Related gene-specific medical variations for Gene (Select 2752) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3031880	NM_001033044.4(GLUL):c.456C>T (p.Asn152=)	GLUL, LOC126805944	Single nucleotide variant (synonymous variant)	GLUL-related disorder	GLikely benign
Select item 2901030	NM_001033044.4(GLUL):c.476-10G>A	GLUL, LOC126805944	Single nucleotide variant (intron variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 2828012	NM_001033044.4(GLUL):c.329-20T>G	GLUL, LOC126805944	Single nucleotide variant (intron variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 2580915	NM_001033044.4(GLUL):c.173C>G (p.Pro58Arg)	GLUL (P58R)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 2188510	NM_001033044.4(GLUL):c.572C>T (p.Ala191Val)	GLUL, LOC126805944 (A191V)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 2135535	NM_001033044.4(GLUL):c.475+9C>T	GLUL, LOC126805944	Single nucleotide variant (intron variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 2127273	NM_001033044.4(GLUL):c.603+16A>T	GLUL, LOC126805944	Single nucleotide variant (intron variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 2115011	NM_001033044.4(GLUL):c.590T>G (p.Val197Gly)	GLUL, LOC126805944 (V197G)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 2090342	NM_001033044.4(GLUL):c.467G>A (p.Gly156Glu)	GLUL, LOC126805944 (G156E)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 2058321	NM_001033044.4(GLUL):c.475+18A>T	GLUL, LOC126805944	Single nucleotide variant (intron variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 2048462	NM_001033044.4(GLUL):c.542G>A (p.Arg181Gln)	GLUL, LOC126805944 (R181Q)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 2001689	NM_001033044.4(GLUL):c.426A>G (p.Thr142=)	GLUL, LOC126805944	Single nucleotide variant (synonymous variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 1702985	NM_001033044.4(GLUL):c.329-2A>G	GLUL, LOC126805944	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 1667124	NM_001033044.4(GLUL):c.603+16A>G	GLUL, LOC126805944	Single nucleotide variant (intron variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 1531670	NM_001033044.4(GLUL):c.329-18A>T	GLUL, LOC126805944	Single nucleotide variant (intron variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 1514210	NM_001033044.4(GLUL):c.603+2dup	GLUL, LOC126805944	Duplication (splice donor variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 1260421	NM_001033044.4(GLUL):c.476-24T>C	GLUL, LOC126805944	Single nucleotide variant (intron variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency +1 more	GBenign
Select item 1228074	NM_001033044.4(GLUL):c.603+45T>C	GLUL, LOC126805944	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221536	NM_001033044.4(GLUL):c.475+71A>G	GLUL, LOC126805944	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1048524	NM_001033044.4(GLUL):c.415del (p.Leu139fs)	GLUL, LOC126805944 (L139fs)	Deletion (frameshift variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GPathogenic
Select item 875902	NM_001033044.4(GLUL):c.347C>T (p.Thr116Ile)	GLUL, LOC126805944 (T116I)	Single nucleotide variant (missense 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 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 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 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 724171	NM_001033044.4(GLUL):c.366C>T (p.Asp122=)	GLUL, LOC126805944	Single nucleotide variant (synonymous variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 376910	NM_001033044.4(GLUL):c.515G>C (p.Gly172Ala)	GLUL, LOC126805944 (G172A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 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 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 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 293946	NM_001033044.4(GLUL):c.355C>T (p.Arg119Trp)	GLUL, LOC126805944 (R119W)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293945	NM_001033044.4(GLUL):c.603+5G>A	GLUL, LOC126805944	Single nucleotide variant (intron variant)	GLUL-related disorder +2 more	GLikely benign

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Items: 34