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381182487 rs794728627 RCV000709158 VAR_039632 |
378 | P>S | Multiple endocrine neoplasia, type 1 MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV003166824 rs755168633 RCV001317315 CA059976 |
379 | N>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001234170 rs1941668371 |
380 | L>Q | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1211957325 RCV000632112 RCV000575830 CA381182444 |
380 | L>V | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000491871 CA381182424 rs1114167471 |
381 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167471 RCV000491062 CA381182422 |
381 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA059992 RCV000632138 rs766075737 RCV003162805 |
382 | K>R | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA381182361 RCV001009941 RCV001215725 rs1592640172 |
384 | A>E | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001002347 rs1592640181 |
385 | A>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000695794 CA381182349 rs1565642307 |
385 | A>G | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002322000 RCV001201836 rs1225964479 CA381182357 |
385 | A>T | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_039633 RCV001703217 rs1298484645 CA381182214 RCV000632086 RCV001010012 |
390 | A>V | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs1592640081 RCV001010010 |
391 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA060027 RCV000570220 rs761360623 RCV000204534 |
391 | G>D | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767595183 RCV001216689 RCV002365975 CA060019 |
391 | G>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA060044 RCV002374736 RCV000467350 rs773978650 |
392 | E>K | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000800804 RCV001017498 rs775267651 CA381182115 |
394 | R>P | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001017497 RCV000203887 rs775267651 CA060070 |
394 | R>Q | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs566593066 CA16613614 RCV001017493 RCV000463517 |
394 | R>W | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000568225 CA060092 rs761102084 RCV000994656 RCV000457486 RCV001821219 |
395 | P>L | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000632078 rs761102084 CA060079 |
395 | P>R | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001300942 rs998827212 CA223913956 RCV002327650 |
396 | G>E | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000714231 rs386134247 RCV000255795 RCV000030194 |
397 | E>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000523599 RCV002329011 rs772588551 CA16613679 RCV000476658 |
397 | E>* | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000491380 rs1060499984 RCV001203901 CA381182053 COSM22604 |
398 | Q>* | Multiple endocrine neoplasia, type 1 thymus Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000708704 rs1060499984 CA16613386 RCV000472220 |
398 | Q>E | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs934222398 CA16613381 RCV000472591 |
399 | S>T | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001310029 rs1941628720 |
402 | T>I | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381180801 RCV001342349 RCV001010268 rs886039418 |
403 | Q>E | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000806343 rs1592637824 CA381180793 |
403 | Q>H | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632080 rs1555164430 |
404 | S>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001308298 rs1941626700 RCV002341617 |
404 | S>G | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000255350 RCV001198769 CA10588528 rs886039419 COSM85842 |
405 | Q>* | Multiple endocrine neoplasia, type 1 pancreas [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs886039419 RCV001339158 |
405 | Q>K | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001037823 rs1941625647 RCV002346250 |
406 | G>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878855186 RCV000229429 RCV002347916 CA10582933 |
406 | G>V | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001227911 rs1941624571 |
408 | A>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632136 CA060300 RCV002343215 rs746135199 |
408 | A>T | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16613462 RCV000472387 rs1060499989 |
409 | L>F | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001215096 rs1941623255 |
409 | L>H | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000205609 RCV002354582 RCV000506315 rs864622615 CA349734 RCV000256143 |
410 | Q>* | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491633 RCV001390120 rs1114167513 |
411 | D>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000803877 rs1592637455 |
411 | D>* | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000806985 RCV003148867 rs1592637440 |
412 | P>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000457365 CA16613461 rs1060499985 |
412 | P>A | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001211418 rs1941620661 |
413 | E>Q | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167524 RCV000546948 RCV000491151 |
414 | C>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000466185 CA16613671 rs1060499988 RCV001010429 |
414 | C>Y | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_039634 | 416 | A>P | MEN1; also found in isolated hyperparathyroidism [UniProt] | Yes | UniProt |
|
RCV002363020 RCV000196723 rs757179911 RCV003151755 CA336654 |
416 | A>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000559474 RCV003159746 CA060315 rs757179911 |
416 | A>T | Multiple endocrine neoplasia, type 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_065155 | 418 | L>R | MEN1 [UniProt] | Yes | UniProt |
| VAR_039635 | 419 | L>P | MEN1 [UniProt] | Yes | UniProt |
|
RCV000491295 rs1060499974 RCV000486722 RCV000456454 CA16613380 |
420 | R>* | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1446518998 RCV003148811 CA381180568 VAR_039636 RCV000632109 |
420 | R>P | Multiple endocrine neoplasia, type 1 MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV003162804 RCV000632082 CA381180571 rs1446518998 |
420 | R>Q | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000491544 rs1114167542 |
421 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1592637081 RCV000821590 |
423 | D>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381180506 RCV000819849 rs2071313 |
423 | D>E | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001044491 CA009091 RCV000182455 VAR_039637 rs104894264 |
423 | D>H | Multiple endocrine neoplasia, type 1 MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM22647 CA009084 VAR_005461 RCV001269702 RCV000018183 RCV000490854 rs104894264 |
423 | D>N | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome parathyroid MEN1 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000491697 CA381180517 rs104894264 |
423 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_005462 | 423 | D>del | MEN1 [UniProt] | Yes | UniProt |
| VAR_005463 | 423 | D>del | MEN1 [UniProt] | Yes | UniProt |
|
rs1941615895 RCV001036366 |
424 | G>V | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381180479 RCV000491726 rs1114167526 |
425 | I>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167539 RCV000491198 CA381180473 |
425 | I>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000182419 rs386134249 CA009105 VAR_039638 RCV000491986 RCV000030196 |
426 | C>Y | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA381180410 RCV000756334 rs1114167533 RCV000491108 |
428 | W>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002377015 COSM4135692 CA381180426 rs1555164270 RCV000547991 |
428 | W>R | Multiple endocrine neoplasia, type 1 pancreas Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
| VAR_039639 | 428 | W>S | MEN1 [UniProt] | Yes | UniProt |
|
RCV000491667 rs1114167477 CA381180398 |
429 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381180402 rs1114167477 RCV000491730 RCV001344440 |
429 | E>K | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491702 CA381180331 rs1114167528 VAR_039640 RCV001002226 |
432 | S>R | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA381180344 rs1555164245 RCV000527282 RCV002377016 |
432 | S>R | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555164218 RCV000662920 |
437 | L>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001812213 rs540012 RCV001082521 |
438 | H>= | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1941611706 RCV001037159 |
438 | H>Y | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001235388 CA060379 RCV003166453 rs767854775 |
439 | V>M | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000018167 RCV000518947 CA009122 rs104894260 |
441 | W>* | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000318762 rs398124435 CA009127 RCV000790656 VAR_039641 RCV000491855 |
441 | W>C | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000255755 VAR_005464 RCV000018166 rs104894259 CA223912292 RCV000491105 RCV001390119 CA009116 |
441 | W>R | Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1 MEN1; no effect on histone methylation; almost no effect on JUND-binding; modest repression of JUND transactivation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1555164188 CA381180212 RCV001344201 RCV000563093 |
442 | A>V | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000806153 rs1555164184 RCV000662929 |
443 | T>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1941607846 RCV001204903 |
444 | F>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000812559 CA009136 rs794728654 COSM23020 RCV000182456 |
447 | Q>* | Multiple endocrine neoplasia, type 1 pancreas parathyroid [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000491801 rs1114167520 |
448 | S>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16613613 rs1060499981 RCV000467767 |
448 | S>Y | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_039642 | 449 | L>P | MEN1 [UniProt] | Yes | UniProt |
|
RCV000705923 rs1565640081 |
450 | G>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381180110 RCV000632092 rs1555164153 |
450 | G>C | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1592636375 CA381180096 RCV000803684 |
451 | R>C | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381180095 RCV000632094 rs1555164143 |
451 | R>H | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000710034 CA381180061 rs1325598637 RCV001868321 RCV001759431 |
452 | F>L | Multiple endocrine neoplasia, type 1 Familial isolated hyperparathyroidism [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_005465 RCV001238238 rs1941604532 |
452 | F>S | Multiple endocrine neoplasia, type 1 MEN1; sporadic; with Zollinger-Ellison syndrome [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs1941603016 RCV001239413 |
454 | G>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492006 CA381180022 rs1114167509 |
455 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381180010 RCV001011030 RCV001350334 RCV002236080 rs1592636161 |
455 | Q>H | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001377802 CA381179936 rs775922507 RCV000571203 |
457 | R>P | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA060528 RCV000698881 RCV002386229 COSM1127690 rs775922507 |
457 | R>Q | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000491768 RCV000200502 rs863224810 CA339343 |
457 | R>W | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000230771 RCV001589199 CA10582929 rs878855189 |
460 | V>E | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001246568 rs1941570102 |
460 | V>M | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA060546 rs765306552 RCV001051925 RCV002379553 |
461 | R>C | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs372468697 RCV000632093 RCV002385985 CA060552 |
461 | R>H | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001034908 rs1277747983 |
462 | I>R | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555163883 RCV000524622 |
464 | S>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381179819 rs1565638856 RCV000679249 RCV001011233 |
464 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000018172 COSM22666 RCV000182421 rs104894267 CA009155 RCV000129526 |
465 | R>* | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome parathyroid [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
rs200035619 CA16613450 RCV003168722 RCV000456169 |
465 | R>P | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA009162 RCV000034783 rs200035619 RCV000793682 |
465 | R>Q | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001315782 rs1941566282 |
466 | E>Q | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1941565557 RCV001062954 |
467 | A>P | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381179724 RCV000555201 rs1555163863 |
468 | E>D | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001222478 CA381179742 rs748102589 RCV002393540 |
468 | E>K | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001011215 rs748102589 CA060588 RCV001049805 |
468 | E>Q | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555163821 RCV000632137 |
469 | A>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167531 RCV000632114 RCV000491754 |
469 | A>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167500 RCV000492019 |
469 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001810944 RCV002393072 RCV000459240 CA060593 rs778728934 |
469 | A>V | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1592633626 RCV000816146 |
469 | A>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064792907 RCV000467609 |
470 | A>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs990566024 RCV002395301 CA223912056 RCV000543695 RCV001764533 |
471 | E>D | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167497 RCV000491124 CA381179679 RCV001222306 |
471 | E>K | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA381179668 rs1352053477 RCV001811030 RCV000531071 RCV002395300 |
471 | E>V | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1592633463 RCV000813744 RCV002390646 |
472 | A>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000476178 rs779589005 CA060627 RCV002393071 |
472 | A>T | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1471493357 CA381179632 RCV001039197 |
473 | E>K | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000476906 rs1555163780 |
474 | E>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1565638407 RCV002388350 RCV000709157 CA381179587 |
474 | E>A | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002393320 CA381179596 RCV001066383 rs1182898331 |
474 | E>Q | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000544503 RCV002395302 rs1033303123 |
475 | P>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001069437 rs1941557896 |
475 | P>A | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001105233 RCV000167949 rs750112288 RCV000569038 RCV000602813 CA009169 |
475 | P>L | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Hyperparathyroidism [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000474300 CA16613444 rs1060499991 COSM23159 |
476 | W>* | Multiple endocrine neoplasia, type 1 central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002393488 rs1941556077 RCV001213347 |
