Q14654
PR
Gene name |
KCNJ11 |
Protein name |
ATP-sensitive inward rectifier potassium channel 11 |
Names |
IKATP, Inward rectifier K(+) channel Kir6.2, Potassium channel, inwardly rectifying subfamily J member 11 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3767 |
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
9 structures for Q14654
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6C3O | EM | 390 A | A/B/C/D | 1-390 | PDB |
| 6C3P | EM | 560 A | A/B/C/D | 1-390 | PDB |
| 7S5T | EM | 310 A | A/B/C/D | 1-390 | PDB |
| 7S5X | EM | 370 A | A/B/C/D | 1-390 | PDB |
| 7S5Y | EM | 390 A | A/B/C/D | 1-390 | PDB |
| 7S5Z | EM | 390 A | A/B/C/D | 1-390 | PDB |
| 7S60 | EM | 370 A | A/B/C/D | 1-390 | PDB |
| 7S61 | EM | 400 A | A/B/C/D | 1-390 | PDB |
| AF-Q14654-F1 | Predicted | AlphaFoldDB |
393 variants for Q14654
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002226660 RCV000030105 rs193922565 CA214112 |
2 | L>P | Neonatal diabetes mellitus Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587783674 RCV002226805 |
3 | S>F | Type 2 diabetes mellitus [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001277856 RCV002227263 CA5902349 rs543286136 RCV002486030 |
4 | R>C | Maturity onset diabetes mellitus in young Variant assessed as Somatic; 0.0 impact. Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 3 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs587783667 RCV000146105 CA172324 RCV002227073 VAR_008659 |
10 | E>K | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001851756 rs104894236 RCV000009208 RCV002227028 CA254517 |
12 | Y>* | Maturity onset diabetes mellitus in young Hyperinsulinemic hypoglycemia, familial, 2 (hhf2) Hyperinsulinemic hypoglycemia, familial, 2 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000509563 RCV002490861 RCV002226712 RCV002527383 rs770609243 CA5902342 |
16 | R>H | Maturity onset diabetes mellitus in young Diabetes mellitus, transient neonatal, 3 Type 2 diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA119831 RCV001512207 RCV002226643 RCV000146116 RCV001093985 RCV000576501 RCV000009214 RCV000020356 RCV000009215 VAR_008660 RCV000385348 RCV000294608 RCV000281825 rs5219 RCV001105584 |
23 | K>E | Hyperinsulinism, Dominant/Recessive Maturity onset diabetes mellitus in young Exercise stress response, impaired, association with Diabetes mellitus type 2, susceptibility to Diabetes mellitus, transient neonatal, 3 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 2 (hhf2) Transient Neonatal Diabetes, Dominant Type 2 diabetes mellitus Maturity-onset diabetes of the young type 13 Hyperinsulinemic hypoglycemia, familial, 2 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000193401 CA277131 RCV001753595 RCV002226698 rs752507753 RCV000675066 RCV001277854 |
27 | R>C | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000668643 RCV000389894 rs774714794 RCV002227117 RCV001833339 CA5902339 |
27 | R>H | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002227247 CA5902335 rs757621300 RCV001105581 RCV001105582 RCV001105583 RCV001856419 |
31 | R>W | Maturity onset diabetes mellitus in young Diabetes mellitus, transient neonatal, 3 Maturity-onset diabetes of the young type 13 Hyperinsulinemic hypoglycemia, familial, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs954727530 RCV000673558 RCV002225111 CA218400169 RCV001855597 |
34 | R>C | Monogenic diabetes Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_031329 COSM4145594 CA218400168 rs141145502 |
34 | R>H | thyroid HHF2 [Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs193929333 RCV000020345 RCV002226651 VAR_026498 CA341714 |
35 | F>L | Permanent neonatal diabetes mellitus PNDM2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_026499 CA341716 RCV000020346 rs193929333 |
35 | F>V | Permanent neonatal diabetes mellitus PNDM2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_031330 RCV000666416 RCV002227198 rs1001873841 CA218400149 |
40 | G>D | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus HHF2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001851757 VAR_031331 RCV000009211 RCV000170298 rs80356610 RCV000020347 CA119829 RCV002226641 |
42 | C>R | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 3 Maturity-onset diabetes of the young type 13 TNDM3; increased spontaneous open probability; reduced ATP sensitivity; reduced expression at the cell surface of the functional ATP-sensitive form [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_031332 | 46 | H>Y | PNDM2 [UniProt] | Yes | UniProt |
|
RCV002227391 rs80356611 CA379776349 |
50 | R>L | Transitory neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs80356611 RCV001089464 RCV000009205 CA340803 VAR_026500 |
50 | R>P | Diabetes mellitus, permanent neonatal 2 Permanent neonatal diabetes mellitus PNDM2; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA214108 RCV000518206 rs80356611 VAR_031333 RCV002222331 RCV000030103 |
50 | R>Q | Neonatal diabetes mellitus Permanent neonatal diabetes mellitus PNDM2; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002227255 RCV001828735 rs1953591118 RCV001218438 |
51 | E>missing | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinVar dbSNP |
|
rs879253757 CA10584023 RCV000234886 RCV002226700 |
52 | Q>* | Maturity onset diabetes mellitus in young Hyperinsulinemic hypoglycemia, familial, 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs193929337 CA341718 VAR_026501 RCV002227044 RCV000020348 |
52 | Q>R | Transitory neonatal diabetes mellitus Permanent neonatal diabetes mellitus PNDM2; with neurologic features; produces larger current and more change in ATP sensitivity than mutation associated with mild disease C-201 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA119837 rs80356615 VAR_031334 RCV002226645 RCV000020349 RCV000009222 |
53 | G>D | Diabetes mellitus, permanent neonatal 2 Permanent neonatal diabetes mellitus PNDM2; with neurologic features [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000009219 rs80356613 CA340811 VAR_026502 |
53 | G>R | Diabetes mellitus, transient neonatal, 3 TNDM3; reduction in the sensitivity to ATP when compared with wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000009218 RCV002250455 RCV002226644 RCV002250456 rs35513985 |
53 | G>S | Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 3 Type 2 diabetes mellitus [ClinVar] | Yes |
ClinVar dbSNP |
|
rs80356613 RCV000009218 RCV002250455 RCV002226644 RCV002250456 CA340809 VAR_026503 |
53 | G>S | Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 3 Type 2 diabetes mellitus TNDM3; reduction in the sensitivity to ATP when compared with wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs375848765 CA5902330 RCV000516616 RCV002227174 |
54 | R>C | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA271562 RCV000146103 rs587783666 RCV002227072 |
54 | R>H | Hyperinsulinemic hypoglycemia Hyperinsulinemic hypoglycemia, familial, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_031335 CA379776138 rs1343400778 |
55 | F>L | HHF2; does neither affect channel expression nor channel response to MgADP [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
RCV000009204 RCV000020350 RCV002227025 CA119827 VAR_026504 rs80356617 |
59 | V>G | Diabetes mellitus, permanent neonatal 2 Transitory neonatal diabetes mellitus Permanent neonatal diabetes mellitus PNDM2; with neurologic features; produces larger current and more change in ATP sensitivity than mutation associated with mild disease C-201; decreases ATP sensitivity indirectly by favoring the open conformation of the channel [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs80356616 RCV000009201 RCV000724752 RCV002051778 RCV000030665 RCV002227022 RCV000146104 VAR_026505 CA119823 |
59 | V>M | Diabetes mellitus, permanent neonatal 2 Neonatal diabetes mellitus Transitory neonatal diabetes mellitus Permanent neonatal diabetes mellitus PNDM2; with neurologic features [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000023046 CA128966 VAR_073681 RCV002226654 rs387906783 |
60 | F>Y | Diabetes mellitus, permanent neonatal 2 PNDM2; found in a patient who also carries L-64 in cis; thought to be the pathogenic mutation in this double allele; displays gain of function; increases the intrinsic channel open probability and decreases sensitivity toward ATP inhibition; variant L-64 associated in cis is thought to ameliorate the effect of the Y-60 mutation on the channel ATP sensitivity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1057518775 CA379775836 RCV002227172 RCV000500297 RCV002461253 |
62 | T>M | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16043457 RCV000415398 rs1057518775 |
62 | T>R | Atopic eczema [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_073682 CA5902327 rs115716690 |
64 | V>L | PNDM2; found in a patient who also carries Y-60 in cis; unknown pathological significance; only subtle effects, if any, on channel ATP sensitivity; thought to attenuate the deleterious effect of the Y-60 mutation associated in cis on the channel ATP sensitivity [UniProt] | Yes |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5902325 VAR_026506 rs747719667 |
67 | K>N | HHF2 [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
rs1953589834 RCV001169960 RCV002227249 |
80 | L>missing | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002227213 rs1564865688 CA379775148 RCV000712158 |
82 | S>N | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA379774980 rs1554901866 RCV002226728 RCV000669360 |
88 | M>I | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_026507 | 91 | W>R | HHF2 [UniProt] | Yes | UniProt |
|
rs1554901854 RCV002226735 RCV000673817 |
97 | H>missing | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554901851 RCV000667098 RCV002493090 RCV002226724 CA379774702 |
98 | G>S | Maturity onset diabetes mellitus in young Diabetes mellitus, transient neonatal, 3 Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_031336 rs1014454531 CA218400036 RCV002225710 RCV002226725 RCV000667619 |
101 | A>D | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus HHF2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs376773562 CA5902305 RCV001277851 RCV002227261 |
103 | S>R | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_031337 RCV001288658 RCV002227264 rs1953587696 |
116 | S>P | Maturity onset diabetes mellitus in young HHF2 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs1554901829 RCV002226733 RCV000672008 |
122 | L>missing | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinVar dbSNP |
|
CA379774149 RCV000855725 RCV002226743 rs1591695840 |
122 | L>P | Maturity onset diabetes mellitus in young Hyperinsulinemic hypoglycemia, familial, 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002226719 RCV000626154 rs1554901822 |
124 | S>missing | Maturity onset diabetes mellitus in young DEND syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_031338 | 134 | G>A | HHF2 [UniProt] | Yes | UniProt |
|
RCV002481620 rs766891274 CA5902293 RCV002524208 RCV000503978 |
136 | R>C | Diabetes mellitus, transient neonatal, 3 Hyperinsulinemic hypoglycemia, familial, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000674292 rs1479483693 RCV002227205 CA379773972 RCV002532161 |
136 | R>H | Maturity onset diabetes mellitus in young Variant assessed as Somatic; 0.0 impact. Permanent neonatal diabetes mellitus [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA379773968 VAR_031339 rs1479483693 |
136 | R>L | HHF2 [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
RCV000992252 CA379773977 RCV002227237 rs766891274 |
136 | R>S | Type 2 diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs28936678 RCV002227020 CA254515 RCV000009197 VAR_001557 |
147 | L>P | Maturity onset diabetes mellitus in young Hyperinsulinemic hypoglycemia, familial, 2 (hhf2) Hyperinsulinemic hypoglycemia, familial, 2 HHF2 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA5902288 RCV001103640 rs529884745 RCV002227246 RCV001103639 RCV001108793 |
151 | V>M | Diabetes mellitus, transient neonatal, 3 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 2 Maturity-onset diabetes of the young type 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001277850 RCV002514817 CA172326 RCV002227074 RCV000146106 rs587783668 RCV002483282 RCV000665154 |
155 | V>M | Maturity onset diabetes mellitus in young Variant assessed as Somatic; 0.0 impact. Diabetes mellitus Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 3 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
VAR_073683 CA379773518 RCV002243628 RCV000009221 rs1404429785 RCV002243629 |
156 | G>R | Hyperinsulinemic hypoglycemia, familial, 2 (hhf2) Hyperinsulinemic hypoglycemia, familial, 2 HHF2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001329963 rs1953585385 |
158 | M>L | Diabetes mellitus, transient neonatal, 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002226806 rs1953585385 |
158 | M>V | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554901796 RCV002227401 |
164 | L>I | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_031341 | 164 | L>P | PNDM2 [UniProt] | Yes | UniProt |
|
RCV000673375 CA379773220 rs587783669 RCV002226734 |
166 | C>* | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs80356618 RCV000020352 RCV002247280 RCV000009216 CA119833 |
166 | C>F | Diabetes mellitus, permanent neonatal 2 Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA172328 rs587783669 RCV000146107 |
166 | C>W | Diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs80356618 VAR_031342 RCV000020351 CA341720 |
166 | C>Y | Permanent neonatal diabetes mellitus PNDM2; individual also diagnosed with West syndrome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA119835 rs80356620 RCV002227029 RCV000009217 VAR_073684 RCV000020353 |
167 | I>L | Diabetes mellitus, permanent neonatal 2 Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus PNDM2; has severely impaired sensitivity to ATP and markedly increases open channel probability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs80356622 RCV000009207 RCV002227027 CA340807 RCV002051780 RCV001089467 VAR_026508 |
170 | K>N | Diabetes mellitus, permanent neonatal 2 Neonatal diabetes mellitus Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus PNDM2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_026509 RCV002227026 rs80356621 RCV001089466 RCV000009206 CA340805 |
170 | K>R | Diabetes mellitus, permanent neonatal 2 Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus PNDM2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_031343 | 170 | K>T | PNDM2 [UniProt] | Yes | UniProt |
|
CA10630460 RCV000261156 rs865963367 RCV000304649 RCV000361793 |
175 | H>Q | Diabetes mellitus, transient neonatal, 3 Hyperinsulinemic hypoglycemia, familial, 2 Maturity-onset diabetes of the young type 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002294074 CA205789 COSM3752263 RCV000192751 rs201264306 RCV002517087 |
176 | R>C | large_intestine Maturity-onset diabetes of the young type 13 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002493109 CA379773008 RCV002227202 RCV000671861 rs1266231295 |
176 | R>H | Maturity onset diabetes mellitus in young Diabetes mellitus, transient neonatal, 3 Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002227175 RCV000518433 rs1554901775 |
178 | A>missing | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001336919 RCV002226777 rs1953584002 |
180 | T>N | Maturity onset diabetes mellitus in young Diabetes mellitus, transient neonatal, 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA379772866 RCV000712159 rs1564865434 RCV002227214 |
181 | L>F | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs193929348 CA341722 VAR_026510 RCV000020354 RCV002227045 |
182 | I>V | Transitory neonatal diabetes mellitus Permanent neonatal diabetes mellitus TNDM3; reduction in the sensitivity to ATP when compared with wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000666176 rs1371185696 RCV001868211 RCV002227197 CA379772664 |
187 | A>V | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA5902282 RCV001451232 RCV001280339 RCV002226774 rs77131926 |
190 | A>T | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1211517 rs750778014 CA5902279 RCV002271555 RCV002493095 RCV000667748 |
192 | R>H | Maturity onset diabetes mellitus in young large_intestine Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 3 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA172338 rs5217 VAR_014929 RCV000883944 RCV001275135 RCV002227075 RCV000146112 RCV000669893 |
195 | R>H | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000310078 rs886042779 RCV002227115 |
195 | R>missing | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002227023 RCV001089465 RCV001851755 CA119825 rs80356625 RCV000146113 VAR_026511 RCV002227024 RCV000009202 RCV002051779 RCV001530196 |
201 | R>C | Diabetes mellitus, permanent neonatal 2 Neonatal diabetes mellitus Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Diabetes mellitus Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 3 PNDM2; with neurologic features; produces smaller current and less change in ATP sensitivity than mutations associated with severe disease R-52 and G-59 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002227021 RCV000712160 RCV000146114 RCV000009198 RCV000009200 CA119821 rs80356624 VAR_026512 RCV002051777 RCV001089463 |
201 | R>H | Diabetes mellitus, permanent neonatal 2 Neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 3 Permanent neonatal diabetes mellitus PNDM2; ability of ATP to block mutant channels greatly reduced [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA341724 VAR_031344 rs80356624 RCV000020355 |
201 | R>L | Permanent neonatal diabetes mellitus PNDM2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
VAR_073685 CA218399743 rs577757932 |
204 | D>E | HHF2 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000672141 CA379772137 RCV002227203 rs1554901747 |
206 | R>L | Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002227400 CA5902267 rs781450902 |
221 | R>C | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000342066 rs781450902 CA10605309 RCV002519199 |
221 | R>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002493114 COSM181981 RCV002532135 RCV000672836 rs768909861 CA5902266 RCV001868266 RCV002227204 |
221 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine Diabetes mellitus, transient neonatal, 3 Permanent neonatal diabetes mellitus Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000146115 COSM181980 RCV001329964 rs587783672 RCV000170299 CA172340 VAR_073686 RCV002227076 RCV001288659 RCV002051813 |
227 | E>K | Neonatal diabetes mellitus Maturity onset diabetes mellitus in young Variant assessed as Somatic; 0.0 impact. Diabetes mellitus large_intestine Diabetes mellitus, transient neonatal, 3 Maturity-onset diabetes of the young type 13 MODY13 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
CA172342 RCV000146117 rs587783673 RCV002226687 |
229 | E>K | Diabetes mellitus Type 2 diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000754813 rs1564865302 CA379771407 |
233 | L>F | Maturity-onset diabetes of the young type 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1564865302 RCV002227394 |
233 | L>I | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554901718 RCV000778315 RCV002226731 RCV000671436 |
240 | M>missing | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus KCNJ11-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10604719 RCV002227116 RCV000338917 rs886042818 |
240 | M>R | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002227046 RCV000020357 CA341726 rs193929352 |
252 | V>A | Transitory neonatal diabetes mellitus Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002512937 RCV002226640 VAR_026513 CA254520 RCV000009210 rs104894237 |
254 | P>L | Maturity onset diabetes mellitus in young Hyperinsulinemic hypoglycemia, familial, 2 (hhf2) Hyperinsulinemic hypoglycemia, familial, 2 HHF2; impairs trafficking of the mutant channel [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV002226727 rs1554901690 RCV000668386 |
258 | Y>missing | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinVar dbSNP |
|
CA379770847 rs1564865232 RCV002226738 RCV001825420 RCV000712161 |
258 | Y>* | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_031345 CA254522 RCV000992253 RCV002247279 RCV000009213 rs104894248 RCV002226642 |
259 | H>R | Maturity onset diabetes mellitus in young Hyperinsulinemic hypoglycemia, familial, 2 (hhf2) Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 2 HHF2; impairs trafficking and abolishes channel function [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1437510576 CA379770671 RCV000664133 RCV002226721 |
265 | S>I | Monogenic diabetes [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA379770647 RCV000673987 rs1554901679 VAR_031346 RCV002226736 |
266 | P>L | Maturity onset diabetes mellitus in young Variant assessed as Somatic; impact. Permanent neonatal diabetes mellitus HHF2 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001329965 rs1953576929 |
268 | Y>F | Diabetes mellitus, transient neonatal, 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001516639 RCV000146119 RCV001275132 CA172346 RCV000445429 RCV000323784 VAR_008661 rs1800467 RCV001533236 RCV002226426 RCV000372639 RCV000576834 |
270 | L>V | Diabetes mellitus, permanent neonatal 2 Maturity onset diabetes mellitus in young Monogenic diabetes Diabetes mellitus, transient neonatal, 3 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 2 Maturity-onset diabetes of the young type 13 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA238619 RCV002227082 RCV000173151 rs794726888 |
274 | D>G | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000671725 rs1554901658 RCV002226732 |
281 | L>missing | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinVar dbSNP |
|
CA254526 RCV000763231 rs267607196 RCV000009223 VAR_073687 RCV002226646 COSM925463 |
282 | E>K | Maturity onset diabetes mellitus in young Variant assessed as Somatic; 0.0 impact. endometrium Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 2 (hhf2) Hyperinsulinemic hypoglycemia, familial, 2 HHF2; prevents the ER export and surface expression of the channel [ClinVar, NCI-TCGA, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002530727 RCV000667888 rs149667199 CA5902232 RCV002226726 RCV002493096 |
285 | V>I | Maturity onset diabetes mellitus in young Diabetes mellitus, transient neonatal, 3 Permanent neonatal diabetes mellitus Variant assessed as Somatic; 4.619e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000193250 rs797045637 CA277103 RCV002226699 |
289 | G>A | Maturity onset diabetes mellitus in young Hyperinsulinemic hypoglycemia, familial, 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs797045637 CA277326 RCV000194466 COSM1579763 |
289 | G>V | central_nervous_system Hyperinsulinemic hypoglycemia, familial, 2 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs750414160 RCV002227171 RCV000500391 CA5902229 |
290 | V>M | Hyperinsulinemic hypoglycemia, familial, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA379770173 RCV000992254 RCV002227238 RCV001827134 rs1174593640 |
292 | E>K | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001535984 RCV000192330 RCV002227091 RCV002227090 rs780957825 CA276941 RCV000984004 RCV001385879 |
294 | T>M | Maturity onset diabetes mellitus in young Diabetes mellitus, transient neonatal, 3 Hyperinsulinemic hypoglycemia, familial, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA341728 VAR_026514 rs193929353 RCV002247374 RCV000020358 |
296 | I>L | Permanent neonatal diabetes mellitus PNDM2; with neurologic features [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA341730 rs193929353 RCV000020359 |
296 | I>V | Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002226762 rs1953574433 RCV001270679 |
298 | T>missing | Maturity onset diabetes mellitus in young Hyperinsulinemic hypoglycemia, familial, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs377091338 RCV002227218 RCV000795944 CA5902226 |
301 | R>C | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001224980 RCV000009220 RCV002227030 rs74339576 RCV001103551 RCV001103550 RCV000671339 CA254524 VAR_031347 |
301 | R>H | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 3 Hyperinsulinemic hypoglycemia, familial, 2 (hhf2) Hyperinsulinemic hypoglycemia, familial, 2 Maturity-onset diabetes of the young type 13 HHF2 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV001051419 rs74339576 RCV001174375 |
301 | R>P | Monogenic diabetes [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761575495 RCV002493504 CA5902223 RCV001280335 |
302 | T>I | Diabetes mellitus, transient neonatal, 3 Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs761575495 RCV002226803 CA218399442 |
302 | T>N | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002227092 RCV000193534 rs201264306 RCV002478671 |
312 | G>S | Maturity onset diabetes mellitus in young Diabetes mellitus, transient neonatal, 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA207088 RCV002227092 RCV000193534 RCV002478671 rs72554079 |
312 | G>S | Maturity onset diabetes mellitus in young Diabetes mellitus, transient neonatal, 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002226778 CA5902214 rs145935651 RCV002493733 RCV001336920 |
314 | R>H | Maturity onset diabetes mellitus in young Variant assessed as Somatic; 0.0 impact. Diabetes mellitus, transient neonatal, 3 Permanent neonatal diabetes mellitus 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_026515 CA172352 RCV000020360 RCV000146122 RCV002227047 rs193929355 |
322 | E>K | Transitory neonatal diabetes mellitus Diabetes mellitus Permanent neonatal diabetes mellitus PNDM2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000560919 rs1554901596 RCV002226716 |
323 | D>missing | Maturity onset diabetes mellitus in young Type 2 diabetes mellitus [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002227196 RCV000665975 rs1193170151 CA379769588 |
324 | G>R | Permanent neonatal diabetes mellitus Type 2 diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000502356 rs550315112 RCV001573273 CA5902210 RCV000763718 |
325 | R>S | Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000517615 RCV002226714 RCV000766859 rs1554901583 CA379769545 |
327 | S>Y | Maturity onset diabetes mellitus in young [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_026516 rs193929356 RCV002226652 RCV000146124 RCV000020361 CA172356 |
330 | Y>C | Permanent neonatal diabetes mellitus Type 2 diabetes mellitus PNDM2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs587783675 RCV000146123 RCV002226690 CA172354 |
330 | Y>H | Maturity onset diabetes mellitus in young Diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_031348 | 330 | Y>S | PNDM2 [UniProt] | Yes | UniProt |
|
rs193929357 CA341732 RCV002226653 RCV000020362 VAR_026517 |
333 | F>I | Permanent neonatal diabetes mellitus PNDM2; alters gating characteristics; decreases sensitivity to inhibition by ATP and increases intrinsic open probability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs193929358 RCV000020344 CA341712 RCV002227043 |
334 | G>D | Transitory neonatal diabetes mellitus Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA379769440 RCV002226771 RCV001280334 rs1564864998 |
335 | N>K | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000146099 RCV002221500 CA172316 RCV000576497 RCV000357357 RCV000262909 VAR_008662 RCV001533219 rs5215 RCV001275131 RCV001512206 |
337 | V>I | Diabetes mellitus, permanent neonatal 2 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 3 Type 2 diabetes mellitus Maturity-onset diabetes of the young type 13 Hyperinsulinemic hypoglycemia, familial, 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002226722 RCV000664839 CA5902201 RCV000763717 rs138125678 |
339 | V>G | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000330527 RCV000275394 CA5902197 RCV000369920 RCV002227144 rs114215135 |
345 | T>M | Maturity onset diabetes mellitus in young Variant assessed as Somatic; 0.0 impact. Diabetes mellitus, transient neonatal, 3 Maturity-onset diabetes of the young type 13 Hyperinsulinemic hypoglycemia, familial, 2 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000668406 CA5902194 RCV002227200 RCV001174374 RCV001108707 RCV001275130 RCV002532072 RCV003155266 RCV002477492 RCV001108706 COSM925461 RCV000712156 rs771797701 |
347 | R>H | Maturity onset diabetes mellitus in young Variant assessed as Somatic; 0.0 impact. Monogenic diabetes endometrium Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 3 Hyperinsulinemic hypoglycemia, familial, 2 (hhf2) Inborn genetic diseases Maturity-onset diabetes of the young type 13 Hyperinsulinemic hypoglycemia, familial, 2 [ClinVar, NCI-TCGA, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5902193 RCV001174373 rs745379486 RCV002227252 RCV002505753 |
348 | Q>H | Transitory neonatal diabetes mellitus Monogenic diabetes Diabetes mellitus, transient neonatal, 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001108705 RCV002226694 RCV000192814 CA205900 RCV001106526 VAR_008663 rs797045635 RCV001106527 |
355 | L>P | Maturity onset diabetes mellitus in young Diabetes mellitus, transient neonatal, 3 Maturity-onset diabetes of the young type 13 Hyperinsulinemic hypoglycemia, familial, 2 NIDDM; Afro-Caribbean [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs1337406718 RCV000671033 RCV002226730 |
356 | L>missing | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758749160 RCV000665094 RCV000396277 CA5902186 RCV002226703 |
365 | R>C | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002227199 CA5902185 rs750689750 RCV000666586 |
365 | R>H | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM925460 RCV002226770 CA5902181 RCV001280333 rs371275937 |
369 | R>C | Maturity onset diabetes mellitus in young Variant assessed as Somatic; 0.0 impact. endometrium Permanent neonatal diabetes mellitus [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000669653 CA379769234 RCV002226729 rs1233061680 |
371 | R>H | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001431428 rs770375846 RCV002226769 RCV001280332 CA5902175 |
373 | V>M | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA238615 RCV000173149 RCV002227081 rs777540229 |
375 | M>V | Maturity onset diabetes mellitus in young Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002226768 RCV001280331 rs1953567712 |
376 | A>S | Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000195253 RCV002226695 RCV002492879 rs1440128889 RCV000669705 |
380 | P>missing | Maturity onset diabetes mellitus in young Diabetes mellitus, transient neonatal, 3 Permanent neonatal diabetes mellitus [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002226658 rs41282930 RCV000445546 RCV000030102 RCV000146102 RCV000342808 CA172322 RCV000712157 RCV000284629 RCV000395172 VAR_008665 |
385 | S>C | Neonatal diabetes mellitus Maturity onset diabetes mellitus in young Monogenic diabetes Diabetes mellitus, transient neonatal, 3 Maturity-onset diabetes of the young type 13 Hyperinsulinemic hypoglycemia, familial, 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA172350 RCV000146121 rs587783674 |
3 | S>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5902348 rs769283457 COSM925466 |
4 | R>H | endometrium Variant assessed as Somatic; 5.032e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs543286136 RCV000173148 CA238613 |
4 | R>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1388209372 CA379777841 |
6 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA379777848 rs1325935600 |
6 | G>S | No |
ClinGen gnomAD |
|
|
CA379777810 rs1390974211 |
7 | I>S | No |
ClinGen gnomAD |
|
|
RCV000986133 rs587783667 CA379777702 |
10 | E>Q | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs542961309 CA218400290 |
11 | E>K | No |
ClinGen TOPMed |
|
|
CA5902345 rs139079635 |
13 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379777572 rs1200722713 |
15 | T>I | Variant assessed as Somatic; 4.756e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778405781 CA5902343 COSM1507501 |
16 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA172334 rs41309072 VAR_055978 |
18 | A>G | No |
ClinGen UniProt Ensembl dbSNP |
|
| TCGA novel | 18 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1591696371 CA379777446 |
20 | D>A | No |
ClinGen Ensembl |
|
|
rs1393796559 CA379777433 |
21 | P>T | No |
ClinGen TOPMed |
|
|
rs5219 CA379777356 |
23 | K>* | Hyperinsulinemic hypoglycemia, familial, 2 (hhf2) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA379777352 rs5219 |
23 | K>Q | Hyperinsulinemic hypoglycemia, familial, 2 (hhf2) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1331359127 CA379777318 |
24 | P>S | No |
ClinGen gnomAD |
|
|
CA5902338 rs754683593 |
28 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5902337 rs751424820 |
29 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs988002138 CA218400191 |
29 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs571564577 CA379777124 |
31 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5902334 rs571564577 |
31 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA379777039 rs1591696296 |
33 | A>D | No |
ClinGen Ensembl |
|
|
CA379777030 rs954727530 |
34 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs141145502 CA5902333 |
34 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA218400155 rs41314517 |
35 | F>S | No |
ClinGen Ensembl |
|
|
rs1375461209 CA379776892 |
37 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 37 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379776812 rs1564865782 |
40 | G>S | No |
ClinGen Ensembl |
|
|
rs1311750275 CA379776796 |
41 | N>H | No |
ClinGen gnomAD |
|
|
CA5902332 rs534808921 |
42 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 43 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282255458 CA379776641 |
44 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768117265 CA5902331 |
49 | I>M | No |
ClinGen ExAC |
|
|
CA379776370 rs1221366142 |
50 | R>W | No |
ClinGen gnomAD |
|
|
RCV000517720 rs1237212288 CA379776022 |
58 | D>E | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs770553801 CA5902329 |
60 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA379775970 rs387906783 RCV000500789 |
60 | F>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA218400102 rs771238609 |
66 | L>F | No |
ClinGen Ensembl |
|
|
rs1474444717 CA379775624 |
68 | W>G | No |
ClinGen gnomAD |
|
|
CA5902324 rs372565142 |
69 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA218400094 rs749829780 |
70 | H>Q | No |
ClinGen Ensembl |
|
|
CA379775455 rs1211367901 |
71 | T>I | No |
ClinGen gnomAD |
|
|
CA5902323 rs754986446 |
72 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1261731152 CA379775403 |
73 | L>F | No |
ClinGen gnomAD |
|
|
CA5902322 rs746779073 |
74 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1564865697 CA379775391 |
74 | I>V | No |
ClinGen Ensembl |
|
|
rs1591696071 CA379775333 |
76 | T>P | No |
ClinGen Ensembl |
|
|
CA5902321 rs780053755 |
80 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1213486296 CA379775066 |
85 | L>H | No |
ClinGen gnomAD |
|
|
CA5902318 rs764444072 |
87 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs756124560 CA5902317 |
88 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756124560 CA379775003 COSM312194 |
88 | M>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA379774952 rs1381911169 |
90 | W>* | No |
ClinGen gnomAD |
|
|
CA5902314 rs138065534 |
94 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs766658650 CA5902312 |
96 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5902311 rs371886780 |
97 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5902309 rs769538059 |
98 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA379774592 rs1014454531 |
101 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1238425004 CA379774580 |
102 | P>S | No |
ClinGen gnomAD |
|
|
rs200932525 CA218400013 |
103 | S>I | No |
ClinGen TOPMed |
|
|
rs145429555 CA5902303 |
104 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1256842878 CA379774462 |
108 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 108 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1208842043 CA379774423 |
109 | P>L | No |
ClinGen gnomAD |
|
|
CA5902302 rs758228551 |
109 | P>T | No |
ClinGen ExAC gnomAD |
|
|
COSM687067 rs1306643774 CA379774404 |
110 | C>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA218399995 rs867211548 |
111 | V>I | No |
ClinGen Ensembl |
|
|
rs745705365 CA5902301 |
112 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA379774370 rs745705365 |
112 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA5902300 rs778108404 |
113 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs374334444 CA218399984 |
