Related gene-specific medical variations for Gene (Select 80709) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303515	NM_000608.4(ORM2):c.197T>A (p.Phe66Tyr)	AKNA, ORM2 (F66Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303513	NM_000608.4(ORM2):c.529G>A (p.Asp177Asn)	AKNA, ORM2 (D177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303512	NM_000608.4(ORM2):c.389T>C (p.Phe130Ser)	AKNA, ORM2 (F130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206977	NM_000608.4(ORM2):c.490G>C (p.Asp164His)	AKNA, ORM2 (D164H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659443	NM_000608.4(ORM2):c.405C>T (p.Asp135=)	AKNA, ORM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2601472	NM_000608.4(ORM2):c.384G>C (p.Leu128Phe)	AKNA, ORM2 (L128F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2485868	NM_000608.4(ORM2):c.187C>G (p.Gln63Glu)	AKNA, ORM2 (Q63E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464992	NM_000608.4(ORM2):c.596G>A (p.Gly199Glu)	AKNA, ORM2 (G199E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393300	NM_000608.4(ORM2):c.301C>T (p.Arg101Trp)	AKNA, ORM2 (R101W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302498	NM_000608.4(ORM2):c.565C>A (p.Gln189Lys)	AKNA, ORM2 (Q189K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295755	NM_000608.4(ORM2):c.538A>C (p.Lys180Gln)	AKNA, ORM2 (K180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291127	NM_000608.4(ORM2):c.493T>G (p.Cys165Gly)	AKNA, ORM2 (C165G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222782	NM_000608.4(ORM2):c.571G>A (p.Glu191Lys)	AKNA, ORM2 (E191K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1696716	NM_001317950.2(AKNA):c.1174_1184del (p.Ala392fs)	AKNA (A273fs +1 more)	Deletion (frameshift variant)	AKNA-related autism spectrum disorder	GUncertain significance
Select item 727681	NM_000608.4(ORM2):c.480C>T (p.Tyr160=)	AKNA, ORM2	Single nucleotide variant (synonymous variant)	not provided	GBenign