P41180
PR
Gene name |
CASR |
Protein name |
Extracellular calcium-sensing receptor |
Names |
CaR, CaSR, hCasR, Parathyroid cell calcium-sensing receptor 1, PCaR1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:846 |
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
24 structures for P41180
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5FBH | X-ray | 270 A | A/B | 20-541 | PDB |
| 5FBK | X-ray | 210 A | A/B | 20-541 | PDB |
| 5K5S | X-ray | 260 A | A/B | 20-607 | PDB |
| 5K5T | X-ray | 310 A | A | 20-607 | PDB |
| 7DTT | EM | 380 A | A/B | 20-1078 | PDB |
| 7DTU | EM | 440 A | A/B | 20-1078 | PDB |
| 7DTV | EM | 350 A | A/B | 20-1078 | PDB |
| 7DTW | EM | 450 A | A/B | 20-1078 | PDB |
| 7E6T | EM | 300 A | A/B | 20-870 | PDB |
| 7E6U | EM | 600 A | A/C | 20-870 | PDB |
| 7M3E | EM | 320 A | A/B | 20-894 | PDB |
| 7M3F | EM | 280 A | A/B | 20-894 | PDB |
| 7M3G | EM | 250 A | A/B | 20-894 | PDB |
| 7M3J | EM | 410 A | A/B | 20-894 | PDB |
| 7SIL | EM | 270 A | A/B | 1-870 | PDB |
| 7SIM | EM | 270 A | A/B | 1-870 | PDB |
| 7SIN | EM | 590 A | A/B | 1-870 | PDB |
| 8SZF | EM | 280 A | A/B | 19-894 | PDB |
| 8SZG | EM | 360 A | A/B | 19-894 | PDB |
| 8SZH | EM | 310 A | A/B | 19-894 | PDB |
| 8SZI | EM | 350 A | A/B | 19-894 | PDB |
| 8WPG | EM | 270 A | A/B | 20-892 | PDB |
| 8WPU | EM | 310 A | A/B | 20-907 | PDB |
| AF-P41180-F1 | Predicted | AlphaFoldDB |
1134 variants for P41180
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001067696 rs764556468 |
3 | F>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687843 RCV000987309 CA354361936 rs1171102282 |
4 | Y>C | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002233448 RCV002424727 CA354361932 rs1559955224 |
4 | Y>H | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA354361950 RCV002233190 RCV002397386 rs1559955229 |
6 | C>G | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2074528024 RCV001043770 |
7 | C>F | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2074528024 RCV001055733 |
7 | C>Y | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1327682547 RCV001047886 |
10 | L>F | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002440508 RCV000700726 CA354361979 rs1327682547 |
10 | L>I | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001146804 RCV001146802 rs200673016 VAR_058046 RCV001147690 RCV001146803 RCV000802402 CA2569405 RCV002507390 RCV002325547 |
11 | L>S | Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypoparathyroidism Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases HHC1; demonstrates reduced intracellular and plasma membrane expression and signaling to the MAPK pathway in response to extracellular calcium relative to wild-type; fails to be inserted in the microsomes and does not undergo proper glycosylation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs104893717 RCV002362572 CA119539 RCV000008858 VAR_058047 |
13 | L>P | Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases HHC1; has a dose-response curve shifted to the right relative to that of wild-type; demonstrates reduced intracellular and plasma membrane expression and signaling to the MAPK pathway in response to extracellular calcium relative to wild-type; fails to be inserted in the microsomes and does not undergo proper glycosylation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002483414 rs199515839 RCV000524604 RCV001770431 VAR_058048 CA2569406 |
14 | T>A | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 does not demonstrate reduced intracellular and plasma membrane expression and signaling to the MAPK pathway in response to extracellular calcium relative to wild-type; does not fail to be inserted in the microsomes and does undergo proper glycosylation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA354362006 RCV000705581 rs1235999733 |
14 | T>I | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1235999733 CA354362004 RCV001339077 |
14 | T>N | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000800988 RCV002336605 rs1424489717 CA354362028 |
17 | T>I | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2074528751 RCV001318159 |
19 | A>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_058049 CA16617810 RCV000484137 rs1064794290 RCV000527853 |
21 | G>R | Familial hypocalciuric hypercalcemia HHC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002379267 CA2569414 rs201633414 RCV000413560 RCV000457695 |
25 | R>* | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000531050 rs568902441 RCV002395364 CA2569415 RCV001755832 |
25 | R>Q | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000054483 CA144613 rs397514729 |
29 | K>E | Bartter syndrome with hypocalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001341024 rs2074529687 |
32 | I>F | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2569420 RCV000819914 rs758232331 RCV002487826 |
33 | I>S | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001231195 rs1559955362 RCV000711027 CA354362134 |
34 | L>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000029426 rs193922420 RCV000341520 CA213559 RCV000705981 |
36 | G>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1559955372 RCV002233725 CA354362146 |
36 | G>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000289534 rs886041823 RCV001219086 |
37 | L>missing | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121909262 CA119499 RCV000008832 VAR_003585 |
39 | P>A | Familial hypocalciuric hypercalcemia 1 HHC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002489676 CA354362166 rs1458833527 RCV001062218 |
40 | I>V | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553765909 VAR_078139 RCV002232605 CA354362184 |
42 | F>S | Familial hypocalciuric hypercalcemia HHC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs866899753 RCV001319156 CA82607569 |
43 | G>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002379468 RCV001764431 CA2569424 RCV000472590 rs779995504 |
45 | A>E | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs779995504 RCV001222412 |
45 | A>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_058050 CA119511 rs104893702 RCV000008839 |
47 | K>N | Autosomal dominant hypocalcemia 1 HYPOC1; the EC(50) of the mutant is significantly lower than that of wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000639432 rs1553765913 CA354362225 |
49 | Q>E | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001243613 rs1174370617 RCV002393636 |
50 | D>V | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002393567 rs996249687 RCV001228902 CA82607604 |
51 | L>F | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA354362249 RCV002232611 rs1553765922 |
52 | K>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078140 | 53 | S>P | HHC1; decreased G-protein coupled receptor signaling pathway [UniProt] | Yes | UniProt |
|
RCV001342401 rs2074531100 |
54 | R>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000465913 rs1060502847 CA16611278 |
55 | P>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10602861 VAR_078141 RCV000401051 rs886041154 RCV000815977 RCV002469093 RCV002392790 |
55 | P>L | Familial hypocalciuric hypercalcemia Inborn genetic diseases HHC1; decreased G-protein coupled receptor signaling pathway [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001852588 RCV000029431 rs193922424 |
56 | E>missing | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354362273 RCV001039545 RCV002473169 rs1358793834 RCV001536112 |
56 | E>* | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001054997 CA354362286 rs1161795745 |
58 | V>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002233556 CA354362303 rs772906030 RCV002473113 |
60 | C>F | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2074531605 RCV001315221 |
61 | I>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121909265 CA119505 RCV000008836 VAR_003586 |
62 | R>M | Familial hypocalciuric hypercalcemia 1 HHC1; mild; decreased G-protein coupled receptor signaling pathway [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA119507 VAR_003587 rs121909266 RCV000008837 RCV000498645 RCV001851747 |
66 | R>C | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 HHC1; does not affect homodimerization; impaired N-glycosylation; impaired cell membrane localization; decreased G-protein coupled receptor signaling pathway [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_078142 RCV002422761 RCV000806048 CA354362364 RCV002264984 rs1276839362 |
66 | R>H | Familial hypocalciuric hypercalcemia Inborn genetic diseases HHC1; does not affect homodimerization; impaired N-glycosylation; impaired cell membrane localization; decreased G-protein coupled receptor signaling pathway [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA354362362 RCV002422620 RCV000711031 rs1276839362 RCV001372372 |
66 | R>L | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1559956508 RCV002532337 |
67 | G>missing | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002247396 RCV000465400 RCV000518959 CA213579 RCV000029439 rs193922432 |
69 | R>H | Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs745377913 RCV000711034 RCV002431597 RCV000555584 CA2569450 RCV002506333 |
74 | M>L | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001343317 rs2074562667 |
78 | I>T | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2569451 RCV002442657 RCV000801127 rs769294626 RCV002487694 |
78 | I>V | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002454263 rs2074562746 RCV001035455 |
79 | E>D | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2074562715 RCV001246172 |
79 | E>K | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354362461 RCV000806541 rs1576854303 |
80 | E>A | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078143 | 81 | I>M | HHC1; decreased G-protein coupled receptor signaling pathway [UniProt] | Yes | UniProt |
|
RCV001325517 RCV002431928 rs1262032476 CA354362488 |
83 | S>R | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA354362489 rs1559956545 RCV003163129 RCV002232886 |
84 | S>R | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002456416 RCV001316578 rs2074563203 |
89 | P>T | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs193922439 RCV000029447 RCV001215841 CA213593 RCV002426519 |
90 | N>T | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2569453 RCV000799255 rs764023058 |
92 | T>M | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA119535 rs104893709 RCV000008856 |
94 | G>* | Neonatal severe primary hyperparathyroidism [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA354362552 rs1576854356 RCV002434032 RCV000824471 |
94 | G>E | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16611175 RCV002230397 rs1060502850 |
95 | Y>C | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10582119 RCV000226572 rs878853976 |
98 | F>L | Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001219563 rs2074563967 |
98 | F>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_065199 | 100 | T>I | NSHPT; Abolished G-protein coupled receptor activity [UniProt] | Yes | UniProt |
|
rs1433686492 RCV001320359 |
100 | T>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000543101 RCV002323963 RCV000991748 rs199734455 CA2569458 RCV002491012 |
103 | T>I | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2074564250 RCV001040483 RCV001824917 |
104 | V>I | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354362646 RCV002232606 rs1553766242 |
108 | L>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000809288 RCV000711041 CA354362660 rs1559956624 |
110 | A>D | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078144 | 110 | A>T | HHC1; decreased G-protein coupled receptor signaling pathway [UniProt] | Yes | UniProt |
|
RCV002233474 rs1553766245 CA354362686 |
114 | F>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001818146 VAR_003588 CA119481 RCV000008822 rs104893691 |
116 | A>T | Autosomal dominant hypocalcemia 1 HYPOC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2074564685 RCV001307530 |
117 | Q>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs104893695 RCV000008825 CA119487 VAR_058051 |
118 | N>K | Autosomal dominant hypocalcemia 1 HYPOC1; the mutation shifts the concentration-response curve to the left and increases maximal activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1576854465 RCV000807902 CA354362730 |
120 | I>M | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA82610017 CA354362737 RCV000489028 rs201923228 RCV000550849 |
121 | D>E | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
RCV001246260 rs2074564785 |
121 | D>H | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_078145 | 122 | S>C | HYPOC1; increased G-protein coupled receptor signaling pathway [UniProt] | Yes | UniProt |
|
RCV002232614 rs778201006 CA2569462 |
122 | S>Y | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_078146 | 125 | L>F | HYPOC1 [UniProt] | Yes | UniProt |
|
RCV001781207 RCV002482843 rs104893708 RCV000008851 CA119525 RCV000190877 VAR_058052 |
125 | L>P | Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 Bartter syndrome with hypocalcemia HYPOC1; shifts the concentration-response curve of calcium ions to the left [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs121909260 RCV001060775 RCV000489583 RCV002482842 RCV000008815 CA119473 VAR_003589 |
127 | E>A | Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 HYPOC1; increased G-protein coupled receptor signaling pathway [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs121909260 CA213599 RCV000429931 RCV000029450 |
127 | E>G | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2074565202 RCV002480873 RCV001586094 RCV001255709 |
127 | E>K | Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs104893696 RCV001341567 |
128 | F>I | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs104893696 VAR_058053 RCV000008827 CA119489 |
128 | F>L | Autosomal dominant hypocalcemia 1 HYPOC1; increased G-protein coupled receptor signaling pathway [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000623375 CA354362784 rs1553766262 |
128 | F>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078147 | 129 | C>R | HYPOC1 [UniProt] | Yes | UniProt |
|
RCV001253113 RCV002570523 rs2074565392 |
129 | C>Y | Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_058054 rs121909267 CA119521 RCV000008849 |
131 | C>W | Bartter syndrome with hypocalcemia HYPOC1; associated with clinical features of Bartter syndrome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA16611288 RCV000461913 rs1060502857 RCV003168825 |
132 | S>L | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1559956683 RCV002233710 |
133 | E>missing | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2074565597 RCV001296304 |
134 | H>Y | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_078148 | 136 | P>L | HYPOC1; increased G-protein coupled receptor signaling pathway; does not affect cell membrane localization [UniProt] | Yes | UniProt |
|
RCV002228022 RCV002476947 CA119501 RCV000008834 VAR_003590 rs121909263 |
138 | T>M | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 HHC1; decreased G-protein coupled receptor signaling pathway [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA16611180 RCV002230098 rs1060502860 RCV001542562 RCV000497658 |
139 | I>T | Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000498830 CA119503 RCV002271366 VAR_003591 RCV000549803 RCV000008835 rs121909264 |
143 | G>E | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 HHC1; decreased G-protein coupled receptor signaling pathway [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA354362877 RCV003114394 rs769256610 RCV000226673 CA2569467 VAR_078149 RCV002472975 |
143 | G>R | Familial hypocalciuric hypercalcemia HHC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000691472 RCV002332429 rs749288251 CA2569469 |
149 | V>I | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA354362920 RCV002319098 rs1559956735 RCV000711042 |
150 | S>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1576854561 RCV000822790 |
151 | T>missing | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA119485 RCV001818147 VAR_058055 RCV001851746 RCV000008824 rs104893694 |
151 | T>M | Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia HYPOC1; increased G-protein coupled receptor signaling pathway [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1559956753 CA354362939 RCV002232828 |
154 | A>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000639433 rs1553766282 CA354362944 |
155 | N>D | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002341206 rs1553766286 RCV000516202 CA354362959 |
157 | L>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001067948 rs2074566747 |
158 | G>E | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_078150 | 158 | G>R | HHC1 [UniProt] | Yes | UniProt |
| VAR_078151 | 159 | L>P | HHC1; decreased G-protein coupled receptor signaling pathway [UniProt] | Yes | UniProt |
|
RCV001062371 CA2569474 rs767329910 |
159 | L>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2074566896 RCV001222876 RCV002339590 |
160 | F>S | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2074567065 RCV001036299 |
164 | Q>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002334256 rs1559958757 CA354150710 RCV000686284 |
165 | V>G | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000029452 rs193922441 CA213601 RCV002228057 VAR_078152 |
166 | S>G | Familial hypocalciuric hypercalcemia HHC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1471755600 CA354150726 RCV001341431 |
168 | A>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA354150730 RCV000987310 rs1576857840 |
168 | A>V | Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002232604 CA354150732 rs1553766709 |
169 | S>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16611081 rs1060502862 RCV000458850 |
170 | S>P | Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_058056 | 171 | S>N | HHC1 [UniProt] | Yes | UniProt |
|
CA16611107 RCV000498184 RCV002230401 rs764149433 |
171 | S>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1220477298 CA354150746 RCV000639439 |
171 | S>T | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000705547 rs201851934 VAR_078153 RCV000434715 CA16604425 |
172 | R>G | Familial hypocalciuric hypercalcemia HHC1; decreased G-protein coupled receptor signaling pathway [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA354150754 RCV000491681 rs1114167368 |
172 | R>S | Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_003592 | 174 | L>R | HHC1 [UniProt] | Yes | UniProt |
|
rs1060502849 CA16611289 RCV000711043 RCV002230396 |
176 | N>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001237003 rs2074621897 |
177 | K>N | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002271503 CA16611083 RCV002230097 VAR_078154 rs1060502855 |
178 | N>D | Familial hypocalciuric hypercalcemia HHC1; decreased G-protein coupled receptor signaling pathway [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001342800 rs878928634 CA82738221 RCV002350625 |
179 | Q>R | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_058057 CA119543 RCV000008860 rs121909268 |
180 | F>C | Familial hypocalciuric hypercalcemia 1 HHC1; although the mutant receptor is expressed normally at the cell surface it is unresponsive with respect to intracellular signaling (MAPK activation) to increases in extracellular calcium concentrations [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA354150821 rs1576857952 RCV000811794 |
182 | S>F | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000482196 CA16617813 RCV001366550 rs1064794824 |
183 | F>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1576857982 CA354150830 RCV000812439 |
184 | L>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002472936 RCV000029453 RCV002513240 rs193922442 |
185 | R>missing | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000008850 CA119523 rs104893707 RCV001040159 |
185 | R>* | Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001804716 RCV002496307 RCV000008813 CA119471 VAR_003593 RCV000412784 rs104893689 RCV000627760 RCV000008814 |
185 | R>Q | Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 HHC1; decreased G-protein coupled receptor signaling pathway [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002319592 RCV000823539 CA354150850 rs778535491 |
188 | P>T | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001212286 rs762998933 RCV002348699 |
189 | N>I | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2569509 rs762998933 RCV002272251 RCV000480926 RCV000694537 |
189 | N>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2569510 RCV001351753 rs772067555 |
191 | E>G | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA119491 RCV000008828 VAR_058058 rs104893697 |
191 | E>K | Autosomal dominant hypocalcemia 1 HYPOC1; increased G-protein coupled receptor signaling pathway [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA16617814 RCV002525806 RCV000482781 rs1064793992 |
193 | Q>* | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553766728 RCV001049518 RCV002355033 |
196 | A>V | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774235352 RCV001347637 |
197 | M>K | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002356630 RCV001214918 CA16609439 rs1060499700 RCV000449530 |
204 | F>I | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002352148 RCV002233264 rs1060499700 CA354150960 |
204 | F>L | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2569514 RCV000591668 RCV000639456 rs775751453 RCV002358665 |
205 | R>C | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001229819 RCV002356986 rs775751453 |
205 | R>G | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000820179 rs763162046 RCV002487830 CA2569515 RCV002352451 |
205 | R>H | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001323850 rs2074623917 |
208 | W>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224253 rs2074624103 |
211 | T>I | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000813527 rs1576858127 CA354151017 |
212 | I>T | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2074624132 RCV001070959 |
212 | I>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002232821 rs1559958979 CA354151025 |
213 | A>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078155 | 215 | D>G | HHC1; decreased G-protein coupled receptor signaling pathway [UniProt] | Yes | UniProt |
|
rs1553731681 RCV000029454 CA213604 |
215 | D>H | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs768766649 RCV002232613 CA2569516 |
216 | D>N | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002481456 RCV001144946 CA2569518 RCV001146896 RCV001144948 RCV002365648 RCV001144947 rs201091657 RCV000472371 |
217 | D>N | Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypoparathyroidism Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201091657 RCV000494358 CA354151047 RCV000623830 |
217 | D>Y | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002497795 rs2074624616 RCV001233279 |
218 | Y>C | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057520583 RCV001238160 |
218 | Y>H | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1237913277 CA354151062 RCV001037233 |
219 | G>E | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA354151067 RCV000639448 RCV000523669 rs1202110240 |
220 | R>Q | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA354151065 VAR_078156 rs1482119762 RCV000498127 RCV000542291 RCV002496905 RCV002289683 |
220 | R>W | Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 HHC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA144609 RCV001797617 RCV001384281 RCV000054481 RCV000518374 VAR_078157 RCV002490628 rs397514728 |
221 | P>L | Autosomal dominant hypocalcemia 1 Autosomal dominant hypocalcemia Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 HYPOC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA144611 VAR_058059 rs397514728 RCV000054482 RCV002515738 |
221 | P>Q | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 HHC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_078158 | 221 | P>S | HHC1; decreased G-protein coupled receptor signaling pathway [UniProt] | Yes | UniProt |
| VAR_058060 | 225 | K>T | HHC1 [UniProt] | Yes | UniProt |
|
CA354151112 rs1085307984 RCV002499075 RCV000657571 RCV000639467 |
227 | R>* | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000008818 RCV001384282 VAR_003594 CA119475 rs28936684 |
227 | R>L | Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia NSHPT; decreased G-protein coupled receptor signaling pathway; does not affect cell membrane localization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV002496308 RCV000524505 RCV000516668 VAR_003595 RCV000008833 RCV002265551 rs28936684 CA212891 |
227 | R>Q | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 HHC1; G-protein coupled receptor signaling pathway; less markedly impaired relative to wild-type than L-227; does not affect cell membrane localization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
| VAR_078159 | 228 | E>K | HYPOC1 [UniProt] | Yes | UniProt |
|
rs2074625376 RCV001070649 |
229 | E>A | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000517605 rs1057518616 RCV001851427 CA354151177 |
236 | C>F | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000413887 CA16042472 rs1057518616 RCV001851004 |
236 | C>Y | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002233185 CA354151187 rs373376842 |
238 | D>H | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2569525 RCV002375257 RCV001238076 rs373376842 |
238 | D>N | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA354151236 RCV002234007 rs1553766768 |
245 | Q>* | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002381353 rs200382161 CA216140 RCV000054625 RCV000469248 RCV001762165 |
247 | S>F | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000325278 RCV002492770 RCV000177056 VAR_058061 RCV002426852 RCV000331288 CA202250 RCV000295987 rs62269092 RCV000513760 RCV002257478 RCV001081445 RCV000987311 |
250 | E>K | Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypoparathyroidism Hereditary cancer-predisposing syndrome Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001052620 RCV002393265 rs2074626568 |
251 | E>D | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000639425 CA2569528 rs140418347 RCV003162868 |
251 | E>G | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1060502854 RCV002230399 CA16611086 |
251 | E>Q | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2569529 RCV002393140 RCV001553724 rs202179597 RCV000476640 |
253 | Q>K | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2074626876 RCV001220217 RCV002402661 |
256 | V>A | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001305672 rs1200068518 RCV002411979 CA354151331 |
259 | I>T | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2074627053 RCV001213272 |
260 | Q>E | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000545814 RCV001357374 CA2569534 RCV002483415 RCV002438358 rs200386687 |
260 | Q>R | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1161925579 RCV002233234 CA354151356 |
263 | T>A | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002418543 rs201456938 RCV001066175 RCV002482098 CA2569535 |
263 | T>M | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001305567 rs2074627422 |
266 | V>I | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_058062 | 271 | S>F | HHC1 [UniProt] | Yes | UniProt |
|
RCV000807070 rs1576858432 CA354151414 |
272 | S>N | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001067519 rs2074627937 |
273 | G>A | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002231382 rs1553766796 CA354151460 |
279 | L>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000696960 CA354151464 rs1559959234 |
280 | I>N | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001053566 CA82738592 rs199729084 RCV002445286 |
282 | E>D | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002448683 RCV000545591 CA2569544 rs751540983 RCV002223862 |
282 | E>G | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002442518 RCV000703129 CA354151476 rs1269873145 |
282 | E>K | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000493534 RCV002222184 RCV002268085 RCV002348324 RCV000463689 RCV001030008 rs142745096 CA2569545 |
283 | I>T | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002408956 CA10582120 RCV000274163 RCV002494625 rs200039241 RCV000231296 |
285 | R>Q | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1553766800 RCV000639446 RCV002406378 CA354151495 |
285 | R>W | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16611296 RCV000458780 rs1060502843 RCV002480418 |
286 | R>C | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002233648 rs922511747 CA82738600 RCV002485705 |
286 | R>H | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs922511747 RCV001070778 |
286 | R>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001314560 rs2074629436 |
287 | N>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000694557 CA354151517 RCV002369876 rs1559959294 RCV002485676 |
289 | T>A | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002375407 CA2569548 RCV001317301 rs755840531 |
289 | T>M | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001223268 rs755840531 |
289 | T>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2569550 RCV001057768 rs748306088 |
291 | K>N | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002233138 CA354151558 rs1559959332 |
295 | A>G | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000679940 rs1559959353 CA354151574 |
297 | E>D | Autosomal dominant hypocalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_003596 CA119469 RCV002228021 RCV000008811 rs121909259 RCV000008812 |
297 | E>K | Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 HHC1; decreased G-protein coupled receptor signaling pathway [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001319746 rs121909259 |
297 | E>Q | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002230961 RCV000486912 CA16617816 rs1064797049 |
298 | A>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2074630497 RCV001343188 |
302 | S>T | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2074630775 RCV001055230 |
306 | A>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2569561 RCV002400187 rs751095642 RCV001035345 |
307 | M>I | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001853080 CA216142 rs387907397 RCV000054626 |
307 | M>T | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000812092 RCV002370186 rs1576858741 CA354151649 |
309 | Q>P | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1356911586 CA354151675 RCV000704054 RCV002442528 |
312 | H>Q | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA82738662 rs200838528 RCV002375229 RCV001229178 |
313 | V>M | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1389231880 RCV002377066 RCV002231746 CA354151705 |
315 | G>D | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2569565 RCV002480440 rs755997016 RCV001071002 RCV002375000 |
316 | G>S | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001305935 rs2074631702 |
321 | A>T | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354151859 RCV001302315 rs758569521 |
324 | A>T | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000029455 CA213606 rs193922444 |
325 | G>E | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1240483254 CA354151923 RCV000558888 |
327 | I>M | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2569570 RCV002384120 RCV000733127 rs747090029 RCV002231747 |
331 | R>Q | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2074632178 RCV002379547 RCV001051110 |
331 | R>W | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2569572 RCV000270421 rs548403340 RCV002429304 RCV001309597 RCV000362753 RCV000333822 RCV000276416 CA2569573 |
336 | K>N | Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypoparathyroidism Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
| VAR_065200 | 336 | K>del | NSHPT [UniProt] | Yes | UniProt |
|
RCV002433971 RCV000814208 CA2569574 rs770237878 |
337 | V>F | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001349213 rs2074632633 |
339 | P>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002230096 CA16611089 rs1060502853 |
340 | R>G | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2569577 rs768228172 RCV001214695 RCV002318904 |
340 | R>K | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200196962 CA82738777 RCV000559230 RCV002377065 |
341 | K>N | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001313827 rs2074632920 |
342 | S>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2569581 RCV001345715 rs750427763 |
343 | V>A | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002386244 rs767003690 CA2569580 RCV002233356 |
343 | V>I | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000823082 rs1390562571 CA354152256 |
345 | N>I | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1576858988 CA354152335 RCV000818086 |
348 | A>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002318906 CA354152344 rs1576859001 |
349 | K>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001852587 RCV000029425 rs193922419 CA213557 |
353 | E>A | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_060206 | 354 | E>A | EIG8; patients present juvenile myoclonus epilepsy [UniProt] | Yes | UniProt |
|
CA354152473 rs1576859014 RCV000798250 |
355 | T>A | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA354152539 RCV002422692 rs1576859031 RCV000794063 |
359 | H>L | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1576859031 RCV001051183 RCV002416386 |
359 | H>R | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002233162 rs1559959592 CA354152535 |
359 | H>Y | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001315869 rs2074633801 |
363 | G>D | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2569588 RCV002319549 rs757475954 RCV002233473 |
363 | G>S | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000537669 RCV000764462 rs200771541 CA2569589 RCV002323962 |
364 | A>E | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001229126 rs2074633882 |
366 | G>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1576859083 CA354152594 RCV000803085 |
368 | L>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002318909 RCV001860617 rs1217895146 CA354152598 |
369 | P>T | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001052865 RCV002462291 rs2074634164 RCV002451218 |
370 | V>M | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs768952710 RCV000694515 CA2569594 RCV003163181 |
371 | D>N | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001338486 rs2074634402 |
372 | T>I | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001239154 rs571007208 |
372 | T>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001064071 rs760190284 |
375 | R>I | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2569599 rs760190284 RCV002440265 RCV002233475 |
375 | R>K | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2074634579 RCV001052095 RCV002445275 |
376 | G>V | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001046969 RCV002320268 CA82738897 RCV002481930 rs201338034 |
378 | E>K | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001234088 rs2074634758 |
380 | S>G | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000686021 rs145869851 RCV002331326 RCV002485594 CA82738904 |
380 | S>R | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001206953 rs1386553525 CA354152689 |
382 | D>E | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002330870 RCV001764564 RCV000544351 RCV003144333 CA2569602 RCV002491010 rs199980578 |
382 | D>N | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000686023 CA82738910 RCV002485595 rs148573275 RCV002331327 |
383 | R>S | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
RCV002358497 RCV002231729 rs1553766867 CA354152707 |
385 | S>N | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA82738915 RCV002320226 rs377282860 RCV002489537 RCV001034984 |
388 | S>L | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002506433 CA2569604 RCV000592651 RCV002325131 RCV000799519 rs377282860 |
388 | S>W | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2569607 RCV000823771 rs757533550 |
390 | A>G | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs202228006 RCV002551726 RCV002318914 CA82738922 |
390 | A>T | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001341752 rs2074635544 |
391 | F>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002234527 CA354152753 rs1287075426 |
392 | R>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000639463 RCV002331159 rs1287075426 CA354152751 |
392 | R>Q | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002233445 rs1559959773 CA354152761 |
394 | L>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057517712 RCV000413522 CA16042449 RCV002523905 |
395 | C>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000809685 CA354152778 rs1576859271 |
396 | T>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_058063 RCV000684751 CA16617817 RCV002525831 rs1064794291 |
397 | G>R | Familial hypocalciuric hypercalcemia HHC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000694909 rs202101164 RCV002485682 RCV002317920 CA2569610 |
398 | D>G | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002255127 CA216118 RCV000054614 rs201177696 RCV001818230 RCV002316208 RCV001083262 |
398 | D>N | Familial hypocalciuric hypercalcemia Hereditary cancer-predisposing syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201177696 RCV001047702 |
398 | D>Y | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2569611 rs576643925 RCV001341859 |
400 | N>I | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs2074636407 RCV001347984 |
402 | S>N | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2569612 rs755403770 RCV002343541 RCV002253569 RCV000702074 |
402 | S>R | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2074636577 RCV001297787 |
404 | V>G | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215407 rs2074636705 |
405 | E>G | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA82739006 RCV001305126 rs868784672 RCV002357107 |
405 | E>K | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000802283 rs1576859345 RCV002360955 CA354152859 |
409 | I>V | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002370080 RCV000795003 rs1473520699 CA354152886 |
412 | T>M | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553766896 RCV000639444 CA354152892 RCV002360559 |
413 | H>L | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001322338 CA213561 RCV000029427 RCV001725117 rs193922421 |
415 | R>Q | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001858739 CA354152917 RCV002409322 rs1576859379 RCV000991735 |
417 | S>C | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001062165 rs2074637455 RCV002374957 |
423 | A>T | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002232610 rs1553766906 CA354152987 |
427 | I>T | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2074637558 RCV001243270 |
427 | I>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs895543540 RCV002506126 RCV000457221 RCV003168826 CA16611300 |
428 | A>V | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000525837 RCV002316541 RCV002476143 rs746515147 CA2569619 |
429 | H>Q | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2569617 RCV000385213 RCV000322558 RCV000283739 RCV000227761 RCV000251383 RCV001582765 rs142818334 RCV000327874 RCV002317758 |
429 | H>Y | Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypoparathyroidism Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA82739080 RCV001245211 rs201520875 RCV001751492 RCV002379939 |
430 | A>S | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002384117 RCV002231730 CA2569620 rs199511990 RCV002476144 |
433 | D>H | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs2074638026 RCV001041074 |
434 | I>M | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002232782 CA354153037 rs1553766913 |
435 | Y>F | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001145051 RCV001145048 RCV001145050 RCV001145049 rs1553766916 |
436 | T>S | Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypoparathyroidism Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001861956 CA354153046 rs1559959958 RCV000711028 |
437 | C>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1559959958 RCV001042738 |
437 | C>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209922 rs2074638314 |
439 | P>H | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002386707 CA82739130 rs267599574 RCV001918600 |
443 | L>F | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001805071 RCV002379469 rs267599574 CA16611301 RCV000469851 |
443 | L>I | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002316202 RCV001094836 RCV000470150 RCV000029428 RCV000404942 RCV000335184 RCV000177055 CA202248 RCV000287145 rs12493789 |
445 | T>A | Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypoparathyroidism Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA354153181 rs1471887387 RCV001309589 |
445 | T>N | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002231733 RCV002384119 rs1553766925 CA354153195 |
446 | N>S | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs141315218 RCV001221144 CA2569624 RCV002379834 |
447 | G>D | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA354153270 rs540006567 RCV000818715 |
451 | D>Y | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs756206452 CA2569626 RCV000466085 RCV002496781 |
452 | I>V | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000528832 rs1553766930 CA354153398 |
457 | A>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001345545 rs2074639368 |
459 | Q>K | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_078160 | 459 | Q>R | HHC1; decreased G-protein coupled receptor signaling pathway; does not affect cell membrane localization [UniProt] | Yes | UniProt |
|
RCV002386427 RCV000801525 rs753189535 CA2569648 |
460 | V>I | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA354154786 rs1553768082 RCV002232783 |
461 | L>Q | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002388263 rs201572629 RCV000695489 CA2569649 |
463 | H>Q | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000008857 CA119537 rs104893716 VAR_058064 RCV002390100 RCV000459271 |
465 | R>Q | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases HHC1; loss-of-function mutation; the quantity of the mutant receptor is higher than that of the wild-type receptor; dose-response curves show that the mutation significantly reduces the sensitivity of the receptor to extracellular calcium concentrations [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV002319002 RCV000468370 CA2569651 rs751217000 RCV001824137 RCV000991736 |
465 | R>W | Epilepsy, idiopathic generalized, susceptibility to, 8 Epilepsy, idiopathic generalized, susceptibility to, 8 (eig8) Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001203475 rs2074810921 |
468 | N>H | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1468055232 RCV002393302 CA354154883 RCV001061334 |
469 | F>L | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2074811205 RCV001070489 |
470 | T>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001756161 CA2569655 rs145042469 RCV000686954 RCV002319081 |
471 | N>I | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002233355 CA354154934 rs1559965073 |
473 | M>I | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001343489 rs2074811449 |
473 | M>T | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2074811389 RCV001350144 |
473 | M>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002390688 CA354154951 rs1406184611 RCV000820267 |
475 | E>K | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1406184611 RCV001222210 |
475 | E>Q | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354154980 RCV001051303 rs1416680566 |
477 | V>M | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2074811961 RCV001307911 |
480 | D>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2569659 rs774174934 RCV000553761 |
482 | C>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs761468327 CA2569660 RCV000470323 |
482 | C>Y | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2569663 rs201829972 RCV000702696 RCV002388322 |
486 | V>L | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000624278 CA82745948 rs201829972 |
486 | V>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA354155121 RCV002233472 RCV002388060 rs1206946808 |
487 | G>E | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002388059 RCV000639449 RCV002483826 CA2569664 RCV001756062 rs146739893 |
488 | N>S | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002268137 RCV000691702 CA354155147 rs1553768108 RCV000518357 |
489 | Y>C | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000823872 CA82745953 rs202112921 RCV002390711 |
490 | S>F | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002489066 CA16611092 RCV002393141 RCV001821282 rs140347078 RCV000456763 |
493 | N>S | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001051207 RCV002393257 rs140347078 |
493 | N>T | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002393342 RCV001071318 rs1471885969 |
499 | E>A | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001299795 RCV002393711 rs2074813113 |
499 | E>D | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002395362 RCV002231378 CA82745972 rs200240922 |
500 | D>E | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1576870394 RCV000822682 CA354155245 |
502 | S>F | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs757499017 RCV001218583 |
503 | I>M | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200910001 RCV001321430 CA2569668 |
503 | I>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000791954 rs201536450 CA354155253 |
504 | V>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002395363 RCV002476145 rs201536450 RCV000531852 CA2569670 |
504 | V>M | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs193922422 RCV000029429 |
505 | F>missing | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002230094 CA16611121 rs1060502845 |
509 | G>E | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA213564 RCV001070010 RCV000029430 RCV001659729 rs193922423 VAR_058065 |
509 | G>R | Familial hypocalciuric hypercalcemia HHC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV002402602 RCV001207216 rs372504955 CA2569673 |
510 | Y>C | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001766635 RCV000794416 CA354155311 RCV002397578 rs1576870447 |
512 | N>D | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001238687 rs768663095 CA2569674 |
517 | K>E | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs377233360 RCV001052412 CA2569676 RCV002400302 |
518 | G>E | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2074814547 RCV001322451 RCV002402897 |
518 | G>R | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001058726 rs769907714 CA2569680 |
522 | F>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001310017 rs776534485 |
524 | N>K | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000546736 RCV002319041 rs199688157 CA2569681 |
525 | E>K | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1553768128 RCV000639431 CA354155530 |
527 | K>N | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057518409 CA16042450 RCV000414090 RCV002524650 |
540 | S>F | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2569715 rs201202700 RCV002507088 RCV002319073 RCV000639424 |
541 | N>S | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001040731 rs201202700 CA354156138 |
541 | N>T | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1060502846 RCV000473355 |
542 | C>missing | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1576875740 CA354156152 RCV000822043 |
543 | S>T | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002229733 RCV000279142 CA10602891 RCV002401974 RCV002272201 rs886041637 |
544 | R>* | Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002318969 RCV000337880 RCV000390791 RCV000727289 RCV001081459 RCV001838993 CA2569716 RCV002255323 rs115230894 RCV000312098 RCV000251515 RCV000281394 |
544 | R>Q | Epilepsy, idiopathic generalized, susceptibility to, 8 Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypoparathyroidism Familial hypocalciuric hypercalcemia Hereditary cancer-predisposing syndrome Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001210355 rs2074897267 |
547 | L>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA82747979 rs200647941 RCV001037727 |
548 | A>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_078161 | 549 | G>R | HHC1 [UniProt] | Yes | UniProt |
| VAR_078162 | 550 | T>I | HHC1; decreased G-protein coupled receptor signaling pathway [UniProt] | Yes | UniProt |
|
CA16611307 RCV000465116 rs1060502861 VAR_078163 |
551 | R>K | Familial hypocalciuric hypercalcemia NSHPT; decreased G-protein coupled receptor signaling pathway; does not affect cell membrane localization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs104893719 CA119547 RCV000008862 VAR_058066 |
553 | G>R | Familial hypocalciuric hypercalcemia 1 HHC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA354156214 RCV000991737 rs1576875807 RCV000808599 |
553 | G>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002400312 RCV001054888 rs2074897865 |
554 | I>F | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001280870 rs2074897929 |
554 | I>T | Autosomal dominant hypocalcemia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1576875819 RCV000991738 RCV001323851 RCV002236001 RCV002319138 CA354156225 |
555 | I>T | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_058067 CA2569720 RCV002465826 RCV001037938 rs777646067 |
555 | I>V | Familial hypocalciuric hypercalcemia HHC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA354156238 RCV001208343 RCV001030007 rs1576875835 VAR_012649 |
557 | G>E | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 HHC1; Abolished G-protein coupled receptor activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
CA213567 RCV000029432 rs193922425 |
559 | P>H | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2074898625 RCV001040236 |
561 | C>G | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs193922426 RCV000029433 CA213569 |
562 | C>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002295274 RCV000029434 rs193922427 CA213571 |
562 | C>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_058068 | 562 | C>Y | HHC1 [UniProt] | Yes | UniProt |
|
rs2074898883 RCV002412061 RCV002473274 RCV001339819 |
563 | F>L | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354156276 rs1553768731 RCV000498666 RCV001851368 |
563 | F>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000711030 CA354156289 RCV001037611 VAR_078164 rs1559967708 |
565 | C>G | Familial hypocalciuric hypercalcemia HHC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
CA354156290 rs1559967708 RCV000986113 |
565 | C>R | Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA354156291 rs1553768736 RCV002231734 |
565 | C>Y | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002230095 rs1060502851 CA16611311 |
568 | C>G | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078165 | 569 | P>H | HYPOC1; increased G-protein coupled receptor signaling pathway [UniProt] | Yes | UniProt |
