"ClinGen Myeloid Malignancy Variant Curation Expert Panel"[submitter] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1600673	NM_001754.5(RUNX1):c.613+18G>C	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign 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 532680	NM_001754.5(RUNX1):c.613+7G>A	RUNX1-AS1, RUNX1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 254081	NM_001754.4(RUNX1):c.509-?_613+?del	RUNX1, RUNX1-AS1	Deletion	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely pathogenic 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 2177591	NM_001754.5(RUNX1):c.610C>G (p.Arg204Gly)	RUNX1, RUNX1-AS1 (R177G +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 561252	NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter)	RUNX1-AS1, RUNX1 (R204* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 1073884	NM_001754.5(RUNX1):c.601dup (p.Arg201fs)	RUNX1, RUNX1-AS1 (R174fs +1 more)	Duplication (frameshift variant)	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, RUNX1-AS1 (R201* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 1120421	NM_001754.5(RUNX1):c.600C>T (p.Pro200=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 1706546	NM_001754.5(RUNX1):c.590_597del (p.Val197fs)	RUNX1, RUNX1-AS1 (V170fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 1090114	NM_001754.5(RUNX1):c.597G>A (p.Gly199=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 869210	NM_001754.5(RUNX1):c.596G>A (p.Gly199Glu)	RUNX1, RUNX1-AS1 (G172E +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely pathogenic 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 hematological cancer predisposition syndrome associated with RUNX1	GLikely pathogenic 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 2665098	NM_001754.5(RUNX1):c.592G>T (p.Asp198Tyr)	RUNX1, RUNX1-AS1 (D171Y +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 1721570	NM_001754.5(RUNX1):c.590T>C (p.Val197Ala)	RUNX1, RUNX1-AS1 (V170A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1457911	NM_001754.5(RUNX1):c.588A>G (p.Thr196=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 1013620	NM_001754.5(RUNX1):c.588del (p.Val197fs)	RUNX1, RUNX1-AS1 (V170fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic 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 1684431	NM_001754.5(RUNX1):c.566_584dup (p.Thr196fs)	RUNX1, RUNX1-AS1 (T169fs +1 more)	Duplication (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic 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 532685	NM_001754.5(RUNX1):c.579C>T (p.Ile193=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance 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 532659	NM_001754.5(RUNX1):c.563C>G (p.Thr188Ser)	RUNX1, RUNX1-AS1 (T188S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 532684	NM_001754.5(RUNX1):c.558C>T (p.Val186=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign 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 767025	NM_001754.5(RUNX1):c.552G>A (p.Pro184=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
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 1148255	NM_001754.5(RUNX1):c.546C>T (p.Asn182=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 1074523	NM_001754.5(RUNX1):c.528_531dup (p.Thr178fs)	RUNX1, RUNX1-AS1 (T151fs +1 more)	Duplication (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic 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 1095395	NM_001754.5(RUNX1):c.510G>A (p.Gly170=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 1178133	NM_001754.5(RUNX1):c.508+275T>G	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 1150822	NM_001754.5(RUNX1):c.508+10C>G	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1157351	NM_001754.5(RUNX1):c.508+9T>G	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 14466	NM_001754.5(RUNX1):c.508+3del	RUNX1, RUNX1-AS1	Deletion (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 642956	NM_001754.5(RUNX1):c.508+2T>C	RUNX1, RUNX1-AS1	Single nucleotide variant (splice donor 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 812739	NM_001754.5(RUNX1):c.508+1G>A	RUNX1, RUNX1-AS1	Single nucleotide variant (splice donor variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
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 869207	NM_001754.5(RUNX1):c.506G>T (p.Arg169Ile)	RUNX1, RUNX1-AS1 (R142I +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely pathogenic FDA Recognized database
Select item 627081	NM_001754.5(RUNX1):c.502G>T (p.Gly168Ter)	RUNX1, RUNX1-AS1 (G168* +1 more)	Single nucleotide variant (nonsense)	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 417961	NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln)	RUNX1, RUNX1-AS1 (R166Q +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 1459069	NM_001754.5(RUNX1):c.496C>T (p.Arg166Ter)	RUNX1, RUNX1-AS1 (R166* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 570036	NM_001754.5(RUNX1):c.496C>A (p.Arg166=)	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 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 1704949	NM_001754.5(RUNX1):c.489dup (p.Val164fs)	RUNX1, RUNX1-AS1 (V137fs +1 more)	Duplication (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 1695375	NM_001754.5(RUNX1):c.489T>A (p.Phe163Leu)	RUNX1, RUNX1-AS1 (F136L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 575111	NM_001754.5(RUNX1):c.488T>G (p.Phe163Cys)	RUNX1, RUNX1-AS1 (F163C +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 376020	NM_001754.5(RUNX1):c.486G>C (p.Arg162Ser)	RUNX1, RUNX1-AS1 (R162S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 376019	NM_001754.5(RUNX1):c.486G>T (p.Arg162Ser)	RUNX1, RUNX1-AS1 (R162S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 376021	NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys)	RUNX1, RUNX1-AS1 (R162K +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome +1 more	GLikely pathogenic STier I - Strong FDA Recognized database
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	GLikely pathogenic FDA Recognized database
Select item 14471	NM_001754.5(RUNX1):c.467C>A (p.Ala156Glu)	RUNX1, RUNX1-AS1 (A129E +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely pathogenic FDA Recognized database
Select item 14470	NM_001754.5(RUNX1):c.442_449del (p.Thr148fs)	RUNX1, RUNX1-AS1 (T121fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 1142684	NM_001754.5(RUNX1):c.447A>C (p.Ala149=)	RUNX1-AS1, RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
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 1142251	NM_001754.5(RUNX1):c.426T>C (p.Ala142=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
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 463996	NM_001754.5(RUNX1):c.423G>A (p.Ser141=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign 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 463995	NM_001754.5(RUNX1):c.402T>C (p.Ala134=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 14468	NM_001754.5(RUNX1):c.400G>C (p.Ala134Pro)	RUNX1, RUNX1-AS1 (A107P +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 697148	NM_001754.5(RUNX1):c.393T>C (p.Thr131=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 463994	NM_001754.5(RUNX1):c.391A>G (p.Thr131Ala)	RUNX1, RUNX1-AS1 (T131A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 1021717	NM_001754.5(RUNX1):c.378T>G (p.Asp126Glu)	RUNX1, RUNX1-AS1 (D126E +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 463993	NM_001754.5(RUNX1):c.369T>A (p.Asp123Glu)	RUNX1, RUNX1-AS1 (D123E +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 861043	NM_001754.5(RUNX1):c.367G>A (p.Asp123Asn)	RUNX1, RUNX1-AS1 (D96N +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
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 761366	NM_001754.5(RUNX1):c.354G>C (p.Val118=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance 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 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

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Items: 76