ClinVar for Gene (Select 57291) - ClinVar

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

Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	AFG2A, AFM +537 more	Copy number gain	not provided	GPathogenic
Select item 2685967	GRCh37/hg19 4q11-12(chr4:52685980-54252935)x3	DANCR, DCUN1D4 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2685108	GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 1809499	GRCh37/hg19 4q12(chr4:53434611-54079547)x3	DANCR, ERVMER34-1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1809000	GRCh37/hg19 4q12(chr4:53098544-53949065)x1	DANCR, ERVMER34-1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1808462	GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3	AASDH, ARL9 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1527087	GRCh37/hg19 4q12(chr4:53435144-54091178)	DANCR, ERVMER34-1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527086	GRCh37/hg19 4q12(chr4:53091609-53953124)	DANCR, ERVMER34-1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1340920	GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	CDKL2, LOC110120745 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 979469	GRCh37/hg19 4q12(chr4:53412128-53721683)x3	SNORA26, DANCR +3 more	Copy number gain	not provided	GUncertain significance
Select item 814551	GRCh37/hg19 4q12(chr4:53559425-53647330)x1	DANCR, ERVMER34-1 +2 more	Copy number loss	not provided	GLikely benign
Select item 687293	GRCh37/hg19 4q11-12(chr4:52685685-54040923)x3	DANCR, DCUN1D4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 687067	GRCh37/hg19 4q12(chr4:53413586-53676570)x3	DANCR, ERVMER34-1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 57309	GRCh38/hg38 4q12(chr4:51870025-55102392)x1	CHIC2, DANCR +65 more	Copy number loss	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 26