| VAR_078166 | 571 | G>W | HHC1; decreased G-protein coupled receptor signaling pathway; does not affect cell membrane localization [UniProt] | Yes | UniProt |
|
RCV001318308 rs2074899710 |
575 | D>N | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224938 rs2074899858 |
576 | E>D | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs104893690 VAR_058069 CA119545 RCV000008861 |
582 | C>F | Familial hypocalciuric hypercalcemia 1 HHC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001058244 rs2074920676 |
582 | C>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA119477 VAR_003597 RCV000477640 RCV000008819 rs104893690 |
582 | C>Y | Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia NSHPT and HHC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001294742 rs2074920846 |
583 | N>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_078167 | 583 | N>del | HHC1; impaired homodimerization; impaired cell membrane localization [UniProt] | Yes | UniProt |
|
RCV001046366 rs2074921447 |
592 | N>D | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000349859 RCV002318971 CA2569742 RCV000388159 RCV000292615 RCV000231272 RCV001689757 rs117375173 RCV000518422 RCV000374352 |
592 | N>S | Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypoparathyroidism Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001853698 RCV000522441 rs1553768903 CA354157352 |
597 | S>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2569746 RCV000690796 rs147376568 |
604 | E>D | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA119533 RCV000008855 RCV000414467 rs104893712 RCV001851749 RCV001804717 VAR_058070 |
604 | E>K | Autosomal dominant hypocalcemia 1 Autosomal dominant hypocalcemia Familial hypocalciuric hypercalcemia HYPOC1; there is a significant leftward shift in the concentration response curves for the effects of extracellular calcium on both intracellular calcium mobilization and MAPK activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002483411 RCV002413509 RCV000559725 CA82748557 rs1052956823 |
607 | S>L | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2569748 rs199761731 RCV002411490 RCV000466902 |
609 | T>A | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002411489 rs759904153 RCV000465141 CA2569749 |
609 | T>M | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003166161 RCV000797766 CA354157510 rs759904153 |
609 | T>R | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000008829 rs104893698 CA119493 VAR_058071 |
612 | F>S | Autosomal dominant hypocalcemia 1 HYPOC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002230395 CA354157556 RCV000494527 rs1060502842 CA16611196 |
613 | G>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA82748574 RCV002406379 rs201564925 RCV000639470 |
614 | I>F | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002484151 RCV002411776 RCV001211502 CA82748583 rs199513106 |
614 | I>M | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002411487 rs768660050 RCV000467679 CA2569752 RCV002481453 RCV003144271 |
615 | A>T | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_015414 CA119513 RCV000008840 rs104893703 |
616 | L>V | Autosomal dominant hypocalcemia 1 HYPOC1; does not affect the total accumulation of inositol phosphates as a function of extracellular calcium concentrations in transfected cells [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001322390 rs2074923685 |
618 | L>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2569754 rs751538967 RCV002406870 RCV000817623 |
621 | V>M | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_058072 | 623 | G>D | HHC1 [UniProt] | Yes | UniProt |
|
rs2074924073 RCV001301687 |
627 | T>K | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs193922429 RCV000029436 |
629 | F>missing | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002233129 CA354157849 rs1559968392 |
630 | V>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs755874864 CA2569758 RCV000796182 RCV002406747 |
631 | L>V | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001317426 RCV002412021 rs2074924501 |
632 | G>S | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001327686 rs2074924739 |
635 | I>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2074924937 RCV001342843 |
637 | F>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000639430 rs1185593894 CA354157953 RCV002406377 RCV002492995 |
638 | R>C | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2569760 RCV002411488 RCV000459788 RCV002489065 rs201852643 |
638 | R>H | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10588349 RCV000255744 RCV001855012 rs201852643 |
638 | R>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA354157969 rs1559968444 RCV001047678 |
639 | N>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1559968450 RCV002473220 RCV001207997 |
640 | T>I | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1559968450 RCV002412041 CA354157985 RCV001324340 |
640 | T>K | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA82748626 rs894717560 RCV001216422 |
642 | I>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001222013 rs2074924614 |
645 | A>missing | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs193922430 CA213575 RCV000029437 |
645 | A>D | Familial hypoparathyroidism [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA119517 RCV000008843 rs104893705 RCV002318944 RCV000054484 |
648 | R>* | Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002319191 rs757736220 CA82748652 RCV002549395 |
648 | R>Q | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1553768963 CA354158106 RCV000541084 RCV002413512 |
650 | L>F | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_065202 | 650 | L>P | NSHPT [UniProt] | Yes | UniProt |
|
rs2074926028 RCV001210130 |
651 | S>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2074926080 RCV001298030 |
651 | S>Y | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002420726 RCV002232609 CA354158146 rs1553768964 |
653 | L>F | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553768966 RCV002232615 CA354158161 |
654 | L>F | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001308920 rs2074926557 |
656 | F>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_078168 | 657 | S>Y | HHC1 [UniProt] | Yes | UniProt |
|
RCV000551549 rs1553768972 |
658 | L>missing | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220432 CA82748681 rs201609857 |
658 | L>M | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2074926931 RCV001210848 |
661 | C>* | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_078169 | 661 | C>Y | HHC1 [UniProt] | Yes | UniProt |
|
RCV000816749 rs1576877276 RCV002415916 CA354158270 |
667 | F>L | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002418991 RCV001337390 rs2074927361 |
667 | F>S | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001227236 rs2074927295 |
668 | F>missing | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354158285 RCV001037443 rs1576877284 |
669 | I>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_058073 CA119497 RCV000008831 rs104893700 |
670 | G>E | Neonatal severe primary hyperparathyroidism NSHPT [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_058074 | 670 | G>R | HHC1 [UniProt] | Yes | UniProt |
|
RCV001215539 rs2074927630 |
671 | E>missing | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002481455 RCV000471289 rs199957040 CA2569767 |
671 | E>V | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs193922431 RCV001321384 |
672 | P>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs193922431 RCV000029438 CA213577 |
672 | P>T | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000802383 CA354158314 rs1576877306 |
673 | Q>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000797444 rs1576877311 RCV002422717 CA354158323 |
674 | D>E | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2569769 RCV002416350 rs768204447 RCV001041951 |
676 | T>M | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2569770 RCV002422680 RCV000793144 RCV002477802 RCV002290430 rs768204447 |
676 | T>R | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2074927990 RCV001220163 |
676 | T>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1196241183 RCV000796050 CA354158348 RCV002422708 |
678 | R>C | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001068981 rs1278025825 CA354158349 |
678 | R>H | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001227837 rs1553768983 |
679 | L>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354158355 RCV001816589 rs1553768983 RCV002232607 |
679 | L>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2569772 rs767363250 RCV002307504 RCV001289355 RCV002230400 |
680 | R>C | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_078170 CA2569773 rs773146939 RCV002494624 RCV000991741 RCV000231951 |
680 | R>H | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 HHC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000008821 CA119479 rs121909261 VAR_003598 |
681 | Q>H | Autosomal dominant hypocalcemia 1 HYPOC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_078171 | 681 | Q>R | HYPOC1; increased G-protein coupled receptor signaling pathway; does not affect cell membrane localization [UniProt] | Yes | UniProt |
|
CA354158373 rs1553768989 RCV001309382 RCV000516779 |
682 | P>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1576877377 RCV000812194 CA354158393 |
685 | G>A | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002420418 RCV002483412 rs753013993 RCV000525289 CA2569776 VAR_060207 |
686 | I>V | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases EIG8; patients present juvenile myoclonus epilepsy [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs2074930161 RCV001227208 RCV001289356 |
687 | S>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003160597 rs150869744 RCV001072070 |
688 | F>L | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_065203 | 689 | V>M | NSHPT [UniProt] | Yes | UniProt |
|
RCV002230402 rs1553769002 |
695 | I>missing | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2074930623 RCV001346975 |
695 | I>M | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_065494 | 697 | V>M | HHC1 [UniProt] | Yes | UniProt |
|
rs1576877437 RCV002478914 RCV000819429 CA354158536 |
700 | N>S | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2569780 RCV001307336 RCV002418933 rs757302986 |
701 | R>C | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA354158557 RCV000798609 RCV001766652 rs1284532044 RCV002422725 |
701 | R>H | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1559968643 RCV002233599 CA354158568 |
702 | V>A | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs201828974 RCV000704630 RCV002319095 CA2569781 |
702 | V>I | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001859668 RCV000358646 CA10605790 rs886043656 |
703 | L>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA354158592 RCV000711033 rs1559968657 RCV001053679 |
704 | L>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078172 | 707 | E>V | HHC1; decreased protein level [UniProt] | Yes | UniProt |
|
rs2074931493 RCV001253150 |
708 | A>T | Idiopathic generalized epilepsy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001208041 rs2074931664 |
711 | P>T | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16611123 RCV002418409 rs1060502844 RCV000469659 |
712 | T>A | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2569782 RCV001068540 RCV002418553 rs746383651 |
712 | T>N | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001352484 rs746383651 |
712 | T>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1576877507 RCV002319209 CA354158732 |
714 | F>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002431922 RCV001323922 rs2074932182 |
715 | H>N | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001350328 rs768333005 |
716 | R>G | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2569787 RCV001147114 RCV000477532 RCV002429523 RCV001145146 RCV001145144 RCV001145145 RCV002481457 rs201670662 |
716 | R>H | Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypoparathyroidism Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA354158772 RCV000639443 rs201670662 |
716 | R>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001215643 rs2074932551 |
718 | W>C | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001351646 rs2074932631 |
720 | G>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs942603230 RCV002319110 RCV000806710 RCV002495102 CA82748777 |
721 | L>F | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_058075 rs104893718 CA119541 RCV000008859 |
727 | L>Q | Autosomal dominant hypocalcemia 1 HYPOC1; increased G-protein coupled receptor signaling pathway; does not affect cell membrane localization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_058076 | 728 | V>F | HHC1 [UniProt] | Yes | UniProt |
|
rs1576877587 CA354158921 RCV002424835 RCV000798413 |
728 | V>L | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA354158972 rs1576877607 RCV000792853 |
732 | T>A | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA354158995 RCV000809655 rs1576877611 RCV002424893 |
733 | F>L | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA82748800 rs542541990 RCV001316508 |
734 | M>I | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV001062657 RCV003160510 CA354159001 rs1286818613 |
734 | M>L | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002233255 rs200318708 CA2569792 RCV002424644 RCV002485666 |
737 | V>I | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002489658 CA2569794 RCV001059732 RCV002429680 rs759337909 |
738 | I>T | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA354159070 RCV000823304 RCV002415944 rs375468610 |
739 | C>S | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs375468610 RCV000529628 RCV002319013 RCV002481665 RCV000517161 CA2569795 |
739 | C>Y | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_058077 | 742 | W>R | HHC1 [UniProt] | Yes | UniProt |
|
RCV001326553 CA2569796 rs751816764 |
744 | Y>F | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA354159132 RCV002232985 RCV002422603 rs1328499732 |
744 | Y>H | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2569799 RCV002418408 rs562364178 RCV000470653 |
746 | A>T | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002431598 rs139417576 RCV000539780 CA2569800 |
746 | A>V | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000808059 CA354159159 rs1576877692 |
747 | P>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs869320729 RCV000008820 |
748 | P>missing | Neonatal severe primary hyperparathyroidism [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000711035 RCV001083177 rs1553769059 |
748 | P>= | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2074934463 RCV000711035 RCV001083177 |
748 | P>= | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2036400 RCV000711035 RCV001083177 |
748 | P>= | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354159169 RCV000532551 rs193922433 |
748 | P>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000478953 RCV000029440 CA213582 rs193922433 |
748 | P>Q | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001205771 VAR_078173 RCV001289357 RCV002272407 rs193922433 |
748 | P>R | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 HHC1 [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
rs2074934184 RCV001040291 |
748 | P>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001216855 rs1559968879 |
750 | S>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001753429 RCV000029442 CA213584 RCV002228056 rs193922434 |
752 | R>C | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002442506 rs193922434 RCV000701525 CA354159192 |
752 | R>G | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001147997 RCV001148000 rs771529256 RCV002448993 RCV000639441 RCV001147999 CA2569805 RCV001147998 |
752 | R>H | Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypoparathyroidism Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA354159191 RCV002232603 rs193922434 |
752 | R>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2074934867 RCV001234142 |
753 | N>S | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777361297 RCV002231735 CA354159209 RCV002448680 |
754 | Q>P | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002319117 RCV000819937 rs201366240 CA2569807 |
755 | E>D | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001238614 rs2074935054 |
755 | E>G | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001315659 rs2074935149 |
757 | E>K | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354159289 RCV000808149 rs1453953571 |
760 | I>F | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA354159297 RCV000802626 rs1553769074 |
760 | I>M | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078174 | 761 | I>del | HHC1 [UniProt] | Yes | UniProt |
|
RCV001323546 RCV001751626 rs2074935297 |
764 | T>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000797057 rs1363412937 RCV001280856 CA354159356 |
765 | C>R | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001205236 CA2569809 rs776652154 |
766 | H>Y | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001233441 VAR_021019 rs2074935748 |
767 | E>K | Familial hypocalciuric hypercalcemia HYPOC1 [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
CA2569812 RCV000781967 rs201858689 RCV001238616 RCV002442605 RCV001759477 |
768 | G>V | Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002319218 rs1576877805 CA354159453 |
771 | M>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002473164 rs199508583 CA2569813 RCV002319219 RCV001219131 |
772 | A>T | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003169060 RCV000824382 rs1336598166 CA354159481 |
772 | A>V | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA119495 RCV000008830 rs104893699 VAR_058078 |
773 | L>R | Autosomal dominant hypocalcemia 1 HYPOC1; the mutation shifts the concentration-response curve to the left and increases maximal activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_078175 | 774 | G>S | HHC1; decreased G-protein coupled receptor signaling pathway; does not affect cell membrane localization [UniProt] | Yes | UniProt |
|
CA354159517 rs767586088 RCV002232898 RCV003163248 |
775 | F>L | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001205834 rs2074936383 |
777 | I>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2074936560 RCV001323852 |
778 | G>D | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001054181 rs1479933693 RCV001847141 |
778 | G>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071263 RCV002489714 CA2569818 rs754332943 |
780 | T>I | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000497144 rs754332943 CA354159579 |
780 | T>N | Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA354159581 RCV002487640 rs754332943 RCV000792165 |
780 | T>S | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs371882068 RCV000809088 RCV002442708 RCV002268300 CA2569819 |
786 | I>V | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_058079 CA119509 RCV000008838 rs104893701 RCV001851748 |
788 | F>C | Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia HYPOC1; leftward shift in the concentration-response curve for the mutant receptor; cells cotransfected with both the wild-type and the mutant receptor show an EC(50) similar to the mutant; a gain-of-function mutation rendering the receptor more sensitive than normal to activation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs104893711 VAR_058080 RCV000008853 CA119529 |
788 | F>L | Autosomal dominant hypocalcemia 1 HYPOC1; induces a significant shift to the left relative to the wild-type protein in the MAPK response to increasing extracellular calcium concentrations [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs886041537 VAR_058080 CA10602865 RCV000322980 |
788 | F>L | HYPOC1; induces a significant shift to the left relative to the wild-type protein in the MAPK response to increasing extracellular calcium concentrations [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001199039 VAR_003599 RCV000517736 RCV000793559 CA119467 rs121909258 RCV000008810 |
795 | R>W | Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 HHC1; decreased G-protein coupled receptor signaling pathway [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001339311 rs866506433 |
797 | L>M | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002265771 RCV002465660 rs1060502856 CA16611130 RCV000474973 |
798 | P>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000803221 rs1060502856 CA354159698 |
798 | P>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001054005 RCV000991744 rs752953216 CA354159705 |
799 | E>D | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002451456 rs2074937924 RCV001210466 |
802 | N>D | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_078176 | 802 | N>I | HYPOC1; increased G-protein coupled receptor signaling pathway [UniProt] | Yes | UniProt |
|
RCV000700033 RCV000433842 VAR_078177 rs140022350 RCV002488902 CA2569822 |
802 | N>S | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 HHC1; decreased G-protein coupled receptor signaling pathway [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001219019 rs777219967 |
804 | A>T | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA119483 VAR_003600 rs104893693 RCV000008823 RCV002512921 |
806 | F>S | Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia HYPOC1; does not produce a significant activating effect; decreased cell surface receptor expression [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001035466 rs2074938402 |
809 | F>I | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2074938472 RCV001255963 |
810 | S>N | Autosomal dominant hypocalcemia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057521129 CA16604354 RCV000440135 RCV002519527 |
811 | M>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001062163 rs1385228926 CA354159796 |
812 | L>F | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000029443 CA213586 rs193922435 |
812 | L>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002451121 CA2569824 rs746541034 RCV002481454 RCV000470797 |
813 | I>V | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_078178 RCV000991745 RCV000415394 RCV001379697 CA16043395 RCV002488857 rs1057518933 |
817 | V>I | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Parathyroid gland adenoma HHC1; decreased G-protein coupled receptor signaling pathway [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001202613 rs1057518933 |
817 | V>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2074939020 RCV001420750 RCV001210240 |
820 | S>A | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA119527 RCV000008852 VAR_058081 rs104893710 |
820 | S>F | Autosomal dominant hypocalcemia 1 HYPOC1; the concentration-response curve of the mutant receptor is left-shifted and its EC(50) is significantly lower than that of the wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2074939089 RCV001304331 |
821 | F>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553769120 RCV001255710 RCV000519795 CA354159866 |
822 | I>T | Autosomal dominant hypocalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001239575 rs2074939118 |
822 | I>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001299945 rs2074939274 |
824 | A>G | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2074939465 RCV001222616 |
826 | A>G | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002451680 RCV001303147 rs2074939465 |
826 | A>V | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000184051 rs794729230 CA203861 RCV000987312 |
828 | T>P | Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs193922436 RCV000029444 CA213588 RCV001818185 |
830 | G>D | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078179 | 830 | G>S | HYPOC1 [UniProt] | Yes | UniProt |
| VAR_078180 | 832 | F>L | HYPOC1 [UniProt] | Yes | UniProt |
| VAR_078181 | 832 | F>S | HYPOC1 [UniProt] | Yes | UniProt |
|
RCV001049283 rs2074939751 RCV002497391 |
835 | A>T | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_078182 | 839 | I>T | HYPOC1; increased G-protein coupled receptor signaling pathway [UniProt] | Yes | UniProt |
|
CA354160143 rs1553769127 RCV000518668 RCV002527461 |
840 | A>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000054480 rs104893706 RCV000008847 CA119519 VAR_058082 |
843 | A>E | Autosomal dominant hypocalcemia 1 Bartter syndrome with hypocalcemia HYPOC1; also in HYPOC1 associated with clinical features of Bartter syndrome; shifts the concentration-response curve of calcium ions to the left [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2074940195 RCV001266561 |
844 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1576878096 CA354160190 RCV000797961 |
845 | S>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001213768 rs2074940343 |
849 | L>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2569831 RCV000518164 RCV003159659 rs373819680 RCV002527462 |
850 | A>E | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001149543 RCV002429668 RCV002482012 RCV001148002 RCV001148001 rs373819680 RCV002258114 RCV001148003 RCV001056128 |
850 | A>G | Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypoparathyroidism Familial hypocalciuric hypercalcemia Hereditary cancer-predisposing syndrome Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000516920 RCV000801507 rs1418475623 CA354160258 RCV002319014 |
850 | A>T | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002431599 VAR_003601 rs200777304 CA2569832 RCV000535785 RCV002476146 |
851 | C>S | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001062046 rs2074940685 |
853 | F>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs565491972 RCV001237235 |
854 | F>I | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215543 rs2074940832 RCV002429917 |
855 | N>S | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001335285 RCV001871870 rs766445416 |
857 | I>N | Neonatal severe primary hyperparathyroidism Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002424745 RCV000815218 RCV000733150 CA2569834 RCV002485926 rs766445416 |
857 | I>T | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000805310 CA354160323 rs1576878156 |
859 | I>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2074941334 RCV001216429 |
861 | L>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2569836 RCV002424417 RCV000639469 rs201328344 |
862 | F>S | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2074941438 RCV001302670 |
865 | S>C | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2074941438 RCV001320894 |
865 | S>F | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354160372 rs1576878170 RCV000817704 RCV002433995 |
866 | R>C | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002440263 CA2569837 rs387907401 RCV000639460 |
866 | R>H | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs387907401 RCV000054619 RCV002514275 CA216128 |
866 | R>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1553769144 RCV002233476 CA658796355 |
866 | R>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA354160373 RCV002231737 rs387907401 |
866 | R>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001244531 rs2074941878 RCV001545975 RCV002430037 |
873 | R>C | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354160443 rs1576878212 RCV000794486 |
876 | T>I | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553769153 RCV002232608 CA354160457 |
879 | H>D | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000844892 rs1576878230 CA354160463 |
879 | H>Q | Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000516951 rs763865303 CA354160464 RCV002431476 |
880 | A>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000808986 rs763865303 RCV002453824 RCV002501095 CA2569839 |
880 | A>S | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA119515 RCV000549191 rs104893704 VAR_058083 RCV000008842 |
881 | F>L | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 probable disease-associated variant found in a patient with hypercalciuric hypercalcemia; mutant CASR has a right-shifted dose-response to extracellular calcium concentrations; activated by a higher calcium concentrations than the wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs193922437 CA213590 RCV000029445 |
882 | K>* | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA354160479 rs1553769162 RCV002231380 |
882 | K>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000694836 RCV000664400 CA16604355 RCV000443461 rs1057520791 |
886 | R>P | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002429607 RCV001045438 rs1057520791 CA354160502 RCV001779107 |
886 | R>Q | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002268449 RCV001204429 VAR_058084 rs1559969429 |
886 | R>W | Familial hypocalciuric hypercalcemia HHC1 [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
rs1576878270 RCV002434002 RCV000818767 |
889 | L>missing | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2569841 RCV000804124 rs548127959 |
890 | R>C | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000460686 RCV002429522 RCV002481452 rs567996888 CA2569842 |
890 | R>H | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001036127 rs1360294910 RCV001196714 CA354160525 |
891 | R>C | Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000467153 rs533567836 RCV001764432 CA2569843 |
891 | R>H | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1392921552 RCV000538456 RCV002431600 RCV002483413 CA354160539 |
893 | N>D | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs200883282 RCV002431601 RCV002231738 CA354160546 RCV002491011 |
894 | V>I | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs200883282 RCV001231828 RCV002436907 |
894 | V>L | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002431602 CA354160555 rs1553769171 RCV000527239 |
895 | S>C | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553769169 RCV000008841 |
895 | S>missing | Autosomal dominant hypocalcemia 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001731316 rs193922438 RCV001852589 |
896 | R>missing | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000468483 RCV002480419 CA16611132 rs773552397 RCV002319003 |
896 | R>H | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs897282559 RCV002319254 CA82749167 |
897 | K>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121909269 VAR_060208 RCV000687562 CA119549 RCV002476948 RCV002433450 RCV000008864 |
898 | R>Q | Epilepsy, idiopathic generalized, susceptibility to, 8 Epilepsy, idiopathic generalized, susceptibility to, 8 (eig8) Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases EIG8 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs201919386 CA2569850 RCV002458442 RCV000798400 |
899 | S>P | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001328099 rs2074943924 |
904 | G>R | Familial hypokalemia-hypomagnesemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354160613 RCV002233705 rs1559969541 |
905 | S>F | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200357435 RCV001042975 |
906 | T>K | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA82749186 RCV002424668 rs200357435 RCV002233325 |
906 | T>M | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA354160631 RCV002233616 rs1559969557 |
909 | T>A | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs201067523 RCV001218174 |
909 | T>N | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354160638 rs1219288084 RCV000793755 |
910 | P>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001059998 CA354160651 rs1366210816 RCV002436636 |
912 | S>F | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2074944863 RCV001047284 |
914 | I>T | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071403 CA2569859 rs755629322 |
921 | E>K | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000692774 rs201517907 RCV000987313 RCV002440460 CA2569861 RCV000998129 |
923 | P>A | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs778591886 CA2569863 RCV001338923 |
924 | F>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001762164 RCV000054620 RCV000225899 rs200263975 RCV002318947 CA216130 |
926 | Q>R | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000818328 RCV003166375 rs1576878469 |
927 | P>missing | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001302792 rs2074945839 |
930 | Q>E | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002232781 CA2569866 rs746005172 |
931 | K>Q | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2074946020 RCV002499592 RCV001309963 RCV002437061 |
935 | P>missing | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001312644 rs201950717 CA82749263 |
935 | P>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs201449422 RCV000818154 RCV002319590 CA82749257 |
935 | P>T | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1379368670 CA354160813 RCV001038006 |
936 | L>Q | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2074946372 RCV001303788 |
938 | L>I | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1576878568 RCV001350099 |
940 | Q>* | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1576878568 RCV002319614 CA354160832 |
940 | Q>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1293909274 RCV002486114 CA354160835 RCV002437004 RCV001295093 |
940 | Q>P | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002257650 RCV000275318 RCV000616813 RCV002319480 rs76327999 RCV002488736 CA2569870 RCV000386160 RCV000319319 RCV000463497 RCV000332693 |
942 | E>K | Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypoparathyroidism Hereditary cancer-predisposing syndrome Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
rs747740545 RCV000799062 RCV002440663 |
946 | Q>missing | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001038775 rs2074946815 |
947 | P>missing | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767292478 RCV000805275 CA354160890 |
947 | P>H | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs4987051 RCV000639427 CA82749313 VAR_020220 |
951 | P>T | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001209695 rs2074947445 |
955 | R>* | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs866599196 RCV002232612 CA82749315 |
955 | R>Q | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002233322 rs1559969778 CA354160939 |
956 | S>A | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001244286 rs2074947543 |
956 | S>Y | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003144170 CA2569883 RCV002433955 RCV000228722 rs150979829 |
957 | Q>R | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001347348 rs2074947724 |
958 | Q>K | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1352202616 CA354160967 RCV000639461 RCV002440264 |
960 | P>S | Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001036978 RCV002434432 rs2074947830 |
961 | R>G | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000456724 RCV002436445 CA16611133 rs1060502859 |
963 | K>N | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001326049 rs2074948026 |
964 | Q>E | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001226869 rs1251254766 |
965 | K>N | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2074948607 RCV001068048 |
969 | G>missing | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000664401 RCV002319481 VAR_078183 RCV000711038 RCV000345436 CA2569889 RCV000383567 RCV000525899 RCV000288087 rs200620134 |
972 | T>M | Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypoparathyroidism Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases HHC1; decreased G-protein coupled receptor signaling pathway [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs774943243 RCV002233594 CA2569891 |
974 | T>I | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1268294939 RCV002438718 RCV001317649 CA354161098 |
980 | D>N | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs766653315 RCV003145374 RCV001204683 CA82749358 |
981 | E>G | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs766653315 RCV001214581 |
981 | E>V | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354161113 RCV001213977 rs387907395 |
982 | P>T | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs878853975 CA10582123 RCV000231567 |
983 | Q>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA354161129 RCV002231740 rs1553769261 |
984 | K>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000343555 RCV000405678 RCV002336079 RCV000356249 RCV000152933 rs1801725 CA119531 VAR_014450 RCV000299158 RCV001510800 RCV001269361 RCV000008854 |
986 | A>S | Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypoparathyroidism Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases associated with high serum level of calcium; is also a potential predisposing factor in disorders of bone and mineral metabolism [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1801725 RCV001341351 |
986 | A>T | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2074949750 RCV001319353 |
987 | M>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_060209 | 988 | A>G | EIG8; patients present juvenile myoclonus epilepsy [UniProt] | Yes | UniProt |
|
rs759027000 VAR_060210 CA2569899 |
988 | A>V | EIG8; patients present juvenile myoclonus epilepsy [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV001514193 RCV000987314 RCV000179296 rs1042636 RCV002336440 RCV000312165 RCV000276967 RCV000394192 VAR_020221 CA203219 |
990 | R>G | Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypoparathyroidism Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases associated with low serum level of calcium [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA354161172 RCV003153706 rs1553769276 |
991 | N>H | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002438354 CA2569901 rs758227966 RCV002231741 |
993 | T>M | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1559969980 CA354161192 RCV000693054 RCV002493182 |
994 | H>Y | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002231742 RCV002438355 CA82749393 rs201341173 |
995 | Q>H | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2074950435 RCV001306313 |
996 | N>H | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002561152 RCV001204290 rs1244383237 CA354161217 |
997 | S>C | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA354161216 RCV000793750 rs1244383237 |
997 | S>Y | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002438356 RCV002231743 rs201052958 CA82749408 |
999 | E>A | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs201052958 RCV001217729 CA354161227 |
999 | E>G | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001297592 rs2074950648 |
999 | E>K | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000639428 rs1176923284 CA354161239 |
1001 | Q>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1467916973 CA354161244 RCV000800179 |
1002 | K>Q | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001302899 rs2074950882 |
1003 | S>N | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs780255825 RCV001337897 |
1004 | S>C | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs780255825 RCV002231744 CA2569905 |
1004 | S>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs201990892 RCV002231745 CA354161267 |
1005 | D>H | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000543588 rs201990892 RCV002489155 RCV000480370 RCV002356780 CA2569906 |
1005 | D>N | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1381478610 RCV002436663 CA354161274 RCV001066657 |
1006 | T>A | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001326212 rs200238591 CA82749437 RCV002438748 |
1007 | L>Q | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA354161287 RCV001820012 rs1256856876 RCV001321440 |
1009 | R>* | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001043732 rs1256856876 CA354161288 RCV002436564 |
1009 | R>G | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2569912 RCV001055297 rs761030318 |
1009 | R>Q | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1801726 RCV000229426 RCV000517399 |
1011 | E>= | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001723718 CA179846 RCV001554703 RCV001554704 RCV000152934 RCV001519672 RCV001554828 rs1801726 VAR_014451 |
1011 | E>Q | Neonatal severe primary hyperparathyroidism Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1576879134 CA354161306 RCV000822024 |
1012 | P>Q | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002438357 RCV002231381 CA2569918 rs763977493 |
1012 | P>T | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001376143 CA82749487 rs202219108 RCV000711039 RCV000795756 |
1014 | L>F | Autosomal dominant hypocalcemia 1 Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2074952162 RCV001064392 |
1015 | P>missing | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs755151413 CA2569923 RCV001208896 |
1016 | L>P | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000469103 RCV001527058 CA16611138 RCV002446824 rs1060502848 |
1019 | G>R | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002446825 RCV000471560 CA16611098 rs1060502858 |
1020 | E>Q | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001233684 rs759009566 |
1021 | T>M | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2569929 rs776184769 RCV000816419 RCV002319589 |
1027 | V>I | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2074953171 RCV001222416 |
1028 | Q>R | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2074953253 RCV001307538 |
1030 | T>A | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201739901 CA82749549 RCV002322278 RCV001340731 |
1031 | G>D | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000987315 RCV002381263 RCV001085495 RCV000503233 CA213597 RCV000639501 rs142704083 |
1031 | G>S | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002386223 RCV000697929 rs762383457 CA2569932 |
1035 | P>S | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764032437 RCV000811303 RCV002325582 CA2569933 |
1038 | G>R | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1007139212 RCV001308673 |
1040 | Q>* | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001205522 CA82749561 RCV002497698 rs1007139212 |
1040 | Q>E | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2569934 rs761580803 RCV002232884 |
1041 | R>Q | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA174089 RCV000149000 RCV002381461 RCV000704147 rs193921082 |
1041 | R>W | Malignant tumor of prostate Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2074953862 RCV001347082 |
1042 | P>A | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001202822 rs2074954067 |
1045 | E>K | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001370810 rs878853977 CA10582125 RCV003165604 RCV000232843 |
1046 | D>E | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001229786 CA2569940 rs758535387 |
1048 | E>K | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA354161648 RCV001059824 rs1245761983 |
1055 | V>I | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2074954670 RCV001201432 |
1056 | V>L | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000639452 rs1553769334 CA354161672 |
1057 | S>T | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001317613 rs2074954886 |
1058 | S>G | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001299688 rs2074954983 |
1061 | S>N | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2569945 RCV000558070 RCV002323964 rs185453682 |
1065 | S>G | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002325539 CA82749637 RCV000801239 rs999978032 |
1065 | S>N | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000698591 rs1193543664 CA354161772 |
1068 | G>D | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA82749645 RCV002322165 RCV001248249 rs557676527 |
1070 | T>S | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002442624 RCV000794573 CA354161788 rs1576879357 |
1071 | V>I | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001316665 rs2074955500 |
1074 | N>missing | Familial hypocalciuric hypercalcemia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000536379 RCV002497121 rs775066593 RCV002448682 CA2569947 |
1074 | N>D | Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001352523 rs748855270 RCV002447442 |
1075 | V>I | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002320263 CA2569948 RCV001046019 rs748855270 CA354161816 |
1075 | V>L | Familial hypocalciuric hypercalcemia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA354361963 rs1381043518 |
7 | C>W | No |
ClinGen gnomAD |
|
|
rs1327682547 CA354361980 |
10 | L>V | No |
ClinGen gnomAD |
|
|
rs201731619 CA82607426 |
13 | L>F | No |
ClinGen Ensembl |
|
|
CA2569407 rs769932724 |
16 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs749748004 CA2569409 |
18 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs979596307 CA82607482 |
24 | Q>E | No |
ClinGen Ensembl |
|
|
rs568902441 CA82607490 |
25 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354362086 rs1451989725 |
27 | Q>P | No |
ClinGen gnomAD |
|
| VAR_065198 | 27 | Q>R | found in a patient with primary hyperparathyroidism detected at adulthood; mutant CASR is activated by a higher calcium concentrations than the wild-type [UniProt] | No | UniProt |
|
rs1290990935 CA354362096 |
28 | K>N | No |
ClinGen gnomAD |
|
|
rs1553765889 RCV000517631 CA354362108 |
30 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs765124679 CA2569418 |
31 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA16617811 rs1064795924 RCV000478034 |
31 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs121909262 CA82607564 |
39 | P>S | No |
ClinGen Ensembl |
|
|
CA2569423 rs779995504 |
45 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA354362201 rs1576852270 |
45 | A>T | No |
ClinGen Ensembl |
|
|
rs1329833347 CA354362203 |
46 | A>T | No |
ClinGen gnomAD |
|
|
rs1212959682 CA354362228 |
49 | Q>R | No |
ClinGen gnomAD |
|
|
rs1174370617 CA354362236 |
50 | D>G | No |
ClinGen gnomAD |
|
|
rs1250155407 CA354362277 |
56 | E>D | No |
ClinGen gnomAD |
|
|
rs772906030 CA2569429 |
60 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA354362335 rs1414007336 |
62 | R>S | No |
ClinGen gnomAD |
|
|
rs1291192328 CA354362340 |
63 | Y>C | No |
ClinGen gnomAD |
|
|
RCV000518194 rs1553766217 CA354362366 |
67 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA354362381 rs1313627454 |
69 | R>C | No |
ClinGen TOPMed |
|
|
rs1275539972 CA354362505 |
86 | A>S | No |
ClinGen gnomAD |
|
|
rs1485465529 CA354362513 |
87 | L>P | No |
ClinGen gnomAD |
|
|
CA354362515 rs1553766227 RCV000516422 |
88 | L>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs775628717 CA2569452 |
89 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370844938 CA354362575 |
97 | I>M | No |
ClinGen gnomAD |
|
|
rs1433686492 CA354362592 |
100 | T>A | No |
ClinGen gnomAD |
|
|
rs754033243 CA2569457 |
101 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1559956616 RCV000734689 |
108 | L>missing | No |
ClinVar dbSNP |
|
|
rs868732014 CA82609978 |
109 | E>K | No |
ClinGen Ensembl |
|
|
CA354362770 RCV000517968 rs1553766257 |
126 | D>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2569466 rs745525043 |
140 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA354362868 rs1085307643 RCV000489392 |
141 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2569468 rs775112705 |
144 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA354362918 rs1559956735 RCV000998127 |
150 | S>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2569472 rs761519187 |
152 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427023762 CA354362947 |
155 | N>S | No |
ClinGen gnomAD |
|
|
rs767329910 CA82610175 |
159 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA82610184 rs1044167719 |
162 | I>L | No |
ClinGen Ensembl |
|
|
rs1411829219 CA354150705 |
165 | V>I | No |
ClinGen TOPMed |
|
|
CA354150714 rs1417148850 |
166 | S>T | No |
ClinGen gnomAD |
|
|
rs1064795096 RCV000486088 CA16617812 |
167 | Y>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1440698174 CA354150770 |
175 | S>N | No |
ClinGen TOPMed |
|
|
rs752076655 CA2569500 |
175 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2569502 rs762352492 |
176 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA82738217 rs911063473 |
178 | N>K | No |
ClinGen Ensembl |
|
|
CA354150833 RCV000518317 rs1553766716 |
184 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000711044 rs104893689 CA354150836 |
185 | R>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs754602260 CA2569507 |
187 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs778535491 CA2569508 |
188 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA354150888 rs1453028781 |
193 | Q>L | No |
ClinGen TOPMed |
|
|
rs1422015826 CA354150898 |
195 | T>A | No |
ClinGen gnomAD |
|
|
CA354150906 rs1553766728 RCV000517481 |
196 | A>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs774235352 CA82738267 |
197 | M>T | No |
ClinGen Ensembl |
|
|
rs770651757 CA2569513 |
201 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA354150945 rs1430623191 |
202 | E>Q | No |
ClinGen gnomAD |
|
|
CA82738292 rs902590226 |
209 | V>A | No |
ClinGen Ensembl |
|
|
CA82738297 rs200004528 |
210 | G>D | No |
ClinGen Ensembl |
|
|
CA10602862 RCV000302361 rs886041155 |
217 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1057520583 RCV000427154 CA16604347 |
218 | Y>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA354151111 RCV000489801 rs1085307984 |
227 | R>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs199887150 CA2569523 |
235 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA82738383 rs200878437 |
240 | S>G | No |
ClinGen Ensembl |
|
|
rs757775389 CA2569526 |
240 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA16617815 rs1064794676 RCV000481329 |
242 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA354151221 rs1317990764 |
243 | I>L | No |
ClinGen gnomAD |
|
|
rs895337411 CA82738393 |
246 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA82738406 rs201840633 |
247 | S>P | No |
ClinGen Ensembl |
|
|
CA354151272 rs1256348744 |
250 | E>G | No |
ClinGen gnomAD |
|
|
CA2569530 rs768891713 |
253 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA2569532 rs748264118 |
257 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2569533 rs771989281 |
258 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs201456938 CA2569536 |
263 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1287902533 CA354151392 |
269 | V>I | No |
ClinGen TOPMed |
|
|
rs764943919 CA2569539 |
272 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1005301601 CA82738561 |
274 | P>L | No |
ClinGen Ensembl |
|
|
rs1553766794 RCV000516736 |
275 | D>missing | No |
ClinVar dbSNP |
|
|
CA354151432 rs1559959206 |
275 | D>Y | No |
ClinGen Ensembl |
|
|
rs200554202 CA82738571 |
277 | E>K | No |
ClinGen Ensembl |
|
|
rs200554202 CA82738575 |
277 | E>Q | No |
ClinGen Ensembl |
|
|
CA354151451 rs1301893790 |
278 | P>A | No |
ClinGen TOPMed |
|
|
CA2569543 rs763511178 |
279 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs200039241 CA2569546 |
285 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354151519 rs755840531 |
289 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs773142330 CA2569552 |
293 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA354151554 rs1289972038 |
295 | A>T | No |
ClinGen gnomAD |
|
|
CA354151598 rs1264867619 |
301 | S>T | No |
ClinGen TOPMed |
|
|
