Related gene-specific medical variations for Gene (Select 10486) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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)	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 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 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 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 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 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