ClinVar for MedGen (Select 331326) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1803180	NM_000388.4(CASR):c.205C>A (p.Arg69Ser)	CASR (R69S)	Single nucleotide variant (missense variant)	Neonatal severe primary hyperparathyroidism	GLikely pathogenic
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 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 1446470	NM_000388.4(CASR):c.2686C>T (p.Arg896Cys)	CASR (R906C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +5 more	GUncertain significance
Select item 1426376	NM_000388.4(CASR):c.2101C>A (p.Arg701Ser)	CASR (R701S +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +5 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 +5 more	GUncertain significance
Select item 1358647	NM_000388.4(CASR):c.1498G>A (p.Asp500Asn)	CASR (D500N)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +5 more	GUncertain significance
Select item 1350047	NM_000388.4(CASR):c.53C>T (p.Ser18Phe)	CASR (S18F)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +5 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)	Neonatal severe primary hyperparathyroidism +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 1177515	NM_000388.4(CASR):c.209G>A (p.Trp70Ter)	CASR (W70*)	Single nucleotide variant (nonsense)	Autosomal dominant hypocalcemia 1 +1 more	GPathogenic
Select item 1156248	NM_000388.4(CASR):c.876C>T (p.Ile292=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +6 more	GLikely benign
Select item 1132435	NM_000388.4(CASR):c.825T>C (p.Asp275=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +5 more	GLikely benign
Select item 1128137	NM_000388.4(CASR):c.2844G>A (p.Leu948=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +6 more	GLikely benign
Select item 1115456	NM_000388.4(CASR):c.1788C>T (p.Thr596=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +6 more	GLikely benign
Select item 1098081	NM_000388.4(CASR):c.2439C>T (p.Ile813=)	CASR	Single nucleotide variant (synonymous variant)	Neonatal severe primary hyperparathyroidism +5 more	GLikely benign
Select item 1077564	NM_000388.4(CASR):c.2046G>A (p.Pro682=)	CASR	Single nucleotide variant (synonymous variant)	Neonatal severe primary hyperparathyroidism +5 more	GLikely benign
Select item 1077561	NM_000388.4(CASR):c.738C>T (p.Tyr246=)	CASR	Single nucleotide variant (synonymous variant)	Neonatal severe primary hyperparathyroidism +6 more	GLikely benign
Select item 1059510	NM_000388.4(CASR):c.1390C>G (p.Leu464Val)	CASR (L464V)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +5 more	GUncertain significance
Select item 1052340	NM_000388.4(CASR):c.130G>A (p.Val44Ile)	CASR (V44I)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +5 more	GUncertain significance
Select item 1033006	NM_000388.4(CASR):c.2570T>A (p.Ile857Asn)	CASR (I857N +1 more)	Single nucleotide variant (missense variant)	Neonatal severe primary hyperparathyroidism +2 more	GUncertain significance
Select item 1012068	NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup)	CASR	Duplication (inframe_insertion)	Autosomal dominant hypocalcemia 1 +5 more	GUncertain significance
Select item 999136	NM_000388.4(CASR):c.2819A>C (p.Gln940Pro)	CASR (Q940P +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +5 more	GUncertain significance
Select item 977805	NM_000388.4(CASR):c.379G>A (p.Glu127Lys)	CASR (E127K)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 959855	NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)	CASR (Y218C)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1 +5 more	GPathogenic/Likely pathogenic
Select item 956956	NM_000388.4(CASR):c.493-2A>C	CASR	Single nucleotide variant (splice acceptor variant)	Neonatal severe primary hyperparathyroidism +2 more	GLikely pathogenic
Select item 941666	NM_000388.4(CASR):c.1842C>G (p.Ile614Met)	CASR (I614M +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +5 more	GUncertain significance
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)	Autosomal dominant hypocalcemia 1 +5 more	GUncertain significance
Select item 863927	NM_000388.4(CASR):c.946G>A (p.Gly316Ser)	CASR (G316S)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +5 more	GUncertain significance
Select item 859953	NM_000388.4(CASR):c.788C>T (p.Thr263Met)	CASR (T263M)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +5 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)	Autosomal dominant hypocalcemia 1 +5 more	GUncertain significance
Select item 851685	NM_000388.4(CASR):c.2549C>G (p.Ala850Gly)	CASR (A860G +1 more)	Single nucleotide variant (missense variant)	Familial hypoparathyroidism +7 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 844183	NM_000388.4(CASR):c.1132G>A (p.Glu378Lys)	CASR (E378K)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +5 more	GUncertain significance
Select item 838073	NM_000388.4(CASR):c.166G>T (p.Glu56Ter)	CASR (E56*)	Single nucleotide variant (nonsense)	Nephrolithiasis/nephrocalcinosis +6 more	GPathogenic
Select item 834324	NM_000388.4(CASR):c.1163C>T (p.Ser388Leu)	CASR (S388L)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +5 more	GUncertain significance
Select item 772693	NM_000388.4(CASR):c.2139C>T (p.Ser713=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +5 more	GLikely benign
Select item 771996	NM_000388.4(CASR):c.3018G>A (p.Thr1006=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +5 more	GLikely benign
Select item 744538	NM_000388.4(CASR):c.108G>A (p.Gly36=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +5 more	GConflicting classifications of pathogenicity
Select item 742658	NM_000388.4(CASR):c.1887T>C (p.Phe629=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +5 more	GLikely benign
Select item 729759	NM_000388.4(CASR):c.54T>G (p.Ser18=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +5 more	GLikely benign
Select item 703815	NM_000388.4(CASR):c.1554A>G (p.Gly518=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +5 more	GLikely benign
Select item 703658	NM_000388.4(CASR):c.1452C>T (p.Asp484=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +5 more	GLikely benign
Select item 701955	NM_000388.4(CASR):c.2994G>A (p.Leu998=)	CASR	Single nucleotide variant (synonymous variant)	Familial hypocalciuric hypercalcemia +5 more	GLikely benign
Select item 700259	NM_000388.4(CASR):c.813C>A (p.Ser271=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +5 more	GLikely benign
Select item 696697	NM_000388.4(CASR):c.27C>T (p.Val9=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +6 more	GLikely benign
Select item 696332	NM_000388.4(CASR):c.1164G>A (p.Ser388=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +6 more	GBenign/Likely benign
Select item 662519	NM_000388.4(CASR):c.614G>A (p.Arg205His)	CASR (R205H)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +5 more	GUncertain significance
Select item 662304	NM_000388.4(CASR):c.98T>G (p.Ile33Ser)	CASR (I33S)	Single nucleotide variant (missense variant)	Neonatal severe primary hyperparathyroidism +5 more	GConflicting classifications of pathogenicity
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)	Familial hypocalciuric hypercalcemia +5 more	GUncertain significance
Select item 652572	NM_000388.4(CASR):c.2278A>T (p.Ile760Phe)	CASR (I760F +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +1 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 +5 more	GUncertain significance
Select item 647813	NM_000388.4(CASR):c.32T>C (p.Leu11Ser)	CASR (L11S)	Single nucleotide variant (missense variant)	Familial hypoparathyroidism +6 more	GUncertain significance
Select item 646771	NM_000388.4(CASR):c.232A>G (p.Ile78Val)	CASR (I78V)	Single nucleotide variant (missense variant)	Neonatal severe primary hyperparathyroidism +5 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)	Neonatal severe primary hyperparathyroidism +5 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 633483	NM_000388.4(CASR):c.2303G>T (p.Gly768Val)	CASR (G768V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 597124	NM_000388.4(CASR):c.2570T>C (p.Ile857Thr)	CASR (I857T +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +6 more	GUncertain significance
Select item 585617	NM_000388.4(CASR):c.101T>C (p.Leu34Pro)	CASR (L34P)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 575594	NM_000388.4(CASR):c.857G>A (p.Arg286His)	CASR (R286H)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +4 more	GUncertain significance
Select item 573275	NM_000388.4(CASR):c.1193A>G (p.Asp398Gly)	CASR (D398G)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +5 more	GUncertain significance
Select item 573012	NM_000388.4(CASR):c.865A>G (p.Thr289Ala)	CASR (T289A)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +5 more	GUncertain significance
Select item 572425	NM_000388.4(CASR):c.2209G>A (p.Val737Ile)	CASR (V737I +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +5 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)	Autosomal dominant hypocalcemia 1 +5 more	GUncertain significance
Select item 566469	NM_000388.4(CASR):c.494T>G (p.Val165Gly)	CASR (V165G)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +3 more	GUncertain significance
Select item 566258	NM_000388.4(CASR):c.1149G>C (p.Arg383Ser)	CASR (R383S)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +5 more	GUncertain significance
Select item 566256	NM_000388.4(CASR):c.1140T>A (p.Ser380Arg)	CASR (S380R)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +5 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 +6 more	GLikely benign
Select item 532645	NM_000388.4(CASR):c.675A>G (p.Lys225=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +5 more	GLikely benign
Select item 532639	NM_000388.4(CASR):c.3234A>T (p.Ser1078=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 532630	NM_000388.4(CASR):c.1116C>T (p.Thr372=)	CASR	Single nucleotide variant (synonymous variant)	Autosomal dominant hypocalcemia 1 +5 more	GLikely benign
Select item 532618	NM_000388.4(CASR):c.679C>T (p.Arg227Ter)	CASR (R227*)	Single nucleotide variant (nonsense)	Neonatal severe primary hyperparathyroidism +5 more	GPathogenic/Likely pathogenic
Select item 532602	NM_000388.4(CASR):c.1463A>G (p.Asn488Ser)	CASR (N488S)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +6 more	GUncertain significance
Select item 532595	NM_000388.4(CASR):c.2255G>A (p.Arg752His)	CASR (R752H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +5 more	GConflicting classifications of pathogenicity
Select item 532584	NM_000388.4(CASR):c.1912C>T (p.Arg638Cys)	CASR (R638C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +5 more	GUncertain significance
Select item 532578	NM_000388.4(CASR):c.1622A>G (p.Asn541Ser)	CASR (N541S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +5 more	GUncertain significance
Select item 512318	NM_000388.4(CASR):c.1377+17T>C	CASR	Single nucleotide variant (intron variant)	Autosomal dominant hypocalcemia 1 +5 more	GLikely benign
Select item 501208	NM_000388.4(CASR):c.1163C>G (p.Ser388Trp)	CASR (S388W)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +6 more	GUncertain significance
Select item 463955	NM_000388.4(CASR):c.779A>G (p.Gln260Arg)	CASR (Q260R)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +6 more	GConflicting classifications of pathogenicity
Select item 463950	NM_000388.4(CASR):c.40A>G (p.Thr14Ala)	CASR (T14A)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +7 more	GConflicting classifications of pathogenicity
Select item 463949	NM_000388.4(CASR):c.3220A>G (p.Asn1074Asp)	CASR (N1074D +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +5 more	GUncertain significance
Select item 463947	NM_000388.4(CASR):c.308C>T (p.Thr103Ile)	CASR (T103I)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +6 more	GUncertain significance
Select item 463935	NM_000388.4(CASR):c.2680G>A (p.Val894Ile)	CASR (V894I +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +5 more	GUncertain significance
Select item 463934	NM_000388.4(CASR):c.2677A>G (p.Asn893Asp)	CASR (N893D +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +5 more	GUncertain significance
Select item 463929	NM_000388.4(CASR):c.2551T>A (p.Cys851Ser)	CASR (C851S +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +6 more	GUncertain significance
Select item 463920	NM_000388.4(CASR):c.220A>C (p.Met74Leu)	CASR (M74L)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 463918	NM_000388.4(CASR):c.2056A>G (p.Ile686Val)	CASR (I686V +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +5 more	GConflicting classifications of pathogenicity
Select item 463912	NM_000388.4(CASR):c.1820C>T (p.Ser607Leu)	CASR (S607L +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia +5 more	GUncertain significance

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