"Ambry Genetics"[submitter] AND "CA7"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2588287	NM_005182.3(CA7):c.28G>A (p.Gly10Ser)	CA7 (G10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262594	NM_005182.3(CA7):c.217A>G (p.Asn73Asp)	CA7 (N73D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136150	NM_005182.3(CA7):c.253C>A (p.Pro85Thr)	CA7 (P29T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277301	NM_005182.3(CA7):c.259G>A (p.Glu87Lys)	CA7 (E87K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136151	NM_005182.3(CA7):c.310G>A (p.Asp104Asn)	CA7 (D48N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486127	NM_005182.3(CA7):c.329C>T (p.Thr110Met)	CA7 (T54M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347280	NM_005182.3(CA7):c.496C>T (p.Leu166Phe)	CA7 (L110F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262595	NM_005182.3(CA7):c.571C>T (p.Arg191Trp)	CA7 (R135W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550834	NM_005182.3(CA7):c.575A>G (p.His192Arg)	CA7 (H192R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290422	NM_005182.3(CA7):c.767G>A (p.Arg256His)	CA7 (R200H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399803	NM_005182.3(CA7):c.788G>A (p.Arg263Gln)	CA7 (R263Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance