"Illumina Laboratory Services, Illumina"[submitter] AND "GLUL"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 876751	NM_001033044.4(GLUL):c.*2691C>G	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293882	NM_001033044.4(GLUL):c.*2644G>C	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency +1 more	GBenign
Select item 873918	NM_001033044.4(GLUL):c.*2636C>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293884	NM_001033044.4(GLUL):c.*2631G>A	GLUL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 293883	NM_001033044.4(GLUL):c.*2631G>C	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293885	NM_001033044.4(GLUL):c.*2604C>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 873919	NM_001033044.4(GLUL):c.*2571C>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 873920	NM_001033044.4(GLUL):c.*2555G>C	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293886	NM_001033044.4(GLUL):c.*2516A>G	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GBenign
Select item 293887	NM_001033044.4(GLUL):c.*2494G>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 293888	NM_001033044.4(GLUL):c.*2463C>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293889	NM_001033044.4(GLUL):c.*2365G>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293890	NM_001033044.4(GLUL):c.*2313C>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293891	NM_001033044.4(GLUL):c.*2307C>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency +1 more	GBenign
Select item 874865	NM_001033044.4(GLUL):c.*2304T>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 874866	NM_001033044.4(GLUL):c.*2232C>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 874867	NM_001033044.4(GLUL):c.*2203A>G	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 875797	NM_001033044.4(GLUL):c.*2172C>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293892	NM_001033044.4(GLUL):c.*2130T>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 875798	NM_001033044.4(GLUL):c.*2128C>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293893	NM_001033044.4(GLUL):c.*2118T>C	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency +1 more	GBenign
Select item 293894	NM_001033044.4(GLUL):c.*2074dup	GLUL	Duplication (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293895	NM_001033044.4(GLUL):c.*2074G>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 293896	NM_001033044.4(GLUL):c.*2021G>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 875799	NM_001033044.4(GLUL):c.*1994G>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293897	NM_001033044.4(GLUL):c.*1978G>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 876791	NM_001033044.4(GLUL):c.*1961G>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293898	NM_001033044.4(GLUL):c.*1958G>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GBenign
Select item 876792	NM_001033044.4(GLUL):c.*1953C>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293899	NM_001033044.4(GLUL):c.*1932T>G	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293900	NM_001033044.4(GLUL):c.*1919A>G	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293902	NM_001033044.4(GLUL):c.*1913A>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency +1 more	GBenign
Select item 293901	NM_001033044.4(GLUL):c.1910_1913delinsTCATTTAAGT	GLUL	Indel (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293903	NM_001033044.4(GLUL):c.1909_1910insTCATTT	GLUL	Insertion (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GBenign
Select item 293904	NM_001033044.4(GLUL):c.*1790C>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293905	NM_001033044.4(GLUL):c.*1772C>G	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293906	NM_001033044.4(GLUL):c.*1762A>G	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 293907	NM_001033044.4(GLUL):c.*1692A>G	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 873978	NM_001033044.4(GLUL):c.*1676T>C	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 873979	NM_001033044.4(GLUL):c.*1646C>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293908	NM_001033044.4(GLUL):c.*1596G>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293909	NM_001033044.4(GLUL):c.1594_1595del	GLUL	Deletion (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293910	NM_001033044.4(GLUL):c.1563_1566del	GLUL	Deletion (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293911	NM_001033044.4(GLUL):c.*1510G>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293912	NM_001033044.4(GLUL):c.*1467GT[1]	GLUL	Microsatellite (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 873980	NM_001033044.4(GLUL):c.*1442A>G	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293913	NM_001033044.4(GLUL):c.*1411C>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GBenign
Select item 293914	NM_001033044.4(GLUL):c.*1364G>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GBenign
Select item 293915	NM_001033044.4(GLUL):c.*1357T>G	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 874916	NM_001033044.4(GLUL):c.*1340C>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GBenign
Select item 293916	NM_001033044.4(GLUL):c.*1286ATT[1]	GLUL	Microsatellite (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 874917	NM_001033044.4(GLUL):c.*1289A>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 874918	NM_001033044.4(GLUL):c.*1281G>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293917	NM_001033044.4(GLUL):c.*1276C>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GBenign
Select item 293918	NM_001033044.4(GLUL):c.*1218G>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293919	NM_001033044.4(GLUL):c.*1058G>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293920	NM_001033044.4(GLUL):c.*1057A>G	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293921	NM_001033044.4(GLUL):c.*1033G>C	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293922	NM_001033044.4(GLUL):c.*981T>G	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293923	NM_001033044.4(GLUL):c.*966A>G	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GBenign
Select item 293924	NM_001033044.4(GLUL):c.*922A>G	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency +1 more	GLikely benign
Select item 293925	NM_001033044.4(GLUL):c.*919A>G	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency +1 more	GBenign
Select item 293926	NM_001033044.4(GLUL):c.*850T>C	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 875851	NM_001033044.4(GLUL):c.*849C>T	GLUL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 875852	NM_001033044.4(GLUL):c.*722A>C	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293927	NM_001033044.4(GLUL):c.*717T>C	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293928	NM_001033044.4(GLUL):c.*687A>G	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293929	NM_001033044.4(GLUL):c.*684dup	GLUL	Duplication (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 876849	NM_001033044.4(GLUL):c.*547C>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GBenign
Select item 876850	NM_001033044.4(GLUL):c.*527G>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293930	NM_001033044.4(GLUL):c.*492GA[2]	GLUL	Microsatellite (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293931	NM_001033044.4(GLUL):c.*481G>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293932	NM_001033044.4(GLUL):c.*465A>G	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency +1 more	GLikely benign
Select item 293933	NM_001033044.4(GLUL):c.*399C>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293934	NM_001033044.4(GLUL):c.*342T>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency +1 more	GBenign
Select item 874045	NM_001033044.4(GLUL):c.*306G>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293935	NM_001033044.4(GLUL):c.*305C>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 874046	NM_001033044.4(GLUL):c.*297C>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 874047	NM_001033044.4(GLUL):c.*289G>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293936	NM_001033044.4(GLUL):c.*272C>G	GLUL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 293937	NM_001033044.4(GLUL):c.*248dup	GLUL	Duplication (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 874048	NM_001033044.4(GLUL):c.*210T>C	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293938	NM_001033044.4(GLUL):c.*169G>A	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293939	NM_001033044.4(GLUL):c.*129G>T	GLUL	Single nucleotide variant (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency +1 more	GUncertain significance
Select item 293940	NM_001033044.4(GLUL):c.*101dup	GLUL	Duplication (3 prime UTR variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 874974	NM_001033044.4(GLUL):c.1093G>A (p.Gly365Ser)	GLUL (G365S)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293941	NM_001033044.4(GLUL):c.930C>T (p.Asn310=)	GLUL	Single nucleotide variant (synonymous variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GConflicting classifications of pathogenicity
Select item 293942	NM_001033044.4(GLUL):c.880C>T (p.Leu294=)	GLUL	Single nucleotide variant (synonymous variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GConflicting classifications of pathogenicity
Select item 293943	NM_001033044.4(GLUL):c.863A>G (p.Tyr288Cys)	GLUL (Y288C)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293944	NM_001033044.4(GLUL):c.825G>A (p.Glu275=)	GLUL	Single nucleotide variant (synonymous variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency +1 more	GBenign
Select item 789699	NM_001033044.4(GLUL):c.768C>T (p.Phe256=)	GLUL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 874975	NM_001033044.4(GLUL):c.714T>C (p.Phe238=)	GLUL	Single nucleotide variant (synonymous 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)	not provided +1 more	GLikely benign
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 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 293947	NM_001033044.4(GLUL):c.268C>T (p.Arg90Cys)	GLUL (R90C)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293948	NM_001033044.4(GLUL):c.238G>A (p.Val80Met)	GLUL (V80M)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 293949	NM_001033044.4(GLUL):c.195T>C (p.Ser65=)	GLUL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 875903	NM_001033044.4(GLUL):c.-14+1168C>T	GLUL	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 293950	NM_001033044.4(GLUL):c.-14+1136G>T	GLUL	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital brain dysgenesis due to glutamine synthetase deficiency +1 more	GBenign

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