Related gene-specific medical variations for Gene (Select 9945) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281250	NM_005110.4(GFPT2):c.1298C>T (p.Ala433Val)	GFPT2, LOC112997584 (A433V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520774	NM_005110.4(GFPT2):c.1420G>A (p.Ala474Thr)	GFPT2, LOC112997584 (A474T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497736	NM_005110.4(GFPT2):c.1152+1G>A	GFPT2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2374845	NM_005110.4(GFPT2):c.1369C>T (p.Arg457Cys)	GFPT2, LOC112997584 (R457C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363134	NM_005110.4(GFPT2):c.1339G>A (p.Val447Ile)	GFPT2, LOC112997584 (V447I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328943	NM_005110.4(GFPT2):c.1358G>A (p.Ser453Asn)	GFPT2, LOC112997584 (S453N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253301	NM_005110.4(GFPT2):c.1289C>T (p.Thr430Ile)	GFPT2, LOC112997584 (T430I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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