Related gene-specific medical variations for Gene (Select 5211) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068106	NM_002626.6(PFKL):c.844-2A>G	PFKL	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2606087	NM_002626.6(PFKL):c.37G>T (p.Gly13Cys)	LOC130066817, PFKL (G13C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2531862	NM_002626.6(PFKL):c.31G>A (p.Ala11Thr)	LOC130066817, PFKL (A11T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 811844	NM_002626.6(PFKL):c.1957T>C (p.Cys653Arg)	PFKL (C653R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 811805	NM_002626.6(PFKL):c.2212G>A (p.Glu738Lys)	PFKL (E738K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 811664	NM_002626.6(PFKL):c.1907C>A (p.Thr636Lys)	PFKL (T636K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 618270	NM_002626.6(PFKL):c.343G>A (p.Val115Ile)	PFKL (V115I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618268	NM_002626.6(PFKL):c.-5C>T	LOC130066817, PFKL	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 440034	NM_002626.6(PFKL):c.710A>T (p.Asp237Val)	PFKL (D237V +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 440033	NM_002626.6(PFKL):c.747+7G>A	PFKL	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 440032	NM_002626.6(PFKL):c.366C>T (p.Leu122=)	PFKL	Single nucleotide variant (synonymous variant)	not specified	GBenign