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

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Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261647	NM_000665.5(ACHE):c.1711C>G (p.Leu571Val)	ACHE (L483V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261635	NM_000665.5(ACHE):c.1547G>A (p.Arg516His)	ACHE (R582H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272935	NM_000665.5(ACHE):c.1450T>C (p.Phe484Leu)	ACHE (F484L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563353	NM_000665.5(ACHE):c.1415T>C (p.Leu472Pro)	ACHE (L472P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358297	NM_000665.5(ACHE):c.1378G>A (p.Val460Ile)	ACHE (V460I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3136470	NM_000665.5(ACHE):c.1372G>A (p.Ala458Thr)	ACHE (A458T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261641	NM_000665.5(ACHE):c.1289G>A (p.Ser430Asn)	ACHE (S430N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266042	NM_000665.5(ACHE):c.1258G>A (p.Glu420Lys)	ACHE (E420K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136467	NM_000665.5(ACHE):c.1235A>G (p.His412Arg)	ACHE (H412R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136464	NM_000665.5(ACHE):c.1225G>C (p.Val409Leu)	ACHE (V475L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607070	NM_000665.5(ACHE):c.1160G>C (p.Arg387Pro)	ACHE (R387P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256439	NM_000665.5(ACHE):c.914G>A (p.Arg305Gln)	ACHE (R371Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235561	NM_000665.5(ACHE):c.791A>G (p.Asn264Ser)	ACHE (N331S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305779	NM_000665.5(ACHE):c.726G>A (p.Met242Ile)	ACHE (M242I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283523	NM_000665.5(ACHE):c.530T>C (p.Leu177Pro)	ACHE (L244P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295799	NM_000665.5(ACHE):c.493G>A (p.Asp165Asn)	ACHE (D231N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591999	NM_000665.5(ACHE):c.439G>A (p.Val147Ile)	ACHE (V213I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480619	NM_000665.5(ACHE):c.404C>G (p.Pro135Arg)	ACHE (P201R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370792	NM_000665.5(ACHE):c.154C>A (p.Arg52Ser)	ACHE (R118S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618886	NM_000665.5(ACHE):c.82G>A (p.Gly28Arg)	ACHE (G28R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229097	NM_000665.5(ACHE):c.40G>A (p.Ala14Thr)	ACHE (A80T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 21