"Ambry Genetics"[submitter] AND "CA1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3136108	NM_001128831.4(CA1):c.770T>C (p.Val257Ala)	CA1 (V191A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603303	NM_001128831.4(CA1):c.719T>C (p.Val240Ala)	CA1 (V127A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384158	NM_001128831.4(CA1):c.694T>A (p.Ser232Thr)	CA1 (S166T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399323	NM_001128831.4(CA1):c.676C>A (p.Gln226Lys)	CA1 (Q160K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589121	NM_001128831.4(CA1):c.645G>C (p.Glu215Asp)	CA1 (E215D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380784	NM_001128831.4(CA1):c.550A>G (p.Thr184Ala)	CA1 (T118A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401452	NM_001128831.4(CA1):c.352G>A (p.Glu118Lys)	CA1 (E52K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272471	NM_001128831.4(CA1):c.314G>A (p.Gly105Asp)	CA1 (G105D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615838	NM_001128831.4(CA1):c.307G>A (p.Glu103Lys)	CA1 (E37K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605156	NM_001128831.4(CA1):c.147T>A (p.Ser49Arg)	CA1 (S49R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136109	NM_001128831.4(CA1):c.89C>G (p.Ser30Cys)	CA1 (S30C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136106	NM_001128831.4(CA1):c.65C>T (p.Pro22Leu)	CA1 (P22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365877	NM_001128831.4(CA1):c.64C>T (p.Pro22Ser)	CA1 (P22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance