GLDN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	LOC130057143, LOC130057144 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 17825	NC_000015.10:g.(51338597_?)_(51829837_51862810)inv	DMXL2, GLDN +27 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 1281028	NC_000015.10:g.51341320A>G	GLDN	Single nucleotide variant	not provided	GBenign
Select item 1287452	NC_000015.10:g.51341432G>A	GLDN	Single nucleotide variant	not provided	GBenign
Select item 798833	NM_181789.4(GLDN):c.18G>A (p.Glu6=)	GLDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 813924	NM_181789.4(GLDN):c.59T>C (p.Leu20Pro)	GLDN (L20P)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 11	GLikely pathogenic
Select item 2691006	NM_181789.4(GLDN):c.79T>C (p.Ser27Pro)	GLDN (S27P)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 11	GUncertain significance
Select item 1175345	NM_181789.4(GLDN):c.82G>C (p.Ala28Pro)	GLDN (A28P)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 11	GLikely pathogenic
Select item 807423	NM_181789.4(GLDN):c.86T>C (p.Leu29Pro)	GLDN (L29P)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 11	GLikely pathogenic
Select item 3100133	NM_181789.4(GLDN):c.89A>C (p.Asn30Thr)	GLDN (N30T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 807260	NM_181789.4(GLDN):c.95C>G (p.Ala32Gly)	GLDN (A32G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 268106	NM_181789.4(GLDN):c.95C>A (p.Ala32Glu)	GLDN (A32E)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 11	GLikely pathogenic
Select item 795962	NM_181789.4(GLDN):c.102G>C (p.Thr34=)	GLDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1272774	NM_181789.4(GLDN):c.180C>T (p.Arg60=)	GLDN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3100128	NM_181789.4(GLDN):c.187A>G (p.Ser63Gly)	GLDN (S63G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551107	NM_181789.4(GLDN):c.209C>A (p.Ala70Asp)	GLDN (A70D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 546754	NM_181789.4(GLDN):c.269C>T (p.Ala90Val)	GLDN (A90V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2474797	NM_181789.4(GLDN):c.284G>A (p.Ser95Asn)	GLDN (S95N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256070	NM_181789.4(GLDN):c.286C>G (p.His96Asp)	GLDN (H96D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100129	NM_181789.4(GLDN):c.293G>C (p.Gly98Ala)	GLDN (G98A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212657	NM_181789.4(GLDN):c.314G>C (p.Arg105Pro)	GLDN (R105P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1027905	NM_181789.4(GLDN):c.314G>A (p.Arg105His)	GLDN (R105H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2354619	NM_181789.4(GLDN):c.316G>A (p.Ala106Thr)	GLDN (A106T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 523974	NM_181789.4(GLDN):c.330del (p.Asp110fs)	GLDN (D110fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2289447	NM_181789.4(GLDN):c.337A>C (p.Met113Leu)	GLDN (M113L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 813925	NM_181789.4(GLDN):c.363+1G>A	GLDN	Single nucleotide variant (splice donor variant)	Lethal congenital contracture syndrome 11	GUncertain significance
Select item 3036435	NM_181789.4(GLDN):c.363+7G>T	GLDN	Single nucleotide variant (intron variant)	GLDN-related condition	GLikely benign
Select item 1262424	NM_181789.4(GLDN):c.363+11T>G	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222818	NM_181789.4(GLDN):c.363+60G>T	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294835	NM_181789.4(GLDN):c.363+68G>T	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289339	NM_181789.4(GLDN):c.363+81_363+97del	GLDN	Deletion (intron variant)	not provided	GBenign
Select item 1255152	NM_181789.4(GLDN):c.363+99C>A	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274969	NM_181789.4(GLDN):c.364-147G>C	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225115	NM_181789.4(GLDN):c.364-21A>C	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3049264	NM_181789.4(GLDN):c.376G>A (p.Val126Met)	GLDN (V126M +1 more)	Single nucleotide variant (missense variant)	GLDN-related condition	GLikely benign
Select item 916579	NM_181789.4(GLDN):c.385_392del (p.Cys129fs)	GLDN (C5fs +1 more)	Deletion (frameshift variant)	Lethal congenital contracture syndrome 11	GLikely pathogenic
Select item 1879295	NM_181789.4(GLDN):c.390C>T (p.Asn130=)	GLDN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1283669	NM_181789.4(GLDN):c.415+7T>C	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264047	NM_181789.4(GLDN):c.415+44G>A	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223110	NM_181789.4(GLDN):c.416-132C>T	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275000	NM_181789.4(GLDN):c.416-8C>T	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2629056	NM_181789.4(GLDN):c.418C>T (p.Pro140Ser)	GLDN (P140S +1 more)	Single nucleotide variant (missense variant)	GLDN-related condition	GUncertain significance
Select item 727391	NM_181789.4(GLDN):c.419C>T (p.Pro140Leu)	GLDN (P140L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1242815	NM_181789.4(GLDN):c.434-101del	GLDN	Deletion (intron variant)	not provided	GBenign
Select item 3037490	NM_181789.4(GLDN):c.440C>T (p.Pro147Leu)	GLDN (P147L +1 more)	Single nucleotide variant (missense variant)	GLDN-related condition	GLikely benign
Select item 3100130	NM_181789.4(GLDN):c.466A>G (p.Asn156Asp)	GLDN (N156D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788127	NM_181789.4(GLDN):c.468C>T (p.Asn156=)	GLDN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1294840	NM_181789.4(GLDN):c.472T>G (p.Leu158Val)	GLDN (L158V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 268108	NM_181789.4(GLDN):c.541+1G>A	GLDN	Single nucleotide variant (splice donor variant)	Lethal congenital contracture syndrome 11	GPathogenic
Select item 1233448	NM_181789.4(GLDN):c.541+127C>T	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290578	NM_181789.4(GLDN):c.541+143A>G	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272062	NM_181789.4(GLDN):c.542-222AATA[6]	GLDN	Microsatellite (intron variant)	not provided	GBenign
Select item 3100131	NM_181789.4(GLDN):c.593A>G (p.His198Arg)	GLDN (H198R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315941	NM_181789.4(GLDN):c.632G>A (p.Gly211Glu)	GLDN (G211E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 753181	NM_181789.4(GLDN):c.657A>G (p.Lys219=)	GLDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2471869	NM_181789.4(GLDN):c.664G>A (p.Val222Met)	GLDN (V98M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046056	NM_181789.4(GLDN):c.688+5G>C	GLDN	Single nucleotide variant (intron variant)	GLDN-related condition	GLikely benign
Select item 1245993	NM_181789.4(GLDN):c.688+72G>A	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234703	NM_181789.4(GLDN):c.688+96T>C	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182706	NM_181789.4(GLDN):c.689-121_689-120insTCCT	GLDN	Insertion (intron variant)	not provided	GBenign
Select item 1289352	NM_181789.4(GLDN):c.689-43A>C	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3055408	NM_181789.4(GLDN):c.689-19TC[7]	GLDN	Microsatellite (intron variant)	GLDN-related condition	GBenign
Select item 2630091	NM_181789.4(GLDN):c.689-2A>G	GLDN	Single nucleotide variant (splice acceptor variant)	GLDN-related condition	GLikely pathogenic
Select item 712166	NM_181789.4(GLDN):c.689-2A>C	GLDN	Single nucleotide variant (splice acceptor variant)	not provided	GLikely benign
Select item 2524207	NM_181789.4(GLDN):c.691G>A (p.Ala231Thr)	GLDN (A231T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371447	NM_181789.4(GLDN):c.691G>C (p.Ala231Pro)	GLDN (A107P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256980	NM_181789.4(GLDN):c.692C>G (p.Ala231Gly)	GLDN (A231G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402216	NM_181789.4(GLDN):c.712C>T (p.Pro238Ser)	GLDN (P114S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369969	NM_181789.4(GLDN):c.715G>A (p.Gly239Ser)	GLDN (G115S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 268104	NM_181789.4(GLDN):c.758del (p.Pro253fs)	GLDN (P129fs +1 more)	Deletion (frameshift variant)	Lethal congenital contracture syndrome 11	GPathogenic
Select item 3029867	NM_181789.4(GLDN):c.762A>G (p.Gly254=)	GLDN	Single nucleotide variant (synonymous variant)	GLDN-related condition	GLikely benign
Select item 3100132	NM_181789.4(GLDN):c.784C>T (p.Arg262Trp)	GLDN (R262W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038968	NM_181789.4(GLDN):c.785G>A (p.Arg262Gln)	GLDN (R138Q +1 more)	Single nucleotide variant (missense variant)	GLDN-related condition	GLikely benign
Select item 1285294	NM_181789.4(GLDN):c.794G>A (p.Ser265Asn)	GLDN (S141N +1 more)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 11	GBenign
Select item 2663883	NM_181789.4(GLDN):c.817+1G>A	GLDN	Single nucleotide variant (splice donor variant)	Lethal congenital contracture syndrome 11	GLikely pathogenic
Select item 1267205	NM_181789.4(GLDN):c.818-29G>T	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3048618	NM_181789.4(GLDN):c.836C>G (p.Pro279Arg)	GLDN (P155R +1 more)	Single nucleotide variant (missense variant)	GLDN-related condition	GLikely benign
Select item 3038959	NM_181789.4(GLDN):c.848C>T (p.Thr283Ile)	GLDN (T159I +1 more)	Single nucleotide variant (missense variant)	GLDN-related condition	GLikely benign
Select item 3100134	NM_181789.4(GLDN):c.928C>G (p.Pro310Ala)	GLDN (P186A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 546755	NM_181789.4(GLDN):c.931G>A (p.Val311Met)	GLDN (V311M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2308794	NM_181789.4(GLDN):c.971T>A (p.Ile324Lys)	GLDN (I324K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 870381	NM_181789.4(GLDN):c.980_981del (p.Ser327fs)	GLDN (S203fs +1 more)	Deletion (frameshift variant)	Lethal congenital contracture syndrome 11 +1 more	GPathogenic/Likely pathogenic
Select item 978637	NM_181789.4(GLDN):c.1027G>A (p.Gly343Ser)	GLDN (G219S +1 more)	Single nucleotide variant (missense variant)	Multiple joint contractures +1 more	GLikely pathogenic
Select item 974889	NM_181789.4(GLDN):c.1028-2A>T	GLDN	Single nucleotide variant (splice acceptor variant)	Lethal congenital contracture syndrome 11	GLikely pathogenic
Select item 3100123	NM_181789.4(GLDN):c.1036G>A (p.Val346Ile)	GLDN (V222I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037767	NM_181789.4(GLDN):c.1051G>A (p.Asp351Asn)	GLDN (D227N +1 more)	Single nucleotide variant (missense variant)	GLDN-related condition	GBenign
Select item 2598792	NM_181789.4(GLDN):c.1057C>A (p.Pro353Thr)	GLDN (P229T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 813290	NM_181789.4(GLDN):c.1093C>T (p.Leu365Phe)	GLDN (L241F +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1	GLikely pathogenic
Select item 2314538	NM_181789.4(GLDN):c.1160G>A (p.Gly387Asp)	GLDN (G387D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 692276	NM_181789.4(GLDN):c.1178G>A (p.Arg393Lys)	GLDN (R269K +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 1236723	NM_181789.4(GLDN):c.1179-52T>G	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452117	NM_181789.4(GLDN):c.1179-2A>G	GLDN	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2260325	NM_181789.4(GLDN):c.1214A>C (p.Lys405Thr)	GLDN (K405T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 268107	NM_181789.4(GLDN):c.1240C>T (p.Arg414Ter)	GLDN (R414* +1 more)	Single nucleotide variant (nonsense)	Polyhydramnios +1 more	GPathogenic
Select item 3075712	NM_181789.4(GLDN):c.1282G>C (p.Ala428Pro)	GLDN (A304P +1 more)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 11	GLikely pathogenic
Select item 488521	NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter)	GLDN (W435* +1 more)	Single nucleotide variant (nonsense)	Lethal congenital contracture syndrome 11 +4 more	GPathogenic/Likely pathogenic
Select item 2532927	NM_181789.4(GLDN):c.1313A>G (p.Tyr438Cys)	GLDN (Y314C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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