476 | W>* | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_065156 | 476 | W>C | MEN1 [UniProt] | Yes | UniProt |
|
rs1060499991 RCV001237059 |
476 | W>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491271 rs1114167536 RCV000532169 |
477 | G>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1941555781 RCV001105232 RCV001105231 |
477 | G>R | Multiple endocrine neoplasia, type 1 Hyperparathyroidism [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1592633378 RCV000821759 |
479 | E>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002388478 rs1290740194 RCV000801117 |
480 | A>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001303949 rs753185026 CA060653 |
481 | R>Q | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001316115 rs1941554063 |
481 | R>W | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863224526 CA337615 RCV000198067 RCV000254822 RCV000490934 |
482 | E>* | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863224811 RCV000197288 CA337096 |
482 | E>D | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863224526 RCV000632101 CA381179374 |
482 | E>Q | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1941551993 RCV001312941 |
483 | G>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555163716 CA381179331 RCV000544433 |
484 | R>P | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1941551498 RCV001214980 |
484 | R>W | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001216756 rs1941550964 |
485 | R>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002395671 CA381179321 rs1450318836 RCV001313840 |
485 | R>Q | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001038051 rs1941548759 |
488 | P>L | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1565638021 RCV001316900 CA381179267 |
488 | P>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1941548479 RCV001223765 RCV003163744 |
489 | R>W | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381179244 RCV002395303 RCV000556700 rs1254459338 |
490 | R>W | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001049884 rs1941546652 |
492 | S>F | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381179189 rs1057427859 RCV000537416 |
492 | S>P | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000255320 rs886039420 RCV000490970 |
493 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1941546101 RCV001239842 |
493 | K>Q | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1941545858 RCV001054918 RCV002393273 |
493 | K>R | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587778440 CA009174 RCV000695300 RCV002390271 RCV000121335 |
494 | P>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587778440 RCV001225532 |
494 | P>T | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632141 rs1555163646 |
496 | E>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1025851127 RCV002393324 CA223912009 RCV001067347 |
497 | P>L | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs766604600 CA060672 RCV000525912 RCV001011715 |
498 | P>L | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002393728 rs1941543089 RCV001307209 |
498 | P>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16613663 RCV000469797 rs1060499993 RCV002393073 |
499 | P>L | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001237294 rs1941540571 |
502 | K>R | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA060692 RCV002388425 RCV000794008 rs771842369 |
503 | P>A | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA060705 rs774296730 RCV000566191 RCV000458972 |
507 | K>N | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000491148 rs1114167476 |
508 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001105230 COSM1188290 RCV001705900 RCV000491076 CA009181 RCV000616587 RCV001000155 rs375804228 |
508 | G>D | lung Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Hyperparathyroidism [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1555163591 RCV001851142 RCV000485290 |
509 | L>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1390530663 RCV001039930 |
509 | L>V | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002388259 CA381178722 RCV000694715 rs1347992299 |
511 | T>I | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001011879 RCV000476839 rs1060499994 RCV001284274 CA16613440 |
511 | T>P | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA381178712 RCV000533671 rs1423874145 |
512 | G>C | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002391105 CA381178716 rs1423874145 RCV001038797 |
512 | G>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA381178705 rs1418227122 RCV001011964 |
512 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001197197 rs386833403 |
513 | Q>* | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000455940 RCV000464409 RCV000575663 rs386833403 CA060724 |
513 | Q>K | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001342594 rs769355346 CA060734 |
514 | G>D | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001225651 rs1941533809 |
514 | G>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632099 CA381178671 rs769355346 |
514 | G>V | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1114167522 RCV000491440 |
515 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1941529928 RCV001233728 |
516 | V>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381178650 rs1592631976 RCV001012040 |
516 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs794728659 RCV001382418 RCV000491410 RCV000182462 |
517 | S>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1941531859 RCV001215902 |
517 | S>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381178616 RCV000550819 CA381178620 rs141679530 |
517 | S>* | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000276552 RCV001558467 CA009193 rs141679530 RCV000168243 RCV000561706 RCV001818404 |
517 | S>L | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Hyperparathyroidism [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002404383 rs753022747 CA381178580 RCV000540194 |
519 | P>L | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs753022747 RCV000233918 RCV000561798 CA060761 |
519 | P>R | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000687699 RCV002397376 rs150202288 CA060754 |
519 | P>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA060747 RCV000232118 rs150202288 RCV002401910 |
519 | P>T | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001306264 rs1941528728 |
520 | P>R | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA060765 rs779466487 RCV000709156 |
520 | P>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001011983 RCV001860686 rs1592631908 |
521 | R>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000018171 RCV000548407 rs767319284 RCV000182439 RCV000269197 RCV000228926 RCV001012050 RCV000491230 |
521 | R>missing | Multiple endocrine neoplasia, type 1 Lung carcinoid tumor Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002397421 rs763160290 RCV000695921 CA060769 |
521 | R>G | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000807352 rs1565637104 CA381178556 |
521 | R>Q | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000708705 RCV001321256 CA060773 rs763160290 |
521 | R>W | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001174576 rs761695866 RCV000182442 RCV001269942 RCV002399657 |
522 | K>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA009207 RCV000491042 RCV001852315 rs794728630 |
522 | K>* | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000812581 RCV002397677 rs1204943413 CA381178522 |
523 | P>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1427043628 RCV002404831 CA381178496 RCV001350060 |
525 | G>R | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA381178473 RCV000701461 rs1565636898 RCV003165870 |
526 | T>I | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1565636917 RCV001057973 RCV002402418 |
526 | T>P | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1565636898 CA381178475 RCV000814100 |
526 | T>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381178478 rs1565636917 RCV000691457 |
526 | T>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1941522995 RCV001174739 |
527 | V>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001221787 CA381178459 rs1592631462 |
527 | V>A | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060499983 RCV001012142 RCV000462233 CA16613661 |
527 | V>L | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA009213 RCV000168386 RCV002399596 rs760683615 |
528 | A>P | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA060785 RCV002404746 RCV002271541 RCV000632113 rs760683615 |
528 | A>T | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000490847 rs1114167514 RCV001206955 |
530 | T>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000018168 RCV000491431 rs104894261 RCV000515522 CA009219 RCV000182423 |
532 | R>* | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Metastatic pancreatic neuroendocrine tumours [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_039643 | 532 | R>C | MEN1 [UniProt] | Yes | UniProt |
|
RCV000489063 RCV001039164 CA381178349 RCV002404280 rs1085307502 |
532 | R>Q | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA381178330 rs1555163392 RCV000632144 |
533 | G>D | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA381178319 RCV001012293 rs1592631192 |
534 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002544693 RCV000679250 CA381178280 rs1565636654 |
535 | E>A | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886039421 RCV000255871 RCV002518753 |
536 | G>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1941517219 RCV001342991 |
536 | G>D | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000572942 rs587780843 RCV000123383 CA009225 |
537 | G>C | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs762867287 CA060822 RCV001012352 RCV001860704 |
541 | Q>R | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs775422717 CA060831 RCV000814868 RCV002390649 |
542 | V>G | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16606963 rs1057521847 RCV000491562 RCV001374124 RCV000436800 |
542 | V>M | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000231689 RCV000575915 RCV000679251 rs745404679 RCV000735331 RCV001103324 CA009233 VAR_039644 |
545 | P>S | Multiple endocrine neoplasia, type 1 Leukodystrophy Hereditary cancer-predisposing syndrome Hyperparathyroidism MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000034785 rs2959656 RCV000210359 RCV000082334 RCV001084452 |
546 | T>= | Multiple endocrine neoplasia, type 1 Primary hyperparathyroidism [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002227065 RCV000121334 rs2959656 RCV000860147 CA060856 VAR_005466 COSM255213 |
546 | T>A | lung Multiple endocrine neoplasia, type 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001342856 rs1941511781 |
546 | T>E | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2959656 RCV000793172 CA381178066 |
546 | T>P | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001344675 rs1941511257 |
547 | A>V | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381178010 COSM22587 rs1592630661 RCV000796623 |
548 | S>L | Multiple endocrine neoplasia, type 1 NS [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
VAR_039645 CA381178006 RCV001050468 RCV001529168 rs1387157979 |
549 | P>S | Multiple endocrine neoplasia, type 1 MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs1941510179 RCV002402444 RCV001063209 |
550 | P>S | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA009249 rs779413959 RCV002399594 RCV000167886 |
551 | P>L | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000168092 rs774350463 RCV002399595 |
551 | P>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167496 RCV000491916 |
552 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs914488914 RCV001012531 RCV000529882 CA223911789 |
552 | E>G | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001043456 rs1941508162 |
552 | E>K | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492030 rs1555163136 |
553 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001045807 rs1941506496 |
555 | V>G | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002388419 CA060878 rs562257963 CA060885 RCV003166426 RCV001232905 RCV000793423 RCV002307616 |
555 | V>L | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA223911777 rs990141724 RCV001246504 |
556 | L>F | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000542312 CA009272 RCV000491870 rs794728631 RCV000182425 |
559 | Q>* | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1114167510 RCV001258063 RCV000491205 |
560 | S>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_005467 RCV000491766 RCV000199920 CA338972 RCV000507111 rs863224527 |
560 | S>N | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome MEN1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_039647 | 560 | S>R | MEN1 [UniProt] | Yes | UniProt |
|
RCV000491174 rs1114167501 CA381177791 |
561 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000182464 rs794728661 RCV001223385 |
562 | K>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1592630079 RCV000824610 |
562 | K>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167517 RCV000491841 CA381177776 |
562 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1941501683 RCV001065726 |
563 | M>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1565635941 RCV000689715 |
564 | K>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000574893 rs1555163185 CA381177639 |
572 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA060914 RCV001052604 rs751839903 RCV002400303 |
573 | T>I | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs751839903 RCV001342592 |
573 | T>S | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491273 rs1555163115 |
575 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381177591 RCV001212802 rs1257993399 |
578 | S>N | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555163124 RCV000565284 |
581 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1941495030 RCV001229136 |
581 | K>T | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs794728634 RCV001852316 RCV000182428 CA009298 RCV000491331 |
582 | L>P | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002402420 rs1328296968 RCV001058147 CA381177519 |
584 | L>F | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs864622617 RCV000203927 |
585 | T>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1941492703 RCV001212417 |
585 | T>M | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001341529 rs1592629417 |
590 | V>E | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381177441 rs1592629417 RCV000816259 |
590 | V>G | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000546677 rs1555163058 RCV003159747 CA381177410 |
592 | M>I | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000694676 RCV002397414 rs1303070443 |
594 | K>missing | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000697463 CA381177338 rs1411766225 |
598 | S>P | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1941488490 RCV001263014 |
599 | T>A | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA381177318 rs1592629243 RCV001013132 |
599 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001305554 rs1941487702 |
604 | T>A | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555163017 RCV000530307 |
605 | L>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001312354 rs1941486843 |
606 | S>P | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001227670 rs1941486297 |
608 | L>missing | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555163002 RCV001209609 |
610 | R>L | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA009311 rs1555163002 RCV001036536 |
610 | R>Q | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001306174 CA223911679 rs770686655 |
612 | R>C | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632145 rs1186858249 CA381177026 |
614 | G>V | Multiple endocrine neoplasia, type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001312931 rs1941484511 RCV002411998 |
615 | L>F | Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000736005 CA381177005 rs1565635212 |
616 | L>R | Somatotroph adenoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs867123970 CA223917354 |
3 | L>P | No |
ClinGen Ensembl |
|
|
rs966793401 CA381188306 |
6 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
RCV001269824 rs1942027113 |
7 | Q>* | No |
ClinVar dbSNP |
|
|
rs1489754478 CA381188272 |
9 | T>A | No |
ClinGen TOPMed |
|
|
CA381188205 rs1209178117 |
14 | R>S | No |
ClinGen gnomAD |
|
|
RCV000182457 rs794728655 |
19 | V>missing | No |
ClinVar dbSNP |
|
|
rs1277927362 CA381188141 |
19 | V>M | No |
ClinGen gnomAD |
|
|
rs794728636 RCV000182430 |
20 | V>missing | No |
ClinVar dbSNP |
|
|
rs760629445 CA061338 |
21 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA381188109 rs760629445 |
21 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs28931612 CA009589 |
26 | E>* | No |
ClinGen Ensembl |
|
|
RCV000182431 rs794728637 |
27 | L>missing | No |
ClinVar dbSNP |
|
|
CA381188048 rs1006536599 |
27 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA381188032 rs1466941669 |
28 | G>D | No |
ClinGen gnomAD |
|
|
rs771554497 CA381187973 |
34 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA381187931 rs1341908127 |
38 | S>P | No |
ClinGen gnomAD |
|
|
rs1565652770 CA381187918 |
39 | L>* | No |
ClinGen Ensembl |
|
|
CA060278 rs747617261 |
40 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1565652689 CA381187882 RCV000756338 |
42 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000182432 rs794728638 |
50 | V>missing | No |
ClinVar dbSNP |
|
|
CA223917175 rs902475323 |
51 | N>H | No |
ClinGen TOPMed |
|
|
RCV000182458 rs794728656 |
56 | T>missing | No |
ClinVar dbSNP |
|
|
CA381187734 rs1396921906 |
56 | T>A | No |
ClinGen gnomAD |
|
|
rs768445858 CA060951 |
59 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA381187709 rs1174208039 |
60 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
RCV001269516 rs1942006700 |
63 | F>missing | No |
ClinVar dbSNP |
|
|
rs1592659770 CA381187682 |
64 | Q>K | No |
ClinGen Ensembl |
|
|
CA381187674 rs1235900915 |
65 | P>A | No |
ClinGen gnomAD |
|
|
CA381187670 rs1114167484 |
65 | P>L | No |
ClinGen gnomAD |
|
|
rs1235900915 CA381187673 |
65 | P>S | No |
ClinGen gnomAD |
|
|
rs867960556 CA223917165 |
66 | S>I | No |
ClinGen Ensembl |
|
|
rs1057517902 RCV000412904 |
70 | D>missing | No |
ClinVar dbSNP |
|
|
CA381187643 rs1220436193 |
70 | D>A | No |
ClinGen TOPMed |
|
|
rs1220436193 CA381187642 |
70 | D>G | No |
ClinGen TOPMed |
|
|
rs1444602663 CA381187623 |
73 | G>D | No |
ClinGen gnomAD |
|
|
rs1307245127 CA381187627 |
73 | G>S | No |
ClinGen gnomAD |
|
|
rs1592659414 RCV001008756 |
74 | G>missing | No |
ClinVar dbSNP |
|
|
rs1424266863 CA381187619 |
74 | G>D | No |
ClinGen gnomAD |
|
|
CA381187608 rs1592659343 |
76 | T>P | No |
ClinGen Ensembl |
|
|
CA381187602 rs1592659269 |
77 | Y>S | No |
ClinGen Ensembl |
|
|
CA381187588 rs1415414596 |
79 | P>A | No |
ClinGen gnomAD |
|
|
CA381187581 rs1377058781 |
80 | V>M | No |
ClinGen gnomAD |
|
|
rs1174958165 CA381187567 |
82 | D>A | No |
ClinGen gnomAD |
|
|
rs752747097 CA061032 |
83 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1470227348 CA381187558 |
84 | S>P | No |
ClinGen gnomAD |
|
|
rs765390960 CA381187546 |
86 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs765390960 CA061037 |
86 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1440986026 CA381187539 |
87 | A>T | No |
ClinGen gnomAD |
|
|
rs1383507923 CA381187510 |
91 | A>G | No |
ClinGen TOPMed |
|
|
rs771936005 CA061066 |
101 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA061075 rs528298928 |
104 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1592658517 RCV001269978 |
105 | L>missing | No |
ClinVar dbSNP |
|
|
rs1555166435 RCV000657446 |
112 | V>missing | No |
ClinVar dbSNP |
|
|
rs386833404 RCV000034786 CA009376 |
114 | S>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA381187347 rs1189140054 |
118 | V>A | No |
ClinGen gnomAD |
|
|
rs1060499975 CA381187350 |
118 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA381187326 rs1218573619 |
121 | V>A | No |
ClinGen gnomAD |
|
|
rs1244702530 CA381187232 |
134 | F>L | No |
ClinGen gnomAD |
|
|
CA381186825 rs1208267598 |
137 | R>G | No |
ClinGen gnomAD |
|
|
rs376510601 CA223916957 |
140 | I>L | No |
ClinGen Ensembl |
|
|
RCV000481480 rs1064793613 |
144 | F>missing | No |
ClinVar dbSNP |
|
|
CA061144 rs778932605 |
145 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA061151 rs754044830 |
152 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1444210255 CA381186342 |
154 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA381186546 rs1321063499 |
154 | G>R | No |
ClinGen gnomAD |
|
|
rs1410911769 CA381186333 |
155 | T>N | No |
ClinGen gnomAD |
|
|
CA061199 rs773423060 |
155 | T>S | No |
ClinGen ExAC gnomAD |
|
| VAR_065154 | 157 | L>W | parathyroid tumors; somatic [UniProt] | No | UniProt |
|
rs794728648 CA009429 |
161 | G>V | No |
ClinGen Ensembl |
|
|
rs1421808873 CA381186223 |
163 | A>T | No |
ClinGen TOPMed |
|
|
CA381186174 rs1479810784 |
165 | A>G | No |
ClinGen gnomAD |
|
|
rs906113699 CA223915837 |
166 | V>A | No |
ClinGen Ensembl |
|
|
CA381186167 rs1268563474 |
166 | V>L | No |
ClinGen Ensembl |
|
|
rs779453768 CA061213 |
168 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs886041634 RCV000358551 |
169 | A>missing | No |
ClinVar dbSNP |
|
|
CA381186092 rs1565648511 RCV000756335 COSM1659156 |
171 | Q>* | central_nervous_system breast [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA061227 rs200432722 |
172 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA061234 rs780275949 |
175 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA061243 rs143329068 |
176 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555165828 CA009462 |
179 | H>P | No |
ClinGen Ensembl |
|
|
CA381185934 rs1485754663 |
181 | A>V | No |
ClinGen TOPMed |
|
|
CA223915701 rs865919253 |
182 | L>M | No |
ClinGen Ensembl |
|
|
RCV001269676 rs1941862506 |
183 | S>C | No |
ClinVar dbSNP |
|
|
rs1395745940 CA381185870 |
185 | D>E | No |
ClinGen gnomAD |
|
|
rs1158161740 CA381185844 |
187 | A>T | No |
ClinGen gnomAD |
|
|
rs1417432434 CA381185826 |
187 | A>V | No |
ClinGen gnomAD |
|
|
COSM85831 CA009479 rs1555165791 |
188 | W>R | pancreas large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1265797059 CA381185784 |
190 | V>M | No |
ClinGen gnomAD |
|
|
CA381185756 rs1431991249 |
191 | F>I | No |
ClinGen TOPMed |
|
|
CA381185716 rs1209606579 |
193 | P>S | No |
ClinGen gnomAD |
|
|
rs142862945 CA061301 |
197 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1941854974 RCV001092065 |