115 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5902299 rs756424776 |
118 | S>L | No |
ClinGen ExAC |
|
|
CA5902296 rs781271888 |
119 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1455888504 CA379774191 |
120 | A>T | No |
ClinGen Ensembl |
|
|
rs1383952155 CA379774145 |
123 | F>L | No |
ClinGen gnomAD |
|
|
rs1160918992 CA379774121 |
125 | I>L | No |
ClinGen gnomAD |
|
|
rs1440836720 CA379774091 |
127 | V>I | No |
ClinGen gnomAD |
|
|
rs889803031 CA218399931 |
131 | I>T | No |
ClinGen Ensembl |
|
|
rs755013629 CA5902295 |
135 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs371977895 CA5902291 |
137 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1267732986 CA379773953 |
138 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 141 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 145 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1490024562 CA379773769 |
145 | A>T | No |
ClinGen gnomAD |
|
|
CA379773731 rs1238684651 |
146 | I>N | No |
ClinGen gnomAD |
|
| VAR_031340 | 148 | I>S | No | UniProt | |
|
rs1564865524 CA379773630 |
150 | I>T | No |
ClinGen Ensembl |
|
|
rs1221835290 CA379773569 |
152 | Q>H | No |
ClinGen gnomAD |
|
|
rs1183844406 CA379773430 |
158 | M>T | No |
ClinGen TOPMed |
|
|
CA218399889 rs889319100 |
159 | I>V | No |
ClinGen TOPMed |
|
|
CA379773339 rs1363707190 |
161 | A>T | No |
ClinGen gnomAD |
|
|
RCV000502477 CA379773262 rs1554901796 |
164 | L>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs775520445 CA5902286 |
165 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA379773161 rs1435239409 |
170 | K>E | No |
ClinGen gnomAD |
|
|
rs1426834688 CA379773118 |
172 | A>D | No |
ClinGen gnomAD |
|
|
RCV002304239 CA379773062 rs587783670 RCV002226804 |
174 | A>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs587783670 CA172330 RCV000146108 |
174 | A>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1165472619 CA379773038 |
175 | H>R | No |
ClinGen TOPMed |
|
|
rs1266231295 CA379772992 |
176 | R>L | No |
ClinGen gnomAD |
|
|
COSM136822 rs745652318 CA5902285 |
178 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA172332 rs587783671 RCV002226686 RCV000146109 |
179 | E>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA379772684 rs1297691175 |
187 | A>T | No |
ClinGen TOPMed |
|
|
rs77131926 CA218399831 |
190 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379772578 rs1223204688 |
190 | A>V | No |
ClinGen gnomAD |
|
|
CA379772567 rs1591695538 |
191 | L>R | No |
ClinGen Ensembl |
|
|
rs780511484 CA5902280 COSM3764295 |
192 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5902278 rs750778014 |
192 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379772513 rs373657240 |
193 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373657240 CA5902277 |
193 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379772516 rs1384915832 |
193 | H>Y | No |
ClinGen gnomAD |
|
|
rs1360165556 CA379772468 |
194 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5902275 rs753491511 |
195 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA379772390 rs1426741332 |
197 | C>Y | No |
ClinGen gnomAD |
|
|
CA379772238 rs1260959968 |
202 | V>A | No |
ClinGen gnomAD |
|
|
rs1591695461 CA379772191 |
204 | D>A | No |
ClinGen Ensembl |
|
|
CA5902273 rs775204908 |
206 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 212 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA218399734 rs1034431608 |
212 | S>N | No |
ClinGen TOPMed |
|
|
CA379771936 rs1202775818 |
213 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1591695425 CA379771915 |
214 | T>P | No |
ClinGen Ensembl |
|
|
CA379771785 rs1321701770 |
217 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs774156815 CA5902270 |
217 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA379771789 rs1321701770 |
217 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5902269 rs371633969 |
219 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379771712 rs371633969 |
219 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 220 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3687202 CA218399706 rs768909861 |
221 | R>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs781450902 CA5902268 |
221 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs747090537 CA5902265 |
222 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561086953 CA218399704 |
223 | T>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA379771626 rs1591695377 |
223 | T>P | No |
ClinGen Ensembl |
|
|
CA379771617 rs561086953 |
223 | T>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA379771607 rs1591695364 |
224 | T>P | No |
ClinGen Ensembl |
|
|
CA218399688 rs147937000 |
228 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA218399677 rs868829210 |
232 | P>L | No |
ClinGen TOPMed |
|
|
rs757593972 CA5902261 |
234 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1262586935 CA379771334 |
236 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA379771352 rs1478839947 |
236 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 237 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368520582 CA5902259 |
240 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1196660793 CA379771235 |
241 | E>* | No |
ClinGen gnomAD |
|
|
rs72554078 CA218399646 |
242 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1249731131 CA379771183 |
243 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA379771162 rs751772105 |
244 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3791382 rs751772105 CA5902257 |
244 | V>M | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs199848733 CA5902256 |
245 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA379771140 rs1591695263 |
245 | G>D | No |
ClinGen Ensembl |
|
|
CA218399632 rs891645007 |
246 | G>S | No |
ClinGen Ensembl |
|
|
rs375200088 CA5902255 |
249 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1210319331 CA379770953 |
253 | A>V | No |
ClinGen TOPMed |
|
|
rs775698456 CA5902249 |
258 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA5902250 rs747180509 |
258 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs992548655 CA218399602 |
260 | V>I | No |
ClinGen TOPMed |
|
|
CA5902247 rs779455025 |
263 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379770656 rs1394505885 |
266 | P>T | No |
ClinGen TOPMed |
|
|
rs756552714 CA5902244 |
269 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5902243 rs1800467 |
270 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379770514 rs1439274815 |
272 | P>S | No |
ClinGen TOPMed |
|
|
rs751068069 CA5902240 |
273 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773218695 COSM221771 CA5902237 |
274 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs773218695 CA5902238 |
274 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218399541 rs113498300 |
276 | H>P | No |
ClinGen Ensembl |
|
|
CA379770445 rs764950479 |
276 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248339289 CA379770307 |
283 | I>N | No |
ClinGen TOPMed |
|
|
rs1478385324 CA379770256 |
286 | I>V | No |
ClinGen TOPMed |
|
|
rs750414160 CA5902230 |
290 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA379770134 rs780957825 |
294 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379770090 rs1591694991 |
298 | T>P | No |
ClinGen Ensembl |
|
|
rs377091338 CA379770021 |
301 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5902225 rs74339576 |
301 | R>L | Hyperinsulinemic hypoglycemia, familial, 2 (hhf2) [Ensembl] | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1591694946 CA379770004 |
302 | T>P | No |
ClinGen Ensembl |
|
|
rs372471215 CA5902221 |
304 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379769955 rs1591694925 |
304 | Y>S | No |
ClinGen Ensembl |
|
|
CA5902220 rs759618669 |
305 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA5902218 rs770875360 |
307 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA379769798 rs1564865066 |
311 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 312 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748516747 CA5902215 |
314 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379769715 rs1428804059 |
315 | F>L | No |
ClinGen gnomAD |
|
|
rs1197405390 CA379769688 |
317 | P>T | No |
ClinGen gnomAD |
|
|
rs369179692 CA5902213 |
318 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 323 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379769593 rs1272384074 CA379769595 |
323 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs550315112 CA5902209 |
325 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5902207 rs778793458 |
325 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5902208 rs778793458 |
325 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323833468 CA379769534 |
328 | V>A | No |
ClinGen gnomAD |
|
|
RCV000712162 CA379769506 rs193929356 |
330 | Y>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs763728797 CA5902204 |
331 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA379769437 rs1591694771 |
336 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 336 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 336 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379769420 rs1430011635 |
338 | K>N | No |
ClinGen gnomAD |
|
|
CA379769409 rs1324969572 |
340 | P>R | No |
ClinGen TOPMed |
|
|
rs1287948530 CA379769397 |
342 | P>L | No |
ClinGen Ensembl |
|
|
CA5902199 rs762355661 |
344 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA379769386 rs762355661 |
344 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5902198 rs114215135 |
345 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 346 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5902195 rs146255794 |
347 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1239672361 CA379769360 |
349 | L>F | No |
ClinGen gnomAD |
|
|
CA218399215 rs761453394 |
349 | L>P | No |
ClinGen gnomAD |
|
|
CA5902192 rs778334034 |
351 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA379769342 rs1242156391 |
352 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756762581 CA5902191 |
353 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA379769334 rs1201445954 |
353 | H>Y | No |
ClinGen gnomAD |
|
|
CA5902190 rs749183151 |
354 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591694594 CA379769308 |
357 | E>V | No |
ClinGen Ensembl |
|
|
rs1246461503 CA379769289 |
360 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1246461503 CA379769288 |
360 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs968323726 CA218399199 |
361 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs755839409 CA5902188 |
362 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5902187 rs375859605 |
363 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5902183 rs149141985 |
366 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5902182 rs138168190 |
367 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs114613745 CA5902179 |
369 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs114613745 CA379769244 |
369 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5902180 rs371275937 |
369 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA218399110 rs1028305815 |
370 | K>R | No |
ClinGen Ensembl |
|
|
CA5902178 rs771613078 |
371 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5902176 CA379769223 rs770375846 |
373 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174490075 CA379769216 |
374 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs748841051 CA5902174 |
374 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA379769211 rs1358608653 |
375 | M>K | No |
ClinGen gnomAD |
|
|
rs1312712454 CA379769190 |
378 | A>S | No |
ClinGen gnomAD |
|
| VAR_008664 | 380 | P>PKP | NIDDM [UniProt] | No | UniProt |
|
CA379769168 rs1374368104 |
381 | K>R | No |
ClinGen gnomAD |
|
|
CA379769161 rs1564864848 |
382 | F>Y | No |
ClinGen Ensembl |
|
|
rs1004469535 CA218399055 |
383 | S>G | No |
ClinGen TOPMed |
|
|
rs141904039 CA379769139 |
384 | I>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs141904039 CA5902172 |
384 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs557050704 CA218399048 |
384 | I>N | No |
ClinGen Ensembl |
|
|
rs141904039 CA5902173 |
384 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs41282930 CA5902170 |
385 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1364226046 CA379769107 |
386 | P>S | No |
ClinGen gnomAD |
|
|
rs764508494 CA5902167 |
387 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs753994346 CA5902168 |
387 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753994346 CA5902169 |
387 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218398996 rs868635389 |
390 | S>F | No |
ClinGen Ensembl |
5 associated diseases with Q14654
[MIM: 601820]: Familial hyperinsulinemic hypoglycemia 2 (HHF2)
Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. {ECO:0000269|PubMed:10204114, ECO:0000269|PubMed:12364426, ECO:0000269|PubMed:15562009, ECO:0000269|PubMed:15579781, ECO:0000269|PubMed:15807877, ECO:0000269|PubMed:15998776, ECO:0000269|PubMed:16332676, ECO:0000269|PubMed:16357843, ECO:0000269|PubMed:18596924, ECO:0000269|PubMed:19357197, ECO:0000269|PubMed:7847376, ECO:0000269|PubMed:8923010}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 618856]: Diabetes mellitus, permanent neonatal, 2 (PNDM2)
A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Some PNDM2 patients may also have developmental delay, muscle weakness, epilepsy and dysmorphic features. PNDM2 transmission pattern is consistent with autosomal dominant inheritance. {ECO:0000269|PubMed:15115830, ECO:0000269|PubMed:15292329, ECO:0000269|PubMed:15448106, ECO:0000269|PubMed:15448107, ECO:0000269|PubMed:15580558, ECO:0000269|PubMed:15583126, ECO:0000269|PubMed:16609879, ECO:0000269|PubMed:16731833, ECO:0000269|PubMed:17213273, ECO:0000269|PubMed:17652641, ECO:0000269|PubMed:17855752, ECO:0000269|PubMed:20022885, ECO:0000269|PubMed:28842488}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 610582]: Transient neonatal diabetes mellitus 3 (TNDM3)
Neonatal diabetes mellitus, defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. In a significant number of patients with transient neonatal diabetes mellitus, diabetes type 2 appears later in life. The onset and severity of TNDM3 is variable with childhood-onset diabetes, gestational diabetes or adult-onset diabetes described. {ECO:0000269|PubMed:15718250, ECO:0000269|PubMed:15784703}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 616329]: Maturity-onset diabetes of the young 13 (MODY13)
