LOC129932057[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932075, LOC129932076 +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	ANGPTL1, APOBEC4 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 293961	NM_001033044.4(GLUL):c.-14+10del	GLUL, LOC129932057	Deletion (intron variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 874098	NM_001033044.4(GLUL):c.-33C>T	GLUL, LOC129932057	Single nucleotide variant (5 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293962	NM_001033044.4(GLUL):c.-43G>C	GLUL, LOC129932057	Single nucleotide variant (5 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GBenign
Select item 874099	NM_001033044.4(GLUL):c.-53T>C	GLUL, LOC129932057	Single nucleotide variant (5 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293963	NM_001033044.4(GLUL):c.-56C>T	GLUL, LOC129932057	Single nucleotide variant (5 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 875034	NM_001033044.4(GLUL):c.-80G>A	GLUL, LOC129932057	Single nucleotide variant (5 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293964	NM_001033044.4(GLUL):c.-110A>G	GLUL, LOC129932057	Single nucleotide variant (5 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 875035	NM_001033044.4(GLUL):c.-119G>A	GLUL, LOC129932057	Single nucleotide variant (5 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293965	NM_001033044.4(GLUL):c.-125A>G	GLUL, LOC129932057	Single nucleotide variant (5 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 293966	NM_002065.6(GLUL):c.-486T>C	GLUL, LOC129932057	Single nucleotide variant	Congenital brain dysgenesis due to glutamine synthetase deficiency	GBenign
Select item 875036	NM_002065.6(GLUL):c.-529G>T	GLUL, LOC129932057	Single nucleotide variant	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293967	NM_002065.6(GLUL):c.-564C>A	GLUL, LOC129932057	Single nucleotide variant	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293968	NM_002065.6(GLUL):c.-675_-674TC[1]	GLUL, LOC129932057	Microsatellite	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293969	NM_002065.6(GLUL):c.-680C>A	GLUL, LOC129932057	Single nucleotide variant	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293970	NM_002065.6(GLUL):c.-706C>T	GLUL, LOC129932057	Single nucleotide variant	Congenital brain dysgenesis due to glutamine synthetase deficiency	GBenign
Select item 293971	NM_002065.6(GLUL):c.-718G>C	GLUL, LOC129932057	Single nucleotide variant	Congenital brain dysgenesis due to glutamine synthetase deficiency	GBenign
Select item 293972	NM_002065.6(GLUL):c.-745C>T	GLUL, LOC129932057	Single nucleotide variant	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 875957	NM_002065.6(GLUL):c.-778G>T	GLUL, LOC129932057	Single nucleotide variant	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 875958	NM_002065.6(GLUL):c.-816C>G	GLUL, LOC129932057	Single nucleotide variant	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 875959	NM_002065.6(GLUL):c.-819G>A	LOC129932057, GLUL	Single nucleotide variant	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance

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Items: 27