206 | K>* | No |
ClinVar dbSNP |
|
|
rs756287855 CA061333 |
215 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs781493730 CA381185330 |
219 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_064937 | 220 | V>F | found in a parathyroid carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
RCV001269746 rs1941829518 |
229 | K>* | No |
ClinVar dbSNP |
|
|
rs1555165593 CA009573 |
229 | K>T | No |
ClinGen Ensembl |
|
|
rs1064795635 RCV000482700 |
233 | M>missing | No |
ClinVar dbSNP |
|
|
CA381184667 rs1213933028 |
233 | M>I | No |
ClinGen gnomAD |
|
|
RCV000519935 rs1555165570 CA381184653 |
235 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA223915391 rs868087064 |
245 | V>L | No |
ClinGen gnomAD |
|
|
rs868087064 CA381184496 |
245 | V>M | No |
ClinGen gnomAD |
|
|
CA381184452 rs1165986089 |
247 | A>T | No |
ClinGen gnomAD |
|
|
rs1463364453 CA381184435 |
248 | I>V | No |
ClinGen gnomAD |
|
|
CA381184378 rs1592648939 |
250 | P>H | No |
ClinGen Ensembl |
|
|
rs1413782106 CA381184364 |
251 | S>C | No |
ClinGen TOPMed |
|
|
rs764433361 CA061478 |
253 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1057517760 RCV000412812 |
263 | Q>missing | No |
ClinVar dbSNP |
|
| VAR_039612 | 265 | Q>P | probable disease-associated variant found in isolated hyperparathyroidism [UniProt] | No | UniProt |
| VAR_005450 | 272 | L>P | probable disease-associated variant found in isolated hyperparathyroidism [UniProt] | No | UniProt |
|
CA223914993 rs149783078 |
277 | H>Y | No |
ClinGen ESP |
|
| VAR_039614 | 279 | E>A | parathyroid tumor [UniProt] | No | UniProt |
|
rs1592647257 CA381183876 |
279 | E>G | No |
ClinGen Ensembl |
|
|
rs1475401656 CA381183760 |
283 | M>V | No |
ClinGen gnomAD |
|
| VAR_039617 | 289 | A>P | parathyroid tumor [UniProt] | No | UniProt |
| VAR_082607 | 289 | A>Q | requires 2 nucleotide substitutions; yields insoluble protein [UniProt] | No | UniProt |
|
rs745857419 CA061734 |
296 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1413160325 COSM1257619 CA381183559 |
296 | P>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1592646480 CA381183555 |
297 | T>P | No |
ClinGen Ensembl |
|
|
CA381183547 rs1291262438 |
298 | P>R | No |
ClinGen TOPMed |
|
|
rs1592646309 CA381183508 |
305 | T>P | No |
ClinGen Ensembl |
|
|
CA381183459 rs1592644100 |
310 | G>A | No |
ClinGen Ensembl |
|
| VAR_039618 | 310 | G>D | probable disease-associated variant found in isolated hyperparathyroidism [UniProt] | No | UniProt |
|
rs1278139327 CA381183447 |
312 | A>D | No |
ClinGen gnomAD |
|
|
rs1312277641 CA381183437 |
314 | A>G | No |
ClinGen gnomAD |
|
|
rs746505147 CA061845 |
314 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs794728641 RCV000182438 |
322 | H>missing | No |
ClinVar dbSNP |
|
|
rs1592643735 CA381183371 |
324 | Y>S | No |
ClinGen Ensembl |
|
|
CA381183341 rs1592643620 |
328 | Y>S | No |
ClinGen Ensembl |
|
|
CA061889 rs370840265 |
330 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381183320 rs1259383083 |
332 | Y>H | No |
ClinGen TOPMed |
|
|
CA223914409 rs2071312 |
342 | A>T | No |
ClinGen Ensembl |
|
|
rs1941717384 RCV001269570 |
346 | W>* | No |
ClinVar dbSNP |
|
|
CA059700 rs776561706 |
347 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA381183217 rs1592643086 |
348 | D>A | No |
ClinGen Ensembl |
|
|
CA381183213 rs1592643070 |
349 | T>P | No |
ClinGen Ensembl |
|
|
CA381182983 rs1565642741 |
357 | N>K | No |
ClinGen Ensembl |
|
|
rs904261642 CA223914061 |
359 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA059888 rs774108702 |
361 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs758404089 CA059947 |
372 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192589732 CA381182502 |
377 | I>F | No |
ClinGen gnomAD |
|
|
CA059969 rs755168633 |
379 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs755951745 CA060000 |
386 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1592639993 CA381182168 |
392 | E>G | No |
ClinGen Ensembl |
|
|
CA060051 rs763740854 |
393 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs566593066 CA060060 |
394 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381182060 rs1592639784 |
397 | E>G | No |
ClinGen Ensembl |
|
|
CA060109 rs772588551 |
397 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1396452284 CA381182014 |
399 | S>R | No |
ClinGen gnomAD |
|
|
RCV001269859 rs1941661404 |
400 | Q>* | No |
ClinVar dbSNP |
|
|
CA10588529 rs886039418 RCV000254812 |
403 | Q>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1334290717 CA381180786 |
404 | S>N | No |
ClinGen gnomAD |
|
|
CA381180771 rs878855186 |
406 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA381180767 rs1175968487 |
407 | S>A | No |
ClinGen TOPMed |
|
|
CA381180723 rs1592637496 |
411 | D>A | No |
ClinGen Ensembl |
|
|
RCV000153487 rs727504013 CA009080 |
419 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1555164305 RCV000657442 |
422 | Y>missing | No |
ClinVar dbSNP |
|
|
rs1941613848 RCV001269626 |
430 | E>* | No |
ClinVar dbSNP |
|
|
rs757803925 CA060347 |
434 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs540012 CA381180246 CA381180243 |
438 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381180225 rs1324239308 |
440 | G>D | No |
ClinGen gnomAD |
|
|
rs774800736 CA060389 COSM23021 |
448 | S>P | parathyroid [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1389795947 CA381180107 |
450 | G>D | No |
ClinGen gnomAD |
|
|
rs886041746 RCV000350439 |
451 | R>missing | No |
ClinVar dbSNP |
|
|
RCV000182440 rs794728643 |
452 | F>missing | No |
ClinVar dbSNP |
|
|
CA060395 rs764685104 |
452 | F>L | No |
ClinGen ExAC |
|
|
CA381180052 rs1403979771 |
453 | E>A | No |
ClinGen gnomAD |
|
|
rs371339952 CA060409 |
453 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA060518 rs763514855 |
456 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA381179920 rs1592634503 |
458 | Q>R | No |
ClinGen Ensembl |
|
|
rs878855189 CA381179880 |
460 | V>G | No |
ClinGen gnomAD |
|
|
CA381179857 rs1277747983 |
462 | I>T | No |
ClinGen gnomAD |
|
|
rs1021589871 CA223912118 |
462 | I>V | No |
ClinGen Ensembl |
|
|
CA060556 rs776950365 |
463 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1064796889 CA16619358 RCV000486244 |
465 | R>T* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA381179751 rs1441976126 |
467 | A>V | No |
ClinGen gnomAD |
|
|
rs1555163858 RCV000507696 |
469 | A>missing | No |
ClinVar dbSNP |
|
|
RCV001269520 rs1941550135 |
470 | A>missing | No |
ClinVar dbSNP |
|
|
rs1174189283 CA381179685 |
470 | A>V | No |
ClinGen gnomAD |
|
|
CA381179672 rs1352053477 |
471 | E>A | No |
ClinGen TOPMed |
|
|
CA381179482 rs1312374123 |
478 | E>K | No |
ClinGen gnomAD |
|
|
rs758707117 CA060648 |
479 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs886041214 RCV000363690 |
482 | E>missing | No |
ClinVar dbSNP |
|
|
CA381179327 rs1301120298 |
485 | R>W | No |
ClinGen gnomAD |
|
|
CA381179252 rs1455443205 |
489 | R>Q | No |
ClinGen gnomAD |
|
|
rs896811239 CA223912028 |
491 | E>G | No |
ClinGen Ensembl |
|
|
CA223912027 rs1057427859 |
492 | S>A | No |
ClinGen gnomAD |
|
|
rs1411575404 CA381179132 |
494 | P>L | No |
ClinGen gnomAD |
|
|
CA060667 rs753942853 |
496 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA223912005 rs898745144 |
500 | P>S | No |
ClinGen Ensembl |
|
|
RCV000756337 rs1565637724 |
501 | K>missing | No |
ClinVar dbSNP |
|
|
rs1270463727 CA381178971 |
501 | K>R | No |
ClinGen gnomAD |
|
|
CA381178898 rs771842369 |
503 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761517398 CA060698 |
504 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA381178819 rs1380068655 |
506 | D>N | No |
ClinGen gnomAD |
|
|
CA381178764 rs375804228 |
508 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381178736 rs1320934898 |
510 | G>D | No |
ClinGen gnomAD |
|
|
CA381178710 rs1418227122 |
512 | G>D | No |
ClinGen gnomAD |
|
|
rs386833403 RCV000034784 CA009186 |
513 | Q>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA381178665 rs1248279049 |
515 | A>T | No |
ClinGen gnomAD |
|
|
rs1356056436 CA381178653 |
515 | A>V | No |
ClinGen TOPMed |
|
|
RCV001269693 rs1941526116 |
522 | K>missing | No |
ClinVar dbSNP |
|
|
RCV001269875 rs1941527353 |
522 | K>missing | No |
ClinVar dbSNP |
|
|
rs1164774071 CA381178507 |
524 | P>A | No |
ClinGen Ensembl |
|
|
rs1565636817 CA381178435 |
529 | G>S | No |
ClinGen Ensembl |
|
|
rs71581760 CA223911910 |
530 | T>A | No |
ClinGen Ensembl |
|
|
CA060792 rs750591216 |
530 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA381178392 rs1295193195 |
531 | A>T | No |
ClinGen gnomAD |
|
|
CA060803 rs762145604 |
535 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1592631128 CA381178253 |
536 | G>R | No |
ClinGen Ensembl |
|
|
rs587780843 CA381178231 |
537 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381178184 rs1192690654 |
539 | T>M | No |
ClinGen gnomAD |
|
|
RCV000598960 rs794728660 |
540 | A>missing | No |
ClinVar dbSNP |
|
|
CA381178134 rs1057521847 |
542 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1203039758 CA381178120 |
543 | P>A | No |
ClinGen gnomAD |
|
|
rs1203039758 CA381178118 |
543 | P>S | No |
ClinGen gnomAD |
|
|
CA223911864 rs954331570 |
544 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
RCV000182463 rs794728660 |
545 | P>missing | No |
ClinVar dbSNP |
|
|
CA060850 rs780844361 |
545 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA060837 rs745404679 |
545 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746712509 CA060861 |
546 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1592630610 CA381177973 |
550 | P>L | No |
ClinGen Ensembl |
|
|
CA060867 rs779413959 |
551 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA381177898 rs1339789101 |
554 | P>L | No |
ClinGen TOPMed |
|
|
rs794728645 RCV000182443 |
556 | L>missing | No |
ClinVar dbSNP |
|
|
rs878886267 CA223911769 |
557 | T>I | No |
ClinGen Ensembl |
|
|
VAR_039646 CA009261 COSM23025 RCV000018178 rs121913035 |
557 | T>S | adrenal_gland large_intestine adrenal adenoma; somatic [Cosmic, UniProt] | No |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1299138529 CA381177826 |
558 | F>L | No |
ClinGen TOPMed |
|
|
RCV000082335 rs398124436 |
568 | E>missing | No |
ClinVar dbSNP |
|
|
RCV000182426 rs794728632 CA009282 |
568 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1251646520 CA381177662 |
570 | L>M | No |
ClinGen gnomAD |
|
|
CA381177641 rs1592629891 |
571 | V>G | No |
ClinGen Ensembl |
|
|
rs1592629850 CA381177636 |
572 | A>G | No |
ClinGen Ensembl |
|
|
RCV000182444 rs794728646 |
575 | I>M | No |
ClinVar dbSNP |
|
|
CA009291 rs1555163128 |
580 | I>N | No |
ClinGen Ensembl |
|
|
rs483352685 CA009305 RCV000087162 |
588 | S>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA381177364 rs1470506250 |
595 | Q>H | No |
ClinGen gnomAD |
2 associated diseases with O00255
[MIM: 131100]: Familial multiple endocrine neoplasia type I (MEN1)
Autosomal dominant disorder characterized by tumors of the parathyroid glands, gastro-intestinal endocrine tissue, the anterior pituitary and other tissues. Cutaneous lesions and nervous-tissue tumors can exist. Prognosis in MEN1 patients is related to hormonal hypersecretion by tumors, such as hypergastrinemia causing severe peptic ulcer disease (Zollinger-Ellison syndrome, ZES), primary hyperparathyroidism, and acute forms of hyperinsulinemia. {ECO:0000269|PubMed:10090472, ECO:0000269|PubMed:10229909, ECO:0000269|PubMed:10534569, ECO:0000269|PubMed:10576763, ECO:0000269|PubMed:10617276, ECO:0000269|PubMed:10660339, ECO:0000269|PubMed:10664520, ECO:0000269|PubMed:10849016, ECO:0000269|PubMed:10993647, ECO:0000269|PubMed:11102994, ECO:0000269|PubMed:11134142, ECO:0000269|PubMed:11241849, ECO:0000269|PubMed:12050235, ECO:0000269|PubMed:12112656, ECO:0000269|PubMed:12417605, ECO:0000269|PubMed:12652570, ECO:0000269|PubMed:12699448, ECO:0000269|PubMed:12746426, ECO:0000269|PubMed:12791038, ECO:0000269|PubMed:14686752, ECO:0000269|PubMed:14992727, ECO:0000269|PubMed:15714081, ECO:0000269|PubMed:15730416, ECO:0000269|PubMed:17555499, ECO:0000269|PubMed:22327296, ECO:0000269|PubMed:9103196, ECO:0000269|PubMed:9215689, ECO:0000269|PubMed:9215690, ECO:0000269|PubMed:9463336, ECO:0000269|PubMed:9506756, ECO:0000269|PubMed:9671267, ECO:0000269|PubMed:9683585, ECO:0000269|PubMed:9709921, ECO:0000269|PubMed:9709976, ECO:0000269|PubMed:9709985, ECO:0000269|PubMed:9740255, ECO:0000269|PubMed:9747036, ECO:0000269|PubMed:9820618, ECO:0000269|PubMed:9832038, ECO:0000269|PubMed:9888389, ECO:0000269|PubMed:9989505}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Autosomal dominant disorder characterized by tumors of the parathyroid glands, gastro-intestinal endocrine tissue, the anterior pituitary and other tissues. Cutaneous lesions and nervous-tissue tumors can exist. Prognosis in MEN1 patients is related to hormonal hypersecretion by tumors, such as hypergastrinemia causing severe peptic ulcer disease (Zollinger-Ellison syndrome, ZES), primary hyperparathyroidism, and acute forms of hyperinsulinemia. {ECO:0000269|PubMed:10090472, ECO:0000269|PubMed:10229909, ECO:0000269|PubMed:10534569, ECO:0000269|PubMed:10576763, ECO:0000269|PubMed:10617276, ECO:0000269|PubMed:10660339, ECO:0000269|PubMed:10664520, ECO:0000269|PubMed:10849016, ECO:0000269|PubMed:10993647, ECO:0000269|PubMed:11102994, ECO:0000269|PubMed:11134142, ECO:0000269|PubMed:11241849, ECO:0000269|PubMed:12050235, ECO:0000269|PubMed:12112656, ECO:0000269|PubMed:12417605, ECO:0000269|PubMed:12652570, ECO:0000269|PubMed:12699448, ECO:0000269|PubMed:12746426, ECO:0000269|PubMed:12791038, ECO:0000269|PubMed:14686752, ECO:0000269|PubMed:14992727, ECO:0000269|PubMed:15714081, ECO:0000269|PubMed:15730416, ECO:0000269|PubMed:17555499, ECO:0000269|PubMed:22327296, ECO:0000269|PubMed:9103196, ECO:0000269|PubMed:9215689, ECO:0000269|PubMed:9215690, ECO:0000269|PubMed:9463336, ECO:0000269|PubMed:9506756, ECO:0000269|PubMed:9671267, ECO:0000269|PubMed:9683585, ECO:0000269|PubMed:9709921, ECO:0000269|PubMed:9709976, ECO:0000269|PubMed:9709985, ECO:0000269|PubMed:9740255, ECO:0000269|PubMed:9747036, ECO:0000269|PubMed:9820618, ECO:0000269|PubMed:9832038, ECO:0000269|PubMed:9888389, ECO:0000269|PubMed:9989505}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for O00255
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O00255 | |||
14 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| chromosome, telomeric region | The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). |
| cleavage furrow | The cleavage furrow is a plasma membrane invagination at the cell division site. The cleavage furrow begins as a shallow groove and eventually deepens to divide the cytoplasm. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum lumen | The volume enclosed by the membranes of the endoplasmic reticulum. |
| histone methyltransferase complex | A multimeric complex that is able to catalyze the addition of methyl groups to histone proteins. |
| MLL1 complex | A protein complex that can methylate lysine-4 of histone H3. MLL1/MLL is the catalytic methyltransferase subunit, and the complex also contains the core components ASH2L, HCFC1/HCF1 WDR5 and RBBP5. |
