ClinVar for Gene (Select 861) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3367906	NM_001754.5(RUNX1):c.329A>G (p.Lys110Arg)	RUNX1 (K110R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367216	NM_001754.5(RUNX1):c.293T>C (p.Leu98Pro)	RUNX1 (L71P +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3367215	NM_001754.5(RUNX1):c.328A>C (p.Lys110Gln)	RUNX1 (K110Q +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3367214	NM_001754.5(RUNX1):c.503G>A (p.Gly168Glu)	RUNX1, RUNX1-AS1 (G141E +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 3365552	NM_001754.5(RUNX1):c.1207_1210dup (p.His404fs)	RUNX1 (H377fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
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 3351124	NM_001754.5(RUNX1):c.*8G>C	RUNX1	Single nucleotide variant (3 prime UTR variant)	RUNX1-related disorder	GLikely benign
Select item 3348903	NM_001754.5(RUNX1):c.1272G>T (p.Ser424=)	RUNX1	Single nucleotide variant (synonymous variant)	RUNX1-related disorder	GLikely benign
Select item 3347992	NM_001754.5(RUNX1):c.1275G>T (p.Pro425=)	RUNX1	Single nucleotide variant (synonymous variant)	RUNX1-related disorder	GLikely benign
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 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 3342643	NM_001754.5(RUNX1):c.367dup (p.Asp123fs)	RUNX1, RUNX1-AS1 (D123fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 3340472	NM_001754.5(RUNX1):c.442_444dup (p.Thr148_Ala149insThr)	RUNX1, RUNX1-AS1	Duplication	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance 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 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 3340075	NM_001754.5(RUNX1):c.1118C>A (p.Ser373Ter)	RUNX1 (S346* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 3340074	NM_001754.5(RUNX1):c.331_336del (p.Thr111_Leu112del)	RUNX1	Deletion (inframe_deletion)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
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 3257846	NM_001754.5(RUNX1):c.553C>T (p.Gln185Ter)	RUNX1, RUNX1-AS1 (Q185* +1 more)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
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 3248151	NC_000021.8:g.(?_36164432)_(37834775_?)del	CBR1, CBR3 +6 more	Deletion	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3240393	NM_001754.5(RUNX1):c.1193C>G (p.Ala398Gly)	RUNX1 (A371G +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3240392	NM_001754.5(RUNX1):c.382A>T (p.Thr128Ser)	RUNX1, RUNX1-AS1 (T101S +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3240390	NM_001754.5(RUNX1):c.777_778dup (p.Asn260fs)	RUNX1 (N233fs +1 more)	Duplication (frameshift variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 3240389	NM_001754.5(RUNX1):c.76A>C (p.Asn26His)	RUNX1 (N26H)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3240388	NM_001754.5(RUNX1):c.1237T>G (p.Ser413Ala)	RUNX1 (S386A +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3240387	NM_001754.5(RUNX1):c.1100G>A (p.Gly367Asp)	RUNX1 (G340D +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3157196	NM_001754.5(RUNX1):c.565T>C (p.Tyr189His)	RUNX1, RUNX1-AS1 (Y189H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068261	NM_001754.5(RUNX1):c.465_467dup (p.Ala156_Arg157insAla)	RUNX1, RUNX1-AS1	Duplication (inframe_insertion)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 3068220	NM_001754.5(RUNX1):c.281G>C (p.Ser94Thr)	RUNX1 (S67T +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely pathogenic
Select item 3067798	NM_001754.5(RUNX1):c.801del (p.Met267fs)	RUNX1 (M240fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
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 3045268	NM_001754.5(RUNX1):c.747T>A (p.Pro249=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 3023071	NM_001754.5(RUNX1):c.1222G>C (p.Gly408Arg)	RUNX1 (G408R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3020821	NM_001754.5(RUNX1):c.1426G>T (p.Val476Leu)	RUNX1 (V449L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3019469	NM_001754.5(RUNX1):c.999G>C (p.Pro333=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 3018366	NM_001754.5(RUNX1):c.997C>T (p.Pro333Ser)	RUNX1 (P306S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3017323	NM_001754.5(RUNX1):c.1349G>A (p.Ser450Asn)	RUNX1 (S423N +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3009082	NM_001754.5(RUNX1):c.343G>A (p.Ala115Thr)	RUNX1 (A115T +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 3003823	NM_001754.5(RUNX1):c.145C>T (p.Pro49Ser)	RUNX1 (P22S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 2999541	NM_001754.5(RUNX1):c.1302C>T (p.Asn434=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 2997653	NM_001754.5(RUNX1):c.820C>T (p.Gln274Ter)	RUNX1 (Q247* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic
Select item 2996406	NM_001754.5(RUNX1):c.613+20G>A	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign
Select item 2996309	NM_001754.5(RUNX1):c.614-5A>C	RUNX1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign
Select item 2995907	NM_001754.5(RUNX1):c.1312G>A (p.Gly438Ser)	RUNX1 (G438S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 2995353	NM_001754.5(RUNX1):c.1183C>T (p.Pro395Ser)	RUNX1 (P368S +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2993180	NM_001754.5(RUNX1):c.1171G>C (p.Ala391Pro)	RUNX1 (A391P +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2990567	NM_001754.5(RUNX1):c.74T>C (p.Met25Thr)	RUNX1 (M25T)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2988050	NM_001754.5(RUNX1):c.1122C>G (p.Ala374=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign
Select item 2983698	NM_001754.5(RUNX1):c.1203C>T (p.Pro401=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 2979855	NM_001754.5(RUNX1):c.509-5C>T	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign
Select item 2972103	NM_001754.5(RUNX1):c.877T>C (p.Ser293Pro)	RUNX1 (S266P +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2965488	NM_001754.5(RUNX1):c.144C>A (p.Ser48Arg)	RUNX1 (S48R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 2960779	NM_001754.5(RUNX1):c.1260C>A (p.Gly420=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 2959673	NM_001754.5(RUNX1):c.121A>G (p.Thr41Ala)	RUNX1 (T41A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2958939	NM_001754.5(RUNX1):c.363A>G (p.Leu121=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 2958710	NM_001754.5(RUNX1):c.1127G>A (p.Arg376His)	RUNX1 (R349H +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2919908	NM_001754.5(RUNX1):c.968-18C>T	RUNX1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign
Select item 2917126	NM_001754.5(RUNX1):c.1046A>G (p.Tyr349Cys)	RUNX1 (Y322C +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2916977	NM_001754.5(RUNX1):c.1118C>T (p.Ser373Leu)	RUNX1 (S346L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2915634	NM_001754.5(RUNX1):c.806-16_806-13del	RUNX1	Deletion (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 2913412	NM_001754.5(RUNX1):c.12C>T (p.Asp4=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 2912699	NM_001754.5(RUNX1):c.1254G>C (p.Met418Ile)	RUNX1 (M391I +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2912549	NM_001754.5(RUNX1):c.196G>A (p.Ala66Thr)	RUNX1 (A66T +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 2911507	NM_001754.5(RUNX1):c.351+2T>C	RUNX1	Single nucleotide variant (splice donor variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 2910839	NM_001754.5(RUNX1):c.551C>T (p.Pro184Leu)	RUNX1, RUNX1-AS1 (P184L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 2905469	NM_001754.5(RUNX1):c.677G>C (p.Ser226Thr)	RUNX1 (S199T +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2903884	NM_001754.5(RUNX1):c.352-19T>C	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign
Select item 2900640	NM_001754.5(RUNX1):c.1155C>T (p.Tyr385=)	RUNX1	Single nucleotide variant (synonymous 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 2893433	NM_001754.5(RUNX1):c.716G>T (p.Ser239Ile)	RUNX1 (S212I +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2892904	NM_001754.5(RUNX1):c.58+10T>C	RUNX1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign
Select item 2888323	NM_001754.5(RUNX1):c.720A>C (p.Pro240=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 2887997	NM_001754.5(RUNX1):c.842A>G (p.Tyr281Cys)	RUNX1 (Y281C +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 2883235	NM_001754.5(RUNX1):c.341T>C (p.Ile114Thr)	RUNX1 (I114T +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2883142	NM_001754.5(RUNX1):c.648C>G (p.Pro216=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 2879675	NM_001754.5(RUNX1):c.284C>T (p.Pro95Leu)	RUNX1 (P68L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database

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