"Ambry Genetics"[submitter] AND "CAP1"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2542494	NM_006367.4(CAP1):c.22G>A (p.Val8Ile)	CAP1 (V8I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285499	NM_006367.4(CAP1):c.85C>T (p.Arg29Cys)	CAP1 (R29C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3136998	NM_006367.4(CAP1):c.86G>A (p.Arg29His)	CAP1 (R29H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217315	NM_006367.4(CAP1):c.104C>T (p.Pro35Leu)	CAP1 (P35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263132	NM_006367.4(CAP1):c.155C>T (p.Ala52Val)	CAP1 (A51V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136993	NM_006367.4(CAP1):c.254C>T (p.Ala85Val)	CAP1 (A84V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136994	NM_006367.4(CAP1):c.343G>T (p.Val115Leu)	CAP1 (V114L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263133	NM_006367.4(CAP1):c.355C>T (p.Arg119Trp)	CAP1 (R118W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391155	NM_006367.4(CAP1):c.370G>A (p.Gly124Ser)	CAP1 (G124S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332294	NM_006367.4(CAP1):c.433G>T (p.Ala145Ser)	CAP1 (A145S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603102	NM_006367.4(CAP1):c.485T>C (p.Met162Thr)	CAP1 (M161T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484205	NM_006367.4(CAP1):c.514T>C (p.Tyr172His)	CAP1 (Y171H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561722	NM_006367.4(CAP1):c.722C>T (p.Pro241Leu)	CAP1 (P241L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136996	NM_006367.4(CAP1):c.761G>A (p.Arg254His)	CAP1 (R254H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518924	NM_006367.4(CAP1):c.775G>A (p.Ala259Thr)	CAP1 (A259T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136997	NM_006367.4(CAP1):c.798C>G (p.Ser266Arg)	CAP1 (S266R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136999	NM_006367.4(CAP1):c.905C>T (p.Ala302Val)	CAP1 (A301V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609850	NM_006367.4(CAP1):c.929C>T (p.Ser310Phe)	CAP1 (S309F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137000	NM_006367.4(CAP1):c.938G>A (p.Arg313Gln)	CAP1 (R313Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137001	NM_006367.4(CAP1):c.964C>T (p.Leu322Phe)	CAP1, LOC126805712 (L321F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136991	NM_006367.4(CAP1):c.1069G>A (p.Val357Ile)	CAP1, LOC126805712 (V356I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136992	NM_006367.4(CAP1):c.1078A>G (p.Thr360Ala)	CAP1, LOC126805712 (T359A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345826	NM_006367.4(CAP1):c.1108A>G (p.Ile370Val)	CAP1, LOC126805712 (I369V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 23