"Ambry Genetics"[submitter] AND "OXLD1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2369136	NM_001039842.3(OXLD1):c.398C>G (p.Ala133Gly)	OXLD1 (A123G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394000	NM_001039842.3(OXLD1):c.367G>A (p.Glu123Lys)	OXLD1 (E113K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510022	NM_001039842.3(OXLD1):c.281G>A (p.Gly94Asp)	OXLD1 (G84D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2314741	NM_001039842.3(OXLD1):c.131A>G (p.His44Arg)	OXLD1 (H44R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3303765	NM_001039842.3(OXLD1):c.103C>T (p.Pro35Ser)	LOC130061961, OXLD1 (P25S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207573	NM_001039842.3(OXLD1):c.95A>G (p.Gln32Arg)	LOC130061961, OXLD1 (Q22R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2382515	NM_001039842.3(OXLD1):c.67C>G (p.Arg23Gly)	LOC130061961, OXLD1 (R13G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2302769	NM_001039842.3(OXLD1):c.65C>T (p.Ala22Val)	LOC130061961, OXLD1 (A22V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance