GLUD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC126860963, LOC126860964 +1008 more	Copy number gain	See cases	GPathogenic
Select item 153276	GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1	ADIRF, ADIRF-AS1 +174 more	Copy number loss	See cases	GPathogenic
Select item 58748	GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 147367	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1	ADIRF, ADIRF-AS1 +166 more	Copy number loss	See cases	GPathogenic
Select item 58751	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 155111	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1	ADIRF, ADIRF-AS1 +168 more	Copy number loss	See cases	GPathogenic
Select item 59702	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3	SHLD2, SNCG +168 more	Copy number gain	See cases	GPathogenic
Select item 33096	GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1	LOC132089876, LOC132090824 +163 more	Copy number loss	See cases	GPathogenic
Select item 58757	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1	LOC130004227, LOC130004228 +168 more	Copy number loss	See cases	GPathogenic
Select item 58755	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1	ADIRF, ADIRF-AS1 +175 more	Copy number loss	See cases	GPathogenic
Select item 59703	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3	ATAD1, ACTA2 +151 more	Copy number gain	See cases	GPathogenic
Select item 661198	NC_000010.11:g.(?_86755016)_(87965482_?)del	LOC111982877, LOC111982878 +61 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 646972	NC_000010.11:g.(?_86838866)_(87965482_?)del	ADIRF, ADIRF-AS1 +60 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 660158	NC_000010.11:g.(?_86875868)_(87894129_?)del	LOC130004268, LOC130004269 +57 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 301372	NM_005271.5(GLUD1):c.*1548C>T	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 301373	NM_005271.5(GLUD1):c.*1545C>T	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 877597	NM_005271.5(GLUD1):c.*1515A>G	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 877598	NM_005271.5(GLUD1):c.*1501G>C	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 301374	NM_005271.5(GLUD1):c.*1464C>T	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 301375	NM_005271.5(GLUD1):c.*1436G>A	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 877599	NM_005271.5(GLUD1):c.*1419T>G	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 877600	NM_005271.5(GLUD1):c.*1379C>T	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 301376	NM_005271.5(GLUD1):c.*1282G>C	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 301377	NM_005271.5(GLUD1):c.*1270C>T	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 301378	NM_005271.5(GLUD1):c.*1252T>C	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 878613	NM_005271.5(GLUD1):c.*1211T>C	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 878614	NM_005271.5(GLUD1):c.*1181C>A	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 301379	NM_005271.5(GLUD1):c.*1170dup	GLUD1	Duplication (3 prime UTR variant)	Hyperinsulinism, Dominant	GUncertain significance
Select item 878615	NM_005271.5(GLUD1):c.*1139T>C	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 878616	NM_005271.5(GLUD1):c.*998C>T	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 301380	NM_005271.5(GLUD1):c.*972G>A	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 301381	NM_005271.5(GLUD1):c.*970A>G	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 301382	NM_005271.5(GLUD1):c.*908T>C	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 879213	NM_005271.5(GLUD1):c.*868A>C	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 301383	NM_005271.5(GLUD1):c.*852A>G	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 301384	NM_005271.5(GLUD1):c.*496G>A	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 879214	NM_005271.5(GLUD1):c.*469C>A	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 301385	NM_005271.5(GLUD1):c.*355T>G	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 301386	NM_005271.5(GLUD1):c.*205A>G	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 301388	NM_005271.5(GLUD1):c.*64T>C	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 301387	NM_005271.5(GLUD1):c.*64T>G	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 301389	NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser)	GLUD1 (N551S +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2883537	NM_005271.5(GLUD1):c.1647G>C (p.Val549=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1601528	NM_005271.5(GLUD1):c.1647G>A (p.Val549=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GBenign
Select item 1431768	NM_005271.5(GLUD1):c.1637T>C (p.Val546Ala)	GLUD1 (V413A +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2866781	NM_005271.5(GLUD1):c.1617T>C (p.Tyr539=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2231080	NM_005271.5(GLUD1):c.1605A>T (p.Arg535Ser)	GLUD1 (R402S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3014990	NM_005271.5(GLUD1):c.1593A>T (p.Gly531=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 968471	NM_005271.5(GLUD1):c.1568G>A (p.Arg523His)	GLUD1 (R523H +2 more)	Single nucleotide variant (missense variant)	GLUD1-related condition +2 more	GUncertain significance
Select item 1974512	NM_005271.5(GLUD1):c.1558-5T>A	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 301390	NM_005271.5(GLUD1):c.1557+12G>A	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GConflicting classifications of pathogenicity
Select item 1775119	NM_005271.5(GLUD1):c.1554C>G (p.Ala518=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 16121	NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr)	GLUD1 (H507Y +2 more)	Single nucleotide variant (missense variant)	Familial hyperinsulinemia +1 more	GPathogenic/Likely pathogenic
Select item 2450847	NM_005271.5(GLUD1):c.1518G>A (p.Val506=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 301391	NM_005271.5(GLUD1):c.1515C>T (p.Ile505=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GConflicting classifications of pathogenicity
Select item 1072420	NM_005271.5(GLUD1):c.1507A>G (p.Lys503Glu)	GLUD1 (K336E +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GPathogenic
Select item 16123	NM_005271.5(GLUD1):c.1501T>C (p.Ser501Pro)	GLUD1 (S501P +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GPathogenic
Select item 880412	NM_005271.5(GLUD1):c.1500A>G (p.Ala500=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 211086	NM_005271.5(GLUD1):c.1498G>A (p.Ala500Thr)	GLUD1 (A500T +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1685333	NM_005271.5(GLUD1):c.1496G>C (p.Gly499Ala)	GLUD1 (G332A +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely pathogenic
Select item 226111	NM_005271.5(GLUD1):c.1496G>T (p.Gly499Val)	GLUD1 (G499V +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GPathogenic
Select item 16125	NM_005271.5(GLUD1):c.1496G>A (p.Gly499Asp)	GLUD1 (G499D +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GPathogenic
Select item 16124	NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser)	GLUD1 (G499S +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1572387	NM_005271.5(GLUD1):c.1495-14C>A	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 982988	NM_005271.5(GLUD1):c.1494G>A (p.Ser498=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 16122	NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu)	GLUD1 (S498L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1449697	NM_005271.5(GLUD1):c.1479C>A (p.Phe493Leu)	GLUD1 (F360L +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 129163	NM_005271.5(GLUD1):c.1470G>A (p.Thr490=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1912578	NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)	GLUD1 (P356R +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1438940	NM_005271.5(GLUD1):c.1466C>T (p.Pro489Leu)	GLUD1 (P356L +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1670560	NM_005271.5(GLUD1):c.1454T>C (p.Ile485Thr)	GLUD1 (I318T +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 533800	NM_005271.5(GLUD1):c.1442A>T (p.His481Leu)	GLUD1 (H481L +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 259739	NM_005271.5(GLUD1):c.1403-11dup	GLUD1	Duplication (intron variant)	Hyperinsulinism, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 301392	NM_005271.5(GLUD1):c.1403-11T>C	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GConflicting classifications of pathogenicity
Select item 435339	NM_005271.5(GLUD1):c.1403-40del	GLUD1	Deletion (intron variant)	not specified	GLikely benign
Select item 301393	NM_005271.5(GLUD1):c.1402+10G>A	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GConflicting classifications of pathogenicity
Select item 1679647	NM_005271.5(GLUD1):c.1402A>C (p.Met468Leu)	GLUD1 (M301L +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1698788	NM_005271.5(GLUD1):c.1379G>C (p.Arg460Thr)	GLUD1 (R293T +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 750991	NM_005271.5(GLUD1):c.1371A>G (p.Lys457=)	GLUD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2135702	NM_005271.5(GLUD1):c.1358G>A (p.Arg453His)	GLUD1 (R453H +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1770590	NM_005271.5(GLUD1):c.1350C>T (p.Ser450=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1109656	NM_005271.5(GLUD1):c.1344T>C (p.His448=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 880413	NM_005271.5(GLUD1):c.1279-3T>C	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 877652	NM_005271.5(GLUD1):c.1279-6G>A	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2004614	NM_005271.5(GLUD1):c.1279-19G>T	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1705039	NM_005271.5(GLUD1):c.1269G>C (p.Met423Ile)	GLUD1 (M256I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634795	NM_005271.5(GLUD1):c.1265T>C (p.Ile422Thr)	GLUD1 (I255T +2 more)	Single nucleotide variant (missense variant)	GLUD1-related condition	GUncertain significance
Select item 1376480	NM_005271.5(GLUD1):c.1249T>A (p.Phe417Ile)	GLUD1 (F284I +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1757730	NM_005271.5(GLUD1):c.1239T>A (p.Ala413=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2915994	NM_005271.5(GLUD1):c.1209A>G (p.Glu403=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1007983	NM_005271.5(GLUD1):c.1198-11CT[2]	GLUD1	Microsatellite (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 975403	NM_005271.5(GLUD1):c.1198-6T>C	GLUD1	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2715890	NM_005271.5(GLUD1):c.1198-9C>T	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GBenign
Select item 1598712	NM_005271.5(GLUD1):c.1198-9C>G	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GBenign
Select item 2140717	NM_005271.5(GLUD1):c.1197+20C>G	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1937004	NM_005271.5(GLUD1):c.1197+5C>A	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 650460	NM_005271.5(GLUD1):c.1181C>T (p.Pro394Leu)	GLUD1 (P227L +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1337885	NM_005271.5(GLUD1):c.1176C>T (p.Asn392=)	GLUD1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2916188	NM_005271.5(GLUD1):c.1175A>G (p.Asn392Ser)	GLUD1 (N392S +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 656107	NM_005271.5(GLUD1):c.1132A>G (p.Ile378Val)	GLUD1 (I378V +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance

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