ClinVar for Gene (Select 22802) - ClinVar

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Links from Gene

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341649	NM_012128.4(CLCA4):c.2475C>T (p.Ser825=)	CLCA4, CLCA4-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3267542	NM_012128.4(CLCA4):c.955G>A (p.Gly319Ser)	CLCA4 (G319S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3267541	NM_012128.4(CLCA4):c.2093C>T (p.Ala698Val)	CLCA4, CLCA4-AS1 (A698V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267540	NM_012128.4(CLCA4):c.1859G>A (p.Gly620Glu)	CLCA4, CLCA4-AS1 (G620E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267539	NM_012128.4(CLCA4):c.809G>T (p.Arg270Ile)	CLCA4 (R270I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267538	NM_012128.4(CLCA4):c.2195G>A (p.Arg732Gln)	CLCA4, CLCA4-AS1 (R732Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267537	NM_012128.4(CLCA4):c.1592C>G (p.Ser531Cys)	CLCA4, CLCA4-AS1 (S531C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267536	NM_012128.4(CLCA4):c.2143C>G (p.Pro715Ala)	CLCA4, CLCA4-AS1 (P715A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267535	NM_012128.4(CLCA4):c.2143C>T (p.Pro715Ser)	CLCA4, CLCA4-AS1 (P715S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267533	NM_012128.4(CLCA4):c.455T>G (p.Leu152Arg)	CLCA4 (L152R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267532	NM_012128.4(CLCA4):c.1519G>C (p.Val507Leu)	CLCA4, CLCA4-AS1 (V507L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267531	NM_012128.4(CLCA4):c.1364G>C (p.Gly455Ala)	CLCA4, CLCA4-AS1 (G455A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267530	NM_012128.4(CLCA4):c.428A>G (p.Gln143Arg)	CLCA4 (Q143R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267529	NM_012128.4(CLCA4):c.2696C>T (p.Thr899Met)	CLCA4, CLCA4-AS1 (T899M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3234621	NM_012128.4(CLCA4):c.1369C>T (p.His457Tyr)	CLCA4, CLCA4-AS1 (H457Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3145380	NM_012128.4(CLCA4):c.983A>G (p.Gln328Arg)	CLCA4 (Q328R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145379	NM_012128.4(CLCA4):c.97G>A (p.Asp33Asn)	CLCA4 (D33N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145378	NM_012128.4(CLCA4):c.820G>A (p.Glu274Lys)	CLCA4 (E274K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145377	NM_012128.4(CLCA4):c.761C>A (p.Thr254Asn)	CLCA4 (T254N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3145376	NM_012128.4(CLCA4):c.2458G>T (p.Ala820Ser)	CLCA4, CLCA4-AS1 (A820S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145375	NM_012128.4(CLCA4):c.2206G>A (p.Gly736Arg)	CLCA4, CLCA4-AS1 (G736R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145374	NM_012128.4(CLCA4):c.176C>T (p.Ala59Val)	CLCA4 (A59V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145373	NM_012128.4(CLCA4):c.1685T>A (p.Val562Glu)	CLCA4, CLCA4-AS1 (V562E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145372	NM_012128.4(CLCA4):c.1634T>G (p.Val545Gly)	CLCA4, CLCA4-AS1 (V545G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145371	NM_012128.4(CLCA4):c.1618A>G (p.Met540Val)	CLCA4, CLCA4-AS1 (M540V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145370	NM_012128.4(CLCA4):c.1426C>T (p.Leu476Phe)	CLCA4, CLCA4-AS1 (L476F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145369	NM_012128.4(CLCA4):c.1310C>G (p.Ala437Gly)	CLCA4, CLCA4-AS1 (A437G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3145367	NM_012128.4(CLCA4):c.1036A>T (p.Met346Leu)	CLCA4 (M346L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ACADM, ADGRL2 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2638912	NM_012128.4(CLCA4):c.1251C>T (p.Asn417=)	CLCA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2623192	NM_012128.4(CLCA4):c.565G>A (p.Ala189Thr)	CLCA4 (A189T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2606516	NM_012128.4(CLCA4):c.2236A>G (p.Ser746Gly)	CLCA4, CLCA4-AS1 (S746G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592351	NM_012128.4(CLCA4):c.883C>T (p.Pro295Ser)	CLCA4 (P295S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589385	NM_012128.4(CLCA4):c.1268T>C (p.Ile423Thr)	CLCA4 (I423T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589171	NM_012128.4(CLCA4):c.1529A>G (p.Asp510Gly)	CLCA4, CLCA4-AS1 (D510G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569861	NM_012128.4(CLCA4):c.2324C>T (p.Thr775Ile)	CLCA4, CLCA4-AS1 (T775I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554237	NM_012128.4(CLCA4):c.1321G>A (p.Ala441Thr)	CLCA4, CLCA4-AS1 (A441T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2547634	NM_012128.4(CLCA4):c.1063A>G (p.Ile355Val)	CLCA4 (I355V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541999	NM_012128.4(CLCA4):c.334G>A (p.Gly112Ser)	CLCA4 (G112S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535985	NM_012128.4(CLCA4):c.743A>T (p.Glu248Val)	CLCA4 (E248V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518143	NM_012128.4(CLCA4):c.1058C>T (p.Ala353Val)	CLCA4 (A353V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487799	NM_012128.4(CLCA4):c.2013T>G (p.Asn671Lys)	CLCA4, CLCA4-AS1 (N671K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465232	NM_012128.4(CLCA4):c.2228A>T (p.Gln743Leu)	CLCA4, CLCA4-AS1 (Q743L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458814	NM_012128.4(CLCA4):c.115G>C (p.Asp39His)	CLCA4 (D39H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401878	NM_012128.4(CLCA4):c.1103G>A (p.Arg368Lys)	CLCA4 (R368K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381127	NM_012128.4(CLCA4):c.838G>A (p.Glu280Lys)	CLCA4 (E280K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379657	NM_012128.4(CLCA4):c.931C>T (p.Leu311Phe)	CLCA4 (L311F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362923	NM_012128.4(CLCA4):c.964C>T (p.Arg322Cys)	CLCA4 (R322C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348398	NM_012128.4(CLCA4):c.1619T>C (p.Met540Thr)	CLCA4, CLCA4-AS1 (M540T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345055	NM_012128.4(CLCA4):c.1142G>A (p.Gly381Glu)	CLCA4 (G381E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344425	NM_012128.4(CLCA4):c.2362C>T (p.Arg788Cys)	CLCA4, CLCA4-AS1 (R788C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342946	NM_012128.4(CLCA4):c.401C>T (p.Thr134Ile)	CLCA4 (T134I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341764	NM_012128.4(CLCA4):c.1831A>G (p.Met611Val)	CLCA4, CLCA4-AS1 (M611V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326408	NM_012128.4(CLCA4):c.1730C>T (p.Thr577Ile)	CLCA4, CLCA4-AS1 (T577I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2324120	NM_012128.4(CLCA4):c.2134G>A (p.Ala712Thr)	CLCA4, CLCA4-AS1 (A712T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318690	NM_012128.4(CLCA4):c.2725G>A (p.Val909Ile)	CLCA4, CLCA4-AS1 (V909I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302696	NM_012128.4(CLCA4):c.424A>C (p.Lys142Gln)	CLCA4 (K142Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288623	NM_012128.4(CLCA4):c.346C>A (p.Pro116Thr)	CLCA4 (P116T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283202	NM_012128.4(CLCA4):c.2018G>A (p.Arg673Lys)	CLCA4, CLCA4-AS1 (R673K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281278	NM_012128.4(CLCA4):c.482G>A (p.Arg161Gln)	CLCA4 (R161Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281103	NM_012128.4(CLCA4):c.2681G>T (p.Gly894Val)	CLCA4, CLCA4-AS1 (G894V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269635	NM_012128.4(CLCA4):c.1234A>G (p.Thr412Ala)	CLCA4 (T412A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235659	NM_012128.4(CLCA4):c.2654C>A (p.Pro885His)	CLCA4, CLCA4-AS1 (P885H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214565	NM_012128.4(CLCA4):c.1414G>A (p.Ala472Thr)	CLCA4, CLCA4-AS1 (A472T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213475	NM_012128.4(CLCA4):c.1277T>A (p.Val426Glu)	CLCA4 (V426E)	Single nucleotide variant (missense variant +1 more)	not specified	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 1334981	NM_012128.4(CLCA4):c.1453C>T (p.Gln485Ter)	CLCA4, CLCA4-AS1 (Q485*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
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 788077	NM_012128.4(CLCA4):c.1474A>G (p.Ser492Gly)	CLCA4, CLCA4-AS1 (S492G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 775566	NM_012128.4(CLCA4):c.405del (p.Asp136fs)	CLCA4 (D136fs)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 773148	NM_012128.4(CLCA4):c.339A>G (p.Arg113=)	CLCA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 737467	NM_012128.4(CLCA4):c.895T>C (p.Leu299=)	CLCA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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	AGL, AGMAT +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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +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	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 81