"PreventionGenetics, part of Exact Sciences"[submitter] AND "RUNX1"[ge - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258181	NM_001754.5(RUNX1):c.*44C>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 258180	NM_001754.5(RUNX1):c.*27C>A	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
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 532664	NM_001754.5(RUNX1):c.1412_1413dup (p.Leu472fs)	RUNX1 (L472fs +1 more)	Microsatellite (frameshift variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 258184	NM_001754.5(RUNX1):c.1389C>G (p.Pro463=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GBenign 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 837191	NM_001754.5(RUNX1):c.1322T>C (p.Leu441Pro)	RUNX1 (L441P +1 more)	Single nucleotide variant (missense variant)	RUNX1-related disorder +1 more	GUncertain significance
Select item 2874886	NM_001754.5(RUNX1):c.1275G>C (p.Pro425=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +1 more	GLikely benign
Select item 258183	NM_001754.5(RUNX1):c.1275G>A (p.Pro425=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 741803	NM_001754.5(RUNX1):c.1272G>C (p.Ser424=)	RUNX1	Single nucleotide variant (synonymous variant)	RUNX1-related disorder +3 more	GLikely benign
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 561226	NM_001754.5(RUNX1):c.1263_1264insTCCCTCCTACCACCTGTACTACGGCGCCTCGGCCGGCTCCTACCAGTTCTCCATGGTGGGCGGC (p.Glu422fs)	RUNX1 (E395fs +1 more)	Microsatellite (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 1527989	NM_001754.5(RUNX1):c.1263C>G (p.Gly421=)	RUNX1	Single nucleotide variant (synonymous variant)	RUNX1-related disorder +1 more	GLikely benign
Select item 1659459	NM_001754.5(RUNX1):c.1260C>G (p.Gly420=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 561225	NM_001754.5(RUNX1):c.1243C>T (p.Gln415Ter)	RUNX1 (Q415* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 561224	NM_001754.5(RUNX1):c.1228_1231dup (p.Ala411fs)	RUNX1 (A384fs +1 more)	Duplication (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 578985	NM_001754.5(RUNX1):c.1230G>A (p.Ser410=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +1 more	GLikely benign
Select item 561223	NM_001754.5(RUNX1):c.1198_1201dup (p.Pro401fs)	RUNX1 (P374fs +1 more)	Duplication (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 2631353	NM_001754.5(RUNX1):c.1173_1174del (p.Gln392fs)	RUNX1 (Q365fs +1 more)	Microsatellite (frameshift variant)	RUNX1-related disorder	GLikely pathogenic
Select item 561222	NM_001754.5(RUNX1):c.1163C>A (p.Ser388Ter)	RUNX1 (S388* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely pathogenic FDA Recognized database
Select item 532662	NM_001754.5(RUNX1):c.1160G>C (p.Gly387Ala)	RUNX1 (G387A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 239040	NM_001754.5(RUNX1):c.1092CGGCAT[3] (p.364IG[3])	RUNX1	Microsatellite (inframe_insertion)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
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 1674833	NM_001754.5(RUNX1):c.1077G>C (p.Pro359=)	RUNX1	Single nucleotide variant (synonymous variant)	RUNX1-related disorder +1 more	GLikely benign
Select item 258182	NM_001754.5(RUNX1):c.1044C>T (p.His348=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2634012	NM_001754.5(RUNX1):c.1036del (p.Arg346fs)	RUNX1 (R319fs +1 more)	Deletion (frameshift variant)	RUNX1-related disorder	GPathogenic
Select item 409815	NM_001754.5(RUNX1):c.1007T>C (p.Phe336Ser)	RUNX1 (F336S +1 more)	Single nucleotide variant (missense variant)	RUNX1-related disorder +1 more	GUncertain significance
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 561221	NM_001754.5(RUNX1):c.1003C>T (p.Gln335Ter)	RUNX1 (Q335* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic 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 869208	NM_001754.5(RUNX1):c.968-10C>A	RUNX1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely pathogenic FDA Recognized database
Select item 415833	NM_001754.5(RUNX1):c.952T>G (p.Ser318Ala)	RUNX1 (S318A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 239057	NM_001754.5(RUNX1):c.927C>T (p.Gly309=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 561257	NM_001754.5(RUNX1):c.900G>A (p.Thr300=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 1144346	NM_001754.5(RUNX1):c.828C>A (p.Ser276=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +1 more	GLikely benign
Select item 862114	NM_001754.5(RUNX1):c.822A>T (p.Gln274His)	RUNX1 (Q247H +1 more)	Single nucleotide variant (missense variant)	RUNX1-related disorder +1 more	GUncertain significance
Select item 561256	NM_001754.5(RUNX1):c.820del (p.Gln274fs)	RUNX1 (Q247fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 2633732	NM_001754.5(RUNX1):c.805+12723_805+12724del	RUNX1 (T245fs)	Microsatellite (frameshift variant +1 more)	RUNX1-related disorder	GUncertain significance
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 3045268	NM_001754.5(RUNX1):c.747T>A (p.Pro249=)	RUNX1	Single nucleotide variant (synonymous variant)	RUNX1-related disorder	GLikely benign
Select item 561255	NM_001754.5(RUNX1):c.719del (p.Pro240fs)	RUNX1 (P240fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 415832	NM_001754.5(RUNX1):c.698G>A (p.Arg233His)	RUNX1 (R233H +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign FDA Recognized database
Select item 561254	NM_001754.5(RUNX1):c.690_691delinsAA (p.Leu231Met)	RUNX1 (L231M +1 more)	Indel (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 239052	NM_001754.5(RUNX1):c.654C>T (p.Ser218=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign FDA Recognized database
Select item 239051	NM_001754.5(RUNX1):c.648C>T (p.Pro216=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 258186	NM_001754.5(RUNX1):c.614-34C>T	RUNX1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GBenign FDA Recognized database
Select item 339876	NM_001754.5(RUNX1):c.613+8C>T	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GBenign 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 hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 561252	NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter)	RUNX1, RUNX1-AS1 (R204* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 14464	NM_001754.5(RUNX1):c.602G>A (p.Arg201Gln)	RUNX1, RUNX1-AS1 (R201Q +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
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 561251	NM_001754.5(RUNX1):c.593A>C (p.Asp198Ala)	RUNX1, RUNX1-AS1 (D198A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 561250	NM_001754.5(RUNX1):c.582A>C (p.Lys194Asn)	RUNX1, RUNX1-AS1 (K194N +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 561248	NM_001754.5(RUNX1):c.567C>G (p.Tyr189Ter)	RUNX1, RUNX1-AS1 (Y189* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 561247	NM_001754.5(RUNX1):c.554A>C (p.Gln185Pro)	RUNX1, RUNX1-AS1 (Q185P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 463997	NM_001754.5(RUNX1):c.552G>T (p.Pro184=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 561246	NM_001754.5(RUNX1):c.532A>C (p.Thr178Pro)	RUNX1, RUNX1-AS1 (T178P +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 2633656	NM_001754.5(RUNX1):c.509G>A (p.Gly170Glu)	RUNX1, RUNX1-AS1 (G143E +1 more)	Single nucleotide variant (missense variant)	RUNX1-related disorder	GUncertain significance
Select item 3061340	NM_001754.5(RUNX1):c.509-1G>A	RUNX1, RUNX1-AS1	Single nucleotide variant (splice acceptor variant)	RUNX1-related disorder	GLikely pathogenic
Select item 561245	NM_001754.5(RUNX1):c.508+18A>G	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 561241	NM_001754.5(RUNX1):c.494_508+5dup	RUNX1-AS1, RUNX1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 561240	NM_001754.5(RUNX1):c.457_508+5dup	RUNX1, RUNX1-AS1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 561244	NM_001754.5(RUNX1):c.504_508dup (p.Gly170fs)	RUNX1, RUNX1-AS1 (G143fs +1 more)	Duplication (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 561243	NM_001754.5(RUNX1):c.502G>A (p.Gly168Arg)	RUNX1, RUNX1-AS1 (G168R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 561242	NM_001754.5(RUNX1):c.501del (p.Ser167fs)	RUNX1, RUNX1-AS1 (S167fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 2637205	NM_001754.5(RUNX1):c.482T>A (p.Leu161His)	RUNX1, RUNX1-AS1 (L134H +1 more)	Single nucleotide variant (missense variant)	RUNX1-related disorder	GUncertain significance
Select item 339877	NM_001754.5(RUNX1):c.444C>T (p.Thr148=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign FDA Recognized database
Select item 561239	NM_001754.5(RUNX1):c.437A>T (p.Asn146Ile)	RUNX1, RUNX1-AS1 (N146I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 561238	NM_001754.5(RUNX1):c.424dup (p.Ala142fs)	RUNX1, RUNX1-AS1 (A142fs +1 more)	Duplication (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 2628467	NM_001754.5(RUNX1):c.421T>C (p.Ser141Pro)	RUNX1, RUNX1-AS1 (S114P +1 more)	Single nucleotide variant (missense variant)	RUNX1-related disorder +1 more	GUncertain significance
Select item 561237	NM_001754.4(RUNX1):c.356_358delTGG	RUNX1, RUNX1-AS1	Microsatellite	not provided	GUncertain significance
Select item 14463	NM_001754.4(RUNX1):c.352-1G>T	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 258185	NM_001754.5(RUNX1):c.351+15A>G	RUNX1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GBenign 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 409822	NM_001754.5(RUNX1):c.351+1G>C	RUNX1	Single nucleotide variant (splice donor variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely pathogenic FDA Recognized database
Select item 561235	NM_001754.5(RUNX1):c.339del (p.Ile114fs)	RUNX1 (I114fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 561234	NM_001754.5(RUNX1):c.330G>C (p.Lys110Asn)	RUNX1 (K110N +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 14465	NM_001754.5(RUNX1):c.328A>G (p.Lys110Glu)	RUNX1 (K83E +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 561233	NM_001754.5(RUNX1):c.314A>C (p.His105Pro)	RUNX1 (H105P +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely pathogenic FDA Recognized database
Select item 2635335	NM_001754.5(RUNX1):c.311del (p.Thr104fs)	RUNX1 (T104fs +1 more)	Deletion (frameshift variant)	RUNX1-related disorder	GLikely pathogenic
Select item 561232	NM_001754.5(RUNX1):c.305T>A (p.Leu102Gln)	RUNX1 (L102Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 561231	NM_001754.5(RUNX1):c.292del (p.Leu98fs)	RUNX1 (L71fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic 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 561230	NM_001754.5(RUNX1):c.240_241del (p.Glu80fs)	RUNX1 (E80fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 937279	NM_001754.5(RUNX1):c.223G>T (p.Asp75Tyr)	RUNX1 (D48Y +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +1 more	GUncertain significance
Select item 561229	NM_001754.5(RUNX1):c.171_223del (p.Leu58fs)	RUNX1 (L58fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 2632141	NM_001754.5(RUNX1):c.184_187dup (p.Ala63fs)	RUNX1 (A36fs +1 more)	Duplication (frameshift variant)	RUNX1-related disorder	GPathogenic
Select item 2630595	NM_001754.5(RUNX1):c.188C>T (p.Ala63Val)	RUNX1 (A36V +1 more)	Single nucleotide variant (missense variant)	RUNX1-related disorder +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 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 239045	NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser)	RUNX1 (L56S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GBenign FDA Recognized database
Select item 532681	NM_001754.5(RUNX1):c.165G>A (p.Ala55=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 561228	NM_001754.5(RUNX1):c.159del (p.Ser53fs)	RUNX1 (S53fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
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 561249	NM_001754.5(RUNX1):c.58+23A>G	RUNX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 463989	NM_001754.5(RUNX1):c.18A>G (p.Ile6Met)	RUNX1 (I6M)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign FDA Recognized database
Select item 561220	NM_001754.5(RUNX1):c.-2C>T	RUNX1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 561219	NM_001754.5(RUNX1):c.-19G>A	RUNX1	Single nucleotide variant (5 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database

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