"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688311	NM_002221.4(ITPKB):c.2625+39C>T	ITPKB	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688151	NM_002221.4(ITPKB):c.1896C>T (p.Ala632=)	ITPKB	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688336	NM_002221.4(ITPKB):c.1764C>T (p.Ser588=)	ITPKB	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 1705897	NM_002221.4(ITPKB):c.1655C>A (p.Pro552Gln)	ITPKB (P552Q)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable +1 more	GConflicting classifications of pathogenicity
Select item 1705899	NM_002221.4(ITPKB):c.1222T>G (p.Ser408Ala)	ITPKB (S408A)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable +1 more	GConflicting classifications of pathogenicity
Select item 1705889	NM_002221.4(ITPKB):c.964G>A (p.Ala322Thr)	ITPKB (A322T)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable +1 more	GConflicting classifications of pathogenicity
Select item 1705898	NM_002221.4(ITPKB):c.518G>A (p.Arg173His)	ITPKB (R173H)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm, unclassifiable +1 more	GConflicting classifications of pathogenicity
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
Select item 2688337	NM_002221.4(ITPKB):c.-8C>T	ITPKB, LOC129932672	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign