Full data view for gene BSCL2

BSCL2-seipinopathies variation databases - curated by the neurogenetics and metabolic-thyroid disease groups, Instituto de Investigaciones Sanitarias de Santiago de Compostela (IDIS-SERGAS), Spain.
This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_001122955.3 transcript reference sequence.

349 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

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     
?/. - c.-17108C>G r.(?) p.(=) - - - Unknown - VUS g.62491775G>C g.62724303G>C HNRNPUL2(NM_001079559.2):c.662C>G (p.A221G) - GNG3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-15669G>A r.(?) p.(=) - - - Unknown - likely benign g.62490336C>T - HNRNPUL2(NM_001079559.2):c.931G>A (p.(Val311Ile)) - GNG3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.-51C>G r.(?) p.(=) - 0.000 - Parent #1 - VUS g.62474718G>C g.62707246G>C - - BSCL2_000026 not in 356 control chromosomes - - rs181391402 Unknown ? 1000G=0.05 - 0 - DNA SEQ - - SPG17 - - - - - Spain - - 0 - - 1 María-Jesús Sobrido
-?/? 1 c.60C>G r.(?) p.(Asp20Glu) benign 0.002 Tolerated (1.00) Unknown - likely benign g.62474608G>C g.62707136G>C - - BSCL2_000025 1 in 356 control chromosomes - - rs115116507 Germline - 1000G=3.00;EVS=3.99 - 0 - DNA SEQ - - Healthy/Control - - - - - Spain - - - - - 1 María-Jesús Sobrido
?/? 1 c.60C>G r.(?) p.(Asp20Glu) benign 0.002 Tolerated (1.00) Parent #1 - VUS g.62474608G>C g.62707136G>C - - BSCL2_000025 1 in 356 control chromosomes - - rs115116507 Germline no 1000G=3.00;EVS=3.99 - 0 - DNA SEQ - - ? - - - - - Spain - - - - - 1 María-Jesús Sobrido
?/? 1 c.60C>G r.(?) p.(Asp20Glu) benign 0.002 Tolerated (1.00) Parent #1 - VUS g.62474608G>C g.62707136G>C - - BSCL2_000025 1 in 356 control chromosomes - - rs115116507 Germline yes 1000G=3.00;EVS=3.99 - 0 - DNA SEQ - - SPG17 - - - - - Spain - - - - - 1 María-Jesús Sobrido
?/? 1 c.60C>G r.(?) p.(Asp20Glu) benign 0.002 Tolerated (1.00) Parent #1 - VUS g.62474608G>C g.62707136G>C - - BSCL2_000025 1 in 356 control chromosomes - - rs115116507 Germline - 1000G=3.00;EVS=3.99 - 0 - DNA SEQ - - HMN5A - - - - - Spain - - - - - 1 María-Jesús Sobrido
?/? 1 c.60C>G r.(?) p.(Asp20Glu) - 0.000 - Unknown - VUS g.62474608G>C g.62707136G>C - - BSCL2_000025 - - - - Unknown - - - 0 - DNA SEQ-NG - - ? - - - - - Spain - - 0 - - 1 Sergio Piñeiro
-/. - c.60C>G r.(?) p.(Asp20Glu) - - - Unknown - benign g.62474608G>C g.62707136G>C BSCL2(NM_001122955.3):c.60C>G (p.D20E, p.(Asp20Glu)) - BSCL2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.60C>G r.(?) p.(Asp20Glu) - - - Unknown - likely benign g.62474608G>C - BSCL2(NM_001122955.3):c.60C>G (p.D20E, p.(Asp20Glu)) - BSCL2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.62A>T r.(?) p.(Gln21Leu) - - - Both (homozygous) - pathogenic (recessive) g.62474606T>A g.62707134T>A - - BSCL2_000078 - PubMed: Akinci 2016 - - Germline - - - 0 - DNA SEQ - - CGL Fam16Pat1 PubMed: Akinci 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - 0 - see paper 2 Johan den Dunnen
+/. - c.62A>T r.(?) p.(Gln21Leu) - - - Both (homozygous) - pathogenic (recessive) g.62474606T>A g.62707134T>A - - BSCL2_000078 - PubMed: Akinci 2016 - - Germline - - - 0 - DNA SEQ - - CGL Fam16Pat2 PubMed: Akinci 2016 - F - Turkey - - 0 - see paper 1 Johan den Dunnen
-?/. - c.88-662C>A r.(=) p.(=) - - - Parent #1 - likely benign g.62473751G>T g.62706279G>T - - BSCL2_000079 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117597269 Germline - 3/2767 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
?/? 1i c.88-62C>G r.(=) p.(=) - 0.000 - Parent #1 - VUS g.62473151G>C g.62705679G>C - - BSCL2_000027 not in 314 control chromosomes - - - Germline - - - 0 - DNA SEQ - - SPG17 - - - - - Spain - - 0 - - 1 María-Jesús Sobrido
?/. - c.100G>A r.(?) p.(Ala34Thr) - - - Unknown - VUS g.62473077C>T g.62705605C>T BSCL2(NM_001122955.3):c.100G>A (p.A34T) - GNG3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.124C>T r.(?) p.(Arg42Cys) possiblyDamaging 0.736 Deleterious(0.00) Unknown - VUS g.62473053G>A g.62705581G>A - - BSCL2_000028 1 in 348 control chromosomes - - rs201493373 Germline no EVS=0.07 - 0 - DNA SEQ - - CMT2 - - 1 affected - - Spain - - 0 - - 1 María-Jesús Sobrido
-?/. - c.124C>T r.(?) p.(Arg42Cys) - - - Unknown - likely benign g.62473053G>A g.62705581G>A BSCL2(NM_001122955.3):c.124C>T (p.R42C) - BSCL2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.124C>T r.(?) p.(Arg42Cys) - - - Unknown ACMG VUS g.62473053G>A g.62705581G>A - - BSCL2_000028 ACMG: PP2-BS1 PubMed: Ferese 2021 SCV001148309.4 rs201493373 Unknown - - - 0 - DNA SEQ-NG-I - - HMN5A 1261 PubMed: Ferese 2021 2-generation family, 1 affected, 3 unavailable for testing M - Italy - >48y - - - 1 Yvet den Hartog
-?/. - c.124C>T r.(?) p.(Arg42Cys) - - - Unknown - likely benign g.62473053G>A - BSCL2(NM_001122955.3):c.124C>T (p.R42C) - BSCL2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.131G>A r.(?) p.(Gly44Asp) - - - Unknown - likely benign g.62473046C>T - BSCL2(NM_001122955.3):c.131G>A (p.G44D) - GNG3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.133G>A r.(?) p.(Gly45Ser) - - - Unknown - VUS g.62473044C>T g.62705572C>T BSCL2(NM_001122955.3):c.133G>A (p.G45S) - GNG3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.166G>A r.(?) p.(Gly56Arg) possiblyDamaging 0.490 Deleterious(0.00) Parent #1 - VUS g.62473011C>T g.62705539C>T - - BSCL2_000029 not in 356 control chromosomes - - - Germline - - - 0 - DNA SEQ - - SPG17 - - 1 unaffected carrier parent - - Spain - - 0 - - 1 María-Jesús Sobrido
?/. - c.184C>T r.(?) p.(Leu62Phe) - - - Unknown - VUS g.62472993G>A g.62705521G>A BSCL2(NM_001122955.3):c.184C>T (p.L62F) - GNG3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.232C>A r.(?) p.(Gln78Lys) possiblyDamaging 0.829 Tolerated (0.07) Parent #1 - VUS g.62472945G>T g.62705473G>T - - BSCL2_000031 not in 356 control chromosomes - - - Germline - - - 0 - DNA SEQ - - SPG17 - - - - - Spain - - 0 - - 1 María-Jesús Sobrido
+/. - c.280C>T r.(?) p.(Gln94*) - - - Both (homozygous) - pathogenic (recessive) g.62472897G>A g.62705425G>A - - BSCL2_000077 - PubMed: Akinci 2016 - - Germline - - - 0 - DNA SEQ - - CGL Fam14Pat1 PubMed: Akinci 2016 2-generation family, 3 affected, unaffected heterozygous carrier parents F - Turkey - - 0 - see paper 3 Johan den Dunnen
+/. - c.280C>T r.(?) p.(Gln94*) - - - Both (homozygous) - pathogenic (recessive) g.62472897G>A g.62705425G>A - - BSCL2_000077 - PubMed: Akinci 2016 - - Germline - - - 0 - DNA SEQ - - CGL Fam14Pat2 PubMed: Akinci 2016 - M - Turkey - - 0 - see paper 1 Johan den Dunnen
+/. - c.280C>T r.(?) p.(Gln94*) - - - Both (homozygous) - pathogenic (recessive) g.62472897G>A g.62705425G>A - - BSCL2_000077 - PubMed: Akinci 2016 - - Germline - - - 0 - DNA SEQ - - CGL Fam14Pat3 PubMed: Akinci 2016 - M - Turkey - - 0 - see paper 1 Johan den Dunnen
+/. - c.280C>T r.(?) p.(Gln94*) - - - Both (homozygous) - pathogenic (recessive) g.62472897G>A g.62705425G>A - - BSCL2_000077 - PubMed: Akinci 2016 - - Germline - - - 0 - DNA SEQ - - CGL Fam15Pat1 PubMed: Akinci 2016 - F - Turkey - - 0 - see paper 1 Johan den Dunnen
+/? 2 c.346_347dup r.(?) p.(Tyr117SerfsTer40) - 0.000 - Parent #1 - pathogenic g.62472830_62472831dup g.62705358_62705359dup 500insTT (F53fsX93 ) - BSCL2_000001 - PubMed: Agarwal 2003 - - Germline yes - - 0 - DNA SEQ - - CGL2 - PubMed: Agarwal 2003 4generation family, affected sister F yes Pakistan Pakistani - 0 - - 1 María-Jesús Sobrido
+/? 2 c.346_347dup r.(?) p.(Tyr117SerfsTer40) - 0.000 - Parent #2 - pathogenic g.62472830_62472831dup g.62705358_62705359dup 500insTT (F53fsX93 ) - BSCL2_000001 - PubMed: Agarwal 2003 - - Germline yes - - 0 - DNA SEQ - - CGL2 - PubMed: Agarwal 2003 4generation family, affected sister F yes Pakistan Pakistani - 0 - - 1 María-Jesús Sobrido
+/? 2 c.346_347dup r.(?) p.(Tyr117SerfsTer40) - 0.000 - Parent #1 - pathogenic g.62472830_62472831dup g.62705358_62705359dup 500insTT (F53fsX93 ) - BSCL2_000001 - PubMed: Agarwal 2003 - - Germline yes - - 0 - DNA SEQ - - CGL2 - PubMed: Agarwal 2003 4generation family, affected sister F yes Pakistan Pakistani - 0 - - 1 María-Jesús Sobrido
+/? 2 c.346_347dup r.(?) p.(Tyr117SerfsTer40) - 0.000 - Parent #2 - pathogenic g.62472830_62472831dup g.62705358_62705359dup 500insTT (F53fsX93 ) - BSCL2_000001 - PubMed: Agarwal 2003 - - Germline yes - - 0 - DNA SEQ - - CGL2 - PubMed: Agarwal 2003 4generation family, affected sister F yes Pakistan Pakistani - 0 - - 1 María-Jesús Sobrido
+/? 2 c.346_347dup r.(?) p.(Tyr117SerfsTer40) - 0.000 - Parent #1 - pathogenic g.62472830_62472831dup g.62705358_62705359dup 500insTT (F53fsX93 ) - BSCL2_000001 - PubMed: Agarwal 2003 - - Germline yes - - 0 - DNA SEQ - - Healthy/Control - PubMed: Agarwal 2003 4generation family, 4 unaffected carriers - yes Pakistan Pakistani - 0 - - 4 María-Jesús Sobrido
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - - - Parent #1 - pathogenic g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75) - BSCL2_000044 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 6generation family, 1 affected M yes Norway - - 0 - - 1 María-Jesús Sobrido
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - - - Parent #1 - pathogenic g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75) - BSCL2_000044 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - Healthy/Control - PubMed: Magre 2001 6generation family, 3 unaffected carriers - yes Norway - - - - - 3 María-Jesús Sobrido
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - - - Parent #1 - pathogenic g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75) - BSCL2_000044 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 3generation family, 1 affected M no Norway - - 0 - - 1 María-Jesús Sobrido
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - - - Parent #2 - pathogenic g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75) - BSCL2_000044 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 3generation family, 1 affected M no Norway - - 0 - - 1 María-Jesús Sobrido
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - 0.000 - Parent #1 - pathogenic g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75) - BSCL2_000044 - PubMed: Magre 2001 - - Germline yes - - 0 - DNA SEQ - - Healthy/Control - PubMed: Magre 2001 3generation family, 3 unaffected carriers - no Norway - - - - - 3 María-Jesús Sobrido
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - 0.000 - Parent #1 - pathogenic g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75) - BSCL2_000044 - PubMed: Magre 2001 - - Germline ? - - 0 - DNA SEQ - - CGL2 - PubMed: Magre 2001 6generation family, 1 affected M yes Italy - - 0 - - 1 María-Jesús Sobrido
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - 0.000 - Parent #2 - pathogenic g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75) - BSCL2_000044 - PubMed: Magre 2001 - - Germline ? - - 0 - DNA SEQ - - CGL2 - PubMed: Magre 2001 6generation family, 1 affected M yes Italy - - 0 - - 1 María-Jesús Sobrido
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - 0.000 - Parent #1 - pathogenic g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75) - BSCL2_000044 - PubMed: Magre 2001 - - Germline ? - - 0 - DNA SEQ - - Healthy/Control - PubMed: Magre 2001 6generation family, 3 unaffected carriers - yes Italy - - - - - 3 María-Jesús Sobrido
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - - - Parent #1 - pathogenic g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75) - BSCL2_000044 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Magre 2001 2generation family, 2 affecteds - no United Kingdom (Great Britain) - - - - - 2 María-Jesús Sobrido
+/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - - - Parent #1 - pathogenic g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC 536delCCinsGGA (F63fsX75) - BSCL2_000044 - PubMed: Magre 2001 - - Germline yes - - - - DNA SEQ - - Healthy/Control - PubMed: Magre 2001 2generation family, 2 unaffected carrier parents - no United Kingdom (Great Britain) - - - - - 2 María-Jesús Sobrido
?/? 2 c.385_386delinsGGA r.(?) p.(Pro129GlyfsTer11) - 0.000 - Unknown - VUS g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC V99IfsX49 - BSCL2_000044 - PubMed: Boutet et al., Biochimie 2009 - - Unknown ? - - 0 - DNA SEQ - - CGL2 - PubMed: Boutet et al., Biochimie 2009 2 affected - ? Portugal - - - - - 2 María-Jesús Sobrido
+/? 2 c.386delinsGGA r.(?) p.(Pro129ArgfsTer28) - 0.000 - Parent #1 - pathogenic g.62472791delinsTCC g.62705319delinsTCC 537delCinsGGA (S64fsX91) - BSCL2_000004 - PubMed: Agarwal 2003 - - Germline yes - - 0 - DNA SEQ - - CGL2 - PubMed: Agarwal 2003 2generation family, affected sister F no United Kingdom (Great Britain) white - 0 - - 1 María-Jesús Sobrido
+/? 2 c.386delinsGGA r.(?) p.(Pro129ArgfsTer28) - 0.000 - Parent #1 - pathogenic g.62472791delinsTCC g.62705319delinsTCC 537delCinsGGA (S64fsX91) - BSCL2_000004 - PubMed: Agarwal 2003 - - Germline yes - - 0 - DNA SEQ - - CGL2 - PubMed: Agarwal 2003 2generation family, affected brother M no United Kingdom (Great Britain) white - 0 - - 1 María-Jesús Sobrido
+/? 2 c.386delinsGGA r.(?) p.(Pro129ArgfsTer28) - 0.000 - Parent #1 - pathogenic g.62472791delinsTCC g.62705319delinsTCC 537delCinsGGA (S64fsX91) - BSCL2_000004 - PubMed: Agarwal 2003 - - Germline yes - - 0 - DNA SEQ - - Healthy/Control - PubMed: Agarwal 2003 2generation family, unaffected carrier parents - no United Kingdom (Great Britain) white - - - - 2 María-Jesús Sobrido
+/? 2i c.405-11A>G r.404_405ins405-10_405-1 p.Arg135SerfsTer4 - 0.000 - Unknown - pathogenic g.62470032T>C g.62702560T>C IVS2-11A>G - BSCL2_000008 - PubMed: Mandal 2006 - - Unknown ? - - 0 - DNA, RNA RT-PCR, SEQ - - CGL2 - PubMed: Mandal 2006 affected twin pair ? no India - - 0 - - 2 María-Jesús Sobrido
+/? 3 c.424A>G r.(?) p.(Thr142Ala) - 0.000 - Unknown - pathogenic g.62470002T>C g.62702530T>C c.424A>G; p.T142A - BSCL2_000062 - PubMed: Miranda 2009 - - Unknown ? - - 0 - DNA SEQ - - CGL2 - - 3generation family, 2 affecteds (grandfather/child) - yes Brazil - - 0 - - 2 María-Jesús Sobrido
+/? 3 c.424A>G r.(?) p.(Thr142Ala) - 0.000 - Unknown - pathogenic g.62470002T>C g.62702530T>C c.424A>G; p.T142A - BSCL2_000062 - PubMed: Miranda 2009 - - Unknown ? - - 0 - DNA SEQ - - CGL2 - - 2generation family, 1 affected M yes Brazil - - 0 - - 1 María-Jesús Sobrido
?/. - c.446C>T r.(?) p.(Pro149Leu) - - - Unknown - VUS g.62469980G>A g.62702508G>A - - BSCL2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - 0 - DNA SEQ - - SPG17 - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - 0 - DNA SEQ - - SPG17 - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - 0 - DNA SEQ - - SPG17 - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - 0 - DNA SEQ - - SPG17 - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - 0 - DNA SEQ - - SPG17 - PubMed: Windpassinger 2004 - - - United Kingdom (Great Britain) - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - 0 - DNA SEQ - - HMN5A - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - 0 - DNA SEQ - - HMN5A - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - 0 - DNA SEQ - - HMN5A - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - 0 - DNA SEQ - - HMN5A - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - 0 - DNA SEQ - - HMN5A - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - 0 - DNA SEQ - - HMN5A - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - 0 - DNA SEQ - - HMN5A - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - 0 - DNA SEQ - - HMN5A - PubMed: Windpassinger 2004 - - - Austria - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852972 Germline yes - - 0 - DNA SEQ - - HMN5A - PubMed: Windpassinger 2004 - - - Italy - - - - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: van de Warrenburg 2006 - rs137852972 Germline yes - - 0 - DNA SEQ - - SPG17 - PubMed: van de Warrenburg 2006 3generation family, 5 affecteds - no Netherlands - - - - - 5 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: van de Warrenburg 2006 - rs137852972 Germline yes - - 0 - DNA SEQ - - SPG17 - PubMed: van de Warrenburg 2006 4generation family, 7 affecteds - no Netherlands - - 0 - - 7 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Unknown - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Bienfait 2007 - rs137852972 Unknown ? - - 0 - DNA SEQ - - SPG17 - PubMed: Bienfait 2007 1 affected ? ? Netherlands - - 0 - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Rohkamm 2007 - rs137852972 Germline yes - - 0 - DNA SEQ - - HMN5A - PubMed: Rohkamm 2007 - - ? Austria - - 0 - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Rohkamm 2007 - rs137852972 Germline yes - - 0 - DNA SEQ - - HMN5A - PubMed: Rohkamm 2007 - M ? Austria - - 0 - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Rohkamm 2007 - rs137852972 Germline yes - - 0 - DNA SEQ - - SPG17 - PubMed: Rohkamm 2007 - F ? United Kingdom (Great Britain) African - 0 - - 1 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (Asn88Ser) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site - - rs137852972 Germline yes - - 0 - DNA SEQ - - SPG17 - - - - - Spain - - 0 - - 5 María-Jesús Sobrido
+/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Parent #1 - pathogenic g.62469971T>C g.62702499T>C 263A>G (Asn88Ser) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site - - rs137852972 Germline yes - - 0 - DNA SEQ - - HMN5A - - - - - Spain - - 0 - - 2 María-Jesús Sobrido
?/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Unknown - VUS g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Irobi et al., Brain 2004 - rs137852972 Germline yes - - 0 - DNA SEQ - - HMN5A - PubMed: Irobi et al., 2004 5 generation family, 12 mutationpositive reported - no Italy - - 0 - - 12 María-Jesús Sobrido
?/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Unknown - VUS g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Brusse et al., Neurogenetics 2009 - rs137852972 Germline yes - - 0 - DNA SEQ - - HMN5A - PubMed: Brusse et al., Neurogenetics 2009 4 generation family, 11 mutationpositive reported - no Netherlands - - 0 - - 11 María-Jesús Sobrido
?/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Unknown - VUS g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Cafforio et al., Neurol. Sci. 2008 - rs137852972 Germline ? - - 0 - DNA SEQ - - SPG17 - PubMed: Cafforio et al., Neurol. Sci. 2008 2 generation family, 2 mutation positive reported - ? Italy - - 0 - - 2 María-Jesús Sobrido
?/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Unknown - VUS g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Chen et al., Neuropathology 2009 - rs137852972 Germline yes - - 0 - DNA SEQ - - HMN5A - PubMed: Chen et al., Neuropathology 2009 4 generation family, 5 mutation positive reported - ? China - - 0 - - 5 María-Jesús Sobrido
?/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Unknown - VUS g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Dierick et al., Brain 2008 - rs137852972 Germline ? - - 0 - DNA SEQ - - HMN5A - PubMed: Dierick et al., Brain 2008 - ? ? ? (unknown) - - 0 - - 1 María-Jesús Sobrido
?/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Unknown - VUS g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Dierick et al., Brain 2008 - rs137852972 Germline ? - - 0 - DNA SEQ - - HMN5A - PubMed: Dierick et al., Brain 2008 - ? ? Poland - - 0 - - 1 María-Jesús Sobrido
?/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Unknown - VUS g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Kochanski et al., Neurol. Neurochir. 2007 - rs137852972 Unknown ? - - 0 - DNA SEQ - - SPG17 - PubMed: Kochanski et al., Neurol. Neurochir. 2007 3 generation family, 1 mutation positive reported M ? Poland - - 0 - - 1 María-Jesús Sobrido
?/? 3 c.455A>G r.(?) p.(Asn152Ser) probablyDamaging 0.947 Tolerated (0.69) Unknown - VUS g.62469971T>C g.62702499T>C 263A>G (N88S) - BSCL2_000005 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Rakocevic-Stojanovic et al., J. Neurol. Sci. 2010 - rs137852972 Germline yes - - 0 - DNA SEQ - - SPG17 - PubMed: RakocevicStojanovic et al., J. Neurol. Sci. 2010 5 generation family, 3 mutation positive reported - no ? (unknown) - - 0 - - 3 María-Jesús Sobrido
+/. - c.455A>G r.(?) p.(Asn152Ser) - - - Unknown - pathogenic g.62469971T>C g.62702499T>C BSCL2(NM_032667.6):c.263A>G (p.N88S) - BSCL2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.455A>G r.(?) p.(Asn152Ser) - - - Unknown - pathogenic g.62469971T>C g.62702499T>C BSCL2(NM_032667.6):c.263A>G (p.N88S) - BSCL2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.455A>G r.(?) p.(Asn152Ser) - - - Unknown - pathogenic (dominant) g.62469971T>C g.62702499T>C NM_032667.6:c.263A>G - BSCL2_000005 - PubMed: Antoniadi 2015 - rs137852972 Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel CMT2 Pat-BSCL2-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.455A>G r.(?) p.(Asn152Ser) - - - Unknown - pathogenic (dominant) g.62469971T>C g.62702499T>C NM_032667.6:c.263A>G - BSCL2_000005 - PubMed: Antoniadi 2015 - rs137852972 Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel CMT2 Pat-BSCL2-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.455A>G r.(?) p.(Asn152Ser) - - - Paternal (confirmed) - pathogenic g.62469971T>C g.62702499T>C - - BSCL2_000005 - PubMed: Thomas 2022 - - Germline - - - 0 - DNA SEQ - clincal WES SPG Pat48 PubMed: Thomas 2022 patient, affected father and daughter - no France - - 0 - - 3 Johan den Dunnen
+/. - c.460T>C r.(?) p.(Ser154Pro) - - - Unknown - pathogenic g.62469966A>G g.62702494A>G BSCL2(NM_001122955.3):c.460T>C (p.S154P) - BSCL2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46) Parent #1 - pathogenic g.62469965G>A g.62702493G>A 269C>T (Ser90Leu) - BSCL2_000006 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852973 Germline yes - - 0 - DNA SEQ - - SPG17 - PubMed: Windpassinger 2004 - - - Belgium - - - - - 1 María-Jesús Sobrido
+/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46) Parent #1 - pathogenic g.62469965G>A g.62702493G>A 269C>T (Ser90Leu) - BSCL2_000006 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Windpassinger 2004 - rs137852973 Germline yes - - 0 - DNA SEQ - - SPG17 - PubMed: Windpassinger 2004 - - - Brazil - - - - - 1 María-Jesús Sobrido
+/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46) Parent #1 - pathogenic g.62469965G>A g.62702493G>A 269C>T (S90L) - BSCL2_000006 not in 1100 control chromosomes; affects N-glycosylation site; possible germline mosaicism of mother PubMed: Cho 2007 - rs137852973 Germline ? - - 0 - DNA SEQ - - SPG17 - PubMed: Cho 2007 3 generation family, 2 affected sisters, 1 affected son - no Korea, South (Republic) - - 0 - - 3 María-Jesús Sobrido
+/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46) Parent #1 - pathogenic g.62469965G>A g.62702493G>A 269C>T (S90L) - BSCL2_000006 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Rohkamm 2007 - rs137852973 De novo - - - 0 - DNA SEQ - - SPG17 - PubMed: Rohkamm 2007 - - - Germany - - 0 - - 1 María-Jesús Sobrido
+/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46) Parent #1 - pathogenic g.62469965G>A g.62702493G>A - - BSCL2_000006 not in 1100 control chromosomes; affects N-glycosylation site - - rs137852973 Germline yes - - 0 - DNA SEQ - - SPG17 - - - - - Spain - - 0 - - 6 María-Jesús Sobrido
?/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46) Unknown - VUS g.62469965G>A g.62702493G>A 269C>T (p.S90L) - BSCL2_000006 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Irobi et al., Brain 2004 - rs137852973 Germline ? - - 0 - DNA SEQ - - SPG17 - PubMed: Irobi et al., Brain 2004 5 generation family, 17 mutationpositive reported - no Belgium - - - - - 17 María-Jesús Sobrido
?/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46) Unknown - VUS g.62469965G>A g.62702493G>A 269C>T (Ser90Leu) - BSCL2_000006 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Dierick et al., Brain 2008 - rs137852973 Germline ? - - 0 - DNA SEQ - - SPG17 - PubMed: Dierick et al., Brain 2008 - ? ? Netherlands - - 0 - - 1 María-Jesús Sobrido
?/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46) Unknown - VUS g.62469965G>A g.62702493G>A 269C>T (Ser90Leu) - BSCL2_000006 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Dierick et al., Brain 2008 - rs137852973 Germline ? - - 0 - DNA SEQ - - SPG17 - PubMed: Dierick et al., Brain 2008 - ? ? India - - 0 - - 1 María-Jesús Sobrido
?/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46) Unknown - VUS g.62469965G>A g.62702493G>A 269C>T (Ser90Leu) - BSCL2_000006 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Dierick et al., Brain 2008 - rs137852973 Germline ? - - 0 - DNA SEQ - - SPG17 - PubMed: Dierick et al., Brain 2008 - ? ? Belgium - - 0 - - 1 María-Jesús Sobrido
?/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46) Unknown - VUS g.62469965G>A g.62702493G>A 269C>T (Ser90Leu) - BSCL2_000006 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Dierick et al., Brain 2008 - rs137852973 De novo ? - - 0 - DNA SEQ - - SPG17 - PubMed: Dierick et al., Brain 2008 - ? ? Switzerland - - 0 - - 1 María-Jesús Sobrido
?/? 3 c.461C>T r.(?) p.(Ser154Leu) possiblyDamaging 0.814 Tolerated (0.46) Unknown - VUS g.62469965G>A g.62702493G>A 269C>T (Ser90Leu) - BSCL2_000006 not in 1100 control chromosomes; affects N-glycosylation site PubMed: Luigetti et al., Muscle Nerve 2010 - rs137852973 Germline ? - - 0 - DNA SEQ - - HMN5A - PubMed: Luigetti et al., Muscle Nerve 2010 3 mutation positive reported - ? Italy - - 0 - - 3 María-Jesús Sobrido
+/. - c.461C>T r.(?) p.(Ser154Leu) - - - Unknown - pathogenic g.62469965G>A g.62702493G>A BSCL2(NM_001122955.3):c.461C>T (p.S154L) - BSCL2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.461C>T r.(?) p.(Ser154Leu) - - - Unknown - pathogenic g.62469965G>A g.62702493G>A BSCL2(NM_001122955.3):c.461C>T (p.S154L) - BSCL2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »