3490[geneid] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 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 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	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 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 148576	GRCh38/hg38 4q12(chr4:56248102-57218522)x4	AASDH, ARL9 +39 more	Copy number gain	See cases	GUncertain significance
Select item 3216525	NM_000938.3(POLR2B):c.3449G>A (p.Arg1150Gln)	IGFBP7, POLR2B (R1143Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2392035	NM_001553.3(IGFBP7):c.841G>A (p.Glu281Lys)	IGFBP7 (E281K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 30280	NM_001553.3(IGFBP7):c.830-1G>A	IGFBP7	Single nucleotide variant (splice acceptor variant)	Familial retinal arterial macroaneurysm	GPathogenic
Select item 1252043	NM_001553.3(IGFBP7):c.829G>A (p.Gly277Ser)	IGFBP7 (G277S)	Single nucleotide variant (missense variant)	Familial retinal arterial macroaneurysm	GPathogenic
Select item 2281395	NM_001553.3(IGFBP7):c.730G>A (p.Gly244Arg)	IGFBP7 (G244R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479626	NM_001553.3(IGFBP7):c.723A>C (p.Glu241Asp)	IGFBP7 (E241D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 782942	NM_001553.3(IGFBP7):c.703-10T>C	IGFBP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3285539	NM_001553.3(IGFBP7):c.631G>C (p.Gly211Arg)	IGFBP7 (G211R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1299709	NM_001553.3(IGFBP7):c.585+4T>A	IGFBP7	Single nucleotide variant (intron variant)	Familial retinal arterial macroaneurysm +1 more	GBenign
Select item 3285541	NM_001553.3(IGFBP7):c.581A>G (p.Asn194Ser)	IGFBP7 (N194S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791477	NM_001553.3(IGFBP7):c.561G>A (p.Pro187=)	IGFBP7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2372335	NM_001553.3(IGFBP7):c.487G>C (p.Val163Leu)	IGFBP7 (V163L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051631	NM_001553.3(IGFBP7):c.431G>A (p.Gly144Glu)	IGFBP7, IGFBP7-AS1 (G144E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3045248	NM_001553.3(IGFBP7):c.403G>A (p.Ala135Thr)	IGFBP7, IGFBP7-AS1 (A135T)	Single nucleotide variant (non-coding transcript variant +1 more)	IGFBP7-related disorder	GBenign
Select item 2374326	NM_001553.3(IGFBP7):c.370G>A (p.Gly124Ser)	IGFBP7, IGFBP7-AS1 (G124S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299418	NM_001553.3(IGFBP7):c.314C>G (p.Pro105Arg)	IGFBP7, IGFBP7-AS1 (P105R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386352	NM_001553.3(IGFBP7):c.310G>A (p.Gly104Ser)	IGFBP7, IGFBP7-AS1 (G104S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3285538	NM_001553.3(IGFBP7):c.274A>G (p.Lys92Glu)	IGFBP7, IGFBP7-AS1 (K92E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244971	NM_001553.3(IGFBP7):c.255G>A (p.Met85Ile)	IGFBP7, IGFBP7-AS1 (M85I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215375	NM_001553.3(IGFBP7):c.250G>A (p.Gly84Ser)	IGFBP7, IGFBP7-AS1 (G84S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339098	NM_001553.3(IGFBP7):c.233G>A (p.Arg78Lys)	IGFBP7, IGFBP7-AS1 (R78K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222605	NM_001553.3(IGFBP7):c.229G>A (p.Gly77Ser)	IGFBP7, IGFBP7-AS1 (G77S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253307	NM_001553.3(IGFBP7):c.226G>A (p.Ala76Thr)	IGFBP7, IGFBP7-AS1 (A76T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3285540	NM_001553.3(IGFBP7):c.193C>T (p.Arg65Cys)	IGFBP7, IGFBP7-AS1 (R65C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339097	NM_001553.3(IGFBP7):c.167C>T (p.Ala56Val)	IGFBP7, IGFBP7-AS1 (A56V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045023	NM_001553.3(IGFBP7):c.101C>A (p.Pro34His)	IGFBP7, IGFBP7-AS1 (P34H)	Single nucleotide variant (missense variant)	IGFBP7-related disorder	GLikely benign
Select item 3108622	NM_001553.3(IGFBP7):c.83C>T (p.Ser28Phe)	IGFBP7, IGFBP7-AS1 (S28F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 2685108	GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808462	GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3	AASDH, ARL9 +36 more	Copy number gain	not provided	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 814558	GRCh37/hg19 4q12(chr4:57067953-57957651)x3	SRP72, SPINK2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 688169	GRCh37/hg19 4q12-13.1(chr4:57932502-59894298)x3	IGFBP7	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)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 395164	GRCh37/hg19 4q12(chr4:57915534-58084629)x3	IGFBP7	Copy number gain	See cases	GBenign
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 49