"Ambry Genetics"[submitter] AND "AK2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279821	NM_001625.4(AK2):c.698_703delinsGACTCATAAACATAAACATAAACTCA (p.Lys233fs)	AK2 (K185fs +1 more)	Indel (frameshift variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1524282	NM_001625.4(AK2):c.661G>A (p.Ala221Thr)	AK2 (A179T +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis +1 more	GUncertain significance
Select item 1488022	NM_001625.4(AK2):c.634G>A (p.Ala212Thr)	AK2 (A164T +3 more)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis +1 more	GUncertain significance
Select item 2252607	NM_001625.4(AK2):c.622T>G (p.Ser208Ala)	AK2 (S166A +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1480201	NM_001625.4(AK2):c.472C>T (p.Pro158Ser)	AK2 (P150S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2623752	NM_001625.4(AK2):c.377T>C (p.Ile126Thr)	AK2 (I78T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279832	NM_001625.4(AK2):c.353G>A (p.Arg118Lys)	AK2 (R118K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 661953	NM_001625.4(AK2):c.330+5G>A	AK2	Single nucleotide variant (intron variant)	Reticular dysgenesis	GPathogenic
Select item 460287	NM_001625.4(AK2):c.277A>G (p.Lys93Glu)	AK2 (K93E +2 more)	Single nucleotide variant (missense variant +1 more)	Reticular dysgenesis +1 more	GUncertain significance
Select item 2322121	NM_001625.4(AK2):c.262G>A (p.Glu88Lys)	AK2 (E40K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 660097	NM_001625.4(AK2):c.94G>A (p.Ala32Thr)	AK2 (A32T)	Single nucleotide variant (missense variant +3 more)	Reticular dysgenesis +1 more	GUncertain significance