ClinVar for MedGen (Select 965797) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336850	NM_001754.5(RUNX1):c.484_485delinsGC (p.Arg162Ala)	RUNX1, RUNX1-AS1 (R135A +1 more)	Indel (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3336849	NM_001754.5(RUNX1):c.1441T>G (p.Ter481Gly)	RUNX1	Single nucleotide variant (stop lost)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3336848	NM_001754.5(RUNX1):c.1145C>T (p.Pro382Leu)	RUNX1 (P355L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3336847	NM_001754.5(RUNX1):c.1243C>G (p.Gln415Glu)	RUNX1 (Q388E +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3336846	NM_001754.5(RUNX1):c.493G>C (p.Gly165Arg)	RUNX1, RUNX1-AS1 (G138R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3255399	NM_001754.5(RUNX1):c.98-1560C>T	LOC130066597, RUNX1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 3255398	NM_001754.5(RUNX1):c.423_424insAACC (p.Ala142fs)	RUNX1, RUNX1-AS1 (A115fs +1 more)	Insertion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 3255397	NM_001754.5(RUNX1):c.422_423insAACC (p.Ala142fs)	RUNX1-AS1, RUNX1 (A115fs +1 more)	Insertion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 3255396	NM_001754.5(RUNX1):c.697del (p.Arg233fs)	RUNX1 (R206fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 3255395	NM_001754.5(RUNX1):c.696del (p.Arg233fs)	RUNX1 (R206fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 3255394	NM_001754.5(RUNX1):c.637_638del (p.Gln213fs)	RUNX1 (Q186fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 3255393	NM_001754.5(RUNX1):c.349A>T (p.Lys117Ter)	RUNX1 (K117* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 3255392	NM_001754.5(RUNX1):c.698del (p.Arg233fs)	RUNX1 (R206fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 3255391	NM_001754.5(RUNX1):c.431T>A (p.Leu144Gln)	RUNX1, RUNX1-AS1 (L117Q +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3255390	NM_001754.5(RUNX1):c.425C>A (p.Ala142Asp)	RUNX1, RUNX1-AS1 (A115D +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3255389	NM_001754.5(RUNX1):c.-60+5G>C	RUNX1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 2820100	NM_001754.5(RUNX1):c.1221C>A (p.Tyr407Ter)	RUNX1 (Y407* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 2665101	NC_000021.8:g.(?_36164432)_(36421257_?)del	RUNX1	Deletion	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 2665100	Single allele		Deletion	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 2665099	NM_001754.5(RUNX1):c.968del (p.Thr323fs)	RUNX1 (T296fs +1 more)	Deletion (frameshift 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 2665097	NC_000021.8:g.(?_36171588)_(36421595_?)del	RUNX1	Deletion	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 2665096	NC_000021.8:g.(?_36252844)_(36253020_?)del	RUNX1	Deletion	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 2665095	Single allele		Deletion	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 2504110	NM_001754.5(RUNX1):c.1256_1262dup (p.Glu422fs)	RUNX1 (E395fs +1 more)	Duplication (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 2435493	NM_001754.5(RUNX1):c.619C>G (p.Arg207Gly)	RUNX1 (R180G +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2422003	NM_001754.5(RUNX1):c.227G>C (p.Arg76Pro)	RUNX1 (R49P +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2418762	NM_001754.5(RUNX1):c.143G>A (p.Ser48Asn)	RUNX1 (S21N +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2417866	NM_001754.5(RUNX1):c.719C>T (p.Pro240Leu)	RUNX1 (P213L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2201499	NM_001754.5(RUNX1):c.1200G>A (p.Ser400=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 2183638	NM_001754.5(RUNX1):c.950T>G (p.Leu317Arg)	RUNX1 (L290R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance 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 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 2164411	NM_001754.5(RUNX1):c.806-15T>C	RUNX1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 2163996	NM_001754.5(RUNX1):c.63C>A (p.Cys21Ter)	RUNX1 (C21*)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2151600	NM_001754.5(RUNX1):c.1088G>C (p.Gly363Ala)	RUNX1 (G363A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2150091	NM_001754.5(RUNX1):c.1197C>G (p.Ser399Arg)	RUNX1 (S372R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2145852	NM_001754.5(RUNX1):c.785A>G (p.Gln262Arg)	RUNX1 (Q262R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2130981	NM_001754.5(RUNX1):c.206G>T (p.Gly69Val)	RUNX1 (G42V +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2129871	NM_001754.5(RUNX1):c.1208_1214del (p.Tyr403fs)	RUNX1 (Y376fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 2126320	NM_001754.5(RUNX1):c.1099G>C (p.Gly367Arg)	RUNX1 (G340R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2126194	NM_001754.5(RUNX1):c.996C>G (p.Asp332Glu)	RUNX1 (D305E +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2123057	NM_001754.5(RUNX1):c.814C>T (p.Gln272Ter)	RUNX1 (Q272* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 2116304	NM_001754.5(RUNX1):c.557T>G (p.Val186Gly)	RUNX1-AS1, RUNX1 (V159G +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 2089328	NM_001754.5(RUNX1):c.1280G>C (p.Arg427Pro)	RUNX1 (R400P +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2089191	NM_001754.5(RUNX1):c.1250C>T (p.Ser417Phe)	RUNX1 (S390F +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2089097	NM_001754.5(RUNX1):c.1078G>C (p.Val360Leu)	RUNX1 (V360L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2088789	NM_001754.5(RUNX1):c.361C>G (p.Leu121Val)	RUNX1, RUNX1-AS1 (L121V +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2087940	NM_001754.5(RUNX1):c.1238_1240del (p.Ser413del)	RUNX1 (S386del +1 more)	Deletion (inframe_deletion)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2086009	NM_001754.5(RUNX1):c.1143G>A (p.Leu381=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 2078130	NM_001754.5(RUNX1):c.1148C>T (p.Pro383Leu)	RUNX1 (P383L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2076125	NM_001754.5(RUNX1):c.968C>G (p.Thr323Arg)	RUNX1 (T323R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2073628	NM_001754.5(RUNX1):c.310A>G (p.Thr104Ala)	RUNX1 (T104A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2071711	NM_001754.5(RUNX1):c.507A>G (p.Arg169=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2067048	NM_001754.5(RUNX1):c.991A>G (p.Ser331Gly)	RUNX1 (S331G +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2066747	NM_001754.5(RUNX1):c.968-15T>C	RUNX1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 2062797	NM_001754.5(RUNX1):c.1036C>T (p.Arg346Cys)	RUNX1 (R319C +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2061265	NM_001754.5(RUNX1):c.1353C>G (p.Asp451Glu)	RUNX1 (D424E +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2060834	NM_001754.5(RUNX1):c.1051G>A (p.Gly351Ser)	RUNX1 (G324S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2060504	NM_001754.5(RUNX1):c.803A>G (p.Gln268Arg)	RUNX1 (Q241R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2047695	NM_001754.5(RUNX1):c.415A>G (p.Asn139Asp)	RUNX1, RUNX1-AS1 (N112D +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance 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 2029145	NM_001754.5(RUNX1):c.351+3A>G	RUNX1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2024194	NM_001754.5(RUNX1):c.391_392insATCG (p.Thr131fs)	RUNX1, RUNX1-AS1 (T131fs +1 more)	Insertion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 2018650	NM_001754.5(RUNX1):c.723_729dup (p.Ala244fs)	RUNX1 (A217fs +1 more)	Duplication (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 2014537	NM_001754.5(RUNX1):c.799_800dup (p.Met267fs)	RUNX1 (M267fs +1 more)	Duplication (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 2011850	NM_001754.5(RUNX1):c.98-2A>G	RUNX1	Single nucleotide variant (synonymous variant +1 more)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 2011243	NM_001754.5(RUNX1):c.1092C>G (p.Ile364Met)	RUNX1 (I364M +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2008544	NM_001754.5(RUNX1):c.1085C>T (p.Ser362Leu)	RUNX1 (S362L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2003897	NM_001754.5(RUNX1):c.782dup (p.Gln262fs)	RUNX1 (Q235fs +1 more)	Duplication (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 2002610	NM_001754.5(RUNX1):c.1098C>G (p.Ile366Met)	RUNX1 (I366M +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2002578	NM_001754.5(RUNX1):c.1264G>A (p.Glu422Lys)	RUNX1 (E395K +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2001260	NM_001754.5(RUNX1):c.1247T>C (p.Phe416Ser)	RUNX1 (F389S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1999266	NM_001754.5(RUNX1):c.1037G>C (p.Arg346Pro)	RUNX1 (R319P +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1997400	NM_001754.5(RUNX1):c.967+6C>G	RUNX1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 1996224	NM_001754.5(RUNX1):c.505dup (p.Arg169fs)	RUNX1, RUNX1-AS1 (R169fs +1 more)	Duplication (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 1996223	NM_001754.5(RUNX1):c.979_983dup (p.Thr328_Ala329insTer)	RUNX1	Duplication (nonsense +1 more)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 1986052	NM_001754.5(RUNX1):c.1151C>T (p.Pro384Leu)	RUNX1 (P357L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1972477	NM_001754.5(RUNX1):c.893C>T (p.Pro298Leu)	RUNX1 (P271L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1951250	NM_001754.5(RUNX1):c.182C>G (p.Pro61Arg)	RUNX1 (P34R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1951248	NM_001754.5(RUNX1):c.1076C>T (p.Pro359Leu)	RUNX1 (P332L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1937674	NM_001754.5(RUNX1):c.185A>G (p.Asp62Gly)	RUNX1 (D35G +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1915570	NM_001754.5(RUNX1):c.954C>T (p.Ser318=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 1897839	NM_001754.5(RUNX1):c.285del (p.Asn96fs)	RUNX1 (N69fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic 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 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 1722154	NM_001754.5(RUNX1):c.418T>C (p.Tyr140His)	RUNX1, RUNX1-AS1 (Y113H +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1722136	NM_001754.5(RUNX1):c.251A>G (p.Asp84Gly)	RUNX1 (D57G +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance 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 1718102	NM_001754.5(RUNX1):c.1016T>G (p.Leu339Arg)	RUNX1 (L312R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1716418	NM_001754.5(RUNX1):c.988T>G (p.Phe330Val)	RUNX1 (F303V +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1713291	NM_001754.5(RUNX1):c.449C>A (p.Ala150Asp)	RUNX1, RUNX1-AS1 (A123D +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	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 1710503	NM_001754.5(RUNX1):c.1110del (p.Met371fs)	RUNX1 (M344fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 1709200	NM_001754.5(RUNX1):c.302TGC[1] (p.Leu102del)	RUNX1 (L102del +1 more)	Microsatellite (inframe_deletion)	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 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 1703793	NM_001754.5(RUNX1):c.1363del (p.Ala455fs)	RUNX1 (A428fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 1703791	NM_001754.5(RUNX1):c.1008C>G (p.Phe336Leu)	RUNX1 (F309L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database

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