ClinVar for Gene (Select 101928491) - 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 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 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 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	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 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 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