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

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2316744	NM_006488.3(KHK):c.88A>T (p.Ile30Leu)	KHK (I30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114017	NM_006488.3(KHK):c.104A>G (p.Gln35Arg)	KHK (Q35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311548	NM_006488.3(KHK):c.163G>A (p.Ala55Thr)	KHK (A55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249039	NM_006488.3(KHK):c.210-304C>T	KHK (R77C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288037	NM_006488.3(KHK):c.210-269T>G	KHK (F88L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 897186	NM_006488.3(KHK):c.210-253G>A	KHK (V94I)	Single nucleotide variant (missense variant +1 more)	Essential fructosuria +1 more	GConflicting classifications of pathogenicity
Select item 2396329	NM_006488.3(KHK):c.383T>C (p.Val128Ala)	KHK (V128A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114018	NM_006488.3(KHK):c.396G>T (p.Gln132His)	KHK (Q132H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288036	NM_006488.3(KHK):c.431C>T (p.Ser144Leu)	KHK (S144L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332350	NM_006488.3(KHK):c.431C>G (p.Ser144Trp)	KHK (S144W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 335489	NM_006488.3(KHK):c.463G>A (p.Ala155Thr)	KHK (A155T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2466598	NM_006488.3(KHK):c.464C>G (p.Ala155Gly)	KHK (A155G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 897189	NM_006488.3(KHK):c.470A>C (p.Asn157Thr)	KHK (N157T)	Single nucleotide variant (missense variant)	Essential fructosuria +1 more	GUncertain significance
Select item 2379617	NM_006488.3(KHK):c.683A>T (p.Glu228Val)	CGREF1, KHK (E228V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 895374	NM_006488.3(KHK):c.688G>A (p.Ala230Thr)	CGREF1, KHK (A230T)	Single nucleotide variant (3 prime UTR variant +1 more)	Essential fructosuria +1 more	GUncertain significance
Select item 2474195	NM_006488.3(KHK):c.748G>A (p.Val250Met)	CGREF1, KHK (V250M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2341113	NM_001166240.2(CGREF1):c.380C>T (p.Ala127Val)	CGREF1, KHK (A127V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance