CLCA4[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC129930966, LOC129930967 +548 more	Copy number gain	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 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 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 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 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 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 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 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 775566	NM_012128.4(CLCA4):c.405del (p.Asp136fs)	CLCA4 (D136fs)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
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 2281278	NM_012128.4(CLCA4):c.482G>A (p.Arg161Gln)	CLCA4 (R161Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 737467	NM_012128.4(CLCA4):c.895T>C (p.Leu299=)	CLCA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 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 2638912	NM_012128.4(CLCA4):c.1251C>T (p.Asn417=)	CLCA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ACADM, ADGRL2 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
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 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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 67