ClinVar for Gene (Select 80008) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	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 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2551150	NM_024943.3(TMEM156):c.421T>C (p.Phe141Leu)	TMEM156 (F141L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535251	NM_024943.3(TMEM156):c.567A>T (p.Glu189Asp)	TMEM156 (E189D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522770	NM_024943.3(TMEM156):c.644C>T (p.Thr215Ile)	TMEM156 (T215I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490427	NM_024943.3(TMEM156):c.849G>C (p.Leu283Phe)	TMEM156 (L283F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427542	NC_000004.11:g.(?_38765721)_(39478735_?)dup	FAM114A1, KLB +9 more	Duplication	not provided	GUncertain significance
Select item 2389303	NM_024943.3(TMEM156):c.95C>T (p.Thr32Ile)	TMEM156 (T32I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378795	NM_024943.3(TMEM156):c.242G>A (p.Arg81His)	TMEM156 (R81H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2327115	NM_024943.3(TMEM156):c.353C>T (p.Ser118Leu)	TMEM156 (S118L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292300	NM_024943.3(TMEM156):c.647G>T (p.Trp216Leu)	TMEM156 (W216L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284356	NM_024943.3(TMEM156):c.758C>T (p.Thr253Ile)	TMEM156 (T253I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282099	NM_024943.3(TMEM156):c.722G>A (p.Arg241Lys)	TMEM156 (R241K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245426	NM_024943.3(TMEM156):c.580T>C (p.Cys194Arg)	TMEM156 (C194R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1527080	GRCh37/hg19 4p14(chr4:38717326-39382906)	FAM114A1, KLHL5 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1411128	NC_000004.11:g.(?_38765721)_(41750627_?)dup	KLB, LIAS +22 more	Duplication	Lipoic acid synthetase deficiency	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 562906	GRCh37/hg19 4p14(chr4:38723586-39382906)x3	FAM114A1, KLHL5 +6 more	Copy number gain	not provided	GUncertain significance
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
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 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	ABLIM2, ACOX3 +1209 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	LOC129992439, LOC129992440 +1039 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 31