ClinVar for Gene (Select 64854) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +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 2491779	NM_022832.4(USP46):c.797G>A (p.Arg266Lys)	USP46 (R254K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482542	NM_022832.4(USP46):c.798A>C (p.Arg266Ser)	USP46 (R150S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379346	NM_022832.4(USP46):c.242C>T (p.Ala81Val)	USP46 (A81V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360079	NM_022832.4(USP46):c.233C>T (p.Thr78Met)	USP46 (T66M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309773	NM_022832.4(USP46):c.178C>T (p.Arg60Trp)	USP46 (R48W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284249	NM_022832.4(USP46):c.907G>A (p.Val303Ile)	USP46 (V291I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	ENAM, LOC116158492 +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 775965	NM_022832.4(USP46):c.963C>T (p.His321=)	USP46	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769633	NM_022832.4(USP46):c.165C>T (p.Phe55=)	USP46	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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	AASDH, ABLIM2 +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +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

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Links from Gene

Items: 33