Related gene-specific medical variations for Gene (Select 4869) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376012	NM_002520.7(NPM1):c.862_863insTCTG (p.Trp288fs)	NPM1 (W288fs +3 more)	Insertion (frameshift variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376011	NM_002520.7(NPM1):c.862_863insTCAG (p.Trp288fs)	NPM1 (W288fs +3 more)	Insertion (frameshift variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376010	NM_002520.7(NPM1):c.862_863insCCTG (p.Trp288fs)	NPM1 (W259fs +3 more)	Insertion (frameshift variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 376009	NM_002520.7(NPM1):c.862_863insCATG (p.Trp288fs)	NPM1 (W259fs +3 more)	Insertion (frameshift variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 134990	NM_002520.7(NPM1):c.476CTG[1] (p.Ala160del)	NPM1 (A160del +2 more)	Microsatellite (inframe_deletion)	not specified	Gnot provided
Select item 134989	NM_002520.7(NPM1):c.428C>G (p.Ser143Cys)	NPM1 (S143C +2 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134988	NM_002520.7(NPM1):c.362A>G (p.Glu121Gly)	NPM1 (E121G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 133371	NM_002520.7(NPM1):c.-1G>T	NPM1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	Gnot provided

ClinVar