"Baylor Genetics"[submitter] AND "RUNX1"[gene] - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 836080	NM_001754.5(RUNX1):c.1367_1426dup (p.Glu456_Ala475dup)	RUNX1	Duplication (inframe_insertion)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1401156	NM_001754.5(RUNX1):c.1409C>T (p.Ala470Val)	RUNX1 (A443V +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 641150	NM_001754.5(RUNX1):c.1403C>T (p.Pro468Leu)	RUNX1 (P441L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 463983	NM_001754.5(RUNX1):c.1400C>A (p.Ala467Glu)	RUNX1 (A467E +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 532665	NM_001754.5(RUNX1):c.1354G>A (p.Val452Met)	RUNX1 (V452M +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 2678491	NM_001754.5(RUNX1):c.1353C>A (p.Asp451Glu)	RUNX1 (D424E +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2156664	NM_001754.5(RUNX1):c.1328A>G (p.Asn443Ser)	RUNX1 (N416S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +1 more	GUncertain significance
Select item 1046278	NM_001754.5(RUNX1):c.1322T>G (p.Leu441Arg)	RUNX1 (L441R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2678497	NM_001754.5(RUNX1):c.1318G>A (p.Ala440Thr)	RUNX1 (A413T +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 532660	NM_001754.5(RUNX1):c.1301A>G (p.Asn434Ser)	RUNX1 (N434S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2678496	NM_001754.5(RUNX1):c.1277C>G (p.Pro426Arg)	RUNX1 (P399R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 840865	NM_001754.5(RUNX1):c.1271C>T (p.Ser424Leu)	RUNX1 (S397L +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +1 more	GUncertain significance
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 409823	NM_001754.5(RUNX1):c.1266G>C (p.Glu422Asp)	RUNX1 (E422D +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 409820	NM_001754.5(RUNX1):c.1252A>G (p.Met418Val)	RUNX1 (M418V +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 3240388	NM_001754.5(RUNX1):c.1237T>G (p.Ser413Ala)	RUNX1 (S386A +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 961001	NM_001754.5(RUNX1):c.1229C>T (p.Ser410Leu)	RUNX1 (S383L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 463978	NM_001754.5(RUNX1):c.1197C>A (p.Ser399Arg)	RUNX1 (S399R +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +1 more	GUncertain significance
Select item 3240393	NM_001754.5(RUNX1):c.1193C>G (p.Ala398Gly)	RUNX1 (A371G +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 1035236	NM_001754.5(RUNX1):c.1191A>T (p.Gln397His)	RUNX1 (Q370H +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 650411	NM_001754.5(RUNX1):c.1184C>T (p.Pro395Leu)	RUNX1 (P395L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 392183	NM_001754.5(RUNX1):c.1184C>G (p.Pro395Arg)	RUNX1 (P395R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 856424	NM_001754.5(RUNX1):c.1180G>A (p.Gly394Ser)	RUNX1 (G367S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2038636	NM_001754.5(RUNX1):c.1166C>G (p.Ser389Trp)	RUNX1 (S362W +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1521966	NM_001754.5(RUNX1):c.1114G>A (p.Gly372Ser)	RUNX1 (G345S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 463977	NM_001754.5(RUNX1):c.1112T>C (p.Met371Thr)	RUNX1 (M371T +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3240387	NM_001754.5(RUNX1):c.1100G>A (p.Gly367Asp)	RUNX1 (G340D +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 837795	NM_001754.5(RUNX1):c.1073C>T (p.Thr358Met)	RUNX1 (T331M +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 643883	NM_001754.5(RUNX1):c.1041G>A (p.Met347Ile)	RUNX1 (M320I +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 657868	NM_001754.5(RUNX1):c.1039A>G (p.Met347Val)	RUNX1 (M347V +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 571484	NM_001754.5(RUNX1):c.1034C>G (p.Pro345Arg)	RUNX1 (P345R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 860286	NM_001754.5(RUNX1):c.1013C>T (p.Ala338Val)	RUNX1 (A311V +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 651472	NM_001754.5(RUNX1):c.973C>T (p.Pro325Ser)	RUNX1 (P298S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 943098	NM_001754.5(RUNX1):c.967A>G (p.Thr323Ala)	RUNX1 (T296A +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +2 more	GUncertain significance
Select item 1000131	NM_001754.5(RUNX1):c.952T>C (p.Ser318Pro)	RUNX1 (S291P +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 573788	NM_001754.5(RUNX1):c.925G>A (p.Gly309Ser)	RUNX1 (G309S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 838046	NM_001754.5(RUNX1):c.917G>C (p.Arg306Pro)	RUNX1 (R306P +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 464013	NM_001754.5(RUNX1):c.917G>A (p.Arg306His)	RUNX1 (R306H +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 409809	NM_001754.5(RUNX1):c.899C>T (p.Thr300Met)	RUNX1 (T300M +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1036141	NM_001754.5(RUNX1):c.872T>C (p.Ile291Thr)	RUNX1 (I264T +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 575500	NM_001754.5(RUNX1):c.856C>A (p.Gln286Lys)	RUNX1 (Q286K +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 960066	NM_001754.5(RUNX1):c.833C>T (p.Pro278Leu)	RUNX1 (P251L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 239056	NM_001754.5(RUNX1):c.832C>T (p.Pro278Ser)	RUNX1 (P278S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 409818	NM_001754.5(RUNX1):c.801G>A (p.Met267Ile)	RUNX1 (M267I +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 464008	NM_001754.5(RUNX1):c.787C>T (p.Pro263Ser)	RUNX1 (P263S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3240390	NM_001754.5(RUNX1):c.777_778dup (p.Asn260fs)	RUNX1 (N233fs +1 more)	Duplication (frameshift variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 2045031	NM_001754.5(RUNX1):c.766T>C (p.Ser256Pro)	RUNX1 (S229P +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +1 more	GUncertain significance
Select item 1319383	NM_001754.5(RUNX1):c.761A>G (p.Asn254Ser)	RUNX1 (N227S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 239055	NM_001754.5(RUNX1):c.749G>A (p.Arg250His)	RUNX1 (R250H +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 935114	NM_001754.5(RUNX1):c.748C>T (p.Arg250Cys)	RUNX1 (R250C +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 409825	NM_001754.5(RUNX1):c.697C>T (p.Arg233Cys)	RUNX1 (R233C +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2678492	NM_001754.5(RUNX1):c.694C>T (p.Arg232Trp)	RUNX1 (R205W +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 963047	NM_001754.5(RUNX1):c.692T>C (p.Leu231Pro)	RUNX1 (L204P +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 580214	NM_001754.5(RUNX1):c.671G>A (p.Arg224Gln)	RUNX1 (R224Q +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 664394	NM_001754.5(RUNX1):c.657G>C (p.Leu219Phe)	RUNX1 (L192F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 843240	NM_001754.5(RUNX1):c.620G>A (p.Arg207Gln)	RUNX1 (R180Q +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 hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1025603	NM_001754.5(RUNX1):c.463G>A (p.Val155Ile)	RUNX1, RUNX1-AS1 (V128I +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +1 more	GUncertain significance
Select item 532652	NM_001754.5(RUNX1):c.445G>A (p.Ala149Thr)	RUNX1, RUNX1-AS1 (A149T +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1022052	NM_001754.5(RUNX1):c.443C>T (p.Thr148Ile)	RUNX1, RUNX1-AS1 (T121I +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2112037	NM_001754.5(RUNX1):c.422C>A (p.Ser141Ter)	RUNX1, RUNX1-AS1 (S114* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +1 more	GPathogenic/Likely pathogenic
Select item 566052	NM_001754.5(RUNX1):c.421T>G (p.Ser141Ala)	RUNX1, RUNX1-AS1 (S141A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2678494	NM_001754.5(RUNX1):c.388G>A (p.Val130Ile)	RUNX1, RUNX1-AS1 (V103I +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3240392	NM_001754.5(RUNX1):c.382A>T (p.Thr128Ser)	RUNX1, RUNX1-AS1 (T101S +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 429813	NM_001754.5(RUNX1):c.367G>C (p.Asp123His)	RUNX1, RUNX1-AS1 (D123H +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 2678493	NM_001754.5(RUNX1):c.342C>G (p.Ile114Met)	RUNX1 (I114M +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1491076	NM_001754.5(RUNX1):c.340A>G (p.Ile114Val)	RUNX1 (I114V +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +1 more	GUncertain significance
Select item 946753	NM_001754.5(RUNX1):c.268G>A (p.Val90Met)	RUNX1 (V90M +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
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 658195	NM_001754.5(RUNX1):c.239A>C (p.Glu80Ala)	RUNX1 (E80A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 860545	NM_001754.5(RUNX1):c.236T>A (p.Val79Glu)	RUNX1 (V79E +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 2678498	NM_001754.5(RUNX1):c.232A>C (p.Met78Leu)	RUNX1 (M51L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2201687	NM_001754.5(RUNX1):c.211C>G (p.Leu71Val)	RUNX1 (L71V +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +1 more	GUncertain significance
Select item 1417387	NM_001754.5(RUNX1):c.194C>T (p.Ala65Val)	RUNX1 (A65V +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 532655	NM_001754.5(RUNX1):c.182C>T (p.Pro61Leu)	RUNX1 (P61L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1435320	NM_001754.5(RUNX1):c.181C>T (p.Pro61Ser)	RUNX1 (P61S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2420457	NM_001754.5(RUNX1):c.153G>T (p.Lys51Asn)	RUNX1 (K24N +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +1 more	GUncertain significance
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 569458	NM_001754.5(RUNX1):c.82_84del (p.Ser28del)	RUNX1	Deletion (inframe_deletion)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 1494340	NM_001754.5(RUNX1):c.77A>C (p.Asn26Thr)	RUNX1 (N26T)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +1 more	GUncertain significance
Select item 3240389	NM_001754.5(RUNX1):c.76A>C (p.Asn26His)	RUNX1 (N26H)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 464003	NM_001754.5(RUNX1):c.70G>A (p.Gly24Arg)	RUNX1 (G24R)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 409814	NM_001754.5(RUNX1):c.56G>A (p.Arg19Lys)	RUNX1 (R19K)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 532661	NM_001754.5(RUNX1):c.35C>T (p.Ser12Leu)	RUNX1 (S12L)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 239041	NM_001754.5(RUNX1):c.11A>G (p.Asp4Gly)	RUNX1 (D4G)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 86