"Ambry Genetics"[submitter] AND "CA6"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3136145	NM_001215.4(CA6):c.20T>C (p.Leu7Pro)	CA6 (L7P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262591	NM_001215.4(CA6):c.38T>C (p.Leu13Pro)	CA6 (L13P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328550	NM_001215.4(CA6):c.40G>A (p.Gly14Ser)	CA6 (G14S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262592	NM_001215.4(CA6):c.56A>T (p.His19Leu)	CA6 (H19L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249328	NM_001215.4(CA6):c.140A>G (p.Gln47Arg)	CA6 (Q47R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136143	NM_001215.4(CA6):c.151A>G (p.Asn51Asp)	CA6 (N51D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3136144	NM_001215.4(CA6):c.169G>T (p.Val57Leu)	CA6 (V57L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366258	NM_001215.4(CA6):c.176A>G (p.Tyr59Cys)	CA6 (Y59C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305302	NM_001215.4(CA6):c.329T>A (p.Met110Lys)	CA6 (M110K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359996	NM_001215.4(CA6):c.337C>T (p.His113Tyr)	CA6 (H113Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543077	NM_001215.4(CA6):c.382G>A (p.Val128Met)	CA6 (V68M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406968	NM_001215.4(CA6):c.421C>A (p.His141Asn)	CA6 (H13N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361284	NM_001215.4(CA6):c.481G>A (p.Val161Ile)	CA6 (V101I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136146	NM_001215.4(CA6):c.601G>A (p.Val201Ile)	CA6 (V141I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3136147	NM_001215.4(CA6):c.682G>A (p.Val228Ile)	CA6 (V100I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474254	NM_001215.4(CA6):c.727C>G (p.Gln243Glu)	CA6 (Q183E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136148	NM_001215.4(CA6):c.730G>T (p.Val244Phe)	CA6 (V184F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136149	NM_001215.4(CA6):c.806T>C (p.Leu269Pro)	CA6 (L141P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281485	NM_001215.4(CA6):c.850A>G (p.Thr284Ala)	CA6 (T156A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance