ClinVar for MedGen (Select 137973) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067130	NM_000388.4(CASR):c.43T>G (p.Trp15Gly)	CASR (W15G)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1	GUncertain significance
Select item 3028922	NM_000388.4(CASR):c.1465T>C (p.Tyr489His)	CASR (Y489H)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1	GLikely pathogenic
Select item 3028921	NM_000388.4(CASR):c.1906A>T (p.Lys636Ter)	CASR (K636* +1 more)	Single nucleotide variant (nonsense)	Familial hypocalciuric hypercalcemia 1	GLikely pathogenic
Select item 3028920	NM_000388.4(CASR):c.2912_2913delinsTT (p.Gly971Val)	CASR (G971V +1 more)	Indel (missense variant)	Familial hypocalciuric hypercalcemia 1	GLikely pathogenic
Select item 3028919	NM_000388.4(CASR):c.254C>T (p.Pro85Leu)	CASR (P85L)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1	GLikely pathogenic
Select item 3028917	NM_000388.4(CASR):c.2525T>C (p.Leu842Pro)	CASR (L842P +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1	GLikely pathogenic
Select item 3028915	NM_000388.4(CASR):c.1711G>T (p.Gly571Trp)	CASR (G571W +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1	GPathogenic
Select item 3028914	NM_000388.4(CASR):c.2113_2115del (p.Val705del)	CASR (V705del +1 more)	Deletion (inframe deletion)	Familial hypocalciuric hypercalcemia 1	GLikely pathogenic
Select item 2944825	NM_000388.4(CASR):c.511A>G (p.Ser171Gly)	CASR (S171G)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2664844	NM_000388.4(CASR):c.1786A>C (p.Thr596Pro)	CASR (T596P +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1	GUncertain significance
Select item 2573092	NM_000388.4(CASR):c.2360G>A (p.Cys787Tyr)	CASR (C787Y +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1	GLikely pathogenic
Select item 1719334	NM_000388.4(CASR):c.121C>A (p.His41Asn)	CASR (H41N)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 1698732	NM_000388.4(CASR):c.190A>G (p.Asn64Asp)	CASR (N64D)	Single nucleotide variant (missense variant)	Neonatal severe primary hyperparathyroidism +1 more	GLikely pathogenic
Select item 1697234	NM_000388.4(CASR):c.501T>A (p.Tyr167Ter)	CASR (Y167*)	Single nucleotide variant (nonsense)	Familial hypocalciuric hypercalcemia 1	GPathogenic
Select item 1685601	NM_000388.4(CASR):c.139A>G (p.Lys47Glu)	CASR (K47E)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1	GPathogenic
Select item 1683780	NM_000388.4(CASR):c.2156G>A (p.Trp719Ter)	CASR (W719* +1 more)	Single nucleotide variant (nonsense)	Familial hypocalciuric hypercalcemia 1	GPathogenic
Select item 1678560	NM_000388.4(CASR):c.1672dup (p.Glu558fs)	CASR (E558fs +1 more)	Duplication (frameshift variant)	Familial hypocalciuric hypercalcemia 1	GLikely pathogenic
Select item 1678546	NM_000388.4(CASR):c.2384G>T (p.Arg795Leu)	CASR (R795L +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1	GUncertain significance
Select item 1665478	NM_000388.4(CASR):c.493-12G>T	CASR	Single nucleotide variant (intron variant)	Autosomal dominant hypocalcemia 1 +4 more	GLikely benign
Select item 1504247	NM_000388.4(CASR):c.1425G>T (p.Glu475Asp)	CASR (E475D)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +4 more	GUncertain significance
Select item 1476747	NM_000388.4(CASR):c.2446A>G (p.Ile816Val)	CASR (I816V +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GConflicting classifications of pathogenicity
Select item 1446470	NM_000388.4(CASR):c.2686C>T (p.Arg896Cys)	CASR (R906C +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +4 more	GUncertain significance
Select item 1426376	NM_000388.4(CASR):c.2101C>A (p.Arg701Ser)	CASR (R701S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +6 more	GUncertain significance
Select item 1391637	NM_000388.4(CASR):c.2738C>T (p.Ser913Phe)	CASR (S913F +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 1367794	NM_000388.4(CASR):c.3197G>A (p.Gly1066Asp)	CASR (G1066D +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +6 more	GUncertain significance
Select item 1358647	NM_000388.4(CASR):c.1498G>A (p.Asp500Asn)	CASR (D500N)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +6 more	GUncertain significance
Select item 1350047	NM_000388.4(CASR):c.53C>T (p.Ser18Phe)	CASR (S18F)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +6 more	GUncertain significance
Select item 1299629	NM_000388.4(CASR):c.2506G>T (p.Val836Leu)	CASR (V836L +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1 +4 more	GLikely pathogenic
Select item 1217276	NM_000388.4(CASR):c.1853T>G (p.Leu618Arg)	CASR (L618R +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1192651	NM_000388.4(CASR):c.1609-89C>T	CASR	Single nucleotide variant (intron variant)	Familial hypocalciuric hypercalcemia 1 +3 more	GBenign
Select item 1156248	NM_000388.4(CASR):c.876C>T (p.Ile292=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia 1 +7 more	GLikely benign
Select item 1132435	NM_000388.4(CASR):c.825T>C (p.Asp275=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +6 more	GLikely benign
Select item 1128137	NM_000388.4(CASR):c.2844G>A (p.Leu948=)	CASR	Single nucleotide variant (synonymous variant)	CASR-related condition +7 more	GLikely benign
Select item 1115456	NM_000388.4(CASR):c.1788C>T (p.Thr596=)	CASR	Single nucleotide variant (synonymous variant)	CASR-related condition +7 more	GLikely benign
Select item 1098081	NM_000388.4(CASR):c.2439C>T (p.Ile813=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +6 more	GLikely benign
Select item 1077564	NM_000388.4(CASR):c.2046G>A (p.Pro682=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +6 more	GLikely benign
Select item 1077561	NM_000388.4(CASR):c.738C>T (p.Tyr246=)	CASR	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GLikely benign
Select item 1059510	NM_000388.4(CASR):c.1390C>G (p.Leu464Val)	CASR (L464V)	Single nucleotide variant (missense variant)	Neonatal severe primary hyperparathyroidism +4 more	GUncertain significance
Select item 1052340	NM_000388.4(CASR):c.130G>A (p.Val44Ile)	CASR (V44I)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +6 more	GUncertain significance
Select item 1012068	NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup)	CASR	Duplication (inframe_insertion)	Autosomal dominant hypocalcemia 1 +6 more	GUncertain significance
Select item 999136	NM_000388.4(CASR):c.2819A>C (p.Gln940Pro)	CASR (Q940P +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +6 more	GUncertain significance
Select item 977805	NM_000388.4(CASR):c.379G>A (p.Glu127Lys)	CASR (E127K)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1 +5 more	GPathogenic/Likely pathogenic
Select item 959855	NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)	CASR (Y218C)	Single nucleotide variant (missense variant)	Neonatal severe primary hyperparathyroidism +5 more	GPathogenic/Likely pathogenic
Select item 941666	NM_000388.4(CASR):c.1842C>G (p.Ile614Met)	CASR (I614M +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +6 more	GUncertain significance
Select item 936871	NM_000388.4(CASR):c.2243C>G (p.Pro748Arg)	CASR (P748R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 936676	NM_000388.4(CASR):c.3118C>G (p.Gln1040Glu)	CASR (Q1050E +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +4 more	GUncertain significance
Select item 902233	NM_000388.4(CASR):c.*1298A>G	CASR	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant hypocalcemia 1 +3 more	GUncertain significance
Select item 902114	NM_000388.4(CASR):c.*251G>C	CASR	Single nucleotide variant (3 prime UTR variant)	Familial hypocalciuric hypercalcemia 1 +3 more	GUncertain significance
Select item 900509	NM_000388.4(CASR):c.*1011T>A	CASR	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant hypocalcemia 1 +3 more	GUncertain significance
Select item 900089	NM_000388.4(CASR):c.1307C>G (p.Thr436Ser)	CASR (T436S)	Single nucleotide variant (missense variant)	Familial hypoparathyroidism +3 more	GUncertain significance
Select item 900017	NM_000388.4(CASR):c.183C>T (p.Ile61=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypoparathyroidism +3 more	GUncertain significance
Select item 899938	NM_000388.4(CASR):c.-137C>T	CASR	Single nucleotide variant (5 prime UTR variant)	Familial hypoparathyroidism +3 more	GUncertain significance
Select item 864148	NM_000388.4(CASR):c.2339C>T (p.Thr780Ile)	CASR (T780I +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +4 more	GUncertain significance
Select item 863927	NM_000388.4(CASR):c.946G>A (p.Gly316Ser)	CASR (G316S)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +6 more	GUncertain significance
Select item 859953	NM_000388.4(CASR):c.788C>T (p.Thr263Met)	CASR (T263M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 856702	NM_000388.4(CASR):c.118A>G (p.Ile40Val)	CASR (I40V)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +4 more	GUncertain significance
Select item 854641	NM_000388.4(CASR):c.2213T>C (p.Ile738Thr)	CASR (I738T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 851685	NM_000388.4(CASR):c.2549C>G (p.Ala850Gly)	CASR (A860G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GUncertain significance
Select item 846076	NM_000388.4(CASR):c.2503G>A (p.Ala835Thr)	CASR (A845T +1 more)	Single nucleotide variant (missense variant)	Neonatal severe primary hyperparathyroidism +4 more	GUncertain significance
Select item 844766	NM_000388.4(CASR):c.1192G>T (p.Asp398Tyr)	CASR (D398Y)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +2 more	GUncertain significance
Select item 844183	NM_000388.4(CASR):c.1132G>A (p.Glu378Lys)	CASR (E378K)	Single nucleotide variant (missense variant)	Neonatal severe primary hyperparathyroidism +6 more	GUncertain significance
Select item 838073	NM_000388.4(CASR):c.166G>T (p.Glu56Ter)	CASR (E56*)	Single nucleotide variant (nonsense)	Neonatal severe primary hyperparathyroidism +5 more	GPathogenic
Select item 834324	NM_000388.4(CASR):c.1163C>T (p.Ser388Leu)	CASR (S388L)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +6 more	GUncertain significance
Select item 830037	NM_000388.4(CASR):c.1670G>A (p.Gly557Glu)	CASR (G567E +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GLikely pathogenic
Select item 801995	NM_000388.4(CASR):c.503C>T (p.Ala168Val)	CASR (A168V)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1	GLikely pathogenic
Select item 801343	NM_000388.4(CASR):c.1693T>C (p.Cys565Arg)	CASR (C575R +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1	GUncertain significance
Select item 772693	NM_000388.4(CASR):c.2139C>T (p.Ser713=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +6 more	GLikely benign
Select item 771996	NM_000388.4(CASR):c.3018G>A (p.Thr1006=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +6 more	GLikely benign
Select item 744538	NM_000388.4(CASR):c.108G>A (p.Gly36=)	CASR	Single nucleotide variant (synonymous variant)	Neonatal severe primary hyperparathyroidism +4 more	GConflicting classifications of pathogenicity
Select item 742658	NM_000388.4(CASR):c.1887T>C (p.Phe629=)	CASR	Single nucleotide variant (synonymous variant)	Neonatal severe primary hyperparathyroidism +6 more	GLikely benign
Select item 729759	NM_000388.4(CASR):c.54T>G (p.Ser18=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia 1 +4 more	GLikely benign
Select item 703815	NM_000388.4(CASR):c.1554A>G (p.Gly518=)	CASR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GLikely benign
Select item 703658	NM_000388.4(CASR):c.1452C>T (p.Asp484=)	CASR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GLikely benign
Select item 701955	NM_000388.4(CASR):c.2994G>A (p.Leu998=)	CASR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GLikely benign
Select item 700259	NM_000388.4(CASR):c.813C>A (p.Ser271=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +6 more	GLikely benign
Select item 696697	NM_000388.4(CASR):c.27C>T (p.Val9=)	CASR	Single nucleotide variant (synonymous variant)	CASR-related condition +7 more	GLikely benign
Select item 696332	NM_000388.4(CASR):c.1164G>A (p.Ser388=)	CASR	Single nucleotide variant (synonymous variant)	CASR-related condition +7 more	GBenign/Likely benign
Select item 684437	NM_000388.4(CASR):c.2637C>G (p.His879Gln)	CASR (H879Q +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1	GUncertain significance
Select item 662519	NM_000388.4(CASR):c.614G>A (p.Arg205His)	CASR (R205H)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +6 more	GUncertain significance
Select item 662304	NM_000388.4(CASR):c.98T>G (p.Ile33Ser)	CASR (I33S)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +4 more	GUncertain significance
Select item 661907	NM_000388.4(CASR):c.2099A>G (p.Asn700Ser)	CASR (N700S +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1 +4 more	GUncertain significance
Select item 653245	NM_000388.4(CASR):c.2638G>T (p.Ala880Ser)	CASR (A890S +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +6 more	GUncertain significance
Select item 651366	NM_000388.4(CASR):c.2161C>T (p.Leu721Phe)	CASR (L721F +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1 +6 more	GUncertain significance
Select item 647813	NM_000388.4(CASR):c.32T>C (p.Leu11Ser)	CASR (L11S)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +7 more	GUncertain significance
Select item 646771	NM_000388.4(CASR):c.232A>G (p.Ile78Val)	CASR (I78V)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 8 +6 more	GUncertain significance
Select item 643371	NM_000388.4(CASR):c.2293T>C (p.Cys765Arg)	CASR (C775R +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 640675	NM_000388.4(CASR):c.2990C>A (p.Ser997Tyr)	CASR (S997Y +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 640176	NM_000388.4(CASR):c.2027C>G (p.Thr676Arg)	CASR (T686R +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1 +6 more	GUncertain significance
Select item 639389	NM_000388.4(CASR):c.2339C>G (p.Thr780Ser)	CASR (T790S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +4 more	GUncertain significance
Select item 597124	NM_000388.4(CASR):c.2570T>C (p.Ile857Thr)	CASR (I857T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 575594	NM_000388.4(CASR):c.857G>A (p.Arg286His)	CASR (R286H)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +4 more	GUncertain significance
Select item 573275	NM_000388.4(CASR):c.1193A>G (p.Asp398Gly)	CASR (D398G)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +6 more	GUncertain significance
Select item 573012	NM_000388.4(CASR):c.865A>G (p.Thr289Ala)	CASR (T289A)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +6 more	GUncertain significance
Select item 572425	NM_000388.4(CASR):c.2209G>A (p.Val737Ile)	CASR (V737I +1 more)	Single nucleotide variant (missense variant)	Neonatal severe primary hyperparathyroidism +6 more	GConflicting classifications of pathogenicity
Select item 571815	NM_000388.4(CASR):c.2980C>T (p.His994Tyr)	CASR (H994Y +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +4 more	GUncertain significance
Select item 571590	NM_000388.4(CASR):c.2767C>G (p.Pro923Ala)	CASR (P923A +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 567686	NM_000388.4(CASR):c.11A>G (p.Tyr4Cys)	CASR (Y4C)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +2 more	GUncertain significance
Select item 566258	NM_000388.4(CASR):c.1149G>C (p.Arg383Ser)	CASR (R383S)	Single nucleotide variant (missense variant)	Neonatal severe primary hyperparathyroidism +6 more	GUncertain significance
Select item 566256	NM_000388.4(CASR):c.1140T>A (p.Ser380Arg)	CASR (S380R)	Single nucleotide variant (missense variant)	Neonatal severe primary hyperparathyroidism +6 more	GUncertain significance
Select item 532647	NM_000388.4(CASR):c.3234A>G (p.Ser1078=)	CASR	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GLikely benign

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