Related gene-specific medical variations for Gene (Select 3707) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3111702	NM_002221.4(ITPKB):c.144C>G (p.Phe48Leu)	ITPKB, LOC129932672 (F48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111697	NM_002221.4(ITPKB):c.100C>G (p.Pro34Ala)	ITPKB, LOC129932672 (P34A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688337	NM_002221.4(ITPKB):c.-8C>T	ITPKB, LOC129932672	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 2596387	NM_002221.4(ITPKB):c.151G>A (p.Gly51Arg)	ITPKB, LOC129932672 (G51R)	Single nucleotide variant (missense variant)	ITPKB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2513432	NM_002221.4(ITPKB):c.130C>T (p.Pro44Ser)	LOC129932672, ITPKB (P44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1705896	NM_002221.4(ITPKB):c.267CAGCGGCAG[1] (p.91GSS[1])	ITPKB, LOC129932672	Microsatellite (inframe_deletion)	Myeloproliferative neoplasm, unclassifiable	GLikely pathogenic
Select item 1705892	NM_002221.4(ITPKB):c.220G>A (p.Gly74Ser)	ITPKB, LOC129932672 (G74S)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable +1 more	GBenign/Likely benign

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