"Ambry Genetics"[submitter] AND "CYB5RL"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2349881	NM_001031672.4(CYB5RL):c.886A>G (p.Lys296Glu)	CYB5RL (K217E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274388	NM_001031672.4(CYB5RL):c.647T>G (p.Val216Gly)	CYB5RL (V216G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311097	NM_001031672.4(CYB5RL):c.628G>A (p.Glu210Lys)	CYB5RL (E131K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548848	NM_001031672.4(CYB5RL):c.574G>A (p.Gly192Ser)	CYB5RL (G113S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303400	NM_001031672.4(CYB5RL):c.527A>G (p.Tyr176Cys)	CYB5RL (Y97C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274877	NM_001031672.4(CYB5RL):c.461G>C (p.Arg154Pro)	CYB5RL (R6P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623644	NM_001031672.4(CYB5RL):c.394A>G (p.Ser132Gly)	CYB5RL (S132G)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2274833	NM_001031672.4(CYB5RL):c.266C>G (p.Thr89Ser)	CYB5RL (T89S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2395304	NM_001031672.4(CYB5RL):c.88G>A (p.Gly30Ser)	CYB5RL (G30S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance