"GeneDx"[submitter] AND "DOCK8-AS1"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 144972	GRCh38/hg38 9p24.3(chr9:163131-271257)x3	DOCK8, DOCK8-AS1 +5 more	Copy number gain	See cases	GBenign
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 151952	GRCh38/hg38 9p24.3(chr9:211086-314969)x3	DOCK8, DOCK8-AS1 +7 more	Copy number gain	See cases	GBenign
Select item 145922	GRCh38/hg38 9p24.3(chr9:211086-271257)x3	DOCK8, DOCK8-AS1 +4 more	Copy number gain	See cases	GLikely benign
Select item 59047	GRCh38/hg38 9p24.3(chr9:211086-274576)x1	DOCK8, DOCK8-AS1 +4 more	Copy number loss	See cases	GUncertain significance
Select item 1279302	NR_160804.1(DOCK8-AS1):n.1158A>G	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1187835	NR_160804.1(DOCK8-AS1):n.1072C>T	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1224206	NR_160804.1(DOCK8-AS1):n.1045C>G	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1220363	NR_160804.1(DOCK8-AS1):n.1032G>A	LOC130001435, DOCK8 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 674418	NM_203447.3(DOCK8):c.-173A>G	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant)	not specified +1 more	GBenign
Select item 1321799	NR_160804.1(DOCK8-AS1):n.904T>G	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 369626	NM_203447.3(DOCK8):c.-113C>T	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant)	not specified +2 more	GBenign
Select item 366225	NM_203447.4(DOCK8):c.-69T>C	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 512917	NM_203447.4(DOCK8):c.-12C>T	DOCK8-AS1, DOCK8	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 384896	NM_203447.4(DOCK8):c.12G>T (p.Leu4=)	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 429234	NM_203447.4(DOCK8):c.52A>G (p.Arg18Gly)	DOCK8, DOCK8-AS1 +1 more (R18G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 673270	NM_203447.4(DOCK8):c.53+28T>C	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 1204467	NM_203447.4(DOCK8):c.53+31G>T	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 235456	NM_203447.4(DOCK8):c.53+52T>G	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1233460	NM_203447.4(DOCK8):c.53+57A>C	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1205466	NM_203447.4(DOCK8):c.53+144C>G	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1270406	NM_203447.4(DOCK8):c.53+229T>C	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 676901	NM_203447.4(DOCK8):c.53+240A>C	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1206483	NM_203447.4(DOCK8):c.53+248G>A	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1250184	NM_203447.4(DOCK8):c.53+267A>G	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1281486	NM_203447.4(DOCK8):c.53+300G>A	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 253870	GRCh37/hg19 9p24.3(chr9:214254-433906)x3	DOCK8, DOCK8-AS1	Copy number gain	See cases	GUncertain significance
Select item 253670	GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3	CD274, RLN1 +59 more	Copy number gain	See cases	GPathogenic
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACO1, ADAMTSL1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253580	GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1	WASHC1, DOCK8-AS1 +40 more	Copy number loss	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 35