Download [XML] [CSV] [Text]
Gene Protein AA change dbSNP Phenotype Chain Detail
Download [XML] [CSV] [Text]
1 CASR P41180 p.Leu11Ser - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
Detail
0.69 (T)
0.976 (D)
N
2 CASR P41180 p.Leu13Pro rs104893717 Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
Detail
0.27 (T)
0.167 (N)
N
3 CASR P41180 p.Pro39Ala rs121909262 Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
Detail
0.42 (T)
0.685 (D)
N
4 CASR P41180 p.Lys47Asn rs104893702 Familial isolated hypoparathyroidism (FIH) [MIM:146200]
Detail
0.53 (T)
0.983 (D)
N
5 CASR P41180 p.Arg62Met rs121909265 Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
Detail
0.18 (T)
1 (D)
N
6 CASR P41180 p.Arg66Cys rs121909266 Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
Detail
0.14 (T)
1 (D)
N
7 CASR P41180 p.Ala116Thr rs104893691 Familial isolated hypoparathyroidism (FIH) [MIM:146200]
Detail
0.54 (T)
0.977 (D)
N
8 CASR P41180 p.Asn118Lys rs104893695 Familial isolated hypoparathyroidism (FIH) [MIM:146200]
Detail
0.93 (T)
0.996 (D)
N
9 CASR P41180 p.Leu125Pro rs104893708 Familial isolated hypoparathyroidism (FIH) [MIM:146200]
Detail
0.31 (T)
1 (D)
N
10 CASR P41180 p.Glu127Ala rs121909260 HYPOPARATHYROIDISM, FAMILIAL ISOLATED [MIM:601199#0004]
Detail
0.17 (T)
0.996 (D)
N
11 CASR P41180 p.Phe128Leu rs104893696 Familial isolated hypoparathyroidism (FIH) [MIM:146200]
Detail
0.29 (T)
0.975 (D)
N
12 CASR P41180 p.Cys131Trp rs121909267 Familial isolated hypoparathyroidism (FIH) [MIM:146200]
Detail
0.02 (D)
0.979 (D)
N
13 CASR P41180 p.Thr138Met rs121909263 Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
Detail
0.05 (D)
0.999 (D)
N
14 CASR P41180 p.Gly143Glu rs121909264 Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
Detail
0.02 (D)
1 (D)
N
15 CASR P41180 p.Thr151Met rs104893694 Familial isolated hypoparathyroidism (FIH) [MIM:146200]
Detail
0.25 (T)
0.981 (D)
N
16 CASR P41180 p.Leu159Val rs148050082 variant of unknown significance
Detail
0.28 (T)
0.514 (D)
N
17 CASR P41180 p.Leu174Arg - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
Detail
0.00 (D)
1 (D)
N
18 CASR P41180 p.Phe180Cys rs121909268 Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
Detail
0.00 (D)
0.962 (D)
N
19 CASR P41180 p.Arg185Gln rs104893689 Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
Detail
0.15 (T)
1 (D)
N
20 CASR P41180 p.Glu191Lys rs104893697 Familial isolated hypoparathyroidism (FIH) [MIM:146200]
Detail
0.63 (T)
0.996 (D)
N
21 CASR P41180 p.Arg227Leu rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]
Detail
0.31 (T)
0.673 (D)
N
22 CASR P41180 p.Arg227Gln rs28936684 Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
Detail
0.57 (T)
0.886 (D)
N
23 CASR P41180 p.Glu250Lys rs62269092 variant of unknown significance
Detail
0.85 (T)
0.005 (N)
N
24 CASR P41180 p.Glu251Gly rs140418347 variant of unknown significance
Detail
0.36 (T)
0.976 (D)
N
25 CASR P41180 p.Ile283Thr rs142745096 variant of unknown significance
Detail
0.33 (T)
0.704 (D)
N
26 CASR P41180 p.Glu297Lys rs121909259 Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
Detail
0.08 (T)
1 (D)
N
27 CASR P41180 p.Ile305Val rs140920534 variant of unknown significance
Detail
0.72 (T)
0.061 (N)
N
28 CASR P41180 p.His338Tyr rs144968230 variant of unknown significance
Detail
0.49 (T)
0.91 (D)
N
29 CASR P41180 p.Glu354Ala - Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]
Detail
0.62 (T)
0.989 (D)
N
30 CASR P41180 p.Ser380Arg rs145869851 variant of unknown significance
Detail
0.67 (T)
0.006 (N)
N
31 CASR P41180 p.Arg383Ser rs148573275 variant of unknown significance
Detail
0.74 (T)
0.132 (N)
N
32 CASR P41180 p.His429Tyr rs142818334 variant of unknown significance
Detail
0.28 (T)
0.001 (N)
N
33 CASR P41180 p.Thr445Ala rs12493789 variant of unknown significance
Detail
0.96 (T)
0.005 (N)
N
34 CASR P41180 p.Gly447Asp rs141315218 variant of unknown significance
Detail
0.61 (T)
0.953 (D)
N
35 CASR P41180 p.Arg465Gln rs104893716 Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
Detail
0.29 (T)
0.948 (D)
N
36 CASR P41180 p.Asn471Ile rs145042469 variant of unknown significance
Detail
0.37 (T)
0.917 (D)
N
37 CASR P41180 p.Asn488Ser rs146739893 variant of unknown significance
Detail
0.93 (T)
0.302 (N)
N
38 CASR P41180 p.Asn493Ser rs140347078 variant of unknown significance
Detail
0.15 (T)
0.725 (D)
N
39 CASR P41180 p.Arg544Gln rs115230894 variant of unknown significance
Detail
0.28 (T)
0.277 (N)
N
40 CASR P41180 p.Gly553Arg rs104893719 Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
Detail
0.24 (T)
0.998 (D)
N
41 CASR P41180 p.Gly557Glu - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
Detail
0.01 (D)
0.915 (D)
N
42 CASR P41180 p.Cys582Tyr rs104893690 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]
Detail
0.00 (D)
1 (D)
N
43 CASR P41180 p.Cys582Phe rs104893690 Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
Detail
0.00 (D)
1 (D)
N
44 CASR P41180 p.Glu604Asp rs147376568 variant of unknown significance
Detail
0.30 (T)
0.931 (D)
N
45 CASR P41180 p.Glu604Lys rs104893712 Familial isolated hypoparathyroidism (FIH) [MIM:146200]
Detail
0.21 (T)
0.929 (D)
N
46 CASR P41180 p.Phe612Ser rs104893698 Familial isolated hypoparathyroidism (FIH) [MIM:146200]
Detail
0.01 (D)
1 (D)
N
47 CASR P41180 p.Leu616Val rs104893703 Familial isolated hypoparathyroidism (FIH) [MIM:146200]
Detail
0.13 (T)
0.858 (D)
N
48 CASR P41180 p.Phe662Leu rs111733898 variant of unknown significance
Detail
0.07 (T)
1 (D)
N
49 CASR P41180 p.Gly670Glu rs104893700 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]
Detail
0.00 (D)
1 (D)
N
50 CASR P41180 p.Gln681His rs121909261 Familial isolated hypoparathyroidism (FIH) [MIM:146200]
Detail
0.18 (T)
1 (D)
N
51 CASR P41180 p.Ile686Val - Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]
Detail
0.78 (T)
0.003 (N)
N
52 CASR P41180 p.Val697Met - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
Detail
0.08 (T)
0.969 (D)
N
53 CASR P41180 p.Leu727Gln rs104893718 Familial isolated hypoparathyroidism (FIH) [MIM:146200]
Detail
0.00 (D)
1 (D)
N
54 CASR P41180 p.Ala746Val rs139417576 variant of unknown significance
Detail
0.51 (T)
0.357 (N)
N
55 CASR P41180 p.Thr764Met rs145209598 variant of unknown significance
Detail
0.11 (T)
1 (D)
N
56 CASR P41180 p.Leu773Arg rs104893699 HYPOPARATHYROIDISM, SPORADIC [MIM:601199#0019]
Detail
0.00 (D)
0.999 (D)
N
57 CASR P41180 p.Phe788Cys rs104893701 Familial isolated hypoparathyroidism (FIH) [MIM:146200]
Detail
0.00 (D)
1 (D)
N
58 CASR P41180 p.Phe788Leu rs104893711 Familial isolated hypoparathyroidism (FIH) [MIM:146200]
Detail
0.16 (T)
0.96 (D)
N
59 CASR P41180 p.Arg795Trp rs121909258 Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
Detail
0.00 (D)
1 (D)
N
60 CASR P41180 p.Asn802Ser rs140022350 variant of unknown significance
Detail
0.02 (D)
0.979 (D)
N
61 CASR P41180 p.Phe806Ser rs104893693 Familial isolated hypoparathyroidism (FIH) [MIM:146200]
Detail
0.25 (T)
1 (D)
N
62 CASR P41180 p.Ser820Phe rs104893710 Familial isolated hypoparathyroidism (FIH) [MIM:146200]
Detail
0.00 (D)
0.999 (D)
N
63 CASR P41180 p.Ala843Glu rs104893706 Familial isolated hypoparathyroidism (FIH) [MIM:146200]
Detail
0.04 (D)
1 (D)
N
64 CASR P41180 p.Cys851Ser - variant of unknown significance
Detail
0.07 (T)
1 (D)
N
65 CASR P41180 p.Phe881Leu rs104893704 Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
Detail
0.70 (T)
0.452 (N)
N
66 CASR P41180 p.Arg898Gln rs121909269 Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]
Detail
0.32 (T)
0.994 (D)
N
67 CASR P41180 p.Glu942Lys rs76327999 variant of unknown significance
Detail
0.51 (T)
0.028 (N)
N
68 CASR P41180 p.Thr949Ala rs143559510 variant of unknown significance
Detail
0.70 (T)
0 (N)
N
69 CASR P41180 p.Pro951Thr rs4987051 variant of unknown significance
Detail
0.50 (T)
0.076 (N)
N
70 CASR P41180 p.Gln957Arg rs150979829 variant of unknown significance
Detail
0.18 (T)
0.001 (N)
N
71 CASR P41180 p.Ala986Pro rs1801725 CALCIUM, SERUM LEVEL OF [MIM:601199#0040]
Detail
(-)
(-)
N
72 CASR P41180 p.Ala986Ser rs1801725 variant of unknown significance
Detail
0.59 (T)
0.008 (N)
N
73 CASR P41180 p.Ala986Thr rs1801725 CALCIUM, SERUM LEVEL OF [MIM:601199#0040]
Detail
(-)
(-)
N
74 CASR P41180 p.Ala988Gly - Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]
Detail
0.42 (T)
0.825 (D)
N
75 CASR P41180 p.Ala988Val - Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]
Detail
0.17 (T)
0.001 (N)
N
76 CASR P41180 p.Arg990Gly rs1042636 variant of unknown significance
Detail
0.61 (T)
0.337 (N)
N
77 CASR P41180 p.Gln1011Glu rs1801726 variant of unknown significance
Detail
0.01 (D)
0.002 (N)
N
78 CASR P41180 p.Gly1031Ser rs142704083 variant of unknown significance
Detail
0.44 (T)
0.003 (N)
N
79 CASR P41180 p.Ser1065Gly rs185453682 variant of unknown significance
Detail
(-)
(-)
N