ClinVar for Gene (Select 2752) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 269

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247901	NC_000001.10:g.(?_179520308)_(183559464_?)del	ACBD6, AXDND1 +29 more	Deletion	not provided	GPathogenic
Select item 3100400	NM_001033044.4(GLUL):c.677A>G (p.His226Arg)	GLUL (H226R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100399	NM_001033044.4(GLUL):c.317G>A (p.Arg106Gln)	GLUL (R106Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 3042614	NM_001033044.4(GLUL):c.186C>T (p.Phe62=)	GLUL	Single nucleotide variant (synonymous variant)	GLUL-related disorder	GLikely benign
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 3030606	NM_001033044.4(GLUL):c.1074G>T (p.Thr358=)	GLUL	Single nucleotide variant (synonymous variant)	GLUL-related disorder	GLikely benign
Select item 2987934	NM_001033044.4(GLUL):c.328+14C>T	GLUL	Single nucleotide variant (intron variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 2969898	NM_001033044.4(GLUL):c.166+15T>G	GLUL	Single nucleotide variant (intron variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 2963975	NM_001033044.4(GLUL):c.177G>A (p.Glu59=)	GLUL	Single nucleotide variant (synonymous variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 2918021	NM_001033044.4(GLUL):c.255T>C (p.Phe85=)	GLUL	Single nucleotide variant (synonymous variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	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 2735704	NM_001033044.4(GLUL):c.1038C>T (p.Cys346=)	GLUL	Single nucleotide variant (synonymous variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 2681299	NM_001033044.4(GLUL):c.838C>A (p.Arg280=)	GLUL	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2672238	NM_001033044.4(GLUL):c.-13-1G>A	GLUL	Single nucleotide variant (splice acceptor variant)	Glutamine synthetase stabilization disorder +1 more	GPathogenic/Likely pathogenic
Select item 2672237	NM_001033044.4(GLUL):c.1A>C (p.Met1Leu)	GLUL (M1L)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 16 +1 more	GPathogenic/Likely pathogenic
Select item 2639617	NM_001033044.4(GLUL):c.-14+850G>A	GLUL	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2639616	NM_001033044.4(GLUL):c.-14+913G>C	GLUL	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2631042	NM_001033044.4(GLUL):c.317_318delinsAG (p.Arg106Gln)	GLUL (R106Q)	Indel (missense variant)	GLUL-related disorder	GUncertain significance
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 2546678	NM_001033044.4(GLUL):c.811G>A (p.Glu271Lys)	GLUL (E271K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2413370	NM_001033044.4(GLUL):c.267C>G (p.Phe89Leu)	GLUL (F89L)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 2359955	NM_001033044.4(GLUL):c.1069C>T (p.Arg357Cys)	GLUL (R357C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303114	NM_001033044.4(GLUL):c.167-3C>T	GLUL	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2299540	NM_001033044.4(GLUL):c.926T>C (p.Ile309Thr)	GLUL (I309T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282454	NM_001033044.4(GLUL):c.943G>T (p.Gly315Cys)	GLUL (G315C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192329	NM_001033044.4(GLUL):c.870C>G (p.Pro290=)	GLUL	Single nucleotide variant (synonymous variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
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 2183203	NM_001033044.4(GLUL):c.898C>T (p.Leu300=)	GLUL	Single nucleotide variant (synonymous variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 2149333	NM_001033044.4(GLUL):c.753C>T (p.Gly251=)	GLUL	Single nucleotide variant (synonymous variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
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 2098099	NM_001033044.4(GLUL):c.316C>T (p.Arg106Ter)	GLUL (R106*)	Single nucleotide variant (nonsense)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 2095985	NM_001033044.4(GLUL):c.806A>G (p.Tyr269Cys)	GLUL (Y269C)	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 2089697	NM_001033044.4(GLUL):c.1065C>T (p.Leu355=)	GLUL	Single nucleotide variant (synonymous variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 2086765	NM_001033044.4(GLUL):c.166+13T>C	GLUL	Single nucleotide variant (intron variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 2085178	NM_001033044.4(GLUL):c.53T>C (p.Met18Thr)	GLUL (M18T)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 2084815	NM_001033044.4(GLUL):c.308A>G (p.Lys103Arg)	GLUL (K103R)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 2083023	NM_001033044.4(GLUL):c.237C>T (p.Leu79=)	GLUL	Single nucleotide variant (synonymous variant)	GLUL-related disorder +1 more	GLikely benign
Select item 2068201	NM_001033044.4(GLUL):c.622C>G (p.Pro208Ala)	GLUL (P208A)	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 2049343	NM_001033044.4(GLUL):c.810C>T (p.Ile270=)	GLUL	Single nucleotide variant (synonymous 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 2023587	NM_001033044.4(GLUL):c.68_82del (p.Gly23_Gln27del)	GLUL	Deletion (inframe_deletion)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 2015222	NM_001033044.4(GLUL):c.986T>C (p.Val329Ala)	GLUL (V329A)	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 1965008	NM_001033044.4(GLUL):c.1044C>G (p.Pro348=)	GLUL	Single nucleotide variant (synonymous variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 1963505	NM_001033044.4(GLUL):c.679C>T (p.Arg227Cys)	GLUL (R227C)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 1900819	NM_001033044.4(GLUL):c.680G>A (p.Arg227His)	GLUL (R227H)	Single nucleotide variant (missense 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 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
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 1702984	NM_001033044.4(GLUL):c.604-2A>G	GLUL	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 1671465	NM_001033044.4(GLUL):c.167-12T>A	GLUL	Single nucleotide variant (intron variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 1668270	NM_001033044.4(GLUL):c.328+16G>A	GLUL	Single nucleotide variant (intron variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
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 1657730	NM_001033044.4(GLUL):c.604-5T>C	GLUL	Single nucleotide variant (intron variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 1650212	NM_001033044.4(GLUL):c.166+12A>G	GLUL	Single nucleotide variant (intron variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 1591134	NM_001033044.4(GLUL):c.57C>T (p.Ser19=)	GLUL	Single nucleotide variant (synonymous variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 1588129	NM_001033044.4(GLUL):c.604-8G>A	GLUL	Single nucleotide variant (intron variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 1562233	NM_001033044.4(GLUL):c.651T>C (p.His217=)	GLUL	Single nucleotide variant (synonymous 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 1527470	GRCh37/hg19 1q25.3(chr1:180830413-183981164)	APOBEC4, ARPC5 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1521992	NM_001033044.4(GLUL):c.845A>G (p.Gln282Arg)	GLUL (Q282R)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
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 1510700	NC_000001.10:g.(?_179520308)_(183559464_?)dup	AXDND1, CACNA1E +29 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1498402	NM_001033044.4(GLUL):c.134G>A (p.Arg45Gln)	GLUL (R45Q)	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 1428594	NM_001033044.4(GLUL):c.956G>A (p.Arg319His)	GLUL (R319H)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 1411680	NM_001033044.4(GLUL):c.726C>T (p.Pro242=)	GLUL	Single nucleotide variant (synonymous variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 1406498	NM_001033044.4(GLUL):c.86T>C (p.Met29Thr)	GLUL (M29T)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 1403493	NM_001033044.4(GLUL):c.61C>T (p.Pro21Ser)	GLUL (P21S)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 1391817	NM_001033044.4(GLUL):c.1050G>A (p.Ser350=)	GLUL	Single nucleotide variant (synonymous variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	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 1374773	NM_001033044.4(GLUL):c.98T>C (p.Ile33Thr)	GLUL (I33T)	Single nucleotide variant (missense variant)	GLUL-related disorder +1 more	GUncertain significance
Select item 1371006	NM_001033044.4(GLUL):c.29A>G (p.Asn10Ser)	GLUL (N10S)	Single nucleotide variant (missense variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GUncertain significance
Select item 1348135	NM_001033044.4(GLUL):c.604-9C>T	GLUL	Single nucleotide variant (intron variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1312453	NM_001033044.4(GLUL):c.3G>A (p.Met1Ile)	GLUL (M1I)	Single nucleotide variant (missense variant +1 more)	Glutamine related condition +1 more	GUncertain significance
Select item 1273480	NM_001033044.4(GLUL):c.328+187T>G	GLUL	Single nucleotide variant (intron variant)	not provided	GBenign
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 1235830	NM_001033044.4(GLUL):c.-13-311G>C	GLUL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228669	NM_001033044.4(GLUL):c.166+154A>G	GLUL	Single nucleotide variant (intron variant)	not provided	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 1194257	NM_001033044.4(GLUL):c.1A>G (p.Met1Val)	GLUL (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1187386	NM_001033044.4(GLUL):c.-13-2A>G	GLUL	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1178723	NM_001033044.4(GLUL):c.-13-275_-13-269del	GLUL	Deletion (intron variant)	not provided	GBenign
Select item 1170242	NM_001033044.4(GLUL):c.328+19A>G	GLUL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1087461	NM_001033044.4(GLUL):c.996G>A (p.Glu332=)	GLUL	Single nucleotide variant (synonymous variant)	Congenital brain dysgenesis due to glutamine synthetase deficiency	GLikely benign
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 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

<< First< Prev

Page of 3