C1832388[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 463984	NM_001754.5(RUNX1):c.1415T>C (p.Leu472Pro)	RUNX1 (L472P +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 1002421	NM_001754.5(RUNX1):c.1396A>G (p.Met466Val)	RUNX1 (M439V +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 339875	NM_001754.5(RUNX1):c.1355T>G (p.Val452Gly)	RUNX1 (V452G +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GBenign FDA Recognized database
Select item 561227	NM_001754.5(RUNX1):c.1338C>T (p.Leu446=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 970259	NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro)	RUNX1 (S424P +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 239042	NM_001754.5(RUNX1):c.1269C>T (p.Arg423=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GBenign FDA Recognized database
Select item 436611	NM_001754.5(RUNX1):c.1257G>A (p.Val419=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 532658	NM_001754.5(RUNX1):c.1196G>T (p.Ser399Ile)	RUNX1 (S399I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 415828	NM_001754.5(RUNX1):c.1086G>C (p.Ser362=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GBenign FDA Recognized database
Select item 239039	NM_001754.5(RUNX1):c.1005G>T (p.Gln335His)	RUNX1 (Q335H +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GBenign FDA Recognized database
Select item 258187	NM_001754.5(RUNX1):c.984A>G (p.Thr328=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 839213	NM_001754.5(RUNX1):c.968C>T (p.Thr323Met)	RUNX1 (T296M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 532672	NM_001754.5(RUNX1):c.939_950del (p.Ala315_Ser318del)	RUNX1	Deletion (inframe_deletion)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +2 more	GConflicting classifications of pathogenicity
Select item 239055	NM_001754.5(RUNX1):c.749G>A (p.Arg250His)	RUNX1 (R250H +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 436613	NM_001754.5(RUNX1):c.729A>C (p.Pro243=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 436614	NM_001754.5(RUNX1):c.649G>A (p.Gly217Arg)	RUNX1 (G217R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 436615	NM_001754.5(RUNX1):c.619C>T (p.Arg207Trp)	RUNX1 (R207W +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +1 more	GUncertain significance
Select item 376018	NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter)	RUNX1-AS1, RUNX1 (R201* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 212089	NM_001754.5(RUNX1):c.557T>A (p.Val186Asp)	RUNX1, RUNX1-AS1 (V186D +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 239049	NM_001754.5(RUNX1):c.492C>T (p.Val164=)	RUNX1-AS1, RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 436616	NM_001754.5(RUNX1):c.352-1G>A	RUNX1, RUNX1-AS1	Single nucleotide variant (splice acceptor variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 561236	NM_001754.5(RUNX1):c.351+1G>A	RUNX1	Single nucleotide variant (splice donor variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 1338536	NM_001754.5(RUNX1):c.319C>T (p.Arg107Cys)	RUNX1 (R107C +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 436617	NM_001754.5(RUNX1):c.316T>A (p.Trp106Arg)	RUNX1 (W106R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely pathogenic FDA Recognized database
Select item 239047	NM_001754.5(RUNX1):c.303G>T (p.Val101=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 436618	NM_001754.5(RUNX1):c.259G>T (p.Gly87Cys)	RUNX1 (G87C +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 1337164	NM_001754.5(RUNX1):c.252C>G (p.Asp84Glu)	RUNX1 (D57E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 212088	NM_001754.5(RUNX1):c.183G>A (p.Pro61=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 463986	NM_001754.5(RUNX1):c.179C>T (p.Ala60Val)	RUNX1 (A60V +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 660565	NM_001754.5(RUNX1):c.170C>T (p.Pro57Leu)	RUNX1 (P30L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +2 more	GConflicting classifications of pathogenicity
Select item 239044	NM_001754.5(RUNX1):c.155T>A (p.Met52Lys)	RUNX1 (M52K +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 858424	NM_001754.5(RUNX1):c.146C>T (p.Pro49Leu)	RUNX1 (P22L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 239043	NM_001754.5(RUNX1):c.144C>T (p.Ser48=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 436612	NM_001754.5(RUNX1):c.99T>C (p.Asp33=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +1 more	GConflicting classifications of pathogenicity
Select item 464002	NM_001754.5(RUNX1):c.65T>A (p.Ile22Lys)	RUNX1 (I22K)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GBenign FDA Recognized database
Select item 1336352	NM_001754.5(RUNX1):c.59-12_59-11del	RUNX1	Deletion (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 409814	NM_001754.5(RUNX1):c.56G>A (p.Arg19Lys)	RUNX1 (R19K)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance

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Items: 37