C0023467[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812893	NM_022552.5(DNMT3A):c.1035_1045del (p.Met345fs)	DNMT3A (M122fs +3 more)	Deletion (frameshift variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 13998	NM_002520.7(NPM1):c.860_863dup (p.Trp288fs)	NPM1 (W224fs +3 more)	Duplication (frameshift variant +1 more)	Myelodysplastic syndrome progressed to acute myeloid leukemia	GPathogenic
Select item 14662	NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	INSL6, JAK2 (V617F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 177881	NM_004985.5(KRAS):c.183A>C (p.Gln61His)	KRAS (Q61H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity STier II - Potential OOncogenic
Select item 376022	NM_001754.5(RUNX1):c.484A>G (p.Arg162Gly)	RUNX1, RUNX1-AS1 (R162G +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 812740	NM_001754.5(RUNX1):c.320G>A (p.Arg107His)	RUNX1 (R107H +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database

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