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269|PubMed:22701567}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. {ECO:0000269|PubMed:10204114, ECO:0000269|PubMed:12364426, ECO:0000269|PubMed:15562009, ECO:0000269|PubMed:15579781, ECO:0000269|PubMed:15807877, ECO:0000269|PubMed:15998776, ECO:0000269|PubMed:16332676, ECO:0000269|PubMed:16357843, ECO:0000269|PubMed:18596924, ECO:0000269|PubMed:19357197, ECO:0000269|PubMed:7847376, ECO:0000269|PubMed:8923010}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Some PNDM2 patients may also have developmental delay, muscle weakness, epilepsy and dysmorphic features. PNDM2 transmission pattern is consistent with autosomal dominant inheritance. {ECO:0000269|PubMed:15115830, ECO:0000269|PubMed:15292329, ECO:0000269|PubMed:15448106, ECO:0000269|PubMed:15448107, ECO:0000269|PubMed:15580558, ECO:0000269|PubMed:15583126, ECO:0000269|PubMed:16609879, ECO:0000269|PubMed:16731833, ECO:0000269|PubMed:17213273, ECO:0000269|PubMed:17652641, ECO:0000269|PubMed:17855752, ECO:0000269|PubMed:20022885, ECO:0000269|PubMed:28842488}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Neonatal diabetes mellitus, defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. In a significant number of patients with transient neonatal diabetes mellitus, diabetes type 2 appears later in life. The onset and severity of TNDM3 is variable with childhood-onset diabetes, gestational diabetes or adult-onset diabetes described. {ECO:0000269|PubMed:15718250, ECO:0000269|PubMed:15784703}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269|PubMed:22701567}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| inward rectifying potassium channel | A protein complex that comprises four pore-forming (Kir6.x) and four regulatory sulphonylurea receptor (SURx) subunits and forms a transmembrane channel through which ions may pass. The opening and closing of the channel is regulated by ATP: binding of ATP to the Kir6.x subunit inhibits channel activity, whereas binding of Mg2+-complexed ATP or ADP to the SURx subunit stimulates channel activity. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| T-tubule | Invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. The ends of T-tubules make contact with the sarcoplasmic reticulum membrane. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| ankyrin binding | Binding to ankyrin, a 200 kDa cytoskeletal protein that attaches other cytoskeletal proteins to integral membrane proteins. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP-activated inward rectifier potassium channel activity | Enables the transmembrane transfer of a potassium ion by an inwardly-rectifying voltage-gated channel, where the inward rectification is due to a voltage-dependent block of the channel pore by ATP. An inwardly rectifying current-voltage relation is one where at any given driving force the inward flow of K+ ions exceeds the outward flow for the opposite driving force. |
| ATPase-coupled cation transmembrane transporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + cation(out) = ADP + phosphate + cation(in). |
| inward rectifier potassium channel activity | Enables the transmembrane transfer of a potassium ion by an inwardly-rectifying voltage-gated channel. An inwardly rectifying current-voltage relation is one where at any given driving force the inward flow of K+ ions exceeds the outward flow for the opposite driving force. The inward-rectification is due to a voltage-dependent block of the channel pore by a specific ligand or ligands, and as a result the macroscopic conductance depends on the difference between membrane voltage and the K+ equilibrium potential rather than on membrane voltage itself. |
| potassium ion binding | Binding to a potassium ion (K+). |
| transmembrane transporter binding | Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
| voltage-gated potassium channel activity | Enables the transmembrane transfer of a potassium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| glucose metabolic process | The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides. |
| inorganic cation transmembrane transport | A process in which an inorganic cation is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
| negative regulation of insulin secretion | Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of insulin. |
| nervous system process | A organ system process carried out by any of the organs or tissues of neurological system. |
| potassium ion import across plasma membrane | The directed movement of potassium ions from outside of a cell, across the plasma membrane and into the cytosol. |
| potassium ion transmembrane transport | A process in which a potassium ion is transported from one side of a membrane to the other. |
| regulation of insulin secretion | Any process that modulates the frequency, rate or extent of the regulated release of insulin. |
| regulation of ion transmembrane transport | Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. |
| regulation of membrane potential | Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
| response to ATP | 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 ATP (adenosine 5'-triphosphate) stimulus. |
| response to xenobiotic stimulus | 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 stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q4TZY1 | KCNJ12 | ATP-sensitive inward rectifier potassium channel 12 | Bos taurus (Bovine) | PR |
| F1NHE9 | KCNJ12 | ATP-sensitive inward rectifier potassium channel 12 | Gallus gallus (Chicken) | PR |
| B7U540 | KCNJ18 | Inward rectifier potassium channel 18 | Homo sapiens (Human) | PR |
| Q14500 | KCNJ12 | ATP-sensitive inward rectifier potassium channel 12 | Homo sapiens (Human) | PR |
| Q15842 | KCNJ8 | ATP-sensitive inward rectifier potassium channel 8 | Homo sapiens (Human) | PR |
| P48549 | KCNJ3 | G protein-activated inward rectifier potassium channel 1 | Homo sapiens (Human) | PR |
| P97794 | Kcnj8 | ATP-sensitive inward rectifier potassium channel 8 | Mus musculus (Mouse) | PR |
| Q8JZN3 | Kcnj14 | ATP-sensitive inward rectifier potassium channel 14 | Mus musculus (Mouse) | PR |
| P52187 | Kcnj12 | ATP-sensitive inward rectifier potassium channel 12 | Mus musculus (Mouse) | PR |
| P52189 | Kcnj4 | Inward rectifier potassium channel 4 | Mus musculus (Mouse) | PR |
| Q9Z307 | Kcnj16 | Inward rectifier potassium channel 16 | Mus musculus (Mouse) | PR |
| Q61743 | Kcnj11 | ATP-sensitive inward rectifier potassium channel 11 | Mus musculus (Mouse) | PR |
| Q63664 | Kcnj8 | ATP-sensitive inward rectifier potassium channel 8 | Rattus norvegicus (Rat) | PR |
| P52188 | Kcnj12 | ATP-sensitive inward rectifier potassium channel 12 | Rattus norvegicus (Rat) | PR |
| P70673 | Kcnj11 | ATP-sensitive inward rectifier potassium channel 11 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLSRKGIIPE | EYVLTRLAED | PAKPRYRARQ | RRARFVSKKG | NCNVAHKNIR | EQGRFLQDVF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TTLVDLKWPH | TLLIFTMSFL | CSWLLFAMAW | WLIAFAHGDL | APSEGTAEPC | VTSIHSFSSA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FLFSIEVQVT | IGFGGRMVTE | ECPLAILILI | VQNIVGLMIN | AIMLGCIFMK | TAQAHRRAET |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LIFSKHAVIA | LRHGRLCFML | RVGDLRKSMI | ISATIHMQVV | RKTTSPEGEV | VPLHQVDIPM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ENGVGGNSIF | LVAPLIIYHV | IDANSPLYDL | APSDLHHHQD | LEIIVILEGV | VETTGITTQA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RTSYLADEIL | WGQRFVPIVA | EEDGRYSVDY | SKFGNTVKVP | TPLCTARQLD | EDHSLLEALT |
| 370 | 380 | ||||
| LASARGPLRK | RSVPMAKAKP | KFSISPDSLS |