Related gene-specific medical variations for Gene (Select 5214) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305906	NM_002627.5(PFKP):c.592G>A (p.Val198Ile)	PFKP, LOC126860826 (V171I +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3305904	NM_002627.5(PFKP):c.487G>A (p.Ala163Thr)	LOC126860826, PFKP (A125T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399441	NM_002627.5(PFKP):c.485A>G (p.Tyr162Cys)	LOC126860826, PFKP (Y124C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399008	NM_002627.5(PFKP):c.459G>C (p.Gln153His)	LOC126860826, PFKP (Q126H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389606	NM_002627.5(PFKP):c.22G>C (p.Ala8Pro)	LOC130003172, PFKP (A8P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264809	NM_002627.5(PFKP):c.82G>A (p.Gly28Ser)	LOC130003172, PFKP (G28S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264232	NM_002627.5(PFKP):c.488C>A (p.Ala163Asp)	LOC126860826, PFKP (A136D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262032	NM_002627.5(PFKP):c.572T>C (p.Leu191Pro)	LOC126860826, PFKP (L191P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787897	NM_002627.5(PFKP):c.522C>T (p.Ile174=)	LOC126860826, PFKP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 772942	NM_002627.5(PFKP):c.462C>T (p.Ile154=)	LOC126860826, PFKP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 760919	NM_002627.5(PFKP):c.620+7C>T	LOC126860826, PFKP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 735159	NM_002627.5(PFKP):c.537C>T (p.Cys179=)	LOC126860826, PFKP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 442722	GRCh37/hg19 10p15.3-15.2(chr10:2624724-3177112)x3	PFKP	Copy number gain	See cases	GLikely benign
Select item 441982	GRCh37/hg19 10p15.3-15.2(chr10:2381373-3138660)x1	PFKP	Copy number loss	See cases	GUncertain significance
Select item 395189	GRCh37/hg19 10p15.3-15.2(chr10:2819465-3111473)x3	PFKP	Copy number gain	See cases	GBenign