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	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 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	CCIN, SPATA31F1 +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	not provided +1 more	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	NC_000009.12:g.35657748A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia +4 more	GUncertain significance
Select item 550176	NC_000009.12:g.35657749A>G	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	NC_000009.12:g.35657751A>T	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	NC_000009.12:g.35657751A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GLikely benign
Select item 779624	NR_003051.4(RMRP):n.268G>C	RMRP	Single nucleotide variant	Anauxetic dysplasia	GLikely benign
Select item 2719048	NR_003051.4(RMRP):n.255_267del	RMRP	Deletion (non-coding transcript variant)	Anauxetic dysplasia	GUncertain significance
Select item 2199597	NC_000009.12:g.35657753A>C	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 +3 more	GPathogenic/Likely pathogenic
Select item 2075896	NC_000009.12:g.35657754G>C	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	NC_000009.12:g.35657756C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 2158074	NC_000009.12:g.35657756_35657757delinsTT	RMRP	Indel	Anauxetic dysplasia	GUncertain significance
Select item 1299142	NC_000009.12:g.35657756C>G	RMRP	Single nucleotide variant	not provided +1 more	GPathogenic/Likely pathogenic
Select item 14209	NR_003051.4(RMRP):n.264G>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GPathogenic
Select item 1042954	NC_000009.12:g.35657757G>A	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	Anauxetic dysplasia +1 more	GUncertain significance
Select item 2043612	NC_000009.12:g.35657759G>C	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1054037	NC_000009.12:g.35657760C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 2164290	NC_000009.12:g.35657761T>C	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	NC_000009.12:g.35657765A>C	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	NC_000009.12:g.35657766A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1982880	NC_000009.12:g.35657766_35657774del	RMRP	Deletion	Anauxetic dysplasia	GUncertain significance
Select item 2155963	NC_000009.12:g.35657768G>A	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 3069137	NR_003051.4(RMRP):n.246G>C	RMRP	Single nucleotide variant (non-coding transcript variant)	Metaphyseal chondrodysplasia, McKusick type	GPathogenic
Select item 1386834	NC_000009.12:g.35657775G>C	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

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