"Ambry Genetics"[submitter] AND "CA11"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2467072	NM_001217.5(CA11):c.966T>G (p.Asp322Glu)	CA11 (D322E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3136115	NM_001217.5(CA11):c.865C>T (p.Arg289Trp)	CA11 (R289W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299395	NM_001217.5(CA11):c.856G>A (p.Gly286Ser)	CA11 (G286S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601111	NM_001217.5(CA11):c.626G>A (p.Arg209His)	CA11 (R209H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289199	NM_001217.5(CA11):c.613G>A (p.Asp205Asn)	CA11 (D205N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545735	NM_001217.5(CA11):c.571G>A (p.Ala191Thr)	CA11 (A191T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242406	NM_001217.5(CA11):c.547A>G (p.Ile183Val)	CA11 (I183V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319892	NM_001217.5(CA11):c.268A>C (p.Ser90Arg)	CA11 (S90R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294177	NM_001217.5(CA11):c.226A>G (p.Lys76Glu)	CA11 (K76E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516742	NM_001217.5(CA11):c.22A>G (p.Ser8Gly)	CA11 (S8G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance