Full data view for gene HNRNPUL2-BSCL2

Information The variants shown are described using the NR_037946.1 transcript reference sequence.

102 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     
?/. - n.372_392dup r.(?) - Unknown - VUS g.62494472_62494492dup - HNRNPUL2(NM_001079559.3):c.144_164dup (p.(Gly49_Gly55dup)) - GNG3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.890C>G r.(?) - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.1159G>A r.(?) - Unknown - likely benign g.62490336C>T - HNRNPUL2(NM_001079559.2):c.931G>A (p.(Val311Ile)) - GNG3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.2338C>T r.(?) - Unknown - VUS g.62483025G>A - HNRNPUL2(NM_001079559.3):c.2110C>T (p.(Arg704*)) - GNG3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.2580C>G r.(?) - Unknown - benign g.62474608G>C g.62707136G>C BSCL2(NM_001122955.3):c.60C>G (p.(Asp20Glu)), BSCL2(NM_001122955.4):c.60C>G (p.D20E) - BSCL2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.2580C>G r.(?) - Unknown - likely benign g.62474608G>C - BSCL2(NM_001122955.3):c.60C>G (p.(Asp20Glu)), BSCL2(NM_001122955.4):c.60C>G (p.D20E) - BSCL2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.2608-662C>A r.(?) - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. - n.2620G>A r.(?) - Unknown - VUS g.62473077C>T g.62705605C>T BSCL2(NM_001122955.4):c.100G>A (p.A34T) - GNG3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.2644C>T r.(?) - Unknown - likely benign g.62473053G>A g.62705581G>A BSCL2(NM_001122955.3):c.124C>T (p.R42C), BSCL2(NM_001122955.4):c.124C>T (p.R42C), BSCL2(NM_032667.6):c.-69C>T - BSCL2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.2644C>T r.(?) - Unknown - likely benign g.62473053G>A - BSCL2(NM_001122955.3):c.124C>T (p.R42C), BSCL2(NM_001122955.4):c.124C>T (p.R42C), BSCL2(NM_032667.6):c.-69C>T - BSCL2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.2644C>T r.(?) - Unknown - VUS g.62473053G>A - BSCL2(NM_001122955.3):c.124C>T (p.R42C), BSCL2(NM_001122955.4):c.124C>T (p.R42C), BSCL2(NM_032667.6):c.-69C>T - BSCL2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.2651G>A r.(?) - Unknown - likely benign g.62473046C>T - BSCL2(NM_001122955.4):c.131G>A (p.G44D) - GNG3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.2653G>A r.(?) - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.2704C>T r.(?) - Unknown - VUS g.62472993G>A g.62705521G>A BSCL2(NM_001122955.4):c.184C>T (p.L62F) - GNG3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.2716G>A r.(?) - Unknown - VUS g.62472981C>T - BSCL2(NM_032667.6):c.4G>A (p.V2I) - GNG3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.2786G>T r.(?) - Unknown - VUS g.62472911C>A - BSCL2(NM_001122955.4):c.266G>T (p.(Arg89Leu)) - GNG3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.2805T>G r.(?) - Unknown - VUS g.62472892A>C - BSCL2(NM_001386027.1):c.285T>G (p.F95L) - GNG3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.2867_2869del r.(?) - Unknown - VUS g.62472830_62472832del - BSCL2(NM_032667.6):c.155_157delTCT (p.F52del) - GNG3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - n.2905_2906delinsGGA r.(?) - Unknown - VUS g.62472791_62472792delinsTCC g.62705319_62705320delinsTCC V99IfsX49 - BSCL2_000044 - PubMed: Boutet et al., Biochimie 2009 - - Unknown ? - - - - DNA SEQ - - CGL2 - PubMed: Boutet et al., Biochimie 2009 2 affected - ? Portugal - - - - - 2 María-Jesús Sobrido
?/. - n.2966C>T r.(?) - Unknown - VUS g.62469980G>A g.62702508G>A - - BSCL2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - n.2975A>G r.(?) - 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 - - - - DNA SEQ - - HMN5A - PubMed: Irobi et al., 2004 5 generation family, 12 mutationpositive reported - no Italy - - - - - 12 María-Jesús Sobrido
./. - n.2975A>G r.(?) - 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 - - - - DNA SEQ - - HMN5A - PubMed: Brusse et al., Neurogenetics 2009 4 generation family, 11 mutationpositive reported - no Netherlands - - - - - 11 María-Jesús Sobrido
./. - n.2975A>G r.(?) - 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 ? - - - - DNA SEQ - - SPG17 - PubMed: Cafforio et al., Neurol. Sci. 2008 2 generation family, 2 mutation positive reported - ? Italy - - - - - 2 María-Jesús Sobrido
