GLUL[gene] - ClinVar - NCBI

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	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	LOC129932082, LOC129932083 +561 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	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 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 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 1899360	NM_001033044.4(GLUL):c.1102C>T (p.Pro368Ser)	GLUL (P368S)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 1470976	NM_001033044.4(GLUL):c.1100A>G (p.Glu367Gly)	GLUL (E367G)	Single nucleotide variant (missense 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 501502	NM_001033044.4(GLUL):c.1085A>G (p.Asn362Ser)	GLUL (N362S)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency +2 more	GUncertain significance
Select item 1381399	NM_001033044.4(GLUL):c.1084A>G (p.Asn362Asp)	GLUL (N362D)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 1048523	NM_001033044.4(GLUL):c.1075T>G (p.Cys359Gly)	GLUL (C359G)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely pathogenic
Select item 3030606	NM_001033044.4(GLUL):c.1074G>T (p.Thr358=)	GLUL	Single nucleotide variant (synonymous variant)	GLUL-related disorder	GLikely benign
Select item 2359955	NM_001033044.4(GLUL):c.1069C>T (p.Arg357Cys)	GLUL (R357C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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