"Ambry Genetics"[submitter] AND "HACE1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2274608	NM_020771.4(HACE1):c.2605C>A (p.Leu869Ile)	HACE1 (L791I +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483077	NM_020771.4(HACE1):c.2422A>G (p.Arg808Gly)	HACE1 (R614G +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205408	NM_020771.4(HACE1):c.2273A>G (p.Asn758Ser)	HACE1 (N596S +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309600	NM_020771.4(HACE1):c.1925G>T (p.Arg642Leu)	HACE1 (R480L +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230663	NM_020771.4(HACE1):c.1832C>T (p.Pro611Leu)	HACE1 (P350L +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332469	NM_020771.4(HACE1):c.1684A>G (p.Ile562Val)	HACE1 (I400V +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301247	NM_020771.4(HACE1):c.1640G>A (p.Arg547Lys)	HACE1 (R353K +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3104110	NM_020771.4(HACE1):c.1455A>C (p.Glu485Asp)	HACE1 (E485D +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1362196	NM_020771.4(HACE1):c.1390T>A (p.Ser464Thr)	HACE1 (S302T +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2488633	NM_020771.4(HACE1):c.1303C>A (p.Gln435Lys)	HACE1 (Q174K +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334766	NM_020771.4(HACE1):c.1237C>G (p.Pro413Ala)	HACE1 (P219A +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295303	NM_020771.4(HACE1):c.1193A>G (p.Gln398Arg)	HACE1 (Q230R +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3104109	NM_020771.4(HACE1):c.1162A>G (p.Ile388Val)	HACE1 (I220V +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3104108	NM_020771.4(HACE1):c.1124C>A (p.Ala375Asp)	HACE1 (A278D +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2196015	NM_020771.4(HACE1):c.825A>C (p.Gln275His)	HACE1 (Q113H +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2231477	NM_020771.4(HACE1):c.806G>A (p.Arg269Gln)	HACE1 (R225Q +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3104113	NM_020771.4(HACE1):c.712C>A (p.Gln238Lys)	HACE1 (Q141K +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2480955	NM_020771.4(HACE1):c.560G>T (p.Gly187Val)	HACE1 (G109V +4 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2228107	NM_020771.4(HACE1):c.422A>T (p.Asn141Ile)	HACE1 (M1L +2 more)	Single nucleotide variant (missense variant +4 more)	Inborn genetic diseases	GUncertain significance
Select item 3104112	NM_020771.4(HACE1):c.359A>G (p.Tyr120Cys)	HACE1 (Y120C +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2245069	NM_020771.4(HACE1):c.357A>C (p.Glu119Asp)	HACE1 (E119D +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2217643	NM_020771.4(HACE1):c.281A>G (p.Gln94Arg)	HACE1 (Q94R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1978890	NM_020771.4(HACE1):c.23T>C (p.Leu8Pro)	HACE1, LOC113121301 (L8P)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1445062	NM_020771.4(HACE1):c.-25_-5dup	HACE1, LOC113121301	Duplication (inframe_insertion +3 more)	not provided +1 more	GUncertain significance

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Items: 24