ClinVar for Gene (Select 846) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380979	NM_000388.4(CASR):c.1694G>T (p.Cys565Phe)	CASR (C565F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3380978	NM_000388.4(CASR):c.1659del (p.Ile554fs)	CASR (I554fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3379488	NM_000388.4(CASR):c.2380T>A (p.Ser794Thr)	CASR (S794T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379487	NM_000388.4(CASR):c.720T>A (p.Ser240Arg)	CASR (S240R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379486	NM_000388.4(CASR):c.639_640delinsCC (p.Ala214Pro)	CASR (A214P)	Indel (missense variant)	not provided	GUncertain significance
Select item 3379485	NM_000388.4(CASR):c.500A>C (p.Tyr167Ser)	CASR (Y167S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379484	NM_000388.4(CASR):c.443G>A (p.Gly148Asp)	CASR (G148D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376824	NM_000388.4(CASR):c.1742C>T (p.Ala581Val)	CASR (A581V +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1	GLikely pathogenic
Select item 3361649	NM_000388.4(CASR):c.1583T>A (p.Ile528Asn)	CASR (I528N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360942	NM_000388.4(CASR):c.2320G>C (p.Gly774Arg)	CASR (G774R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3345844	NM_000388.4(CASR):c.1366G>T (p.Glu456Ter)	CASR (E456*)	Single nucleotide variant (nonsense)	CASR-related disorder	GLikely pathogenic
Select item 3339405	NM_000388.4(CASR):c.2232C>A (p.Tyr744Ter)	CASR (Y744* +1 more)	Single nucleotide variant (nonsense)	Familial hypocalciuric hypercalcemia	GPathogenic
Select item 3339268	NM_000388.4(CASR):c.2523C>A (p.Ile841=)	CASR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3336091	NM_000388.4(CASR):c.1703G>T (p.Cys568Phe)	CASR (C568F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263506	NM_000388.4(CASR):c.2504C>A (p.Ala835Asp)	CASR (A845D +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GLikely pathogenic
Select item 3263505	NM_000388.4(CASR):c.2102G>T (p.Arg701Leu)	CASR (R701L +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3263504	NM_000388.4(CASR):c.3162T>C (p.Leu1054=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3263503	NM_000388.4(CASR):c.4G>A (p.Ala2Thr)	CASR (A2T)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3263502	NM_000388.4(CASR):c.2916G>C (p.Thr972=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3263501	NM_000388.4(CASR):c.468G>T (p.Leu156=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3263500	NM_000388.4(CASR):c.69C>A (p.Asp23Glu)	CASR (D23E)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3263499	NM_000388.4(CASR):c.2970G>A (p.Arg990=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3263498	NM_000388.4(CASR):c.121C>G (p.His41Asp)	CASR (H41D)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3263497	NM_000388.4(CASR):c.93C>T (p.Asp31=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3263496	NM_000388.4(CASR):c.702T>C (p.Asp234=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3263495	NM_000388.4(CASR):c.2502T>C (p.Ser834=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3263494	NM_000388.4(CASR):c.1159A>T (p.Ser387Cys)	CASR (S387C)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3263493	NM_000388.4(CASR):c.1738_1743del (p.Ser580_Ala581del)	CASR	Deletion (inframe_deletion)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3263492	NM_000388.4(CASR):c.1101T>C (p.Pro367=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3263491	NM_000388.4(CASR):c.321C>G (p.Ala107=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3263490	NM_000388.4(CASR):c.2383C>A (p.Arg795=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3263487	NM_000388.4(CASR):c.393C>T (p.Cys131=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3263486	NM_000388.4(CASR):c.1639C>A (p.Leu547Met)	CASR (L557M +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3263485	NM_000388.4(CASR):c.1641G>T (p.Leu547=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3263484	NM_000388.4(CASR):c.141A>G (p.Lys47=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3263483	NM_000388.4(CASR):c.2847C>A (p.Thr949=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3263482	NM_000388.4(CASR):c.2892G>A (p.Gln964=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3263481	NM_000388.4(CASR):c.800T>C (p.Ile267Thr)	CASR (I267T)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3263479	NM_000388.4(CASR):c.1770G>C (p.Trp590Cys)	CASR (W590C +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3263478	NM_000388.4(CASR):c.2720G>C (p.Gly907Ala)	CASR (G907A +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3263475	NM_000388.4(CASR):c.1965C>T (p.Leu655=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3246879	NC_000003.11:g.(?_121980355)_(121981279_?)del	CASR	Deletion	Autosomal dominant hypocalcemia 1 +1 more	GPathogenic
Select item 3234580	NM_000388.4(CASR):c.2013G>C (p.Glu671Asp)	CASR (E671D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233355	NM_000388.4(CASR):c.2639C>T (p.Ala880Val)	CASR (A880V +1 more)	Single nucleotide variant (missense variant)	Familial hypocalciuric hypercalcemia 1	GUncertain significance
Select item 3231600	NM_000388.4(CASR):c.998T>C (p.Phe333Ser)	CASR (F333S)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231599	NM_000388.4(CASR):c.976C>T (p.Gln326Ter)	CASR (Q326*)	Single nucleotide variant (nonsense)	Nephrolithiasis/nephrocalcinosis	GPathogenic
Select item 3231598	NM_000388.4(CASR):c.937G>C (p.Val313Leu)	CASR (V313L)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231597	NM_000388.4(CASR):c.91G>A (p.Asp31Asn)	CASR (D31N)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231596	NM_000388.4(CASR):c.902G>T (p.Ser301Ile)	CASR (S301I)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231595	NM_000388.4(CASR):c.901A>T (p.Ser301Cys)	CASR (S301C)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231594	NM_000388.4(CASR):c.888C>G (p.Ser296Arg)	CASR (S296R)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231593	NM_000388.4(CASR):c.876C>A (p.Ile292=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3231592	NM_000388.4(CASR):c.861T>C (p.Asn287=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3231591	NM_000388.4(CASR):c.84G>C (p.Lys28Asn)	CASR (K28N)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231590	NM_000388.4(CASR):c.820C>A (p.Pro274Thr)	CASR (P274T)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231589	NM_000388.4(CASR):c.798C>T (p.Val266=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3231588	NM_000388.4(CASR):c.790G>A (p.Ala264Thr)	CASR (A264T)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231586	NM_000388.4(CASR):c.719G>C (p.Ser240Thr)	CASR (S240T)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231585	NM_000388.4(CASR):c.657G>T (p.Gly219=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3231584	NM_000388.4(CASR):c.651C>T (p.Asp217=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3231583	NM_000388.4(CASR):c.630C>A (p.Gly210=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3231582	NM_000388.4(CASR):c.621C>A (p.Asn207Lys)	CASR (N207K)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231581	NM_000388.4(CASR):c.-5G>A	CASR	Single nucleotide variant (5 prime UTR variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231580	NM_000388.4(CASR):c.59A>G (p.Tyr20Cys)	CASR (Y20C)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231579	NM_000388.4(CASR):c.530A>G (p.Lys177Arg)	CASR (K177R)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231578	NM_000388.4(CASR):c.523A>T (p.Ser175Cys)	CASR (S175C)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231577	NM_000388.4(CASR):c.498T>C (p.Ser166=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3231576	NM_000388.4(CASR):c.36A>G (p.Ala12=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3231575	NM_000388.4(CASR):c.326A>G (p.Glu109Gly)	CASR (E109G)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231574	NM_000388.4(CASR):c.3175T>C (p.Ser1059Pro)	CASR (S1059P +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231573	NM_000388.4(CASR):c.3158C>T (p.Ala1053Val)	CASR (A1053V +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231572	NM_000388.4(CASR):c.3118C>A (p.Gln1040Lys)	CASR (Q1040K +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231571	NM_000388.4(CASR):c.3117C>G (p.Asp1039Glu)	CASR (D1039E +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231570	NM_000388.4(CASR):c.3108G>A (p.Val1036=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3231569	NM_000388.4(CASR):c.3101G>T (p.Gly1034Val)	CASR (G1034V +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231568	NM_000388.4(CASR):c.3057G>A (p.Gly1019=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3231567	NM_000388.4(CASR):c.3045G>T (p.Pro1015=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3231566	NM_000388.4(CASR):c.-2C>T	CASR	Single nucleotide variant (5 prime UTR variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231565	NM_000388.4(CASR):c.2982C>G (p.His994Gln)	CASR (H1004Q +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231564	NM_000388.4(CASR):c.2965C>T (p.His989Tyr)	CASR (H989Y +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231563	NM_000388.4(CASR):c.2941G>A (p.Glu981Lys)	CASR (E981K +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231562	NM_000388.4(CASR):c.2933G>C (p.Ser978Thr)	CASR (S978T +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231561	NM_000388.4(CASR):c.288G>T (p.Arg96Ser)	CASR (R96S)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231560	NM_000388.4(CASR):c.2885G>A (p.Cys962Tyr)	CASR (C962Y +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231559	NM_000388.4(CASR):c.2870A>C (p.Gln957Pro)	CASR (Q957P +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231558	NM_000388.4(CASR):c.2867C>T (p.Ser956Phe)	CASR (S956F +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231557	NM_000388.4(CASR):c.2817C>G (p.Thr939=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3231556	NM_000388.4(CASR):c.2811C>T (p.Ala937=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3231555	NM_000388.4(CASR):c.2782G>C (p.Glu928Gln)	CASR (E928Q +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231554	NM_000388.4(CASR):c.2756A>G (p.Asn919Ser)	CASR (N919S +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231553	NM_000388.4(CASR):c.2751G>C (p.Lys917Asn)	CASR (K917N +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231552	NM_000388.4(CASR):c.2727C>A (p.Thr909=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3231551	NM_000388.4(CASR):c.2708G>A (p.Gly903Glu)	CASR (G903E +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231550	NM_000388.4(CASR):c.2705T>C (p.Leu902Pro)	CASR (L902P +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231549	NM_000388.4(CASR):c.2700C>T (p.Ser900=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3231548	NM_000388.4(CASR):c.2644A>G (p.Lys882Glu)	CASR (K882E +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231547	NM_000388.4(CASR):c.261T>C (p.Leu87=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3231546	NM_000388.4(CASR):c.2582T>A (p.Leu861His)	CASR (L861H +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance
Select item 3231545	NM_000388.4(CASR):c.255A>G (p.Pro85=)	CASR	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis	GLikely benign
Select item 3231544	NM_000388.4(CASR):c.2545C>G (p.Leu849Val)	CASR (L849V +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis	GUncertain significance

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