6023[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC132089671, LOC132089672 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	HRCT1, IFNA1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001672, LOC130001673 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	DMAC1, DMRT1 +898 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC03041, LINC03106 +898 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC126860576, LOC126860577 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001469, LOC130001470 +898 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +893 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ERVFRD-3, FAM219A +585 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +690 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	LOC126860615, LOC126860616 +435 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	LOC130001735, LOC130001736 +503 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	LOC129662434, LOC130001682 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 144556	GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3	ALDH1B1, ANKRD18A +219 more	Copy number gain	See cases	GPathogenic
Select item 2165455	NC_000009.12:g.35657652G>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1935489	NC_000009.12:g.35657657C>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1901974	NC_000009.12:g.35657669A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1350244	NC_000009.12:g.35657674T>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1942331	NC_000009.12:g.35657675T>C	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1047359	NC_000009.12:g.35657677G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 2871173	NC_000009.12:g.35657678G>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1054609	NC_000009.12:g.35657679_35657698del	RMRP	Deletion	Anauxetic dysplasia	GUncertain significance
Select item 2153166	NC_000009.12:g.35657680G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 2044503	NC_000009.12:g.35657681C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1418349	NC_000009.12:g.35657688T>C	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 2142788	NC_000009.12:g.35657699G>C	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1394664	NC_000009.12:g.35657704C>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1442278	NC_000009.12:g.35657706C>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 2414413	NC_000009.12:g.35657707G>C	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 2187718	NC_000009.12:g.35657707G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 2057405	NC_000009.12:g.35657712G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 2043490	NC_000009.12:g.35657718G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 2051492	NC_000009.12:g.35657720C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 2061883	NC_000009.12:g.35657725G>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 2195490	NC_000009.12:g.35657731C>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1166657	NC_000009.12:g.35657733_35657802dup	RMRP	Duplication	Anauxetic dysplasia	GBenign
Select item 1436285	NC_000009.12:g.35657737C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 2717167	NC_000009.12:g.35657739C>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 2139611	NC_000009.12:g.35657742G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1164489	NC_000009.12:g.35657744A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GBenign
Select item 1947498	NC_000009.12:g.35657751dup	RMRP	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 1450557	NC_000009.12:g.35657746A>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1176567	NC_000009.12:g.35657746A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GUncertain significance
Select item 779623	NR_003051.3(RMRP):n.268del	RMRP	Deletion	Anauxetic dysplasia	GBenign
Select item 2202574	NC_000009.12:g.35657747A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 2201959	NC_000009.12:g.35657748_35657749insG	RMRP	Insertion	Anauxetic dysplasia	GUncertain significance
Select item 552239	NR_003051.3(RMRP):n.271T>C	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type +4 more	GUncertain significance
Select item 550176	NR_003051.3(RMRP):n.270T>C	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GUncertain significance
Select item 2138952	NC_000009.12:g.35657750A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 2085195	NC_000009.12:g.35657751_35657753del	RMRP	Deletion	Anauxetic dysplasia	GUncertain significance
Select item 1350269	NC_000009.12:g.35657750A>C	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1419960	NR_003051.4(RMRP):n.269T>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1347746	NR_003051.4(RMRP):n.217_218insGCAGTGCGTGTCCGCGCACCAACCACACGGGGCTCATTCTCAGCGCGGCTGCTTTTTGTTCCCGAGACCA	RMRP	Insertion	Anauxetic dysplasia	GUncertain significance
Select item 465210	NR_003051.4(RMRP):n.269T>C	RMRP	Single nucleotide variant	Anauxetic dysplasia	GLikely benign
Select item 779624	NR_003051.4(RMRP):n.268G>C	RMRP	Single nucleotide variant	RMRP-related condition +1 more	GLikely benign
Select item 2719048	NR_003051.3(RMRP):n.253_265delTTCTCAGCGCGGC	RMRP	Deletion (non-coding transcript variant)	Anauxetic dysplasia	GUncertain significance
Select item 2199597	NR_003051.4(RMRP):n.267T>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 972235	NR_003051.4(RMRP):n.267T>C	RMRP	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 465208	NR_003051.4(RMRP):n.256_265delCTCAGCGCGG	RMRP	Deletion	Anauxetic dysplasia 1 +4 more	GConflicting classifications of pathogenicity
Select item 2075896	NR_003051.4(RMRP):n.266C>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 946869	NR_003051.4(RMRP):n.266C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 465209	NR_003051.4(RMRP):n.265G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 2160494	NR_003051.4(RMRP):n.264G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 2158074	NR_003051.4(RMRP):n.263_264delCGinsAA	RMRP	Indel	Anauxetic dysplasia	GUncertain significance
Select item 1299142	NR_003051.4(RMRP):n.264G>C	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 14209	NR_003051.4(RMRP):n.264G>T	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type +3 more	GPathogenic
Select item 1042954	NR_003051.4(RMRP):n.263C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 552081	NR_003051.4(RMRP):n.263C>G	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GUncertain significance
Select item 1039823	NR_003051.4(RMRP):n.262G>A	RMRP	Single nucleotide variant	not specified +1 more	GUncertain significance
Select item 2043612	NR_003051.4(RMRP):n.261C>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1054037	NR_003051.4(RMRP):n.260G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 2164290	NR_003051.4(RMRP):n.259A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 552460	NR_003051.4(RMRP):n.256C>A	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 552376	NR_003051.4(RMRP):n.256C>G	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 2013572	NR_003051.4(RMRP):n.255T>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 2577216	NR_003051.4(RMRP):n.254T>G	RMRP	Single nucleotide variant	not specified	GUncertain significance
Select item 2186425	NR_003051.4(RMRP):n.254T>C	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1982880	NR_003051.4(RMRP):n.246_254delGGGGCTCAT	RMRP	Deletion	Anauxetic dysplasia	GUncertain significance
Select item 2155963	NR_003051.4(RMRP):n.252C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 552824	NR_003051.4(RMRP):n.250C>T	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 654945	NR_003051.4(RMRP):n.247G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1386834	NR_003051.4(RMRP):n.245C>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 557593	NR_003051.4(RMRP):n.245C>T	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 553820	NR_003051.4(RMRP):n.237_242delCAACCA	RMRP	Deletion	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance

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