"Ambry Genetics"[submitter] AND "AK3"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2532135	NM_016282.4(AK3):c.668C>T (p.Ala223Val)	AK3 (A153V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323524	NM_016282.4(AK3):c.640A>G (p.Thr214Ala)	AK3 (T144A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103386	NM_016282.4(AK3):c.617C>G (p.Pro206Arg)	AK3 (P206R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332739	NM_016282.4(AK3):c.567A>C (p.Lys189Asn)	AK3 (K149N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103383	NM_016282.4(AK3):c.564G>C (p.Gln188His)	AK3 (Q188H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279843	NM_016282.4(AK3):c.532G>C (p.Asp178His)	AK3 (D108H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384254	NM_016282.4(AK3):c.511A>C (p.Lys171Gln)	AK3 (K131Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568540	NM_016282.4(AK3):c.496C>T (p.Pro166Ser)	AK3 (P126S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279863	NM_016282.4(AK3):c.482G>T (p.Arg161Leu)	AK3 (R91L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463684	NM_016282.4(AK3):c.482G>A (p.Arg161His)	AK3 (R91H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622194	NM_016282.4(AK3):c.440C>G (p.Thr147Ser)	AK3 (T77S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279873	NM_016282.4(AK3):c.430C>T (p.Pro144Ser)	AK3 (P104S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103378	NM_016282.4(AK3):c.429C>G (p.Asn143Lys)	AK3 (N143K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103373	NM_016282.4(AK3):c.426C>G (p.Phe142Leu)	AK3 (F72L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103369	NM_016282.4(AK3):c.407G>A (p.Arg136Gln)	AK3 (R66Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532416	NM_016282.4(AK3):c.382C>G (p.Arg128Gly)	AK3 (R128G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524030	NM_016282.4(AK3):c.370C>T (p.Arg124Cys)	AK3 (R54C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528562	NM_016282.4(AK3):c.365A>G (p.Lys122Arg)	AK3 (K52R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103360	NM_016282.4(AK3):c.358G>A (p.Val120Ile)	AK3 (V80I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543932	NM_016282.4(AK3):c.223G>A (p.Ala75Thr)	AK3 (A5T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372269	NM_016282.4(AK3):c.217C>T (p.Arg73Trp)	AK3 (R3W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357165	NM_016282.4(AK3):c.203A>T (p.Asp68Val)	AK3 (D68V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3103357	NM_016282.4(AK3):c.200C>T (p.Pro67Leu)	AK3 (P67L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3279853	NM_016282.4(AK3):c.149C>T (p.Thr50Ile)	AK3 (T50I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403160	NM_016282.4(AK3):c.13G>T (p.Ala5Ser)	AK3 (A5S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 25