| MLL1/2 complex | A protein complex that can methylate lysine-4 of histone H3, and which contains either of the protein subunits MLL1 or MLL2 in human, or equivalent in other species. |
| nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| transcription repressor complex | A protein complex that possesses activity that prevents or downregulates transcription. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| double-stranded DNA binding | Binding to double-stranded DNA. |
| four-way junction DNA binding | Binding to a DNA segment containing four-way junctions, also known as Holliday junctions, a structure where two DNA double strands are held together by reciprocal exchange of two of the four strands, one strand each from the two original helices. |
| phosphoprotein binding | Binding to a phosphorylated protein. |
| protein N-terminus binding | Binding to a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| protein-macromolecule adaptor activity | The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid. |
| R-SMAD binding | Binding to a receptor-regulated SMAD signaling protein. |
| transcription cis-regulatory region binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. |
| Y-form DNA binding | Binding to a DNA segment shaped like a Y. This shape occurs when DNA contains a region of paired double-stranded DNA on one end and a region of unpaired DNA strands on the opposite end. |
34 GO annotations of biological process
| Name | Definition |
|---|---|
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| cellular response to glucose stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. |
| cellular response to peptide hormone stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. |
| chromatin organization | The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA. |
| decidualization | The cellular and vascular changes occurring in the endometrium of the pregnant uterus just after the onset of blastocyst implantation. This process involves the proliferation and differentiation of the fibroblast-like endometrial stromal cells into large, polyploid decidual cells that eventually form the maternal component of the placenta. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| histone H3-K4 methylation | The modification of histone H3 by addition of one or more methyl groups to lysine at position 4 of the histone. |
| MAPK cascade | An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
| mitotic cell cycle | Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. |
| negative regulation of cell cycle | Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle. |
| negative regulation of cell cycle G1/S phase transition | Any signalling pathway that decreases or inhibits the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the cell cycle. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of cell-substrate adhesion | Any process that decreases the frequency, rate or extent of cell-substrate adhesion. Cell-substrate adhesion is the attachment of a cell to the underlying substrate via adhesion molecules. |
| negative regulation of cyclin-dependent protein serine/threonine kinase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of cyclin-dependent protein serine/threonine kinase activity. |
| negative regulation of DNA-binding transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| negative regulation of epithelial cell proliferation | Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation. |
| negative regulation of JNK cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the JNK cascade. |
| negative regulation of osteoblast differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of osteoblast differentiation. |
| negative regulation of protein phosphorylation | Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein. |
| negative regulation of telomerase activity | Any process that stops or reduces the activity of the enzyme telomerase, which catalyzes of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1). |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| osteoblast development | The process whose specific outcome is the progression of an osteoblast over time, from its formation to the mature structure. Osteoblast development does not include the steps involved in committing a cranial neural crest cell or an osteoprogenitor cell to an osteoblast fate. An osteoblast is a cell that gives rise to bone. |
| positive regulation of protein binding | Any process that activates or increases the frequency, rate or extent of protein binding. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| positive regulation of transforming growth factor beta receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of TGF-beta receptor signaling pathway activity. |
| regulation of activin receptor signaling pathway | Any process that modulates the frequency, rate or extent of the activity of any activin receptor signaling pathway. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| regulation of type B pancreatic cell proliferation | Any process that modulates the frequency, rate or extent of type B pancreatic cell proliferation. |
| response to gamma radiation | 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 a gamma radiation stimulus. Gamma radiation is a form of electromagnetic radiation (EMR) or light emission of a specific frequency produced from sub-atomic particle interaction, such as electron-positron annihilation and radioactive decay. Gamma rays are generally characterized as EMR having the highest frequency and energy, and also the shortest wavelength, within the electromagnetic radiation spectrum. |
| response to transforming growth factor beta | 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 a transforming growth factor beta stimulus. |
| response to UV | 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 ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
| type B pancreatic cell differentiation | The process in which relatively unspecialized cells acquire specialized structural and/or functional features of a type B pancreatic cell. A type B pancreatic cell is a cell located towards center of the islets of Langerhans that secretes insulin. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGLKAAQKTL | FPLRSIDDVV | RLFAAELGRE | EPDLVLLSLV | LGFVEHFLAV | NRVIPTNVPE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LTFQPSPAPD | PPGGLTYFPV | ADLSIIAALY | ARFTAQIRGA | VDLSLYPREG | GVSSRELVKK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VSDVIWNSLS | RSYFKDRAHI | QSLFSFITGW | SPVGTKLDSS | GVAFAVVGAC | QALGLRDVHL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ALSEDHAWVV | FGPNGEQTAE | VTWHGKGNED | RRGQTVNAGV | AERSWLYLKG | SYMRCDRKME |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VAFMVCAINP | SIDLHTDSLE | LLQLQQKLLW | LLYDLGHLER | YPMALGNLAD | LEELEPTPGR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PDPLTLYHKG | IASAKTYYRD | EHIYPYMYLA | GYHCRNRNVR | EALQAWADTA | TVIQDYNYCR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EDEEIYKEFF | EVANDVIPNL | LKEAASLLEA | GEERPGEQSQ | GTQSQGSALQ | DPECFAHLLR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FYDGICKWEE | GSPTPVLHVG | WATFLVQSLG | RFEGQVRQKV | RIVSREAEAA | EAEEPWGEEA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| REGRRRGPRR | ESKPEEPPPP | KKPALDKGLG | TGQGAVSGPP | RKPPGTVAGT | ARGPEGGSTA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QVPAPTASPP | PEGPVLTFQS | EKMKGMKELL | VATKINSSAI | KLQLTAQSQV | QMKKQKVSTP |
| 610 | |||||
| SDYTLSFLKR | QRKGL |