"Ambry Genetics"[submitter] AND "CA12"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2345650	NM_001218.5(CA12):c.1057C>T (p.His353Tyr)	CA12 (H342Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213823	NM_001218.5(CA12):c.1037C>A (p.Thr346Asn)	CA12 (T275N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262571	NM_001218.5(CA12):c.890C>T (p.Ala297Val)	CA12 (A297V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369241	NM_001218.5(CA12):c.805G>C (p.Glu269Gln)	CA12 (E209Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239660	NM_001218.5(CA12):c.689G>A (p.Cys230Tyr)	CA12 (C170Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254238	NM_001218.5(CA12):c.664C>T (p.Arg222Trp)	CA12 (R162W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340408	NM_001218.5(CA12):c.646G>C (p.Ala216Pro)	CA12 (A156P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136119	NM_001218.5(CA12):c.592C>G (p.Gln198Glu)	CA12 (Q198E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136118	NM_001218.5(CA12):c.557T>C (p.Ile186Thr)	CA12 (I186T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232521	NM_001218.5(CA12):c.521T>C (p.Ile174Thr)	CA12 (I174T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136117	NM_001218.5(CA12):c.505G>A (p.Val169Ile)	CA12 (V109I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232162	NM_001218.5(CA12):c.502G>A (p.Ala168Thr)	CA12 (A108T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479700	NM_001218.5(CA12):c.424G>A (p.Ala142Thr)	CA12 (A82T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546113	NM_001218.5(CA12):c.401C>G (p.Thr134Ser)	CA12 (T134S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2563465	NM_001218.5(CA12):c.383C>T (p.Pro128Leu)	CA12 (P128L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262572	NM_001218.5(CA12):c.374C>T (p.Pro125Leu)	CA12 (P65L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408413	NM_001218.5(CA12):c.184A>C (p.Ser62Arg)	CA12 (S62R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3136116	NM_001218.5(CA12):c.161T>C (p.Leu54Pro)	CA12 (L54P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2234453	NM_001218.5(CA12):c.150T>G (p.Cys50Trp)	CA12 (C50W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519256	NM_001218.5(CA12):c.143C>T (p.Pro48Leu)	CA12 (P48L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3262574	NM_001218.5(CA12):c.142C>G (p.Pro48Ala)	CA12 (P48A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2493391	NM_001218.5(CA12):c.43G>T (p.Val15Leu)	CA12 (V15L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2455681	NM_001218.5(CA12):c.32T>A (p.Val11Glu)	CA12 (V11E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262576	NM_001218.5(CA12):c.28G>A (p.Ala10Thr)	CA12 (A10T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262575	NM_001218.5(CA12):c.7C>G (p.Arg3Gly)	CA12 (R3G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 25