ClinVar for Gene (Select 9635) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3025151	NM_006536.7(CLCA2):c.2089A>G (p.Ile697Val)	CLCA2 (I697V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ADGRL4, AK5 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2638911	NM_006536.7(CLCA2):c.1574T>C (p.Met525Thr)	CLCA2 (M525T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638910	NM_006536.7(CLCA2):c.1063G>T (p.Asp355Tyr)	CLCA2 (D355Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638909	NM_006536.7(CLCA2):c.909G>A (p.Ser303=)	CLCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638908	NM_006536.7(CLCA2):c.585-4T>G	CLCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2569860	NM_006536.7(CLCA2):c.1372C>G (p.Arg458Gly)	CLCA2 (R458G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549443	NM_006536.7(CLCA2):c.1286G>C (p.Cys429Ser)	CLCA2 (C429S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537433	NM_006536.7(CLCA2):c.808T>C (p.Cys270Arg)	CLCA2 (C270R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529487	NM_006536.7(CLCA2):c.946C>G (p.Leu316Val)	CLCA2 (L316V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526673	NM_006536.7(CLCA2):c.358C>T (p.His120Tyr)	CLCA2 (H120Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524080	NM_006536.7(CLCA2):c.2168T>C (p.Met723Thr)	CLCA2 (M723T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509774	NM_006536.7(CLCA2):c.473G>C (p.Arg158Pro)	CLCA2 (R158P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493489	NM_006536.7(CLCA2):c.2196A>C (p.Arg732Ser)	CLCA2 (R732S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488145	NM_006536.7(CLCA2):c.1562G>T (p.Gly521Val)	CLCA2 (G521V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486130	NM_006536.7(CLCA2):c.232A>G (p.Arg78Gly)	CLCA2 (R78G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461425	NM_006536.7(CLCA2):c.2548C>T (p.His850Tyr)	CLCA2 (H850Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461210	NM_006536.7(CLCA2):c.960C>G (p.Ser320Arg)	CLCA2 (S320R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404274	NM_006536.7(CLCA2):c.46G>T (p.Val16Leu)	CLCA2 (V16L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402786	NM_006536.7(CLCA2):c.856C>T (p.His286Tyr)	CLCA2 (H286Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401211	NM_006536.7(CLCA2):c.1063G>A (p.Asp355Asn)	CLCA2 (D355N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2397643	NM_006536.7(CLCA2):c.892C>T (p.Pro298Ser)	CLCA2 (P298S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396711	NM_006536.7(CLCA2):c.1343C>T (p.Ser448Phe)	CLCA2 (S448F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387136	NM_006536.7(CLCA2):c.908C>T (p.Ser303Leu)	CLCA2 (S303L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380833	NM_006536.7(CLCA2):c.1001C>G (p.Ala334Gly)	CLCA2 (A334G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371865	NM_006536.7(CLCA2):c.2134G>A (p.Val712Ile)	CLCA2 (V712I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371688	NM_006536.7(CLCA2):c.1787G>A (p.Arg596His)	CLCA2 (R596H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363745	NM_006536.7(CLCA2):c.2668C>T (p.Pro890Ser)	CLCA2 (P890S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353572	NM_006536.7(CLCA2):c.1034T>C (p.Ile345Thr)	CLCA2 (I345T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350475	NM_006536.7(CLCA2):c.479G>A (p.Arg160Gln)	CLCA2 (R160Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345827	NM_006536.7(CLCA2):c.1055C>T (p.Ala352Val)	CLCA2 (A352V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2341035	NM_006536.7(CLCA2):c.1846C>T (p.Leu616Phe)	CLCA2 (L616F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332993	NM_006536.7(CLCA2):c.359A>G (p.His120Arg)	CLCA2 (H120R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330380	NM_006536.7(CLCA2):c.1475A>G (p.Gln492Arg)	CLCA2 (Q492R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330337	NM_006536.7(CLCA2):c.536A>G (p.Asn179Ser)	CLCA2 (N179S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321637	NM_006536.7(CLCA2):c.745G>T (p.Val249Leu)	CLCA2 (V249L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313384	NM_006536.7(CLCA2):c.497G>C (p.Trp166Ser)	CLCA2 (W166S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303104	NM_006536.7(CLCA2):c.995A>G (p.Gln332Arg)	CLCA2 (Q332R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297314	NM_006536.7(CLCA2):c.2039C>T (p.Ala680Val)	CLCA2 (A680V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285411	NM_006536.7(CLCA2):c.2705T>C (p.Ile902Thr)	CLCA2 (I902T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275854	NM_006536.7(CLCA2):c.1823A>C (p.Glu608Ala)	CLCA2 (E608A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265365	NM_006536.7(CLCA2):c.151G>A (p.Val51Ile)	CLCA2 (V51I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258993	NM_006536.7(CLCA2):c.505C>T (p.Leu169Phe)	CLCA2 (L169F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256954	NM_006536.7(CLCA2):c.1935G>T (p.Glu645Asp)	CLCA2 (E645D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252405	NM_006536.7(CLCA2):c.2215T>G (p.Trp739Gly)	CLCA2 (W739G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252086	NM_006536.7(CLCA2):c.52C>G (p.Leu18Val)	CLCA2 (L18V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238098	NM_006536.7(CLCA2):c.1345G>A (p.Ala449Thr)	CLCA2 (A449T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227378	NM_006536.7(CLCA2):c.2251T>A (p.Ser751Thr)	CLCA2 (S751T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223015	NM_006536.7(CLCA2):c.2345C>T (p.Thr782Ile)	CLCA2 (T782I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210663	NM_006536.7(CLCA2):c.2251T>C (p.Ser751Pro)	CLCA2 (S751P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206905	NM_006536.7(CLCA2):c.2624A>G (p.Gln875Arg)	CLCA2 (Q875R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 1248824	NM_006536.7(CLCA2):c.2526A>G (p.Gln842=)	CLCA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 979897	GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3	LMO4, CLCA4 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 979892	GRCh37/hg19 1p22.3(chr1:86714345-86906191)x1	ODF2L, CLCA2	Copy number loss	not provided	GUncertain significance
Select item 979890	GRCh37/hg19 1p22.3(chr1:86702066-86902902)x3	ODF2L, CLCA2	Copy number gain	not provided	GUncertain significance
Select item 979888	GRCh37/hg19 1p22.3(chr1:86441405-86925675)x3	ODF2L, CLCA2 +1 more	Copy number gain	not provided	GLikely benign
Select item 783291	NM_006536.7(CLCA2):c.2535G>A (p.Thr845=)	CLCA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773147	NM_006536.7(CLCA2):c.465C>T (p.Tyr155=)	CLCA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 747892	NM_006536.7(CLCA2):c.522C>T (p.Phe174=)	CLCA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 149325	GRCh38/hg38 1p22.3-22.2(chr1:86228890-88466303)x1	CLCA1, CLCA2 +47 more	Copy number loss	See cases	GUncertain significance
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC126805769, LOC126805770 +548 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 71