"GeneDx"[submitter] AND "RUNX1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 145

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 1282402	NC_000021.9:g.34787766A>G	RUNX1	Single nucleotide variant	not provided	GBenign
Select item 339797	NM_001754.5(RUNX1):c.*4032T>C	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GBenign FDA Recognized database
Select item 339868	NM_001754.5(RUNX1):c.*121G>C	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339871	NM_001754.5(RUNX1):c.*88G>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339872	NM_001754.5(RUNX1):c.*70T>C	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
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 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 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 2579542	NM_001754.5(RUNX1):c.1345C>T (p.Gln449Ter)	RUNX1 (Q422* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 3363507	NM_001754.5(RUNX1):c.1334G>A (p.Ser445Asn)	RUNX1 (S418N +1 more)	Single nucleotide variant (missense variant)	not provided	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 3370796	NM_001754.5(RUNX1):c.1310C>G (p.Thr437Ser)	RUNX1 (T410S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318841	NM_001754.5(RUNX1):c.1272G>A (p.Ser424=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign 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 1194557	NM_001754.5(RUNX1):c.1242C>G (p.Tyr414Ter)	RUNX1 (Y387* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 1211932	NM_001754.5(RUNX1):c.1221C>G (p.Tyr407Ter)	RUNX1 (Y380* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 941820	NM_001754.5(RUNX1):c.1219T>C (p.Tyr407His)	RUNX1 (Y380H +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3365552	NM_001754.5(RUNX1):c.1207_1210dup (p.His404fs)	RUNX1 (H377fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 532673	NM_001754.5(RUNX1):c.1190A>G (p.Gln397Arg)	RUNX1 (Q397R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 409806	NM_001754.5(RUNX1):c.1166_1186dup (p.Ser389_Pro395dup)	RUNX1	Duplication (inframe_insertion)	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 1723516	NM_001754.5(RUNX1):c.1183C>G (p.Pro395Ala)	RUNX1 (P368A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3372635	NM_001754.5(RUNX1):c.1152C>T (p.Pro384=)	RUNX1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 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 962238	NM_001754.5(RUNX1):c.1093G>A (p.Gly365Ser)	RUNX1 (G365S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +1 more	GUncertain significance
Select item 532667	NM_001754.5(RUNX1):c.1069C>T (p.Pro357Ser)	RUNX1 (P357S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 1577145	NM_001754.5(RUNX1):c.1056C>T (p.Ala352=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign 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 660838	NM_001754.5(RUNX1):c.1037G>A (p.Arg346His)	RUNX1 (R346H +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	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 409815	NM_001754.5(RUNX1):c.1007T>C (p.Phe336Ser)	RUNX1 (F336S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 532669	NM_001754.5(RUNX1):c.1006T>A (p.Phe336Ile)	RUNX1 (F336I +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1587386	NM_001754.5(RUNX1):c.990C>T (p.Phe330=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1247287	NM_001754.5(RUNX1):c.968-134A>G	RUNX1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 1243080	NM_001754.5(RUNX1):c.968-269G>A	RUNX1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 1684398	NM_001754.5(RUNX1):c.965C>G (p.Ser322Ter)	RUNX1 (S295* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 939981	NM_001754.5(RUNX1):c.959G>A (p.Arg320Gln)	RUNX1 (R293Q +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 532672	NM_001754.5(RUNX1):c.939_950del (p.Ala315_Ser318del)	RUNX1	Deletion (inframe_deletion)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign 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 3343122	NM_001754.5(RUNX1):c.926G>A (p.Gly309Asp)	RUNX1 (G282D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1711954	NM_001754.5(RUNX1):c.895G>A (p.Ala299Thr)	RUNX1 (A272T +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 999481	NM_001754.5(RUNX1):c.847C>A (p.Gln283Lys)	RUNX1 (Q256K +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 858173	NM_001754.5(RUNX1):c.844G>A (p.Asp282Asn)	RUNX1 (D282N +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 464009	NM_001754.5(RUNX1):c.824C>T (p.Pro275Leu)	RUNX1 (P275L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GBenign FDA Recognized database
Select item 862114	NM_001754.5(RUNX1):c.822A>T (p.Gln274His)	RUNX1 (Q247H +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2094507	NM_001754.5(RUNX1):c.806-1G>A	RUNX1	Single nucleotide variant (splice acceptor variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 1260410	NM_001754.5(RUNX1):c.805+12836A>G	RUNX1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 1255350	NM_001754.5(RUNX1):c.805+186C>T	RUNX1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign 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 2662455	NM_001754.5(RUNX1):c.769A>G (p.Thr257Ala)	RUNX1 (T230A +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 532682	NM_001754.5(RUNX1):c.744C>T (p.Asn248=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 239054	NM_001754.5(RUNX1):c.737C>T (p.Thr246Met)	RUNX1 (T246M +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 464004	NM_001754.5(RUNX1):c.712G>A (p.Val238Ile)	RUNX1 (V238I +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance 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 532663	NM_001754.5(RUNX1):c.668A>G (p.Glu223Gly)	RUNX1 (E223G +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 239053	NM_001754.5(RUNX1):c.667G>A (p.Glu223Lys)	RUNX1 (E223K +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2428796	NM_001754.5(RUNX1):c.657G>A (p.Leu219=)	RUNX1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 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 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 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 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 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 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 3342374	NM_001754.5(RUNX1):c.593A>G (p.Asp198Gly)	RUNX1, RUNX1-AS1 (D171G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 3368645	NM_001754.5(RUNX1):c.574G>A (p.Ala192Thr)	RUNX1, RUNX1-AS1 (A165T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 3365708	NM_001754.5(RUNX1):c.520A>C (p.Thr174Pro)	RUNX1, RUNX1-AS1 (T147P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205449	NM_001754.5(RUNX1):c.509-197T>C	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283817	NM_001754.5(RUNX1):c.509-281G>T	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1203357	NM_001754.5(RUNX1):c.508+182A>G	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207107	NM_001754.5(RUNX1):c.508+169G>A	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2443682	NM_001754.5(RUNX1):c.499A>G (p.Ser167Gly)	RUNX1, RUNX1-AS1 (S140G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1040026	NM_001754.5(RUNX1):c.493G>A (p.Gly165Ser)	RUNX1, RUNX1-AS1 (G165S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +1 more	GUncertain significance
Select item 1125165	NM_001754.5(RUNX1):c.492C>G (p.Val164=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2166136	NM_001754.5(RUNX1):c.490G>A (p.Val164Ile)	RUNX1, RUNX1-AS1 (V137I +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance 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 956982	NM_001754.5(RUNX1):c.475A>G (p.Asn159Asp)	RUNX1, RUNX1-AS1 (N132D +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1374525	NM_001754.5(RUNX1):c.455A>G (p.Lys152Arg)	RUNX1, RUNX1-AS1 (K125R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2580053	NM_001754.5(RUNX1):c.454A>C (p.Lys152Gln)	RUNX1, RUNX1-AS1 (K125Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 649370	NM_001754.5(RUNX1):c.422C>T (p.Ser141Leu)	RUNX1, RUNX1-AS1 (S114L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 660172	NM_001754.5(RUNX1):c.414A>T (p.Glu138Asp)	RUNX1, RUNX1-AS1 (E111D +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3343281	NM_001754.5(RUNX1):c.388G>C (p.Val130Leu)	RUNX1, RUNX1-AS1 (V103L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3342643	NM_001754.5(RUNX1):c.367dup (p.Asp123fs)	RUNX1, RUNX1-AS1 (D123fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic

<< First< Prev

Page of 2