861[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 1282402	NC_000021.9:g.34787766A>G	RUNX1	Single nucleotide variant	not provided	GBenign
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 417476	NC_000021.9:g.(?_34787801)_(35048958_?)del	LOC109648314, LOC109648316 +23 more	Deletion	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic
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 897093	NM_001754.5(RUNX1):c.*3642C>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
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 339804	NM_001754.5(RUNX1):c.*3580T>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
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 897570	NM_001754.5(RUNX1):c.*3557C>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
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 339808	NM_001754.5(RUNX1):c.*3417A>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
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 898727	NM_001754.5(RUNX1):c.*3281G>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
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 339813	NM_001754.5(RUNX1):c.*3229C>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 339814	NM_001754.5(RUNX1):c.*3138C>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
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 895756	NM_001754.5(RUNX1):c.*2912A>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
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 339823	NM_001754.5(RUNX1):c.*2678A>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
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 339826	NM_001754.5(RUNX1):c.2594_2597del	RUNX1	Deletion (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
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 339829	NM_001754.5(RUNX1):c.*2517TG[8]	RUNX1	Microsatellite (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
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 896041	NM_001754.5(RUNX1):c.*2376G>A	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 339832	NM_001754.5(RUNX1):c.*2366G>A	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
Select item 896042	NM_001754.5(RUNX1):c.*2347C>A	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
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 339834	NM_001754.5(RUNX1):c.*2320T>G	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
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 339836	NM_001754.5(RUNX1):c.*2217dup	RUNX1	Duplication (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
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 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
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 339840	NM_001754.5(RUNX1):c.*1938C>T	RUNX1	Single nucleotide variant (3 prime UTR variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance
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

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