Related gene-specific medical variations for Gene (Select 51700) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2482988	NM_016229.5(CYB5R2):c.709C>G (p.Leu237Val)	CYB5R2, PPFIBP2 (L237V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2387144	NM_016229.5(CYB5R2):c.688G>A (p.Ala230Thr)	CYB5R2, PPFIBP2 (A230T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2384580	NM_016229.5(CYB5R2):c.757C>G (p.Pro253Ala)	CYB5R2, PPFIBP2 (P253A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2382689	NM_016229.5(CYB5R2):c.752C>T (p.Pro251Leu)	PPFIBP2, CYB5R2 (P251L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2356873	NM_016229.5(CYB5R2):c.602C>T (p.Ala201Val)	PPFIBP2, CYB5R2 (P200S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330134	NM_016229.5(CYB5R2):c.686C>T (p.Thr229Ile)	CYB5R2, PPFIBP2 (T229I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2300070	NM_016229.5(CYB5R2):c.581G>A (p.Arg194Lys)	CYB5R2, PPFIBP2 (E193K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274876	NM_016229.5(CYB5R2):c.616G>A (p.Asp206Asn)	CYB5R2, PPFIBP2 (D206N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2253404	NM_016229.5(CYB5R2):c.722C>T (p.Ala241Val)	PPFIBP2, CYB5R2 (A241V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance