"Ambry Genetics"[submitter] AND "AK1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2209407	NM_000476.3(AK1):c.511C>T (p.Arg171Cys)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R187C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3103330	NM_000476.3(AK1):c.506T>C (p.Ile169Thr)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (I185T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2522727	NM_000476.3(AK1):c.412C>T (p.Arg138Cys)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R154C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2332217	NM_000476.3(AK1):c.409G>A (p.Gly137Arg)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G137R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 3279810	NM_000476.3(AK1):c.395G>T (p.Arg132Leu)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R148L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3103321	NM_000476.3(AK1):c.266G>T (p.Gly89Val)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G89V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2250380	NM_000476.3(AK1):c.199G>T (p.Val67Phe)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (V83F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2482817	NM_000476.3(AK1):c.161G>T (p.Gly54Val)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G70V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2384744	NM_000476.3(AK1):c.148G>A (p.Gly50Ser)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G50S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2364263	NM_000476.3(AK1):c.55T>G (p.Ser19Ala)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (S19A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance