ClinVar for Gene (Select 342035) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336674	NM_181789.4(GLDN):c.1525_1529del (p.Asp509fs)	GLDN (D385fs +1 more)	Deletion (frameshift variant)	Lethal congenital contracture syndrome 11	GLikely pathogenic
Select item 3281538	NM_181789.4(GLDN):c.745C>T (p.Pro249Ser)	GLDN (P125S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281537	NM_181789.4(GLDN):c.127G>T (p.Gly43Trp)	GLDN (G43W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281536	NM_181789.4(GLDN):c.64G>T (p.Ala22Ser)	GLDN (A22S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281535	NM_181789.4(GLDN):c.805G>A (p.Gly269Ser)	GLDN (G145S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254992	NM_181789.4(GLDN):c.1507C>T (p.Gln503Ter)	GLDN (Q379* +1 more)	Single nucleotide variant (nonsense)	Lethal congenital contracture syndrome 11	GLikely pathogenic
Select item 3252646	NM_181789.4(GLDN):c.62C>A (p.Ala21Glu)	GLDN (A21E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243901	NC_000015.9:g.(?_50731271)_(51634264_?)dup	AP4E1, CYP19A1 +6 more	Duplication	not provided	GUncertain significance
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 3100133	NM_181789.4(GLDN):c.89A>C (p.Asn30Thr)	GLDN (N30T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 3100129	NM_181789.4(GLDN):c.293G>C (p.Gly98Ala)	GLDN (G98A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3100127	NM_181789.4(GLDN):c.1523T>A (p.Phe508Tyr)	GLDN (F384Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100126	NM_181789.4(GLDN):c.1475T>C (p.Val492Ala)	GLDN (V368A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100125	NM_181789.4(GLDN):c.1397C>T (p.Thr466Met)	GLDN (T342M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 3055408	NM_181789.4(GLDN):c.689-19TC[7]	GLDN	Microsatellite (intron variant)	GLDN-related disorder	GBenign
Select item 3052968	NM_181789.4(GLDN):c.1422C>T (p.Asn474=)	GLDN	Single nucleotide variant (synonymous variant)	GLDN-related disorder	GLikely benign
Select item 3051096	NM_181789.4(GLDN):c.1473G>A (p.Arg491=)	GLDN	Single nucleotide variant (synonymous variant)	GLDN-related disorder	GLikely benign
Select item 3049264	NM_181789.4(GLDN):c.376G>A (p.Val126Met)	GLDN (V126M +1 more)	Single nucleotide variant (missense variant)	GLDN-related disorder	GLikely benign
Select item 3048618	NM_181789.4(GLDN):c.836C>G (p.Pro279Arg)	GLDN (P155R +1 more)	Single nucleotide variant (missense variant)	GLDN-related disorder	GLikely benign
Select item 3046056	NM_181789.4(GLDN):c.688+5G>C	GLDN	Single nucleotide variant (intron variant)	GLDN-related disorder	GLikely benign
Select item 3038968	NM_181789.4(GLDN):c.785G>A (p.Arg262Gln)	GLDN (R138Q +1 more)	Single nucleotide variant (missense variant)	GLDN-related disorder	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 disorder	GLikely benign
Select item 3037767	NM_181789.4(GLDN):c.1051G>A (p.Asp351Asn)	GLDN (D227N +1 more)	Single nucleotide variant (missense variant)	GLDN-related disorder	GBenign
Select item 3037490	NM_181789.4(GLDN):c.440C>T (p.Pro147Leu)	GLDN (P147L +1 more)	Single nucleotide variant (missense variant)	GLDN-related disorder	GLikely benign
Select item 3036435	NM_181789.4(GLDN):c.363+7G>T	GLDN	Single nucleotide variant (intron variant)	GLDN-related disorder	GLikely benign
Select item 3031329	NM_181789.4(GLDN):c.1316C>T (p.Ala439Val)	GLDN (A315V +1 more)	Single nucleotide variant (missense variant)	GLDN-related disorder	GLikely benign
Select item 3029867	NM_181789.4(GLDN):c.762A>G (p.Gly254=)	GLDN	Single nucleotide variant (synonymous variant)	GLDN-related disorder	GLikely benign
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 2690612	NM_181789.4(GLDN):c.1347dup (p.Ala450fs)	GLDN (A326fs +1 more)	Duplication (frameshift variant)	Lethal congenital contracture syndrome 11	GLikely pathogenic
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2684759	GRCh37/hg19 15q21.2(chr15:51542162-52273119)x3	CYP19A1, DMXL2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
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 2630091	NM_181789.4(GLDN):c.689-2A>G	GLDN	Single nucleotide variant (splice acceptor variant)	GLDN-related disorder	GLikely pathogenic
Select item 2629056	NM_181789.4(GLDN):c.418C>T (p.Pro140Ser)	GLDN (P140S +1 more)	Single nucleotide variant (missense variant)	GLDN-related disorder	GUncertain significance
Select item 2623918	NM_181789.4(GLDN):c.1369T>C (p.Phe457Leu)	GLDN (F457L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2551107	NM_181789.4(GLDN):c.209C>A (p.Ala70Asp)	GLDN (A70D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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
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 2474797	NM_181789.4(GLDN):c.284G>A (p.Ser95Asn)	GLDN (S95N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2423936	NC_000015.9:g.(?_51687012)_(51748586_?)dup	DMXL2, GLDN	Duplication	not provided	GUncertain significance
Select item 2423931	NC_000015.9:g.(?_50731271)_(54025330_?)dup	AP4E1, ARPP19 +21 more	Duplication	not provided	GUncertain significance
Select item 2423927	NC_000015.9:g.(?_50999997)_(54025330_?)del	AP4E1, ARPP19 +18 more	Deletion	Spastic paraplegia	GPathogenic
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 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 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 2354619	NM_181789.4(GLDN):c.316G>A (p.Ala106Thr)	GLDN (A106T)	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 2314538	NM_181789.4(GLDN):c.1160G>A (p.Gly387Asp)	GLDN (G387D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2289447	NM_181789.4(GLDN):c.337A>C (p.Met113Leu)	GLDN (M113L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2256070	NM_181789.4(GLDN):c.286C>G (p.His96Asp)	GLDN (H96D)	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 1879295	NM_181789.4(GLDN):c.390C>T (p.Asn130=)	GLDN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1808372	GRCh37/hg19 15q21.2(chr15:51464187-51675037)x1	CYP19A1, GLDN	Copy number loss	not provided	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1711396	GRCh37/hg19 15q21.2(chr15:51633882-51696951)x1	GLDN	Copy number loss	not provided	GPathogenic
Select item 1711382	NM_181789.4(GLDN):c.1494G>C (p.Leu498Phe)	GLDN (L374F +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
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 1294835	NM_181789.4(GLDN):c.363+68G>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 1289352	NM_181789.4(GLDN):c.689-43A>C	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 1287452	NC_000015.10:g.51341432G>A	GLDN	Single nucleotide variant	not provided	GBenign
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 1283669	NM_181789.4(GLDN):c.415+7T>C	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281028	NC_000015.10:g.51341320A>G	GLDN	Single nucleotide 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 1274969	NM_181789.4(GLDN):c.364-147G>C	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272774	NM_181789.4(GLDN):c.180C>T (p.Arg60=)	GLDN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1272062	NM_181789.4(GLDN):c.542-222AATA[6]	GLDN	Microsatellite (intron variant)	not provided	GBenign
Select item 1267205	NM_181789.4(GLDN):c.818-29G>T	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 1262424	NM_181789.4(GLDN):c.363+11T>G	GLDN	Single nucleotide variant (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 1245993	NM_181789.4(GLDN):c.688+72G>A	GLDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242815	NM_181789.4(GLDN):c.434-101del	GLDN	Deletion (intron variant)	not provided	GBenign
Select item 1236723	NM_181789.4(GLDN):c.1179-52T>G	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 1233448	NM_181789.4(GLDN):c.541+127C>T	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 1223296	NM_181789.4(GLDN):c.1561G>A (p.Ala521Thr)	GLDN (A397T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1223110	NM_181789.4(GLDN):c.416-132C>T	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 1182706	NM_181789.4(GLDN):c.689-121_689-120insTCCT	GLDN	Insertion (intron variant)	not provided	GBenign
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 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 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +1 more	GUncertain significance
Select item 988929	GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1	AP4E1, ARPP19 +35 more	Copy number loss	not provided	GPathogenic

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