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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1199613	NM_001754.5(RUNX1):c.613+158C>T	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 1219872	NM_001754.5(RUNX1):c.613+108G>A	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 1965125	NM_001754.5(RUNX1):c.613+20G>T	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
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 1597566	NM_001754.5(RUNX1):c.613+14C>G	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 1475629	NM_001754.5(RUNX1):c.613+6T>C	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance 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 2751155	NM_001754.5(RUNX1):c.612A>G (p.Arg204=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous 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 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, RUNX1-AS1 (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 hematologic cancer predisposition syndrome	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 1004688	NM_001754.5(RUNX1):c.599C>A (p.Pro200His)	RUNX1, RUNX1-AS1 (P173H +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1684411	NM_001754.5(RUNX1):c.598C>T (p.Pro200Ser)	RUNX1, RUNX1-AS1 (P173S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance 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 2029256	NM_001754.5(RUNX1):c.596G>C (p.Gly199Ala)	RUNX1, RUNX1-AS1 (G172A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance 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 hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 627343	NM_001754.5(RUNX1):c.595G>A (p.Gly199Arg)	RUNX1, RUNX1-AS1 (G199R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance 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 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 3340076	NM_001754.5(RUNX1):c.592G>A (p.Asp198Asn)	RUNX1, RUNX1-AS1 (D171N +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 570999	NM_001754.5(RUNX1):c.581_586del (p.Lys194_Ile195del)	RUNX1, RUNX1-AS1	Deletion (inframe_deletion)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance 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 1438546	NM_001754.5(RUNX1):c.585del (p.Thr196fs)	RUNX1, RUNX1-AS1 (T169fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 897773	NM_001754.5(RUNX1):c.585C>T (p.Ile195=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign 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 3340471	NM_001754.5(RUNX1):c.581A>T (p.Lys194Ile)	RUNX1, RUNX1-AS1 (K167I +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance 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 627100	NM_001754.5(RUNX1):c.578T>A (p.Ile193Asn)	RUNX1, RUNX1-AS1 (I193N +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 581130	NM_001754.5(RUNX1):c.577A>G (p.Ile193Val)	RUNX1, RUNX1-AS1 (I193V +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2716140	NM_001754.5(RUNX1):c.572G>A (p.Arg191Lys)	RUNX1, RUNX1-AS1 (R164K +1 more)	Single nucleotide variant (missense 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-AS1, RUNX1 (Y189* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 1612738	NM_001754.5(RUNX1):c.564C>T (p.Thr188=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign 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 2850045	NM_001754.5(RUNX1):c.560C>T (p.Ala187Val)	RUNX1, RUNX1-AS1 (A187V +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1014459	NM_001754.5(RUNX1):c.559G>A (p.Ala187Thr)	RUNX1, RUNX1-AS1 (A160T +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 840423	NM_001754.5(RUNX1):c.559G>T (p.Ala187Ser)	RUNX1, RUNX1-AS1 (A160S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1094238	NM_001754.5(RUNX1):c.558C>G (p.Val186=)	RUNX1-AS1, RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign 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 2116304	NM_001754.5(RUNX1):c.557T>G (p.Val186Gly)	RUNX1, RUNX1-AS1 (V159G +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance 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 561247	NM_001754.5(RUNX1):c.554A>C (p.Gln185Pro)	RUNX1, RUNX1-AS1 (Q185P +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2808511	NM_001754.5(RUNX1):c.551_552insTACCACAGAGCCATCTGTG (p.Gln185fs)	RUNX1, RUNX1-AS1 (Q158fs +1 more)	Insertion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic 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 2805900	NM_001754.5(RUNX1):c.546C>A (p.Asn182Lys)	RUNX1, RUNX1-AS1 (N155K +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1723808	NM_001754.5(RUNX1):c.546C>G (p.Asn182Lys)	RUNX1, RUNX1-AS1 (N155K +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance 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 1001532	NM_001754.5(RUNX1):c.535G>A (p.Val179Ile)	RUNX1, RUNX1-AS1 (V152I +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1670824	NM_001754.5(RUNX1):c.534T>G (p.Thr178=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 1496240	NM_001754.5(RUNX1):c.533C>G (p.Thr178Ser)	RUNX1, RUNX1-AS1 (T178S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 409812	NM_001754.5(RUNX1):c.530_532dup (p.Ile177dup)	RUNX1-AS1, RUNX1	Duplication (inframe_insertion)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance 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 hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1512969	NM_001754.5(RUNX1):c.527C>A (p.Thr176Asn)	RUNX1, RUNX1-AS1 (T149N +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2696801	NM_001754.5(RUNX1):c.524T>A (p.Leu175Gln)	RUNX1, RUNX1-AS1 (L175Q +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1404038	NM_001754.5(RUNX1):c.523C>G (p.Leu175Val)	RUNX1, RUNX1-AS1 (L175V +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2895963	NM_001754.5(RUNX1):c.522T>C (p.Thr174=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 1009408	NM_001754.5(RUNX1):c.521C>T (p.Thr174Ile)	RUNX1, RUNX1-AS1 (T147I +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2739759	NM_001754.5(RUNX1):c.520A>G (p.Thr174Ala)	RUNX1, RUNX1-AS1 (T147A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1528554	NM_001754.5(RUNX1):c.519C>T (p.Phe173=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1141521	NM_001754.5(RUNX1):c.513A>G (p.Lys171=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1684386	NM_001754.5(RUNX1):c.512A>T (p.Lys171Ile)	RUNX1, RUNX1-AS1 (K144I +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	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 835308	NM_001754.5(RUNX1):c.510G>T (p.Gly170=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 3061340	NM_001754.5(RUNX1):c.509-1G>A	RUNX1, RUNX1-AS1	Single nucleotide variant (splice acceptor variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1463552	NM_001754.5(RUNX1):c.509-3C>G	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2063095	NM_001754.5(RUNX1):c.509-7C>T	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 763009	NM_001754.5(RUNX1):c.509-8C>G	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 1146443	NM_001754.5(RUNX1):c.509-10G>A	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 1596540	NM_001754.5(RUNX1):c.509-12G>A	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 2042433	NM_001754.5(RUNX1):c.509-13C>T	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2084439	NM_001754.5(RUNX1):c.509-15A>G	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 1534186	NM_001754.5(RUNX1):c.509-18T>C	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 1670366	NM_001754.5(RUNX1):c.509-19C>T	RUNX1, RUNX1-AS1	Single nucleotide variant (intron 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 1222743	NM_001754.5(RUNX1):c.508+259C>T	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 1292682	NM_001754.5(RUNX1):c.508+232A>G	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 1651361	NM_001754.5(RUNX1):c.508+20T>C	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 561245	NM_001754.5(RUNX1):c.508+18A>G	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 2199190	NM_001754.5(RUNX1):c.508+14C>A	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 1592255	NM_001754.5(RUNX1):c.508+12G>A	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign 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 561241	NM_001754.5(RUNX1):c.494_508+5dup	RUNX1, RUNX1-AS1	Duplication (splice donor variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 837567	NM_001754.5(RUNX1):c.508+5G>A	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 14466	NM_001754.5(RUNX1):c.508+3del	RUNX1, RUNX1-AS1	Deletion (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	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	GPathogenic 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

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