"Birmingham Platelet Group; University of Birmingham"[submitter] AND " - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 988867	NM_001754.5(RUNX1):c.1270T>G (p.Ser424Ala)	RUNX1 (S397A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 970259	NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro)	RUNX1 (S424P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 988848	NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala)	RUNX1 (E395A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 988847	NM_001754.5(RUNX1):c.1256T>G (p.Val419Gly)	RUNX1 (V392G +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 561253	NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln)	RUNX1, RUNX1-AS1 (R204Q +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 627342	NM_001754.5(RUNX1):c.593A>T (p.Asp198Val)	RUNX1, RUNX1-AS1 (D198V +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 988811	NM_001754.5(RUNX1):c.586A>G (p.Thr196Ala)	RUNX1, RUNX1-AS1 (T169A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 988808	NM_001754.5(RUNX1):c.508+1G>T	RUNX1, RUNX1-AS1	Single nucleotide variant (splice donor variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 988857	NM_001754.5(RUNX1):c.403G>A (p.Gly135Ser)	RUNX1, RUNX1-AS1 (G108S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 988837	NM_001754.5(RUNX1):c.351+1G>T	RUNX1	Single nucleotide variant (splice donor variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 988835	NM_001754.5(RUNX1):c.317G>A (p.Trp106Ter)	RUNX1 (W106* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 988809	NM_001754.5(RUNX1):c.98-1G>A	RUNX1 (D6N)	Single nucleotide variant (missense variant +1 more)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database