Related gene-specific medical variations for Gene (Select 112849) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2596599	NM_016475.5(JKAMP):c.470T>C (p.Val157Ala)	JKAMP, L3HYPDH (V165A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519436	NM_016475.5(JKAMP):c.920G>C (p.Gly307Ala)	JKAMP, L3HYPDH (G315A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492800	NM_016475.5(JKAMP):c.713T>C (p.Ile238Thr)	JKAMP, L3HYPDH (I175T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410210	NM_016475.5(JKAMP):c.275T>C (p.Ile92Thr)	JKAMP, L3HYPDH (I92T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373911	NM_016475.5(JKAMP):c.610G>A (p.Val204Met)	L3HYPDH, JKAMP (V141M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288120	NM_016475.5(JKAMP):c.166T>A (p.Tyr56Asn)	L3HYPDH, JKAMP (Y70N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274214	NM_016475.5(JKAMP):c.20C>G (p.Pro7Arg)	L3HYPDH, JKAMP (P7R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2251853	NM_016475.5(JKAMP):c.926A>G (p.Asn309Ser)	L3HYPDH, JKAMP (N323S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance