"ISCA Site 6"[submitter] AND "DOCK8"[gene] - ClinVar

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Items: 30

	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 60415	GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1	AK3, BRD10 +270 more	Copy number loss	See cases	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 152906	GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1	AK3, BRD10 +217 more	Copy number loss	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 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	LOC126860572, LOC126860573 +217 more	Copy number loss	See cases	GPathogenic
Select item 145788	GRCh38/hg38 9p24.3(chr9:211086-356079)x3	DOCK8, DOCK8-AS1 +7 more	Copy number gain	See cases	GBenign/Likely benign
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	LOC130001436, LOC130001437 +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 59064	GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1	ADAMTSL1, AK3 +292 more	Copy number loss	See cases	GPathogenic
Select item 59062	GRCh38/hg38 9p24.3-24.1(chr9:220253-6073001)x1	LOC130001453, LOC130001454 +172 more	Copy number loss	See cases	GPathogenic
Select item 58451	GRCh38/hg38 9p24.3(chr9:242962-389294)x3	DOCK8, LOC126860552 +2 more	Copy number gain	See cases	GUncertain significance
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 395423	GRCh37/hg19 9p24.3(chr9:214048-239426)x1	DOCK8, DOCK8-AS1	Copy number loss	See cases	GLikely benign
Select item 395340	GRCh37/hg19 9p24.3(chr9:304377-639010)x3	DOCK8, KANK1	Copy number gain	See cases	GBenign
Select item 395289	GRCh37/hg19 9p24.3(chr9:367918-639010)x1	DOCK8, KANK1	Copy number loss	See cases	GUncertain significance
Select item 395051	GRCh37/hg19 9p24.3-24.2(chr9:213161-3497920)x1	DMRT1, DMRT2 +9 more	Copy number loss	See cases	GPathogenic
Select item 394938	GRCh37/hg19 9p24.3(chr9:379742-379899)x1	DOCK8	Copy number loss	See cases	GLikely benign
Select item 394851	GRCh37/hg19 9p24.3(chr9:118241-239426)x1	DOCK8, DOCK8-AS1 +2 more	Copy number loss	See cases	GLikely benign
Select item 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	ACER2, ACO1 +197 more	Copy number gain	See cases	GPathogenic
Select item 394262	GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1	AK3, BNC2 +50 more	Copy number loss	See cases	GPathogenic
Select item 394088	GRCh37/hg19 9p24.3(chr9:304377-332552)x1	DOCK8	Copy number loss	See cases	GUncertain significance
Select item 394043	GRCh37/hg19 9p24.3(chr9:404753-407272)x1	DOCK8	Copy number loss	See cases	GLikely pathogenic
Select item 393956	GRCh37/hg19 9p24.3(chr9:414668-703634)x3	DOCK8, KANK1	Copy number gain	See cases	GLikely benign
Select item 393883	GRCh37/hg19 9p24.3(chr9:156512-215717)x1	DOCK8, DOCK8-AS1 +1 more	Copy number loss	See cases	GLikely benign
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	CHMP5, VLDLR +215 more	Copy number gain	See cases	GPathogenic
Select item 393817	GRCh37/hg19 9p24.3(chr9:433653-465893)x1	DOCK8	Copy number loss	See cases	GUncertain significance

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Items: 30