LOC124210606[gene] - ClinVar

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

Search results

Items: 86

	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 60415	GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1	AK3, BRD10 +270 more	Copy number loss	See cases	GPathogenic
Select item 152906	GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1	LOC130001516, LOC130001517 +217 more	Copy number loss	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 60416	GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 155570	GRCh38/hg38 9p24.3-24.1(chr9:203861-5094461)x1	AK3, CDC37L1 +125 more	Copy number loss	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 154196	GRCh38/hg38 9p24.3-24.2(chr9:203861-4585050)x1	DMRT1, GLIS3-AS2 +96 more	Copy number loss	See cases	GPathogenic
Select item 153821	GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1	AK3, BRD10 +223 more	Copy number loss	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 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	LOC130001517, LOC130001518 +484 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 1684649	Single allele	LOC130001502, LOC130001503 +233 more	Deletion	Chromosome 9p deletion syndrome	GPathogenic
Select item 154897	GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1	AK3, BRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 154749	GRCh38/hg38 9p24.3-24.1(chr9:204090-4970154)x3	LOC130001462, LOC130001463 +119 more	Copy number gain	See cases	GPathogenic
Select item 150751	GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1	AK3, BRD10 +228 more	Copy number loss	See cases	GPathogenic
Select item 144686	GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1	LOC130001526, LOC130001527 +247 more	Copy number loss	See cases	GPathogenic
Select item 151712	GRCh38/hg38 9p24.3-24.1(chr9:204104-6322471)x1	LOC130001462, LOC130001463 +183 more	Copy number loss	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 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 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 more	Copy number gain	See cases	GPathogenic
Select item 149060	GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1	AK3, BRD10 +230 more	Copy number loss	See cases	GPathogenic
Select item 149059	GRCh38/hg38 9p24.3-24.1(chr9:204104-5657733)x1	AK3, CD274 +155 more	Copy number loss	See cases	GPathogenic
Select item 148849	GRCh38/hg38 9p24.3-24.2(chr9:204104-3755031)x1	LOC130001465, LOC130001466 +75 more	Copy number loss	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 148677	GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1	AK3, BRD10 +215 more	Copy number loss	See cases	GPathogenic
Select item 148598	GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1	AK3, BRD10 +256 more	Copy number loss	See cases	GPathogenic
Select item 148381	GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1	AK3, BRD10 +224 more	Copy number loss	See cases	GPathogenic
Select item 148307	GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3	AK3, BRD10 +233 more	Copy number gain	See cases	GPathogenic
Select item 148301	GRCh38/hg38 9p24.3-24.1(chr9:204104-5695507)x1	AK3, CD274 +155 more	Copy number loss	See cases	GPathogenic
Select item 148264	GRCh38/hg38 9p24.3-24.1(chr9:204104-5426099)x3	AK3, CDC37L1 +131 more	Copy number gain	See cases	GPathogenic
Select item 148184	GRCh38/hg38 9p24.3-24.2(chr9:204104-3367760)x1	DMRT1, DMRT2 +66 more	Copy number loss	See cases	GPathogenic
Select item 146684	GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 146394	GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1	SNORD137, SPATA6L +303 more	Copy number loss	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 147839	GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 146719	GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1	SMARCA2, SNAPC3 +290 more	Copy number loss	See cases	GPathogenic
Select item 146254	GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1	AK3, BRD10 +232 more	Copy number loss	See cases	GPathogenic
Select item 146231	GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1	LOC130001441, LOC130001442 +215 more	Copy number loss	See cases	GPathogenic
Select item 144708	GRCh38/hg38 9p24.3-24.2(chr9:204193-4210335)x1	DMRT1, DMRT2 +82 more	Copy number loss	See cases	GPathogenic
Select item 144441	GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 144391	GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1	AK3, BRD10 +230 more	Copy number loss	See cases	GPathogenic
Select item 144343	GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1	LOC130001522, LOC130001523 +297 more	Copy number loss	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 144246	GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1	RCL1, RFX3 +230 more	Copy number loss	See cases	GPathogenic
Select item 60431	GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1	AK3, BRD10 +230 more	Copy number loss	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +539 more	Copy number gain	See cases	GPathogenic
Select item 59837	GRCh38/hg38 9p24.3-24.2(chr9:204193-3468435)x3	DMRT1, DMRT2 +67 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC130001520, LOC130001521 +410 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 57180	GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1	AK3, BRD10 +255 more	Copy number loss	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 152907	GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 151916	GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1	AK3, BRD10 +217 more	Copy number loss	See cases	GPathogenic
Select item 60441	GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 60440	GRCh38/hg38 9p24.3-24.1(chr9:211086-6106482)x1	AK3, BRD10 +179 more	Copy number loss	See cases	GPathogenic
Select item 59060	GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1	AK3, BRD10 +252 more	Copy number loss	See cases	GPathogenic
Select item 147703	GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1	LOC130001455, LOC130001456 +280 more	Copy number loss	See cases	GPathogenic
Select item 154621	GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1	AK3, BRD10 +213 more	Copy number loss	See cases	GPathogenic
Select item 146356	GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1	LOC105375972, LOC105375976 +295 more	Copy number loss	See cases	GPathogenic
Select item 146111	GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1	LOC121331319, LOC121740737 +222 more	Copy number loss	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 59065	GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1	LOC124210609, LOC124210610 +210 more	Copy number loss	See cases	GPathogenic
Select item 59064	GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1	ADAMTSL1, AK3 +292 more	Copy number loss	See cases	GPathogenic
Select item 59063	GRCh38/hg38 9p24.3-24.1(chr9:220253-5140455)x1	AK3, CDC37L1 +120 more	Copy number loss	See cases	GPathogenic
Select item 59062	GRCh38/hg38 9p24.3-24.1(chr9:220253-6073001)x1	LOC130001490, LOC130001491 +172 more	Copy number loss	See cases	GPathogenic
Select item 57352	GRCh38/hg38 9p24.3-24.2(chr9:220253-3793376)x1	DMRT1, DMRT2 +70 more	Copy number loss	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	SLC1A1, SLC24A2 +461 more	Copy number gain	See cases	GPathogenic
Select item 154563	GRCh38/hg38 9p24.3-24.2(chr9:266045-3346702)x1	DMRT1, DMRT2 +61 more	Copy number loss	See cases	GPathogenic
Select item 59066	GRCh38/hg38 9p24.3-24.2(chr9:280255-3905421)x1	DMRT1, DMRT2 +73 more	Copy number loss	See cases	GPathogenic
Select item 152943	GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1	AK3, BRD10 +273 more	Copy number loss	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	CDKN2B, CDKN2B-AS1 +412 more	Copy number gain	See cases	GPathogenic
Select item 57027	GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3	AK3, BRD10 +204 more	Copy number gain	See cases	GPathogenic
Select item 152115	GRCh38/hg38 9p24.3-24.2(chr9:1845513-3022547)x3	KCNV2, LOC110121197 +31 more	Copy number gain	See cases	GUncertain significance
Select item 57262	GRCh38/hg38 9p24.2(chr9:2267812-2684272)x3	LOC121740738, LOC124210606 +9 more	Copy number gain	See cases	GUncertain significance
Select item 59052	GRCh38/hg38 9p24.2(chr9:2324333-2501030)x1	LOC124210606, LOC126860557	Copy number loss	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 86