CA354151619 rs1222589561 |
304 | L>P | No |
ClinGen gnomAD |
|
|
rs140920534 CA2569559 |
305 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA354151634 rs1482188377 |
307 | M>L | No |
ClinGen gnomAD |
|
|
CA354151640 rs1252951509 |
308 | P>A | No |
ClinGen gnomAD |
|
|
CA2569562 rs756720041 |
308 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA354151639 rs1252951509 |
308 | P>T | No |
ClinGen gnomAD |
|
|
rs1180573506 CA354151644 |
309 | Q>* | No |
ClinGen gnomAD |
|
|
CA354151656 RCV000998128 rs867475575 |
310 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA82738659 rs867475575 |
310 | Y>F | No |
ClinGen Ensembl |
|
|
rs779711318 CA2569566 |
318 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA354151799 rs753011255 |
320 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1382062409 CA354151845 |
323 | K>T | No |
ClinGen TOPMed |
|
|
CA2569568 rs758569521 |
324 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82738718 rs193922444 |
325 | G>A | No |
ClinGen TOPMed |
|
|
CA2569569 rs778100486 |
325 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA354151974 rs1464591113 |
330 | F>C | No |
ClinGen gnomAD |
|
|
rs747090029 CA354151992 |
331 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2569576 rs763332718 |
338 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1275827144 CA354152111 |
338 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| VAR_065201 | 339 | P>T | mutation found in a patient with primary hyperparathyroidism detected at adulthood; inactivating mutation; mutant CASR is activated by a higher calcium concentrations than the wild-type [UniProt] | No | UniProt |
|
rs768228172 CA82738770 |
340 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354152181 rs1189413587 |
341 | K>R | No |
ClinGen gnomAD |
|
|
CA2569582 rs760506005 |
345 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766289309 CA2569583 |
345 | N>K | No |
ClinGen ExAC |
|
|
CA354152254 rs1390562571 |
345 | N>S | No |
ClinGen gnomAD |
|
|
CA82738822 rs1046586354 |
355 | T>I | No |
ClinGen Ensembl |
|
|
CA216116 rs387907392 RCV000054613 |
357 | N>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2569587 rs751813138 |
360 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2569590 rs746438858 |
366 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA354152588 rs1482267551 |
367 | P>H | No |
ClinGen TOPMed |
|
|
CA2569591 rs534100808 |
367 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2569595 rs571007208 |
372 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354152664 rs1189291559 |
379 | E>K | No |
ClinGen gnomAD |
|
|
CA354152690 rs1458949348 |
383 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs765116594 CA2569603 |
387 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1277010189 CA354152725 |
387 | S>R | No |
ClinGen gnomAD |
|
|
rs1559959758 CA354152750 RCV000760418 |
392 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA354152783 rs1210105383 |
397 | G>V | No |
ClinGen gnomAD |
|
|
rs202101164 CA354152787 |
398 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1255825937 CA354152799 |
400 | N>D | No |
ClinGen Ensembl |
|
|
rs779219555 CA2569613 |
403 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs977386230 CA82739012 |
407 | P>A | No |
ClinGen TOPMed |
|
|
rs2074636776 RCV001280589 |
408 | Y>C | No |
ClinVar dbSNP |
|
|
rs1409742096 CA354152863 |
409 | I>T | No |
ClinGen gnomAD |
|
|
rs1195244507 CA354152903 |
415 | R>W | No |
ClinGen TOPMed |
|
|
rs1409659640 CA354152950 |
422 | L>V | No |
ClinGen gnomAD |
|
|
CA82739075 rs201520875 |
430 | A>T | No |
ClinGen TOPMed |
|
|
rs199511990 CA2569621 |
433 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1375250506 CA354153029 |
434 | I>T | No |
ClinGen TOPMed |
|
|
CA354153033 rs1204242077 |
435 | Y>H | No |
ClinGen gnomAD |
|
|
rs1553766916 CA354153044 |
436 | T>N | No |
ClinGen Ensembl |
|
|
rs1390306952 CA354153093 |
440 | G>R | No |
ClinGen TOPMed |
|
|
rs1230573005 CA354153113 |
441 | R>K | No |
ClinGen gnomAD |
|
|
rs1471887387 CA354153177 |
445 | T>I | No |
ClinGen gnomAD |
|
|
CA354153263 rs1429310654 |
450 | A>V | No |
ClinGen gnomAD |
|
|
CA2569625 rs540006567 |
451 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1029613003 CA82739149 |
454 | K>E | No |
ClinGen TOPMed |
|
|
rs1202070702 CA354154809 |
463 | H>Y | No |
ClinGen gnomAD |
|
|
CA2569650 rs778165189 |
464 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354154832 rs104893716 |
465 | R>L | No |
ClinGen TOPMed |
|
|
rs760939658 CA2569653 |
466 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2569652 rs756954901 |
466 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA354154877 rs1376231303 |
469 | F>C | No |
ClinGen gnomAD |
|
|
rs575371072 CA2569654 |
469 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780202937 CA2569656 |
476 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs749234678 CA2569657 |
477 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA82745923 rs200878340 |
479 | F>L | No |
ClinGen Ensembl |
|
|
rs1382392248 CA354155046 |
481 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs761468327 CA354155059 |
482 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559965137 CA354155112 RCV000722840 |
487 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2569665 rs753238660 |
491 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA354155185 rs201076546 |
493 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs763490474 CA2569666 |
496 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA354155223 rs1471885969 |
499 | E>G | No |
ClinGen gnomAD |
|
|
CA354155228 rs1156349993 |
500 | D>N | No |
ClinGen gnomAD |
|
|
rs1454001042 CA354155242 |
502 | S>P | No |
ClinGen gnomAD |
|
|
rs750090892 CA2569671 |
506 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs755752235 CA2569672 |
508 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs866241407 CA82745990 |
513 | V>I | No |
ClinGen Ensembl |
|
|
rs1244344932 CA354155351 |
515 | A>T | No |
ClinGen gnomAD |
|
|
rs778647030 CA2569675 |
517 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2569678 rs776904675 |
520 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746054548 CA354155443 |
522 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2569679 rs746054548 |
522 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746054548 CA354155445 |
522 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200470956 CA82746024 |
525 | E>G | No |
ClinGen Ensembl |
|
|
rs201568219 CA82746030 |
526 | E>K | No |
ClinGen Ensembl |
|
|
rs1260540509 CA354155551 |
530 | W>* | No |
ClinGen TOPMed |
|
|
CA2569683 rs764669682 |
531 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA354155586 rs1343106554 |
535 | R>M | No |
ClinGen gnomAD |
|
|
CA2569685 rs762299355 |
535 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1250951106 CA354156112 |
537 | V>M | No |
ClinGen TOPMed |
|
|
rs766140790 CA2569714 |
539 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs115230894 CA2569717 |
544 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354156159 rs1188078024 |
545 | D>N | No |
ClinGen gnomAD |
|
|
CA2569719 rs200647941 |
548 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs186279271 CA82747988 |
556 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000498268 rs1553768726 CA354156245 |
558 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2569722 rs193922425 |
559 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs749467949 CA354156254 |
560 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2569724 rs768820665 |
560 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs749467949 CA2569723 |
560 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs868390788 CA82748010 |
567 | E>K | No |
ClinGen Ensembl |
|
|
rs1271168512 CA354156318 |
569 | P>S | No |
ClinGen gnomAD |
|
|
CA82748525 rs953883288 |
579 | A>V | No |
ClinGen Ensembl |
|
|
RCV000443881 CA16604350 rs1057523748 |
584 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1284603229 CA354157152 |
584 | K>R | No |
ClinGen gnomAD |
|
|
rs1270715219 CA354157227 |
588 | D>E | No |
ClinGen gnomAD |
|
|
CA354157242 rs1465788605 |
589 | F>L | No |
ClinGen TOPMed |
|
|
CA354157231 RCV000517200 rs1553768892 |
589 | F>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1270383585 CA354157257 |
590 | W>* | No |
ClinGen TOPMed |
|
|
rs1181277275 CA354157297 |
593 | E>G | No |
ClinGen gnomAD |
|
|
rs866988361 CA82748532 |
593 | E>K | No |
ClinGen Ensembl |
|
|
CA2569743 rs539831588 |
594 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354157349 rs1348036340 |
596 | T>I | No |
ClinGen TOPMed |
|
|
rs943822017 CA82748543 |
600 | A>D | No |
ClinGen Ensembl |
|
|
CA82748562 rs867401238 |
608 | W>* | No |
ClinGen Ensembl |
|
|
CA16604428 rs1057520557 RCV000429289 |
610 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs868214049 CA82748568 |
611 | P>L | No |
ClinGen Ensembl |
|
|
CA82748578 rs1046826788 |
614 | I>T | No |
ClinGen TOPMed |
|
|
rs768660050 CA82748585 |
615 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1553768938 RCV000517648 |
617 | T>missing | No |
ClinVar dbSNP |
|
|
CA354157617 rs1355236719 |
617 | T>A | No |
ClinGen gnomAD |
|
|
CA354157893 rs1182680081 |
634 | F>V | No |
ClinGen gnomAD |
|
|
rs1236939418 CA354157917 |
635 | I>M | No |
ClinGen gnomAD |
|
|
rs779019180 CA2569759 |
636 | K>E | No |
ClinGen ExAC gnomAD |
|
|
RCV000991740 rs1576877163 |
639 | N>missing | No |
ClinVar dbSNP |
|
|
CA82748631 rs200113544 |
646 | T>A | No |
ClinGen Ensembl |
|
|
CA2569762 rs104893705 |
648 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2569763 rs757736220 |
648 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354158089 rs1483325249 |
649 | E>Q | No |
ClinGen gnomAD |
|
|
CA354158171 rs1428632632 |
655 | L>V | No |
ClinGen TOPMed |
|
|
CA82748682 rs111733898 |
662 | F>L | No |
ClinGen Ensembl |
|
|
CA354158247 rs1373907702 |
663 | S>Y | No |
ClinGen TOPMed |
|
|
rs1576877328 CA354158342 |
677 | C>S | No |
ClinGen Ensembl |
|
|
CA354158379 rs1449068520 |
683 | A>V | No |
ClinGen gnomAD |
|
|
CA2569777 rs758712301 |
688 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1467832380 CA354158423 |
690 | L>F | No |
ClinGen gnomAD |
|
|
rs751692522 CA2569779 |
695 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1576877427 RCV000991742 |
700 | N>missing | No |
ClinVar dbSNP |
|
|
RCV000517673 rs1553769004 |
701 | R>missing | No |
ClinVar dbSNP |
|
|
CA354158545 rs757302986 |
701 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756476394 CA2569783 |
713 | S>G | No |
ClinGen ExAC |
|
|
CA354158753 rs1372467536 |
715 | H>P | No |
ClinGen TOPMed |
|
|
rs768333005 CA2569786 |
716 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1409864955 CA354158785 |
717 | K>R | No |
ClinGen TOPMed |
|
|
rs1064793353 RCV000479940 |
718 | W>missing | No |
ClinVar dbSNP |
|
|
rs961879608 CA82748772 |
718 | W>L | No |
ClinGen TOPMed |
|
|
RCV000681941 rs1559968729 |
722 | N>missing | No |
ClinVar dbSNP |
|
|
CA2569789 rs771601139 |
722 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA354158946 rs1429327115 |
730 | L>I | No |
ClinGen gnomAD |
|
|
CA354159015 RCV000518562 rs1553769052 |
735 | Q>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs760635825 CA2569791 |
736 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2569803 rs778597649 |
749 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA2569806 rs777361297 |
754 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1296483005 CA354159254 |
758 | D>N | No |
ClinGen TOPMed |
|
|
CA2569808 rs145209598 |
764 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200723499 CA82748902 |
766 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1223685835 CA354159542 |
777 | I>T | No |
ClinGen gnomAD |
|
|
rs1479933693 CA354159548 |
778 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2569817 rs766889439 |
779 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1576877850 CA354159562 |
779 | Y>S | No |
ClinGen Ensembl |
|
|
rs1576877856 CA354159577 |
780 | T>P | No |
ClinGen Ensembl |
|
|
CA354159600 rs1182539562 |
783 | L>Q | No |
ClinGen gnomAD |
|
|
rs549975115 CA82748943 |
795 | R>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
CA354159694 RCV000991743 rs1576877924 |
798 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2569823 rs777219967 |
804 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs104893693 CA82748962 |
806 | F>Y | No |
ClinGen Ensembl |
|
|
rs1576877961 CA354159764 |
808 | T>P | No |
ClinGen Ensembl |
|
|
CA354159831 rs1223501521 |
817 | V>A | No |
ClinGen TOPMed |
|
|
CA354159840 rs1576878011 RCV000991746 |
818 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs745768572 CA2569827 |
819 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA354159983 rs1576878027 RCV000845022 |
823 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2569829 rs775380024 |
825 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354160081 rs1187496835 |
833 | V>I | No |
ClinGen gnomAD |
|
|
rs1439305102 CA354160090 |
834 | S>F | No |
ClinGen TOPMed |
|
|
CA82749017 rs927218027 |
842 | L>M | No |
ClinGen Ensembl |
|
|
CA354160179 rs1394440820 |
844 | A>T | No |
ClinGen TOPMed |
|
|
CA16617819 RCV000479833 rs1064794621 |
847 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA354160261 rs373819680 |
850 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1576878133 RCV000991747 CA354160281 |
853 | F>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs565491972 CA82749042 |
854 | F>L | No |
ClinGen Ensembl |
|
|
CA2569835 rs754388450 |
858 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1057520646 CA16604790 RCV000441373 |
871 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1559969387 CA354160440 |
876 | T>P | No |
ClinGen Ensembl |
|
|
rs763865303 CA82749105 |
880 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA354160481 rs1303452989 |
882 | K>N | No |
ClinGen TOPMed |
|
|
CA354160487 rs1576878252 |
883 | V>G | No |
ClinGen Ensembl |
|
|
CA354160482 rs1163880808 |
883 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1576878266 CA354160510 |
888 | T>P | No |
ClinGen Ensembl |
|
|
rs200883282 CA2569845 |
894 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354160552 rs1174409041 |
895 | S>P | No |
ClinGen gnomAD |
|
|
rs749125441 CA2569847 |
896 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749125441 CA2569846 |
896 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773552397 CA2569848 |
896 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289794304 CA354160601 |
903 | G>A | No |
ClinGen gnomAD |
|
|
rs1289794304 CA354160600 |
903 | G>E | No |
ClinGen gnomAD |
|
|
rs759541734 CA2569851 |
904 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA2569852 rs765783352 |
907 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs775846848 CA2569853 |
908 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA82749192 rs201067523 |
909 | T>S | No |
ClinGen Ensembl |
|
|
rs751273631 CA2569855 |
913 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1263584702 CA354160686 |
917 | K>N | No |
ClinGen gnomAD |
|
|
CA82749202 rs200448504 |
919 | N>D | No |
ClinGen Ensembl |
|
|
rs1559969608 CA354160704 |
920 | S>G | No |
ClinGen Ensembl |
|
|
rs767241288 CA2569857 |
920 | S>N | No |
ClinGen ExAC |
|
|
rs749958063 CA2569858 |
920 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2569860 rs780100490 |
922 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA82749231 rs922534407 |
924 | F>S | No |
ClinGen TOPMed |
|
|
CA354160753 rs1346664029 |
928 | E>K | No |
ClinGen gnomAD |
|
|
rs1339777095 CA354160763 |
929 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs201950717 CA354160810 |
935 | P>Q | No |
ClinGen gnomAD |
|
|
CA2569868 rs776103561 |
937 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA354160824 rs1576878559 |
938 | L>P | No |
ClinGen Ensembl |
|
|
CA354160836 rs1293909274 |
940 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2569876 rs767292478 |
947 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs762202393 CA2569875 |
947 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2569877 rs750090767 |
948 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs765777573 CA2569879 |
949 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2569880 rs753866409 |
950 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs542434118 CA2569881 |
953 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs988523065 CA82749324 |
957 | Q>H | No |
ClinGen TOPMed |
|
|
CA2569884 rs758172766 |
962 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309620055 CA354160980 |
962 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2569886 rs781459531 |
967 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs200686461 CA354161041 |
970 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354161047 rs1270983908 |
971 | G>V | No |
ClinGen gnomAD |
|
|
CA216132 RCV000054621 rs387907396 |
974 | T>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA354161064 rs1369350273 |
975 | F>L | No |
ClinGen gnomAD |
|
|
RCV000054622 rs387907395 CA216134 |
982 | P>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs760226100 CA2569897 |
985 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA354161144 rs1268409560 |
986 | A>V | No |
ClinGen gnomAD |
|
|
CA82749374 rs549208559 |
988 | A>T | No |
ClinGen Ensembl |
|
|
rs1460157833 CA354161167 |
990 | R>K | No |
ClinGen gnomAD |
|
|
rs201957149 CA2569902 |
996 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1244383237 CA354161218 |
997 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs756322971 CA354161238 |
1001 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs756322971 CA2569904 |
1001 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
RCV000494302 rs1131691620 |
1004 | S>missing | No |
ClinVar dbSNP |
|
|
rs1436155766 CA354161263 |
1004 | S>N | No |
ClinGen TOPMed |
|
|
rs201990892 CA2569907 |
1005 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2569908 rs779634167 |
1006 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1400464805 CA354161278 |
1007 | L>M | No |
ClinGen gnomAD |
|
|
rs772618289 CA2569910 |
1008 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA2569913 rs761030318 |
1009 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs547957679 CA2569915 |
1010 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2569916 rs764694608 |
1010 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA82749469 rs386665242 |
1010 | H>QQ | No |
ClinGen Ensembl |
|
|
CA354161293 rs547957679 |
1010 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776330777 CA2569914 |
1010 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1801726 CA354161296 |
1011 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2569919 rs751317167 |
1013 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA2569920 rs202219108 |
1014 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766569230 CA2569921 |
1015 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2569924 rs779116209 |
1017 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA354161339 rs1302548254 |
1018 | C>S | No |
ClinGen gnomAD |
|
|
CA354161347 rs1060502858 |
1020 | E>K | No |
ClinGen TOPMed |
|
|
rs759009566 CA2569926 |
1021 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82749519 rs759009566 |
1021 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354161371 rs1348560550 |
1023 | L>F | No |
ClinGen gnomAD |
|
|
rs745510508 CA2569930 |
1027 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA354161398 rs1290267062 |
1028 | Q>* | No |
ClinGen gnomAD |
|
|
rs200786703 CA2569931 |
1029 | E>D | No |
ClinGen 1000Genomes ExAC |
|
|
CA354161443 rs1418162973 |
1035 | P>R | No |
ClinGen gnomAD |
|
|
CA216136 rs387907393 RCV000054623 |
1036 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA354161455 rs1330735873 |
1037 | G>V | No |
ClinGen gnomAD |
|
|
rs1381780241 CA354161461 |
1039 | D>H | No |
ClinGen gnomAD |
|
|
CA2569935 rs767315637 |
1043 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA354161523 rs1576879266 |
1044 | V>G | No |
ClinGen Ensembl |
|
|
CA2569938 rs765519865 |
1045 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs778207768 CA2569941 |
1051 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA82749616 rs200531901 |
1056 | V>A | No |
ClinGen Ensembl |
|
|
CA2569944 rs781635511 |
1063 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2569946 rs769439564 |
1066 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354161800 rs1239677065 |
1073 | E>K | No |
ClinGen gnomAD |
|
|
rs1182793884 CA354161813 |
1074 | N>K | No |
ClinGen gnomAD |
4 associated diseases with P41180
[MIM: 145980]: Hypocalciuric hypercalcemia, familial 1 (HHC1)
A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. {ECO:0000269|PubMed:11762699, ECO:0000269|PubMed:15572418, ECO:0000269|PubMed:15579740, ECO:0000269|PubMed:15879434, ECO:0000269|PubMed:16598859, ECO:0000269|PubMed:16740594, ECO:0000269|PubMed:17473068, ECO:0000269|PubMed:17698911, ECO:0000269|PubMed:19179454, ECO:0000269|PubMed:19789209, ECO:0000269|PubMed:21566075, ECO:0000269|PubMed:21643651, ECO:0000269|PubMed:22114145, ECO:0000269|PubMed:23169696, ECO:0000269|PubMed:23966241, ECO:0000269|PubMed:25104082, ECO:0000269|PubMed:25292184, ECO:0000269|PubMed:26386835, ECO:0000269|PubMed:27434672, ECO:0000269|PubMed:7673400, ECO:0000269|PubMed:7726161, ECO:0000269|PubMed:7916660, ECO:0000269|PubMed:8636323, ECO:0000269|PubMed:8702647, ECO:0000269|PubMed:8878438, ECO:0000269|PubMed:9298824}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 239200]: Hyperparathyroidism, neonatal severe (NSHPT)
A disorder characterized by severe hypercalcemia, bone demineralization, and failure to thrive usually manifesting in the first 6 months of life. If untreated, NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy. {ECO:0000269|PubMed:14985373, ECO:0000269|PubMed:15572418, ECO:0000269|PubMed:17555508, ECO:0000269|PubMed:27434672, ECO:0000269|PubMed:8675635, ECO:0000269|PubMed:8878438, ECO:0000269|PubMed:9253359}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 601198]: Hypocalcemia, autosomal dominant 1 (HYPOC1)
A disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include mild or asymptomatic hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. Few patients manifest hypocalcemia and features of Bartter syndrome, including hypomagnesemia, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronemia. {ECO:0000269|PubMed:10487661, ECO:0000269|PubMed:12050233, ECO:0000269|PubMed:12107202, ECO:0000269|PubMed:12241879, ECO:0000269|PubMed:12574188, ECO:0000269|PubMed:12915654, ECO:0000269|PubMed:15551332, ECO:0000269|PubMed:16608894, ECO:0000269|PubMed:19179454, ECO:0000269|PubMed:22789683, ECO:0000269|PubMed:23169696, ECO:0000269|PubMed:23966241, ECO:0000269|PubMed:25766501, ECO:0000269|PubMed:7874174, ECO:0000269|PubMed:8702647, ECO:0000269|PubMed:8733126, ECO:0000269|PubMed:8813042, ECO:0000269|PubMed:8878438, ECO:0000269|PubMed:9253358, ECO:0000269|PubMed:9661634, ECO:0000269|PubMed:9920108}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 612899]: Epilepsy, idiopathic generalized 8 (EIG8)
A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Seizure types are variable, but include myoclonic seizures, absence seizures, febrile seizures, complex partial seizures, and generalized tonic-clonic seizures. {ECO:0000269|PubMed:18756473}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Without disease ID
- A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. {ECO:0000269|PubMed:11762699, ECO:0000269|PubMed:15572418, ECO:0000269|PubMed:15579740, ECO:0000269|PubMed:15879434, ECO:0000269|PubMed:16598859, ECO:0000269|PubMed:16740594, ECO:0000269|PubMed:17473068, ECO:0000269|PubMed:17698911, ECO:0000269|PubMed:19179454, ECO:0000269|PubMed:19789209, ECO:0000269|PubMed:21566075, ECO:0000269|PubMed:21643651, ECO:0000269|PubMed:22114145, ECO:0000269|PubMed:23169696, ECO:0000269|PubMed:23966241, ECO:0000269|PubMed:25104082, ECO:0000269|PubMed:25292184, ECO:0000269|PubMed:26386835, ECO:0000269|PubMed:27434672, ECO:0000269|PubMed:7673400, ECO:0000269|PubMed:7726161, ECO:0000269|PubMed:7916660, ECO:0000269|PubMed:8636323, ECO:0000269|PubMed:8702647, ECO:0000269|PubMed:8878438, ECO:0000269|PubMed:9298824}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A disorder characterized by severe hypercalcemia, bone demineralization, and failure to thrive usually manifesting in the first 6 months of life. If untreated, NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy. {ECO:0000269|PubMed:14985373, ECO:0000269|PubMed:15572418, ECO:0000269|PubMed:17555508, ECO:0000269|PubMed:27434672, ECO:0000269|PubMed:8675635, ECO:0000269|PubMed:8878438, ECO:0000269|PubMed:9253359}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include mild or asymptomatic hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. Few patients manifest hypocalcemia and features of Bartter syndrome, including hypomagnesemia, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronemia. {ECO:0000269|PubMed:10487661, ECO:0000269|PubMed:12050233, ECO:0000269|PubMed:12107202, ECO:0000269|PubMed:12241879, ECO:0000269|PubMed:12574188, ECO:0000269|PubMed:12915654, ECO:0000269|PubMed:15551332, ECO:0000269|PubMed:16608894, ECO:0000269|PubMed:19179454, ECO:0000269|PubMed:22789683, ECO:0000269|PubMed:23169696, ECO:0000269|PubMed:23966241, ECO:0000269|PubMed:25766501, ECO:0000269|PubMed:7874174, ECO:0000269|PubMed:8702647, ECO:0000269|PubMed:8733126, ECO:0000269|PubMed:8813042, ECO:0000269|PubMed:8878438, ECO:0000269|PubMed:9253358, ECO:0000269|PubMed:9661634, ECO:0000269|PubMed:9920108}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Seizure types are variable, but include myoclonic seizures, absence seizures, febrile seizures, complex partial seizures, and generalized tonic-clonic seizures. {ECO:0000269|PubMed:18756473}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
6 regional properties for P41180
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Receptor, ligand binding region | 69 - 495 | IPR001828 |
| domain | GPCR, family 3, nine cysteines domain | 538 - 591 | IPR011500 |
| domain | GPCR family 3, C-terminal | 606 - 876 | IPR017978 |
| conserved_site | GPCR, family 3, conserved site | 153 - 171 | IPR017979-1 |
| conserved_site | GPCR, family 3, conserved site | 561 - 585 | IPR017979-2 |
| conserved_site | GPCR, family 3, conserved site | 801 - 811 | IPR017979-3 |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| axon terminus | Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal button is a specialized region of it. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| amino acid binding | Binding to an amino acid, organic acids containing one or more amino substituents. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| G protein-coupled receptor activity | Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
| identical protein binding | Binding to an identical protein or proteins. |
| integrin binding | Binding to an integrin. |
| phosphatidylinositol phospholipase C activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1,2-diacylglycerol + 1D-myo-inositol 1,4,5-trisphosphate + H(+). |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| 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. |
33 GO annotations of biological process
| Name | Definition |
|---|---|
| adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the inhibition of adenylyl cyclase activity and a subsequent decrease in the intracellular concentration of cyclic AMP (cAMP). |
| anatomical structure morphogenesis | The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| bile acid secretion | The regulated release of bile acid, composed of any of a group of steroid carboxylic acids occurring in bile, by a cell or a tissue. |
| branching morphogenesis of an epithelial tube | The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder. |
| calcium ion import | The directed movement of calcium ions into a cell or organelle. |
| cellular calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell. |
| 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 hepatocyte growth factor 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 hepatocyte growth factor stimulus. |
| cellular response to hypoxia | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| cellular response to low-density lipoprotein particle 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 low-density lipoprotein particle stimulus. |
| cellular response to peptide | 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 stimulus. |
| cellular response to vitamin D | 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 vitamin D stimulus. |
| chemosensory behavior | Behavior that is dependent upon the sensation of chemicals. |
| chloride transmembrane transport | The process in which chloride is transported across a membrane. |
| detection of calcium ion | The series of events in which a calcium ion stimulus is received by a cell and converted into a molecular signal. |
| fat pad development | The progression of a fat pad from its initial formation to its mature structure. A fat pad is an accumulation of adipose tissue. |
| G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
| JNK cascade | An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (a MAP3K). The cascade can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinases in the downstream tier to transmit a signal within a cell. |
| ossification | The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| phospholipase C-activating G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of phospholipase C (PLC) and a subsequent increase in the intracellular concentration of inositol trisphosphate (IP3) and diacylglycerol (DAG). |
| positive regulation of ATP-dependent activity | Any process that activates or increases the rate of an ATP-dependent activity. |
| positive regulation of calcium ion import | Any process that increases the rate, frequency, or extent of the directed movement of calcium ions into a cell or organelle. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| positive regulation of ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of insulin secretion | Any process that activates or increases the frequency, rate or extent of the regulated release of insulin. |
| positive regulation of positive chemotaxis | Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism towards a higher concentration in a concentration gradient of a specific chemical. |
| positive regulation of vasoconstriction | Any process that activates or increases the frequency, rate or extent of vasoconstriction. |
| regulation of calcium ion transport | Any process that modulates the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| response to fibroblast growth factor | 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 fibroblast growth factor stimulus. |
| response to ischemia | Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a inadequate blood supply. |
| vasodilation | An increase in the internal diameter of blood vessels, especially arterioles or capillaries, due to relaxation of smooth muscle cells that line the vessels, and usually resulting in a decrease in blood pressure. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O00222 | GRM8 | Metabotropic glutamate receptor 8 | Homo sapiens (Human) | PR |
| Q14416 | GRM2 | Metabotropic glutamate receptor 2 | Homo sapiens (Human) | PR |
| Q9QYS2 | Grm3 | Metabotropic glutamate receptor 3 | Mus musculus (Mouse) | PR |
| Q14BI2 | Grm2 | Metabotropic glutamate receptor 2 | Mus musculus (Mouse) | PR |
| P47743 | Grm8 | Metabotropic glutamate receptor 8 | Mus musculus (Mouse) | PR |
| Q3UVX5 | Grm5 | Metabotropic glutamate receptor 5 | Mus musculus (Mouse) | PR |
| P31422 | Grm3 | Metabotropic glutamate receptor 3 | Rattus norvegicus (Rat) | PR |
| P31421 | Grm2 | Metabotropic glutamate receptor 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAFYSCCWVL | LALTWHTSAY | GPDQRAQKKG | DIILGGLFPI | HFGVAAKDQD | LKSRPESVEC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IRYNFRGFRW | LQAMIFAIEE | INSSPALLPN | LTLGYRIFDT | CNTVSKALEA | TLSFVAQNKI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DSLNLDEFCN | CSEHIPSTIA | VVGATGSGVS | TAVANLLGLF | YIPQVSYASS | SRLLSNKNQF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KSFLRTIPND | EHQATAMADI | IEYFRWNWVG | TIAADDDYGR | PGIEKFREEA | EERDICIDFS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ELISQYSDEE | EIQHVVEVIQ | NSTAKVIVVF | SSGPDLEPLI | KEIVRRNITG | KIWLASEAWA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SSSLIAMPQY | FHVVGGTIGF | ALKAGQIPGF | REFLKKVHPR | KSVHNGFAKE | FWEETFNCHL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QEGAKGPLPV | DTFLRGHEES | GDRFSNSSTA | FRPLCTGDEN | ISSVETPYID | YTHLRISYNV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YLAVYSIAHA | LQDIYTCLPG | RGLFTNGSCA | DIKKVEAWQV | LKHLRHLNFT | NNMGEQVTFD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ECGDLVGNYS | IINWHLSPED | GSIVFKEVGY | YNVYAKKGER | LFINEEKILW | SGFSREVPFS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NCSRDCLAGT | RKGIIEGEPT | CCFECVECPD | GEYSDETDAS | ACNKCPDDFW | SNENHTSCIA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KEIEFLSWTE | PFGIALTLFA | VLGIFLTAFV | LGVFIKFRNT | PIVKATNREL | SYLLLFSLLC |
| 670 | 680 | 690 | 700 | 710 | 720 |
| CFSSSLFFIG | EPQDWTCRLR | QPAFGISFVL | CISCILVKTN | RVLLVFEAKI | PTSFHRKWWG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LNLQFLLVFL | CTFMQIVICV | IWLYTAPPSS | YRNQELEDEI | IFITCHEGSL | MALGFLIGYT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| CLLAAICFFF | AFKSRKLPEN | FNEAKFITFS | MLIFFIVWIS | FIPAYASTYG | KFVSAVEVIA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ILAASFGLLA | CIFFNKIYII | LFKPSRNTIE | EVRCSTAAHA | FKVAARATLR | RSNVSRKRSS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| SLGGSTGSTP | SSSISSKSNS | EDPFPQPERQ | KQQQPLALTQ | QEQQQQPLTL | PQQQRSQQQP |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| RCKQKVIFGS | GTVTFSLSFD | EPQKNAMAHR | NSTHQNSLEA | QKSSDTLTRH | EPLLPLQCGE |
| 1030 | 1040 | 1050 | 1060 | 1070 | |
| TDLDLTVQET | GLQGPVGGDQ | RPEVEDPEEL | SPALVVSSSQ | SFVISGGGST | VTENVVNS |