ClinVar for Gene (Select 10486) - ClinVar

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

Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064269	NM_006366.3(CAP2):c.38G>A (p.Arg13Gln)	CAP2 (R13Q)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2I	GUncertain significance
Select item 2688715	NM_006366.3(CAP2):c.2T>C (p.Met1Thr)	CAP2 (M1T)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy, dilated, 2I	GUncertain significance
Select item 2685196	GRCh37/hg19 6p22.3(chr6:17315838-17457514)x1	CAP2	Copy number loss	not provided	GUncertain significance
Select item 2656254	NM_006366.3(CAP2):c.1003-5T>G	CAP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2605121	NM_006366.3(CAP2):c.1277A>G (p.Asp426Gly)	CAP2 (D314G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600489	NM_006366.3(CAP2):c.59C>T (p.Ser20Leu)	CAP2 (S20L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2597569	NM_006366.3(CAP2):c.832C>T (p.Arg278Cys)	CAP2 (R252C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574651	NM_006366.3(CAP2):c.1288del (p.Cys430fs)	CAP2 (C318fs +2 more)	Deletion	Cardiomyopathy, dilated, 2I	GPathogenic
Select item 2574650	NM_006366.3(CAP2):c.948T>G (p.Tyr316Ter)	CAP2 (Y316* +2 more)	Single nucleotide variant	Cardiomyopathy, dilated, 2I	GPathogenic
Select item 2574649	NM_006366.3(CAP2):c.636+1G>A	CAP2	Single nucleotide variant	Cardiomyopathy, dilated, 2I	GPathogenic
Select item 2566730	NM_006366.3(CAP2):c.373C>T (p.Arg125Trp)	CAP2, LOC101928491 (R125W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522311	NM_006366.3(CAP2):c.443T>C (p.Val148Ala)	CAP2, LOC101928491 (V148A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2443482	NM_006366.3(CAP2):c.608A>G (p.His203Arg)	CAP2 (H177R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2443481	NM_006366.3(CAP2):c.155T>C (p.Leu52Pro)	CAP2 (L52P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2398722	NM_006366.3(CAP2):c.778C>T (p.Arg260Cys)	CAP2 (R148C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358569	NM_006366.3(CAP2):c.614C>T (p.Thr205Met)	CAP2 (T179M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330620	NM_006366.3(CAP2):c.350T>A (p.Ile117Asn)	LOC101928491, CAP2 (I117N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322302	NM_006366.3(CAP2):c.211G>T (p.Val71Leu)	CAP2 (V71L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285102	NM_006366.3(CAP2):c.401C>T (p.Ser134Leu)	LOC101928491, CAP2 (S108L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2280959	NM_006366.3(CAP2):c.1078G>A (p.Glu360Lys)	CAP2 (E248K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279667	NM_006366.3(CAP2):c.442G>C (p.Val148Leu)	LOC101928491, CAP2 (V122L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279666	NM_006366.3(CAP2):c.1318A>G (p.Met440Val)	CAP2 (M328V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275822	NM_006366.3(CAP2):c.655G>A (p.Val219Ile)	CAP2 (V193I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242065	NM_006366.3(CAP2):c.508G>A (p.Val170Ile)	LOC101928491, CAP2 (V170I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220816	NM_006366.3(CAP2):c.946T>C (p.Tyr316His)	CAP2 (Y204H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 1707067	NM_006366.3(CAP2):c.1091T>C (p.Ile364Thr)	CAP2 (I252T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706815	NM_006366.3(CAP2):c.406G>A (p.Val136Ile)	LOC101928491, CAP2 (V110I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679667	NM_006366.3(CAP2):c.86C>A (p.Pro29His)	CAP2 (P29H)	Single nucleotide variant (missense variant)	CAP2-associated dilated cardiomyopathy	GUncertain significance
Select item 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
Select item 1343838	NM_006366.3(CAP2):c.1137A>G (p.Lys379=)	CAP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689105	GRCh37/hg19 6p24.1-22.3(chr6:13248587-18083552)x3	ATXN1, CAP2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 688193	GRCh37/hg19 6p23-22.3(chr6:13910125-22000204)x1	ATXN1, CAP2 +21 more	Copy number loss	not provided	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 442457	GRCh37/hg19 6p23-22.3(chr6:13693852-24225515)x1	ATXN1, CAP2 +27 more	Copy number loss	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 152197	GRCh38/hg38 6p23-22.3(chr6:14958760-18580908)x3	ATXN1, ATXN1-AS1 +162 more	Copy number gain	See cases	GUncertain significance
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic
Select item 148200	GRCh38/hg38 6p23-22.3(chr6:14730556-17554091)x1	ATXN1, ATXN1-AS1 +135 more	Copy number loss	See cases	GLikely pathogenic
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	LINC02522, LINC02525 +823 more	Copy number gain	See cases	GPathogenic
Select item 57174	GRCh38/hg38 6p22.3(chr6:17397932-17966557)x3	CAP2, FAM8A1 +17 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 57