Related gene-specific medical variations for Gene (Select 861) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 3061340	NM_001754.5(RUNX1):c.509-1G>A	RUNX1, RUNX1-AS1	Single nucleotide variant (splice acceptor variant)	RUNX1-related disorder	GLikely pathogenic
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 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 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 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 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 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 2879097	NM_001754.5(RUNX1):c.430C>T (p.Leu144=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign
Select item 2874041	NM_001754.5(RUNX1):c.509-17C>T	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign
Select item 2865325	NM_001754.5(RUNX1):c.352-5T>A	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign
Select item 2852907	NM_001754.5(RUNX1):c.458del (p.Asn153fs)	RUNX1, RUNX1-AS1 (N153fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic
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 2840670	NM_001754.5(RUNX1):c.508_508+10del	RUNX1, RUNX1-AS1	Deletion (splice donor variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely pathogenic
Select item 2820865	NM_001754.5(RUNX1):c.411dup (p.Glu138Ter)	RUNX1, RUNX1-AS1 (E138* +1 more)	Duplication (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 2815164	NM_001754.5(RUNX1):c.397A>G (p.Met133Val)	RUNX1, RUNX1-AS1 (M106V +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2814451	NM_001754.5(RUNX1):c.480C>T (p.Asp160=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign
Select item 2813100	NM_001754.5(RUNX1):c.431T>C (p.Leu144Pro)	RUNX1, RUNX1-AS1 (L117P +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
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 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 2791325	NM_001754.5(RUNX1):c.352G>A (p.Val118Met)	RUNX1, RUNX1-AS1 (V118M +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2775524	NM_001754.5(RUNX1):c.501T>C (p.Ser167=)	RUNX1-AS1, RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 2759299	NM_001754.5(RUNX1):c.424del (p.Ala142fs)	RUNX1, RUNX1-AS1 (A115fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 2759147	NM_001754.5(RUNX1):c.613+12C>T	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign
Select item 2752186	NM_001754.5(RUNX1):c.407A>T (p.Asn136Ile)	RUNX1, RUNX1-AS1 (N109I +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 2751155	NM_001754.5(RUNX1):c.612A>G (p.Arg204=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 2746077	NM_001754.5(RUNX1):c.356dup (p.Ala120fs)	RUNX1, RUNX1-AS1 (A120fs +1 more)	Duplication (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic 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 hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 2717092	NM_001754.5(RUNX1):c.528del (p.Ile177fs)	RUNX1, RUNX1-AS1 (I177fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic
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 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 2678498	NM_001754.5(RUNX1):c.232A>C (p.Met78Leu)	RUNX1 (M51L +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2678497	NM_001754.5(RUNX1):c.1318G>A (p.Ala440Thr)	RUNX1 (A413T +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2678496	NM_001754.5(RUNX1):c.1277C>G (p.Pro426Arg)	RUNX1 (P399R +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2678494	NM_001754.5(RUNX1):c.388G>A (p.Val130Ile)	RUNX1, RUNX1-AS1 (V103I +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2678493	NM_001754.5(RUNX1):c.342C>G (p.Ile114Met)	RUNX1 (I114M +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2678492	NM_001754.5(RUNX1):c.694C>T (p.Arg232Trp)	RUNX1 (R205W +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2678491	NM_001754.5(RUNX1):c.1353C>A (p.Asp451Glu)	RUNX1 (D424E +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
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 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 2637205	NM_001754.5(RUNX1):c.482T>A (p.Leu161His)	RUNX1, RUNX1-AS1 (L134H +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2633656	NM_001754.5(RUNX1):c.509G>A (p.Gly170Glu)	RUNX1, RUNX1-AS1 (G143E +1 more)	Single nucleotide variant (missense variant)	RUNX1-related disorder	GUncertain significance
Select item 2628467	NM_001754.5(RUNX1):c.421T>C (p.Ser141Pro)	RUNX1, RUNX1-AS1 (S114P +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +1 more	GUncertain significance
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 2501756	NM_001754.5(RUNX1):c.386dup (p.Val130fs)	RUNX1, RUNX1-AS1 (V103fs +1 more)	Duplication (frameshift variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +1 more	GPathogenic
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 2268033	NM_001754.5(RUNX1):c.548C>T (p.Pro183Leu)	RUNX1, RUNX1-AS1 (P183L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2181528	NM_001754.5(RUNX1):c.432G>A (p.Leu144=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign 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 2174248	NM_001754.5(RUNX1):c.508+4C>A	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
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 2126813	NM_001754.5(RUNX1):c.557T>C (p.Val186Ala)	RUNX1, RUNX1-AS1 (V159A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 2119279	NM_001754.5(RUNX1):c.508+20T>G	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign
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 2113649	NM_001754.5(RUNX1):c.509-10G>C	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign
Select item 2112037	NM_001754.5(RUNX1):c.422C>A (p.Ser141Ter)	RUNX1, RUNX1-AS1 (S114* +1 more)	Single nucleotide variant (nonsense)	Acute myeloid leukemia +1 more	GPathogenic/Likely pathogenic
Select item 2108059	NM_001754.5(RUNX1):c.517T>C (p.Phe173Leu)	RUNX1, RUNX1-AS1 (F173L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 2103444	NM_001754.5(RUNX1):c.352-11C>T	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign
Select item 2099170	NM_001754.5(RUNX1):c.451A>T (p.Met151Leu)	RUNX1, RUNX1-AS1 (M151L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 2096033	NM_001754.5(RUNX1):c.453G>T (p.Met151Ile)	RUNX1, RUNX1-AS1 (M124I +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 2092471	NM_001754.5(RUNX1):c.385_395del (p.Leu129fs)	RUNX1, RUNX1-AS1 (L129fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 2091067	NM_001754.5(RUNX1):c.466G>A (p.Ala156Thr)	RUNX1, RUNX1-AS1 (A129T +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
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 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 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 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 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 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 2029556	NM_001754.5(RUNX1):c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala142fs)	RUNX1, RUNX1-AS1 (A142fs +1 more)	Insertion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic 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 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 2023119	NM_001754.5(RUNX1):c.613+1G>A	RUNX1, RUNX1-AS1	Single nucleotide variant (splice donor variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely pathogenic
Select item 2013398	NM_001754.5(RUNX1):c.361C>T (p.Leu121=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign
Select item 2000867	NM_001754.5(RUNX1):c.613+16T>C	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign
Select item 1999183	NM_001754.5(RUNX1):c.352-13G>T	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign
Select item 1996609	NM_001754.5(RUNX1):c.509-11T>C	RUNX1, RUNX1-AS1	Single nucleotide variant (intron variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign
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 1988566	NM_001754.5(RUNX1):c.474T>C (p.Phe158=)	RUNX1, RUNX1-AS1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely benign

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