"Ambry Genetics"[submitter] AND "GASK1B-AS1"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2591415	NM_001128424.2(GASK1B):c.557C>T (p.Pro186Leu)	GASK1B-AS1, GASK1B (P186L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476458	NM_001128424.2(GASK1B):c.524T>C (p.Ile175Thr)	GASK1B, GASK1B-AS1 (I175T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2568196	NM_001128424.2(GASK1B):c.504G>C (p.Gln168His)	GASK1B, GASK1B-AS1 (Q168H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529869	NM_001128424.2(GASK1B):c.445T>C (p.Ser149Pro)	GASK1B, GASK1B-AS1 (S149P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2560969	NM_001128424.2(GASK1B):c.194C>A (p.Ala65Glu)	GASK1B, GASK1B-AS1 (A65E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532379	NM_001128424.2(GASK1B):c.37T>A (p.Trp13Arg)	GASK1B, GASK1B-AS1 +1 more (W13R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540122	NM_001128424.2(GASK1B):c.31A>G (p.Ile11Val)	GASK1B, GASK1B-AS1 +1 more (I11V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance