Full data view for gene SGCE

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_003919.2 transcript reference sequence.

189 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. 1 c.-1067T>C r.(?) p.(?) Parent #1 - benign g.94286477A>G g.94657165A>G -1067A>G - SGCE_000022 variant promoter region PubMed: Grabowski - - Germline - - - - - DNA SEQ - - ? - PubMed: Grabowski - - - - - - - - - 1 Johan den Dunnen
-/. 1 c.-1067T>C r.(?) p.(?) Parent #1 - benign g.94286477A>G g.94657165A>G -1067A>G - SGCE_000022 variant promoter region PubMed: Muller - - Germline - 7/242 - - - DNA SEQ - - ? - PubMed: Muller - - - - - - - - - 7 Johan den Dunnen
-/. 1 c.-1062T>C r.(?) p.(?) Parent #1 - benign g.94286472A>G g.94657160A>G -1062A>G - SGCE_000021 variant promoter region PubMed: Grabowski - - Germline - - - - - DNA SEQ - - ? - PubMed: Grabowski - - - - - - - - - 1 Johan den Dunnen
-/. 1 c.-911G>C r.(?) p.(?) Parent #1 - benign g.94286321C>G g.94657009C>G 911C/G - SGCE_000025 variant promoter region PubMed: Grabowski - - Germline - - - - - DNA SEQ - - ? - PubMed: Grabowski - - - - - - - - - 1 Johan den Dunnen
+/. _1_11_ c.(?_-1)_(*1_?)del r.0 p.0 Parent #1 - pathogenic (paternal) g.(?_94214810)_(94285411_?)del - - - SGCE_000026 deletion 9-15 Mb PubMed: DeBerardinis - - Germline - - - - - DNA PCR - - DYT - PubMed: DeBerardinis - M - - white - - - - 1 Johan den Dunnen
-/. 3i c.390+39GT(13_18) r.(=) p.(=) Parent #1 - benign g.? - - - SGCE_000017 - PubMed: McNally - - Germline - - - - - DNA SEQ - - ? - PubMed: McNally - - - - - - - - - 1 Johan den Dunnen
?/. - c.2T>C r.(?) p.(Met1?) Unknown - VUS g.94285409A>G - SGCE(NM_001099401.2):c.2T>C (p.M1?) - PEG10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.16T>G r.(?) p.(Trp6Gly) Maternal (confirmed) - VUS g.94285395A>C g.94656083A>C - - SGCE_000074 - PubMed: Cavdarli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel NMD U10 PubMed: Cavdarli 2023 analysis 146 neuromuscular disease patients, unsolved M - Turkey - - - - - 1 Johan den Dunnen
?/. - c.16T>G r.(?) p.(Trp6Gly) Maternal (confirmed) - VUS g.94285395A>C g.94656083A>C - - SGCE_000074 - PubMed: Cavdarli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 47-gene panel MD U10 PubMed: Cavdarli 2023 analysis 67 patients muscular dystrophy/myopathy (not DMD) M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.21G>A r.(?) p.(Trp7*) Paternal (confirmed) - pathogenic (paternal) g.94285390C>T g.94656078C>T - - SGCE_000082 - PubMed: Yakoreva 2019, Journal: Yakoreva 2019 - - Germline - - - - - DNA SEQ-NG-I blood TruSight One panel (4813 genes) DYT11 - PubMed: Yakoreva 2019, Journal: Yakoreva 2019 - M - Estonia - - - - - 1 Sander Pajusalu
?/. - c.25C>A r.(?) p.(Leu9Met) Unknown - VUS g.94285386G>T - SGCE(NM_001099401.2):c.25C>A (p.L9M) - PEG10_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.54G>A r.(?) p.(=) Parent #1 - benign g.94285357C>T g.94656045C>T - - SGCE_000052 - PubMed: Valente 2005 - - Germline - 9/384 - - - DNA DHPLC - - ? - PubMed: Valente 2005 - - - - - - - - - 9 Johan den Dunnen
-?/. - c.59G>A r.(?) p.(Arg20Gln) Unknown - likely benign g.94285352C>T - SGCE(NM_003919.2):c.59G>A (p.(Arg20Gln)) - PEG10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.77del r.(?) p.(Ser26Thrfs*10) Unknown - likely pathogenic g.94285334del - SGCE(NM_001346713.1):c.77delG (p.S26Tfs*10) - PEG10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.104T>A r.(?) p.(Leu35Gln) Unknown - VUS g.94285307A>T - SGCE(NM_001346713.2):c.104T>A (p.L35Q) - PEG10_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.109+1G>T r.spl p.? Paternal (inferred) - pathogenic (paternal) g.94285301C>A g.94655989C>A - - SGCE_000063 - PubMed: Wada 2015, Journal: Wada 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - - DYT11 25868953-FamPatIII2 PubMed: Wada 2015, Journal: Wada 2015 3-generation family, affected boy, father and uncle, asymptomatic heterozygous carrier grandfather M no Japan Japanese >06y - - - 4 Jamie Zeegers
+/. 1i c.109+1G>T r.109_110insGins109+2_? p.? Paternal (confirmed) - pathogenic (paternal) g.94285301C>A g.94655989C>A - - SGCE_000063 - PubMed: Chung 2007, Journal: Chung 2007 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DYT11 17394247-Fam PubMed: Chung 2007, Journal: Chung 2007 5-generation family, 3 affected/6 probably affected (4F, 5M), paternal inheritance F;M no Korea - - - - - 9 Johan den Dunnen
+/. - c.109+2T>G r.spl? p.? Unknown - pathogenic g.94285300A>C - - - PEG10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.110-9580T>C r.(=) p.(=) Unknown - VUS g.94268733A>G g.94639421A>G SGCE(NM_001346713.1):c.137T>C (p.I46T) - SGCE_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.110-9504A>G r.(=) p.(=) Unknown - likely benign g.94268657T>C - SGCE(NM_001346719.1):c.18A>G (p.K6=) - SGCE_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1i c.110-20T>C r.(?) p.(=) Unknown - VUS g.94259173A>G g.94629861A>G - - SGCE_000057 - from website {DBsub-Emory} - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.142C>T r.(?) p.(Arg48Trp) Unknown - VUS g.94259121G>A g.94629809G>A SGCE(NM_001099401.1):c.142C>T (p.R48W) - SGCE_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.146A>G r.146a>g p.Asn49Ser Parent #1 - benign g.94259117T>C g.94629805T>C - - SGCE_000016 database comparison - - - Germline - 0.08 - - - DNA, RNA SEQ - - ? - - - - - - - - - - - 1 Johan den Dunnen
?/. - c.148G>A r.(?) p.(Val50Ile) Unknown - VUS g.94259115C>T g.94629803C>T SGCE(NM_001099401.2):c.148G>A (p.V50I) - SGCE_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.158C>G r.(?) p.(Ser53*) Unknown - pathogenic (paternal) g.94259105G>C g.94629793G>C 158C>D - SGCE_000067 - PubMed: Rocha 2016, Journal: Rocha 2016 - - Germline - - - - - DNA SEQ-NG - - DYT11 26810467-Pat2 PubMed: Rocha 2016, Journal: Rocha 2016 family, patient’s father and two paternal uncles had alcohol-responsive myoclonus M - Portugal - >20y - - - 1 Jamie Zeegers
+/. 2 c.164del r.(?) p.Gly55Valfs*31 Parent #1 - pathogenic (paternal) g.94259100del g.94629788del - - SGCE_000020 - PubMed: Hedrich 2004 - - Germline - - - - - DNA, RNA SEQ - - DYT - PubMed: Hedrich 2004 large family (5 affecteds) alcohol sensitive; 3 affecteds tested express mutant allele only, one unaffected the normal allele - - - - - - - - 5 Johan den Dunnen
+/. 2 c.179A>C r.(?) p.(His60Pro) Parent #1 - pathogenic (paternal) g.94259084T>G g.94629772T>G - - SGCE_000036 not in 100 control chromosomes PubMed: Hedrich 2004, PubMed: Gerrits 2006 - - Germline - - - - - DNA SEQ - - DYT - PubMed: Hedrich 2004, PubMed: Gerrits 2006 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.179A>G r.(?) p.(His60Arg) Parent #1 - pathogenic (paternal) g.94259084T>C g.94629772T>C - - SGCE_000019 - PubMed: Schule 2004 - - Germline - - - - - DNA DHPLC - - DYT - PubMed: Schule 2004 3 generation family (5affecteds) - - - - - - - - 5 Johan den Dunnen
?/. - c.185T>G r.(?) p.(Leu62Trp) Unknown - VUS g.94259078A>C g.94629766A>C - - SGCE_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.208del r.(?) p.(Glu70Asnfs*16) Unknown - pathogenic (paternal) g.94259059del g.94629747del 208delG - SGCE_000066 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - DJO - - - - - Germany - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+/. 2 c.208G>T r.(?) p.(Glu70*) Paternal (confirmed) - pathogenic (paternal) g.94259055C>A g.94629743C>A - - SGCE_000042 - PubMed: Tezenas 2005 - - Germline - - - - - DNA SEQ - - DYT - PubMed: Tezenas 2005 3 affecteds - - - - - - - - 3 Johan den Dunnen
+/. 2 c.221del r.(?) p.(Tyr74Serfs*12) Parent #1 - pathogenic (paternal) g.94259042del g.94629730del - - SGCE_000047 - PubMed: Tezenas 2005 - - Germline - - - - - DNA SEQ - - DYT - PubMed: Tezenas 2005 - F - - - - - - - 1 Johan den Dunnen
?/. 2 c.232G>T r.(spl?) p.(?) Parent #1 - VUS g.94259031C>A g.94629719C>A - - SGCE_000034 - Subm. Marechal - - Germline - - - - - DNA SEQ - - DYT - Subm. Marechal - - - - - - - - - 1 Johan den Dunnen
+/. 2i c.232+1G>A r.spl? p.(?) Parent #1 - pathogenic (paternal) g.94259030C>T g.94629718C>T - - SGCE_000032 - Subm. Marechal - - Germline - - - - - DNA SEQ - - DYT - Subm. Marechal - - - - - - - - - 1 Johan den Dunnen
+/. 2i c.232+1G>A r.spl? p.(?) Paternal (confirmed) - pathogenic (paternal) g.94259030C>T g.94629718C>T - - SGCE_000032 - PubMed: Tezenas 2005 - - Germline - - - - - DNA SEQ - - DYT - PubMed: Tezenas 2005 - M - - - - - - - 1 Johan den Dunnen
+/. - c.232+1G>A r.spl? p.? Unknown - pathogenic g.94259030C>T - SGCE(NM_001346719.2):c.145+1G>A - SGCE_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.232+2T>C r.110_232del p.Val37_Pro77del Paternal (confirmed) - pathogenic (paternal) g.94259029A>G g.94629717A>G - - SGCE_000039 RNA fibroblast PubMed: Tezenas 2005 - - Germline - - - - - DNA, RNA SEQ - - DYT - PubMed: Tezenas 2005 5 affecteds - - - - - - - - 5 Johan den Dunnen
+/. - c.232+2T>C r.spl? p.? Unknown - pathogenic g.94259029A>G g.94629717A>G SGCE(NM_003919.3):c.232+2T>C - SGCE_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.232+4T>C r.spl? p.? Unknown - likely benign g.94259027A>G g.94629715A>G SGCE(NM_001099401.2):c.232+4T>C - SGCE_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.233-1G>A r.spl p.? Paternal (confirmed) - pathogenic (paternal) g.94257672C>T g.94628360C>T - - SGCE_000006 - PubMed: Uruha 2014, Journal: Uruha 2014 - - Germline yes - - - - DNA SEQ-NG - - DYT11 24716024-FamPatII2 PubMed: Uruha 2014, Journal: Uruha 2014 3-generation family, 8-affecteds (5F, 3M) F no Japan Japanese >42y - - - 8 Jamie Zeegers
+/. 2i c.233-1G>A r.spl? p.(?) Parent #1 - pathogenic (paternal) g.94257672C>T g.94628360C>T - - SGCE_000006 - PubMed: Cif - - Germline - - - - - DNA SEQ - - DYT - PubMed: Cif large family (7 affecteds) - - - - - - - - 7 Johan den Dunnen
+/. 2i c.233-1G>A r.spl? p.(?) Parent #1 - pathogenic (paternal) g.94257672C>T g.94628360C>T - - SGCE_000006 - PubMed: Asmus - - Germline - - - - - DNA SEQ - - DYT - PubMed: Asmus 3 affecteds - - - - - - - - 3 Johan den Dunnen
+/. 2i c.233-1G>T r.spl? p.(?) Paternal (confirmed) - pathogenic (paternal) g.94257672C>A g.94628360C>A - - SGCE_000040 - PubMed: Tezenas 2005 - - Germline - - - - - DNA SEQ - - DYT - PubMed: Tezenas 2005 2 affecteds - - - - - - - - 2 Johan den Dunnen
+/. 3 c.242del r.(?) p.(Ser81Ilefs*5) Unknown - pathogenic (paternal) g.94257662del g.94628350del - - SGCE_000058 - from website {DBsub-Emory} - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.257C>T r.(?) p.(Thr86Ile) Unknown - VUS g.94257647G>A - - - SGCE_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.275T>C r.(?) p.(Met92Thr) Parent #1 - pathogenic (paternal) g.94257629A>G g.94628317A>G 274T>C - SGCE_000045 - PubMed: Tezenas 2005 - - Germline - - - - - DNA SEQ - - DYT - PubMed: Tezenas 2005 - F - - - - - - - 1 Johan den Dunnen
+/. 3 c.278del r.(?) p.(Gly93Valfs*39) Parent #1 - pathogenic (paternal) g.94257628del g.94628316del - - SGCE_000007 - PubMed: Asmus - - Germline - - - - - DNA SEQ - - DYT - PubMed: Asmus - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.289C>T r.(?) p.(Arg97*) Unknown - pathogenic (paternal) g.94257615G>A g.94628303G>A - - SGCE_000001 - from website {DBsub-Emory} - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.289C>T r.(?) p.(Arg97*) Paternal (confirmed) - pathogenic (paternal) g.94257615G>A g.94628303G>A - - SGCE_000001 - PubMed: Valente 2005, OMIM:var0001 - - Germline - - - - - DNA DHPLC - - DYT - PubMed: Valente 2005, OMIM:var0001 - F - - - - - - - 1 Johan den Dunnen
+/. 3 c.289C>T r.(?) p.(Arg97*) Parent #1 - pathogenic (paternal) g.94257615G>A g.94628303G>A - - SGCE_000001 - PubMed: Zimprich, OMIM:var0001 - - Germline - - - - - DNA SEQ - - DYT - PubMed: Zimprich, OMIM:var0001 3 affecteds (2 male 1 F), east Bavaria - - Germany - - - - - 3 Johan den Dunnen
+/. 3 c.289C>T r.(?) p.(Arg97*) Paternal (confirmed) - pathogenic (paternal) g.94257615G>A g.94628303G>A - - SGCE_000001 - PubMed: Valente 2005, OMIM:var0001 - - Germline - - - - - DNA DHPLC - - DYT - PubMed: Valente 2005, OMIM:var0001 - F - - - - - - - 1 Johan den Dunnen
+/. - c.289C>T r.(?) p.(Arg97Ter) Unknown - pathogenic g.94257615G>A g.94628303G>A SGCE(NM_001346719.2):c.202C>T (p.R68*) - SGCE_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.289C>T r.(?) p.(Arg97*) Unknown ACMG pathogenic (paternal) g.94257615G>A g.94628303G>A - - SGCE_000001 ACMG: PVS1,PM2,PP1; Zimprich et al. 2001. Nat Genet 29: 66; O'Riordan et al. 2004. Mov Disord 19: 1456 - - rs121908489 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. - c.289C>T r.(?) p.(Arg97Ter) Unknown - pathogenic g.94257615G>A g.94628303G>A - - SGCE_000001 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
-?/. - c.290G>A r.(?) p.(Arg97Gln) Unknown - likely benign g.94257614C>T g.94628302C>T SGCE(NM_001099400.1):c.290G>A (p.(Arg97Gln)), SGCE(NM_003919.3):c.290G>A (p.R97Q) - SGCE_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.290G>A r.(?) p.(Arg97Gln) Unknown - VUS g.94257614C>T - SGCE(NM_001099400.1):c.290G>A (p.(Arg97Gln)), SGCE(NM_003919.3):c.290G>A (p.R97Q) - SGCE_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.300G>A r.(?) p.(Trp100*) Parent #1 - pathogenic (paternal) g.94257604C>T g.94628292C>T - - SGCE_000033 - PubMed: Tezenas 2005 - - Germline - - - - - DNA SEQ - - DYT - PubMed: Tezenas 2005 - F - - - - - - - 1 Johan den Dunnen
+/. 3 c.300G>A r.(?) p.(Trp100*) Paternal (confirmed) - pathogenic (paternal) g.94257604C>T g.94628292C>T - - SGCE_000033 - PubMed: Tezenas 2005, {DB: Marechal} - - Germline - - - - - DNA SEQ - - DYT - PubMed: Tezenas 2005, {DB: Marechal} 2 affecteds - - - - - - - - 2 Johan den Dunnen
+/. 3 c.300G>A r.(?) p.(Trp100*) Parent #1 - pathogenic (paternal) g.94257604C>T g.94628292C>T - - SGCE_000033 - PubMed: Tezenas 2005 - - Germline - - - - - DNA SEQ - - DYT - PubMed: Tezenas 2005 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.301C>T r.(?) p.(Leu101Phe) Unknown - likely pathogenic g.94257603G>A g.94628291G>A - - SGCE_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.304C>T r.(?) p.(Arg102*) Parent #1 - pathogenic (paternal) g.94257600G>A g.94628288G>A - - SGCE_000002 - PubMed: Han, OMIM:var0002 - - Germline - - - - - DNA SEQ - - DYT - PubMed: Han, OMIM:var0002 2 affecteds - - - - - - - - 2 Johan den Dunnen
+/. 3 c.304C>T r.(?) p.(Arg102*) Parent #1 - pathogenic (paternal) g.94257600G>A g.94628288G>A - - SGCE_000002 - PubMed: Zimprich, OMIM:var0002 - - Germline - - - - - DNA SEQ - - DYT - PubMed: Zimprich, OMIM:var0002 large family 7 affecteds (4 male 3 F), north Bavaria - - Germany - - - - - 7 Johan den Dunnen
+/. 3 c.304C>T r.(?) p.(Arg102*) Parent #1 - pathogenic (paternal) g.94257600G>A g.94628288G>A - - SGCE_000002 - PubMed: Hedrich 2004 - - Germline - - - - - DNA SEQ - - DYT - PubMed: Hedrich 2004 unaffected carrier fathter F - - - - - - - 1 Johan den Dunnen
+/. 3 c.304C>T r.(?) p.(Arg102*) Parent #1 - pathogenic (paternal) g.94257600G>A g.94628288G>A - - SGCE_000002 - PubMed: Zimprich, OMIM:var0002 - - Germline - - - - - DNA SEQ - - DYT - PubMed: Zimprich, OMIM:var0002 large family 8 affecteds (3 male 5 F), Prussia - - Germany - - - - - 8 Johan den Dunnen
+/. 3 c.304C>T r.(?) p.(Arg102*) Parent #1 - pathogenic (paternal) g.94257600G>A g.94628288G>A - - SGCE_000002 - PubMed: Han, OMIM:var0002 - - Germline - - - - - DNA SEQ - - DYT - PubMed: Han, OMIM:var0002 13 affecteds - - - - - - - - 13 Johan den Dunnen
+/. 3 c.304C>T r.(?) p.(Arg102*) Parent #1 - pathogenic (paternal) g.94257600G>A g.94628288G>A - - SGCE_000002 - PubMed: Asmus - - Germline - - - - - DNA SEQ - - DYT - PubMed: Asmus 3 affecteds - - - - - - - - 3 Johan den Dunnen
+/. 3 c.304C>T r.(?) p.(Arg102*) Parent #1 - pathogenic (paternal) g.94257600G>A g.94628288G>A - - SGCE_000002 - PubMed: Asmus - - Germline - - - - - DNA SEQ - - DYT - PubMed: Asmus 3 affecteds - - - - - - - - 3 Johan den Dunnen
+/. 3 c.304C>T r.(?) p.(Arg102*) Parent #1 - pathogenic (paternal) g.94257600G>A g.94628288G>A - - SGCE_000002 - PubMed: Asmus - - Germline - - - - - DNA SEQ - - DYT - PubMed: Asmus 5 affecteds - - - - - - - - 5 Johan den Dunnen
+/. 3 c.304C>T r.(?) p.(Arg102*) Parent #1 - pathogenic (paternal) g.94257600G>A g.94628288G>A - - SGCE_000002 - PubMed: Hedrich 2004, PubMed: Gerrits 2006 - - Germline - - - - - DNA SEQ - - DYT - PubMed: Hedrich 2004, PubMed: Gerrits 2006 affected sister M - - - - - - - 1 Johan den Dunnen
+/. - c.304C>T r.(?) p.(Arg102Ter) Unknown - pathogenic g.94257600G>A g.94628288G>A SGCE(NM_001346719.2):c.217C>T (p.R73*), SGCE(NM_003919.3):c.304C>T (p.R102*) - SGCE_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.304C>T r.(?) p.(Arg102*) Parent #1 - pathogenic (paternal) g.94257600G>A g.94628288G>A - - SGCE_000002 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908490 Germline - 1/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.304C>T r.(?) p.(Arg102*) Unknown ACMG pathogenic (paternal) g.94257600G>A g.94628288G>A - - SGCE_000002 ACMG: PVS1,PM2,PP1,PP5; Zimprich et al. 2001. Nature Genetics 29: 66 - - rs121908490 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. - c.304C>T r.(?) p.(Arg102Ter) Unknown - pathogenic g.94257600G>A - SGCE(NM_001346719.2):c.217C>T (p.R73*), SGCE(NM_003919.3):c.304C>T (p.R102*) - SGCE_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.304C>T r.(?) p.(Arg102Ter) Unknown - pathogenic g.94257600G>A - SGCE(NM_001346719.2):c.217C>T (p.R73*), SGCE(NM_003919.3):c.304C>T (p.R102*) - SGCE_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.305G>A r.(?) p.(Arg102Gln) Paternal (confirmed) - likely benign g.94257599C>T g.94628287C>T - - SGCE_000061 - PubMed: Tedroff 2011, Journal: Tedroff 2011 - - Germline no - - - - DNA PCR, SEQ-NG - - DYT11 22026499-FamPatII3 PubMed: Tedroff 2011, Journal: Tedroff 2011 - M - Sweden - - - - - 1 Jamie Zeegers
-?/. 3 c.305G>A r.(?) p.(Arg102Gln) Maternal (confirmed) - likely benign g.94257599C>T g.94628287C>T - - SGCE_000061 - PubMed: Tedroff 2011, Journal: Tedroff 2011 - - Germline no - - - - DNA PCR, SEQ-NG - - DYT11 22026499-FamPatIII2 PubMed: Tedroff 2011, Journal: Tedroff 2011 2-generation family, 3 affecteds, unaffected heterozygous carrier parents F no Sweden - >08y - - - 3 Jamie Zeegers
+/. 3 c.344A>G r.(?) p.(Tyr115Cys) Paternal (confirmed) - pathogenic (paternal) g.94257560T>C g.94628248T>C - - SGCE_000044 - PubMed: Tezenas 2005 - - Germline - - - - - DNA SEQ - - DYT - PubMed: Tezenas 2005 5 affecteds - - - - - - - - 5 Johan den Dunnen
+/. 3 c.372del r.(?) p.(Lys125Serfs*7) Paternal (confirmed) - pathogenic (paternal) g.94257535del g.94628223del - - SGCE_000064 - PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014 - - Germline yes - - - - DNA PCR, SEQ-NG - - DYT11 24297365-FamPatIII3 PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014 3-generation family, 7 affecteds (2F, 4M, fetus), 4 unaffected heterozygous carriers (inherited maternally) F no Norway Norwegian - - - - 11 Jamie Zeegers
+/. 3 c.372del r.(?) p.(Lys125Serfs*7) Paternal (confirmed) - pathogenic (paternal) g.94257535del g.94628223del - - SGCE_000064 - PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014 - - Germline yes - - - - DNA PCR, SEQ-NG - - DYT11 24297365-FamPatIII5 PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014 - M no Norway Norwegian - - - - 1 Jamie Zeegers
+/. 3 c.372del r.(?) p.(Lys125Serfs*7) Paternal (confirmed) - pathogenic (paternal) g.94257535del g.94628223del - - SGCE_000064 - PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014 - - Germline yes - - - - DNA PCR, SEQ-NG - - DYT11 24297365-FamPatIII8 PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014 - M - Norway Norwegian - - - - 1 Jamie Zeegers
+/. 3 c.372del r.(?) p.(Lys125Serfs*7) Paternal (confirmed) - pathogenic (paternal) g.94257535del g.94628223del - - SGCE_000064 - PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014 - - Germline yes - - - - DNA PCR, SEQ-NG - - DYT11 24297365-FamPatIII9 PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014 - M no Norway Norwegian - - - - 1 Jamie Zeegers
+/. 3 c.372del r.(?) p.(Lys125Serfs*7) Paternal (confirmed) - pathogenic (paternal) g.94257535del g.94628223del - - SGCE_000064 - PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014 - - Germline yes - - - - DNA PCR, SEQ-NG - - DYT11 24297365-FamPatIII10 PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014 - F no Norway Norwegian - - - - 1 Jamie Zeegers
+/. 3 c.372del r.(?) p.(Lys125Serfs*7) Paternal (confirmed) - pathogenic (paternal) g.94257535del g.94628223del - - SGCE_000064 - PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014 - - Germline yes - - - - DNA PCR, SEQ-NG - - DYT11 24297365-FamPatIII11 PubMed: Haugarvoll 2014, Journal: Haugarvoll 2014 - M - Norway Norwegian - - - - 1 Jamie Zeegers
+/. 3 c.386T>C r.(?) p.(Ile129Thr) Paternal (confirmed) - pathogenic (paternal) g.94257518A>G g.94628206A>G - - SGCE_000060 - PubMed: Tedroff 2011, Journal: Tedroff 2011 - - Germline yes - - - - DNA PCR, SEQ-NG - - DYT11 22026499-FamPatIII2 PubMed: Tedroff 2011, Journal: Tedroff 2011 2-generation family, 3 affecteds, unaffected heterozygous carrier parents F no Sweden - >08y - - - 3 Jamie Zeegers
+/. 3 c.386T>C r.(?) p.(Ile129Thr) Maternal (confirmed) - pathogenic (paternal) g.94257518A>G g.94628206A>G - - SGCE_000060 - PubMed: Tedroff 2011, Journal: Tedroff 2011 - - Germline yes - - - - DNA PCR, SEQ-NG - - DYT11 22026499-FamPatII3 PubMed: Tedroff 2011, Journal: Tedroff 2011 - M - Sweden - - - - - 1 Jamie Zeegers
+/. 3 c.386T>C r.(?) p.(Ile129Thr) Parent #1 - pathogenic (paternal) g.94257518A>G g.94628206A>G - - SGCE_000060 - PubMed: Tedroff 2011, Journal: Tedroff 2011 - - Germline yes - - - - DNA PCR, SEQ-NG - - DYT11 22026499-FamPatI2 PubMed: Tedroff 2011, Journal: Tedroff 2011 - F no Sweden - >50y - - - 1 Jamie Zeegers
-?/. 3i c.390+15G>A r.(?) p.(=) Paternal (confirmed) - likely benign g.94257499C>T g.94628187C>T IVS3+15G>A - SGCE_000062 - PubMed: Tedroff 2011, Journal: Tedroff 2011 - - Germline no - - - - DNA PCR, SEQ-NG - - DYT11 22026499-FamPatII3 PubMed: Tedroff 2011, Journal: Tedroff 2011 - M - Sweden - - - - - 1 Jamie Zeegers
-?/. 3i c.390+15G>A r.(?) p.(=) Maternal (confirmed) - likely benign g.94257499C>T g.94628187C>T IVS3+15G>A - SGCE_000062 - PubMed: Tedroff 2011, Journal: Tedroff 2011 - - Germline no - - - - DNA PCR, SEQ-NG - - DYT11 22026499-FamPatIII2 PubMed: Tedroff 2011, Journal: Tedroff 2011 2-generation family, 3 affecteds, unaffected heterozygous carrier parents F no Sweden - >08y - - - 3 Jamie Zeegers
+/. 3i c.391-82_405del r.(?) p.(?) Parent #1 - pathogenic (paternal) g.94252695_94252791del g.94623383_94623479del 391-82_405del97 - SGCE_000004 - PubMed: Zimprich, OMIM:var0004 - - Germline - - - - - DNA SEQ - - DYT - PubMed: Zimprich, OMIM:var0004 4 affecteds (2 male 2 F) - - Germany - - - - - 4 Johan den Dunnen
-/. 3i c.391-79G>T r.(?) p.(=) Parent #1 - benign g.94252788C>A g.94623476C>A 391-78G>T - SGCE_000054 - PubMed: Valente 2005 - - Germline - 9/384 - - - DNA DHPLC - - ? - PubMed: Valente 2005 - - - - - - - - - 9 Johan den Dunnen
-/. 3i c.391-43A>C r.(?) p.(=) Unknown - benign g.94252752T>G g.94623440T>G - - SGCE_000027 - from website {DBsub-Emory} - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. 3i c.391-43A>C r.(spl?) p.(?) Parent #1 - VUS g.94252752T>G g.94623440T>G - - SGCE_000027 - PubMed: Kock - - Germline - - - - - DNA SEQ - - ? - PubMed: Kock identified in MDS patient (no pathogenic change identified) - - - - - - - - 1 Johan den Dunnen
-/. 3i c.391-42A>C r.(?) p.(=) Parent #1 - benign g.94252751T>G g.94623439T>G - - SGCE_000053 - PubMed: Valente 2005 - - Germline - 65/384 - - - DNA DHPLC - - ? - PubMed: Valente 2005 - - - - - - - - - 65 Johan den Dunnen
-/. 3i c.391-3T>C r.(?) p.(=) Unknown - benign g.94252712A>G g.94623400A>G - - SGCE_000050 - from website {DBsub-Emory} - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. 3i c.391-3T>C r.(spl?) p.(?) Parent #1 - VUS g.94252712A>G g.94623400A>G - - SGCE_000050 not in 384 control chromosomes PubMed: Valente 2005 - - Germline - - - - - DNA DHPLC - - ? - PubMed: Valente 2005 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.391-3T>C r.spl? p.? Unknown - likely benign g.94252712A>G g.94623400A>G SGCE(NM_001099400.1):c.391-3T>C (p.?), SGCE(NM_003919.3):c.391-3T>C - SGCE_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.391-3T>C r.spl? p.? Unknown - likely benign g.94252712A>G - SGCE(NM_001099400.1):c.391-3T>C (p.?), SGCE(NM_003919.3):c.391-3T>C - SGCE_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3i c.391-1G>C r.spl p.? Unknown - likely pathogenic (paternal) g.94252710C>G g.94623398C>G - - SGCE_000081 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - - - F - (Germany) - - - - - 1 IMGAG
?/. - c.391A>G r.(?) p.(Ile131Val) Unknown - VUS g.94252709T>C g.94623397T>C SGCE(NM_001099400.1):c.391A>G (p.(Ile131Val)), SGCE(NM_001099401.1):c.391A>G (p.I131V), SGCE(NM_003919.3):c.391A>G (p.I131V) - SGCE_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.391A>G r.(?) p.(Ile131Val) Unknown - VUS g.94252709T>C g.94623397T>C SGCE(NM_001099400.1):c.391A>G (p.(Ile131Val)), SGCE(NM_001099401.1):c.391A>G (p.I131V), SGCE(NM_003919.3):c.391A>G (p.I131V) - SGCE_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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