CAP2[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 148200	GRCh38/hg38 6p23-22.3(chr6:14730556-17554091)x1	LOC129995876, LOC129995877 +135 more	Copy number loss	See cases	GLikely pathogenic
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 57174	GRCh38/hg38 6p22.3(chr6:17397932-17966557)x3	CAP2, FAM8A1 +17 more	Copy number gain	See cases	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 3064269	NM_006366.3(CAP2):c.38G>A (p.Arg13Gln)	CAP2 (R13Q)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2I	GUncertain significance
Select item 3137007	NM_006366.3(CAP2):c.50G>A (p.Arg17His)	CAP2 (R17H)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2I +1 more	GUncertain significance
Select item 2600489	NM_006366.3(CAP2):c.59C>T (p.Ser20Leu)	CAP2 (S20L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3137002	NM_006366.3(CAP2):c.110G>A (p.Gly37Asp)	CAP2 (G37D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137003	NM_006366.3(CAP2):c.124G>A (p.Val42Met)	CAP2 (V42M)	Single nucleotide variant (missense variant)	not specified	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 3137005	NM_006366.3(CAP2):c.159G>A (p.Met53Ile)	CAP2 (M53I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322302	NM_006366.3(CAP2):c.211G>T (p.Val71Leu)	CAP2 (V71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330620	NM_006366.3(CAP2):c.350T>A (p.Ile117Asn)	CAP2, LOC101928491 (I117N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2566730	NM_006366.3(CAP2):c.373C>T (p.Arg125Trp)	CAP2, LOC101928491 (R125W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285102	NM_006366.3(CAP2):c.401C>T (p.Ser134Leu)	CAP2, LOC101928491 (S108L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2279667	NM_006366.3(CAP2):c.442G>C (p.Val148Leu)	CAP2, LOC101928491 (V122L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3137006	NM_006366.3(CAP2):c.484G>A (p.Ala162Thr)	CAP2, LOC101928491 (A162T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242065	NM_006366.3(CAP2):c.508G>A (p.Val170Ile)	CAP2, LOC101928491 (V170I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263136	NM_006366.3(CAP2):c.539G>C (p.Arg180Pro)	CAP2 (R180P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2358569	NM_006366.3(CAP2):c.614C>T (p.Thr205Met)	CAP2 (T179M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275822	NM_006366.3(CAP2):c.655G>A (p.Val219Ile)	CAP2 (V193I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263134	NM_006366.3(CAP2):c.703C>G (p.Pro235Ala)	CAP2 (P123A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137008	NM_006366.3(CAP2):c.751G>A (p.Gly251Ser)	CAP2 (G225S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398722	NM_006366.3(CAP2):c.778C>T (p.Arg260Cys)	CAP2 (R148C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597569	NM_006366.3(CAP2):c.832C>T (p.Arg278Cys)	CAP2 (R252C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263135	NM_006366.3(CAP2):c.916C>T (p.His306Tyr)	CAP2 (H280Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220816	NM_006366.3(CAP2):c.946T>C (p.Tyr316His)	CAP2 (Y204H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2656254	NM_006366.3(CAP2):c.1003-5T>G	CAP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2280959	NM_006366.3(CAP2):c.1078G>A (p.Glu360Lys)	CAP2 (E248K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1343838	NM_006366.3(CAP2):c.1137A>G (p.Lys379=)	CAP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3137004	NM_006366.3(CAP2):c.1250A>G (p.Glu417Gly)	CAP2 (E391G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605121	NM_006366.3(CAP2):c.1277A>G (p.Asp426Gly)	CAP2 (D314G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279666	NM_006366.3(CAP2):c.1318A>G (p.Met440Val)	CAP2 (M328V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685196	GRCh37/hg19 6p22.3(chr6:17315838-17457514)x1	CAP2	Copy number loss	not provided	GUncertain significance
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 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +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 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

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Items: 58