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

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

Search results

Items: 1 to 100 of 1208

<< First< Prev

Page of 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 417477	NC_000021.9:g.(?_34787801)_(34799462_?)del	RUNX1	Deletion	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GLikely pathogenic FDA Recognized database
Select item 339792	NM_001754.5(RUNX1):c.*4250C>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339793	NM_001754.5(RUNX1):c.*4238G>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339794	NM_001754.5(RUNX1):c.*4188G>C	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 339795	NM_001754.5(RUNX1):c.*4147C>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 339796	NM_001754.5(RUNX1):c.*4140C>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
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 339798	NM_001754.5(RUNX1):c.*4003C>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 339799	NM_001754.5(RUNX1):c.*3977G>A	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339800	NM_001754.5(RUNX1):c.*3944G>A	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 339801	NM_001754.5(RUNX1):c.*3721A>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 897094	NM_001754.5(RUNX1):c.*3638G>A	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 339802	NM_001754.5(RUNX1):c.*3619A>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339803	NM_001754.5(RUNX1):c.*3588G>C	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 897095	NM_001754.5(RUNX1):c.*3582G>A	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 339805	NM_001754.5(RUNX1):c.*3574A>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GBenign FDA Recognized database
Select item 339806	NM_001754.5(RUNX1):c.*3527T>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 339807	NM_001754.5(RUNX1):c.*3444A>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 339809	NM_001754.5(RUNX1):c.*3380A>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GBenign FDA Recognized database
Select item 339810	NM_001754.5(RUNX1):c.*3345A>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GBenign FDA Recognized database
Select item 339811	NM_001754.5(RUNX1):c.*3297T>C	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 339812	NM_001754.5(RUNX1):c.*3277G>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 898728	NM_001754.5(RUNX1):c.*3090A>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339815	NM_001754.5(RUNX1):c.*3060T>C	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 898729	NM_001754.5(RUNX1):c.*3028T>C	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 339816	NM_001754.5(RUNX1):c.*3021A>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 339817	NM_001754.5(RUNX1):c.*2886T>C	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339818	NM_001754.5(RUNX1):c.*2840A>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339819	NM_001754.5(RUNX1):c.*2822C>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 339820	NM_001754.5(RUNX1):c.*2780A>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 339821	NM_001754.5(RUNX1):c.*2770C>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339822	NM_001754.5(RUNX1):c.*2768A>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 339824	NM_001754.5(RUNX1):c.*2642A>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339825	NM_001754.5(RUNX1):c.*2626A>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339827	NM_001754.5(RUNX1):c.*2533TG[10]	RUNX1	Microsatellite (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GBenign FDA Recognized database
Select item 339828	NM_001754.5(RUNX1):c.*2532G>A	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 896040	NM_001754.5(RUNX1):c.*2531C>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 339830	NM_001754.5(RUNX1):c.*2474T>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 339831	NM_001754.5(RUNX1):c.*2467dup	RUNX1	Duplication (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339833	NM_001754.5(RUNX1):c.*2329A>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339835	NM_001754.5(RUNX1):c.*2285A>C	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339837	NM_001754.5(RUNX1):c.*2201dup	RUNX1	Duplication (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 897627	NM_001754.5(RUNX1):c.*2201T>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 339838	NM_001754.5(RUNX1):c.*2193del	RUNX1	Deletion (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339839	NM_001754.5(RUNX1):c.*2005A>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 897628	NM_001754.5(RUNX1):c.*1967G>A	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 339841	NM_001754.5(RUNX1):c.*1823A>C	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 898790	NM_001754.5(RUNX1):c.*1788A>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 339842	NM_001754.5(RUNX1):c.*1720C>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339843	NM_001754.5(RUNX1):c.1683_1684del	RUNX1	Deletion (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339844	NM_001754.5(RUNX1):c.*1466G>A	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339845	NM_001754.5(RUNX1):c.*1455A>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 339846	NM_001754.5(RUNX1):c.*1430C>A	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 898792	NM_001754.5(RUNX1):c.*1360C>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 339848	NM_001754.5(RUNX1):c.*1213C>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 895825	NM_001754.5(RUNX1):c.*1158C>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 339849	NM_001754.5(RUNX1):c.*1138C>A	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339850	NM_001754.5(RUNX1):c.*1096A>C	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339851	NM_001754.5(RUNX1):c.*1012C>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 895827	NM_001754.5(RUNX1):c.*940G>A	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339853	NM_001754.5(RUNX1):c.*919A>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339855	NM_001754.5(RUNX1):c.*730dup	RUNX1	Duplication (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339856	NM_001754.5(RUNX1):c.*700dup	RUNX1	Duplication (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339857	NM_001754.5(RUNX1):c.*683G>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339859	NM_001754.5(RUNX1):c.*667del	RUNX1	Deletion (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339860	NM_001754.5(RUNX1):c.*613A>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339862	NM_001754.5(RUNX1):c.*582del	RUNX1	Deletion (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 896108	NM_001754.5(RUNX1):c.*569T>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339863	NM_001754.5(RUNX1):c.*559T>C	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339864	NM_001754.5(RUNX1):c.*484T>C	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339866	NM_001754.5(RUNX1):c.*429T>C	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339867	NM_001754.5(RUNX1):c.*264C>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 898857	NM_001754.5(RUNX1):c.*263C>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign 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 339869	NM_001754.5(RUNX1):c.*113C>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 339870	NM_001754.5(RUNX1):c.*107G>A	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign 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 339873	NM_001754.5(RUNX1):c.*68G>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign 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 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 463985	NM_001754.5(RUNX1):c.1440C>T (p.Tyr480=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 760384	NM_001754.5(RUNX1):c.1437C>T (p.Pro479=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 2420452	NM_001754.5(RUNX1):c.1434G>A (p.Arg478=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 2808406	NM_001754.5(RUNX1):c.1432_1433del (p.Arg478fs)	RUNX1 (R478fs +1 more)	Deletion (frameshift variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 2124494	NM_001754.5(RUNX1):c.1432A>C (p.Arg478=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 1571183	NM_001754.5(RUNX1):c.1428G>T (p.Val476=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 1052351	NM_001754.5(RUNX1):c.1427T>C (p.Val476Ala)	RUNX1 (V449A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 836080	NM_001754.5(RUNX1):c.1367_1426dup (p.Glu456_Ala475dup)	RUNX1	Duplication (inframe_insertion)	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 1922076	NM_001754.5(RUNX1):c.1425C>T (p.Ala475=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 942577	NM_001754.5(RUNX1):c.1423G>A (p.Ala475Thr)	RUNX1 (A448T +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 339874	NM_001754.5(RUNX1):c.1422G>T (p.Glu474Asp)	RUNX1 (E474D +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 836066	NM_001754.5(RUNX1):c.1420G>A (p.Glu474Lys)	RUNX1 (E447K +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 1954710	NM_001754.5(RUNX1):c.1419G>A (p.Glu473=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 570149	NM_001754.5(RUNX1):c.1418A>C (p.Glu473Ala)	RUNX1 (E473A +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 2028205	NM_001754.5(RUNX1):c.1417G>T (p.Glu473Ter)	RUNX1 (E473* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely pathogenic FDA Recognized database
Select item 409810	NM_001754.5(RUNX1):c.1416G>A (p.Leu472=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign 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

<< First< Prev

Page of 13