"Ambry Genetics"[submitter] AND "ORM2"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2469119	NM_000608.4(ORM2):c.5C>T (p.Ala2Val)	ORM2 (A2V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590753	NM_000608.4(ORM2):c.49G>A (p.Glu17Lys)	ORM2 (E17K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359019	NM_000608.4(ORM2):c.79G>C (p.Val27Leu)	ORM2 (V27L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465503	NM_000608.4(ORM2):c.100G>A (p.Ala34Thr)	ORM2 (A34T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591802	NM_000608.4(ORM2):c.112C>T (p.Arg38Trp)	ORM2 (R38W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2485868	NM_000608.4(ORM2):c.187C>G (p.Gln63Glu)	AKNA, ORM2 (Q63E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393300	NM_000608.4(ORM2):c.301C>T (p.Arg101Trp)	AKNA, ORM2 (R101W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601472	NM_000608.4(ORM2):c.384G>C (p.Leu128Phe)	AKNA, ORM2 (L128F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2291127	NM_000608.4(ORM2):c.493T>G (p.Cys165Gly)	ORM2, AKNA (C165G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295755	NM_000608.4(ORM2):c.538A>C (p.Lys180Gln)	ORM2, AKNA (K180Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302498	NM_000608.4(ORM2):c.565C>A (p.Gln189Lys)	AKNA, ORM2 (Q189K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222782	NM_000608.4(ORM2):c.571G>A (p.Glu191Lys)	ORM2, AKNA (E191K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464992	NM_000608.4(ORM2):c.596G>A (p.Gly199Glu)	AKNA, ORM2 (G199E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign