"Ambry Genetics"[submitter] AND "CA2"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 363833	NM_000067.3(CA2):c.40G>A (p.Glu14Lys)	CA2 (E14K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2473872	NM_000067.3(CA2):c.58T>C (p.Phe20Leu)	CA2 (F20L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1925947	NM_000067.3(CA2):c.124C>A (p.Pro42Thr)	CA2 (P42T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2896946	NM_000067.3(CA2):c.157C>G (p.Gln53Glu)	CA2 (Q53E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2235964	NM_000067.3(CA2):c.364C>T (p.His122Tyr)	CA2 (H122Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359995	NM_000067.3(CA2):c.409C>A (p.Pro137Thr)	CA2 (P137T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1399500	NM_000067.3(CA2):c.433A>G (p.Ile145Val)	CA2 (I145V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2623052	NM_000067.3(CA2):c.453C>A (p.Ser151Arg)	CA2 (S151R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287479	NM_000067.3(CA2):c.514A>G (p.Ser172Gly)	CA2 (S172G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2177526	NM_000067.3(CA2):c.537T>G (p.Asp179Glu)	CA2 (D179E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2514047	NM_000067.3(CA2):c.542G>A (p.Arg181His)	CA2 (R181H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2085687	NM_000067.3(CA2):c.654C>G (p.Ser218Arg)	CA2 (S117R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 198387	NM_000067.3(CA2):c.677G>A (p.Arg226His)	CA2 (R226H +1 more)	Single nucleotide variant (missense variant)	Osteopetrosis with renal tubular acidosis +2 more	GUncertain significance
Select item 2322490	NM_000067.3(CA2):c.710A>C (p.Glu237Ala)	CA2 (E136A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136127	NM_000067.3(CA2):c.755A>G (p.Asn252Ser)	CA2 (N151S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184375	NM_000067.3(CA2):c.779A>G (p.Lys260Arg)	CA2 (K260R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance