DOCK8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 545373	NC_000009.12:g.(?_10000)_(400952_?)del	DOCK8, DOCK8-AS1 +20 more	Deletion	Schizophrenia	GLikely pathogenic
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 2499644	GRCh38/hg38 9p24.3(chr9:46587-273160)	DOCK8, DOCK8-AS1 +13 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 157129	NM_207305.4(FOXD4):c.-155989_*70213dup	LOC110120718, LOC124210604 +13 more	Duplication	Normal pregnancy	Gnot provided
Select item 58437	GRCh38/hg38 9p24.3(chr9:52389-356138)x3	DOCK8, DOCK8-AS1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 152051	GRCh38/hg38 9p24.3(chr9:62525-386070)x3	DOCK8, DOCK8-AS1 +16 more	Copy number gain	See cases	GLikely benign
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 1711111	NC_000009.12:g.139481_407477del	DOCK8, DOCK8-AS1 +9 more	Deletion	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 58447	GRCh38/hg38 9p24.3(chr9:146194-389294)x3	DOCK8, DOCK8-AS1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 144972	GRCh38/hg38 9p24.3(chr9:163131-271257)x3	DOCK8, DOCK8-AS1 +5 more	Copy number gain	See cases	GBenign
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 145917	GRCh38/hg38 9p24.3(chr9:185579-288161)x4	DOCK8, DOCK8-AS1 +7 more	Copy number gain	See cases	GLikely benign
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 58448	GRCh38/hg38 9p24.3(chr9:195399-340142)x3	DOCK8, DOCK8-AS1 +7 more	Copy number gain	See cases	GUncertain significance
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 152335	GRCh38/hg38 9p24.3(chr9:203861-547543)x3	DOCK8, DOCK8-AS1 +11 more	Copy number gain	See cases	GUncertain significance
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 146099	GRCh38/hg38 9p24.3(chr9:203993-381630)x3	DOCK8, DOCK8-AS1 +7 more	Copy number gain	See cases	GBenign
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 154774	GRCh38/hg38 9p24.3(chr9:204090-416321)x3	DOCK8, DOCK8-AS1 +7 more	Copy number gain	See cases	GLikely benign
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 154351	GRCh38/hg38 9p24.3(chr9:204090-318901)x3	LOC130001436, LOC130001437 +7 more	Copy number gain	See cases	GBenign
Select item 150751	GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1	AK3, BRD10 +228 more	Copy number loss	See cases	GPathogenic
Select item 150547	GRCh38/hg38 9p24.3(chr9:204090-271186)x3	DOCK8, DOCK8-AS1 +4 more	Copy number gain	See cases	GLikely benign
Select item 150073	GRCh38/hg38 9p24.3(chr9:204090-291379)x3	DOCK8-AS1, LOC126860552 +7 more	Copy number gain	See cases	GLikely benign
Select item 149777	GRCh38/hg38 9p24.3(chr9:204090-348963)x3	DOCK8, DOCK8-AS1 +7 more	Copy number gain	See cases	GLikely benign
Select item 149486	GRCh38/hg38 9p24.3(chr9:204090-416321)x1	DOCK8, DOCK8-AS1 +7 more	Copy number loss	See cases	GPathogenic
Select item 146812	GRCh38/hg38 9p24.3(chr9:204090-260429)x1	DOCK8, DOCK8-AS1 +4 more	Copy number loss	See cases	GUncertain significance
Select item 145429	GRCh38/hg38 9p24.3(chr9:204090-381572)x3	DOCK8, DOCK8-AS1 +7 more	Copy number gain	See cases	GBenign
Select item 145314	GRCh38/hg38 9p24.3(chr9:204090-280321)x3	DOCK8, DOCK8-AS1 +4 more	Copy number gain	See cases	GBenign
Select item 144686	GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1	LOC130001526, LOC130001527 +247 more	Copy number loss	See cases	GPathogenic
Select item 144450	GRCh38/hg38 9p24.3(chr9:204090-639077)x3	DOCK8, DOCK8-AS1 +13 more	Copy number gain	See cases	GBenign
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 149256	GRCh38/hg38 9p24.3(chr9:204104-1457665)x1	DMRT1, DMRT2 +26 more	Copy number loss	See cases	GUncertain significance
Select item 149090	GRCh38/hg38 9p24.3(chr9:204104-291408)x3	DOCK8, DOCK8-AS1 +7 more	Copy number gain	See cases	GLikely benign
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 146894	GRCh38/hg38 9p24.3(chr9:204104-343954)x3	DOCK8, DOCK8-AS1 +7 more	Copy number gain	See cases	GUncertain significance
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 224487	Single allele	LOC130001438, LOC130001439 +7 more	Deletion	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 161077	GRCh38/hg38 9p24.3(chr9:204193-332515)x1	DOCK8, DOCK8-AS1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 160980	GRCh38/hg38 9p24.3(chr9:204193-381489)x3	DOCK8, DOCK8-AS1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 160966	GRCh38/hg38 9p24.3(chr9:204193-280314)x3	DOCK8, DOCK8-AS1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 160965	GRCh38/hg38 9p24.3(chr9:204193-295405)x3	DOCK8, DOCK8-AS1 +7 more	Copy number gain	See cases	GUncertain significance
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 153099	GRCh38/hg38 9p24.3(chr9:204193-416351)x3	DOCK8, DOCK8-AS1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 147839	GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 147488	GRCh38/hg38 9p24.3(chr9:204193-1592365)x1	DMRT1, DMRT2 +29 more	Copy number loss	See cases	GPathogenic
Select item 147445	GRCh38/hg38 9p24.3(chr9:204193-254712)x1	DOCK8, DOCK8-AS1 +4 more	Copy number loss	See cases	GUncertain significance
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 146418	GRCh38/hg38 9p24.3(chr9:204193-280314)x1	DOCK8, DOCK8-AS1 +4 more	Copy number loss	See cases	GUncertain significance
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 59029	GRCh38/hg38 9p24.3(chr9:204193-315028)x1	DOCK8, DOCK8-AS1 +7 more	Copy number loss	See cases	GUncertain significance
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 57105	GRCh38/hg38 9p24.3(chr9:204193-266104)x3	DOCK8, DOCK8-AS1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 57084	GRCh38/hg38 9p24.3(chr9:204193-1288113)x3	DMRT1, DMRT2 +26 more	Copy number gain	See cases	GUncertain significance
Select item 57026	GRCh38/hg38 9p24.3(chr9:204193-1516367)x1	DMRT1, DMRT2 +27 more	Copy number loss	See cases	GUncertain significance
Select item 56988	GRCh38/hg38 9p24.3(chr9:204193-295405)x3	DOCK8, DOCK8-AS1 +7 more	Copy number gain	See cases	GBenign

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