./. - n.2975A>G r.(?) - 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 - - - - DNA SEQ - - HMN5A - PubMed: Chen et al., Neuropathology 2009 4 generation family, 5 mutation positive reported - ? China - - - - - 5 María-Jesús Sobrido
./. - n.2975A>G r.(?) - 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 ? - - - - DNA SEQ - - HMN5A - PubMed: Dierick et al., Brain 2008 - ? ? - - - - - - 1 María-Jesús Sobrido
./. - n.2975A>G r.(?) - 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 ? - - - - DNA SEQ - - HMN5A - PubMed: Dierick et al., Brain 2008 - ? ? Poland - - - - - 1 María-Jesús Sobrido
./. - n.2975A>G r.(?) - 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 ? - - - - DNA SEQ - - SPG17 - PubMed: Kochanski et al., Neurol. Neurochir. 2007 3 generation family, 1 mutation positive reported M ? Poland - - - - - 1 María-Jesús Sobrido
./. - n.2975A>G r.(?) - 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 - - - - DNA SEQ - - SPG17 - PubMed: RakocevicStojanovic et al., J. Neurol. Sci. 2010 5 generation family, 3 mutation positive reported - no - - - - - - 3 María-Jesús Sobrido
+/. - n.2975A>G r.(?) - Unknown - pathogenic g.62469971T>C g.62702499T>C BSCL2(NM_001122955.4):c.455A>G (p.N152S), BSCL2(NM_032667.6):c.263A>G (p.N88S) - BSCL2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - n.2975A>G r.(?) - Unknown - pathogenic g.62469971T>C g.62702499T>C BSCL2(NM_001122955.4):c.455A>G (p.N152S), BSCL2(NM_032667.6):c.263A>G (p.N88S) - BSCL2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - n.2980T>C r.(?) - 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 - - - - - - - - - - - - - - - - - - - - - - -
./. - n.2981C>T r.(?) - 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 ? - - - - DNA SEQ - - SPG17 - PubMed: Irobi et al., Brain 2004 5 generation family, 17 mutationpositive reported - no Belgium - - - - - 17 María-Jesús Sobrido
./. - n.2981C>T r.(?) - 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 ? - - - - DNA SEQ - - SPG17 - PubMed: Dierick et al., Brain 2008 - ? ? Netherlands - - - - - 1 María-Jesús Sobrido
./. - n.2981C>T r.(?) - 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 ? - - - - DNA SEQ - - SPG17 - PubMed: Dierick et al., Brain 2008 - ? ? India - - - - - 1 María-Jesús Sobrido
./. - n.2981C>T r.(?) - 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 ? - - - - DNA SEQ - - SPG17 - PubMed: Dierick et al., Brain 2008 - ? ? Belgium - - - - - 1 María-Jesús Sobrido
./. - n.2981C>T r.(?) - 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 ? - - - - DNA SEQ - - SPG17 - PubMed: Dierick et al., Brain 2008 - ? ? Switzerland - - - - - 1 María-Jesús Sobrido
./. - n.2981C>T r.(?) - 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 ? - - - - DNA SEQ - - HMN5A - PubMed: Luigetti et al., Muscle Nerve 2010 3 mutation positive reported - ? Italy - - - - - 3 María-Jesús Sobrido
+/. - n.2981C>T r.(?) - Unknown - pathogenic g.62469965G>A g.62702493G>A BSCL2(NM_001122955.4):c.461C>T (p.S154L) - BSCL2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - n.2981C>T r.(?) - Unknown - pathogenic g.62469965G>A g.62702493G>A BSCL2(NM_001122955.4):c.461C>T (p.S154L) - BSCL2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - n.3006+11G>T r.(?) - Unknown - VUS g.62469929C>A g.62702457C>A 294+11G>T - BSCL2_000010 - PubMed: Brugman et al., J. Neurol. 2009 - rs72929434 Unknown - 1000G=15.00;EVS=18.5 - - - DNA SEQ - - HMN5A - PubMed: Brugman et al., J. Neurol. 2009 27 affected - ? Denmark - - - - - 27 María-Jesús Sobrido
-/. - n.3006+11G>T r.(?) - Unknown - benign g.62469929C>A g.62702457C>A BSCL2(NM_001122955.4):c.486+11G>T - BSCL2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.3006+11G>T r.(?) - Unknown - benign g.62469929C>A g.62702457C>A BSCL2(NM_001122955.4):c.486+11G>T - BSCL2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.3007-14G>A r.(?) - Unknown - likely benign g.62462197C>T g.62694725C>T BSCL2(NM_001122955.4):c.487-14G>A - BSCL2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3007-2A>C r.(?) - Unknown - VUS g.62462185T>G g.62694713T>G BSCL2(NM_001122955.3):c.487-2A>C - BSCL2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? - n.3026_3030del r.(?) - Parent #1 - pathogenic g.62462160_62462164del g.62694688_62694692del 507_511del - BSCL2_000042 - PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA SEQ - - Healthy/Control - PubMed: Guillen-Navarro 2013 4-generation family, unaffected carrier F no Spain - - - - - 1 Johan den Dunnen
+/? - n.3026_3030del r.(?) - Paternal (confirmed) - pathogenic g.62462160_62462164del g.62694688_62694692del 507_511del - BSCL2_000042 - PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Guillen-Navarro 2013 4-generation family, affected male patient 3 M no Spain - 7y - - - 1 Johan den Dunnen
./. - n.3029_3033del r.(?) - Paternal (confirmed) - pathogenic g.62462160_62462164del g.62694688_62694692del 507_511del - BSCL2_000042 - PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Guillen-Navarro 2013 4-generation family, affected female patient 5 F no Spain - >4y - - - 1 Johan den Dunnen
?/? - n.3037dup r.(?) - Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 2 generation family, 3 affected F yes Brazil - - - - - 1 María-Jesús Sobrido
?/? - n.3037dup r.(?) - Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 4 generation family, 2 affected M no Brazil - - - - - 1 María-Jesús Sobrido
?/? - n.3037dup r.(?) - Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 4 generation family, 2 affected M no Brazil - - - - - 1 María-Jesús Sobrido
?/? - n.3037dup r.(?) - Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 4 generation family, 3 affected M yes Brazil - - - - - 1 María-Jesús Sobrido
?/? - n.3037dup r.(?) - Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 4 generation family, 3 affected M yes Brazil - - - - - 1 María-Jesús Sobrido
?/? - n.3037dup r.(?) - Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 2 generation family, 2 affected F yes Brazil - - - - - 1 María-Jesús Sobrido
?/? - n.3037dup r.(?) - Unknown - VUS g.62462153dup g.62694681dup 669insA (F108fsX113) - BSCL2_000048 - PubMed: Gomes et al., J. Clin. Endocrinol. Metab. 2004 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Gomes 2004 2 generation family, 1 affected M no Brazil - - - - - 1 María-Jesús Sobrido
-?/. - n.3108C>T r.(?) - Unknown - likely benign g.62462082G>A - BSCL2(NM_001122955.4):c.588C>T (p.C196=) - GNG3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3113C>T r.(?) - Unknown - VUS g.62462077G>A - BSCL2(NM_001122955.4):c.593C>T (p.(Thr198Ile)) - GNG3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3118G>A r.(?) - Unknown - VUS g.62462072C>T - BSCL2(NM_032667.6):c.406G>A (p.G136S) - GNG3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3134C>T r.(?) - Unknown - VUS g.62462056G>A g.62694584G>A BSCL2(NM_001122955.3):c.614C>T (p.S205F) - GNG3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.3150+15C>A r.(?) - Unknown - likely benign g.62462025G>T g.62694553G>T BSCL2(NM_001122955.3):c.630+15C>A - BSCL2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3151-2A>C r.(?) - Unknown - VUS g.62460271T>G g.62692799T>G BSCL2(NM_001122955.3):c.631-2A>C - BSCL2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.3285+15C>T r.(?) - Unknown - benign g.62460120G>A g.62692648G>A BSCL2(NM_001122955.3):c.765+15C>T (p.(=)), BSCL2(NM_001122955.4):c.765+15C>T - BSCL2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.3285+15C>T r.(?) - Unknown - benign g.62460120G>A - BSCL2(NM_001122955.3):c.765+15C>T (p.(=)), BSCL2(NM_001122955.4):c.765+15C>T - BSCL2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3328C>T r.(?) - Unknown - VUS g.62459903G>A - BSCL2(NM_032667.6):c.616C>T (p.R206C) - GNG3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.3343G>A r.(?) - Unknown - likely benign g.62459888C>T - BSCL2(NM_001122955.3):c.823G>A (p.(Gly275Arg)) - GNG3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? - n.3346G>C r.(?) - Unknown - VUS g.62459885C>G g.62692413C>G p.A212P - BSCL2_000043 - PubMed: Boutet et al., Biochimie 2009 - rs137852971 Unknown ? - - - - DNA SEQ - - CGL2 - PubMed: Boutet et al., Biochimie 2009 1 affected M ? Norway - - - - - 1 María-Jesús Sobrido
-?/. - n.3364G>A r.(?) - Unknown - likely benign g.62459867C>T g.62692395C>T BSCL2(NM_001122955.3):c.844G>A (p.A282T), BSCL2(NM_001122955.4):c.844G>A (p.(Ala282Thr)), BSCL2(NM_001386027.1):c.844G>A (p.A282T) - GNG3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3364G>A r.(?) - Unknown - VUS g.62459867C>T - BSCL2(NM_001122955.3):c.844G>A (p.A282T), BSCL2(NM_001122955.4):c.844G>A (p.(Ala282Thr)), BSCL2(NM_001386027.1):c.844G>A (p.A282T) - GNG3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3364G>A r.(?) - Unknown - VUS g.62459867C>T - BSCL2(NM_001122955.3):c.844G>A (p.A282T), BSCL2(NM_001122955.4):c.844G>A (p.(Ala282Thr)), BSCL2(NM_001386027.1):c.844G>A (p.A282T) - GNG3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.3364G>A r.(?) - Unknown - likely benign g.62459867C>T - BSCL2(NM_001122955.3):c.844G>A (p.A282T), BSCL2(NM_001122955.4):c.844G>A (p.(Ala282Thr)), BSCL2(NM_001386027.1):c.844G>A (p.A282T) - GNG3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.3365C>T r.(?) - Unknown - benign g.62459866G>A - BSCL2(NM_032667.6):c.653C>T (p.A218V) - BSCL2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.3381C>T r.(?) - Unknown - likely benign g.62459850G>A g.62692378G>A BSCL2(NM_001122955.4):c.861C>T (p.L287=) - BSCL2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.3381C>T r.(?) - Unknown - likely benign g.62459850G>A g.62692378G>A BSCL2(NM_001122955.4):c.861C>T (p.L287=) - BSCL2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? - n.3384-3C>G r.spl? p.? Unknown - VUS g.62458896G>C g.62691424G>C Y225LfsX64 - BSCL2_000050 - PubMed: Boutet et al., Biochimie 2009 - - Unknown ? - - - - DNA, RNA SEQ - - CGL2 - PubMed: Boutet et al., Biochimie 2009 1 affected - ? Turkey - - - - - 1 María-Jesús Sobrido
?/. - n.3407T>C r.(?) - Unknown - VUS g.62458870A>G - BSCL2(NM_032667.6):c.695T>C (p.M232T) - GNG3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3415G>A r.(?) - Unknown - VUS g.62458862C>T g.62691390C>T BSCL2(NM_001122955.4):c.895G>A (p.A299T) - GNG3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.3453C>T r.(?) - Unknown - likely benign g.62458824G>A g.62691352G>A BSCL2(NM_001122955.4):c.933C>T (p.S311=) - GNG3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? - n.3495dup r.(?) - Parent #1 - VUS g.62458782dup g.62691310dupC 783insG (I262fsX273) - BSCL2_000038 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Huang et al., Kaohsiung J. Med. Sci. 2010 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: Huang et al., Kaohsiung J. Med. Sci. 2010 2 generation family, 1 affected M no Taiwan - - - - - 1 María-Jesús Sobrido
?/? - n.3495dup r.(?) - Maternal (confirmed) - VUS g.62458782dup g.62691310dupC 783insG (I262fsX273) - BSCL2_000038 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Wu et al., J. Neurol. Neurosurg. Psychiatry 2009 - - Germline ? - - - - DNA SEQ - - CGL2 - PubMed: Wu et al., J. Neurol. Neurosurg. Psychiatry 2009 1 affected M ? Taiwan - - - - - 1 María-Jesús Sobrido
+/? - n.3505C>T r.(?) - Paternal (inferred) - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA SEQ - - CGL2 - PubMed: GuillenNavarro 2013 4generation family, 1 affected F yes Spain - - - - - 1 Johan den Dunnen
+/? - n.3505C>T r.(?) - Maternal (confirmed) - pathogenic g.62458772G>A g.62691300G>A - - BSCL2_000040 founder haplotype PubMed: Guillen-Navarro 2013 - - Germline yes - - - - DNA SEQ - - Healthy/Control - PubMed: Guillen-Navarro 2013 4-generation family, unaffected carrier M no Spain - - - - - 1 Johan den Dunnen
+?/. - n.3524A>C r.(?) - Unknown - likely pathogenic g.62458753T>G - BSCL2(NM_001122955.4):c.1004A>C (p.(Gln335Pro)) - GNG3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.3526-50T>G r.(?) - Parent #1 - benign g.62458663A>C g.62691191A>C - - BSCL2_000013 43 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72929419 Germline - 43/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 43 Mohammed Faruq
?/. - n.3620C>T r.(?) - Unknown - VUS g.62458312G>A g.62690840G>A BSCL2(NM_001122955.4):c.1100C>T (p.P367L) - BSCL2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.3620C>T r.(?) - Unknown - likely benign g.62458312G>A g.62690840G>A BSCL2(NM_001122955.4):c.1100C>T (p.P367L) - BSCL2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3643G>T r.(?) - Unknown - VUS g.62458289C>A - BSCL2(NM_001122955.4):c.1123G>T (p.G375C) - GNG3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.3657A>G r.(?) - Unknown - benign g.62458275T>C g.62690803T>C BSCL2(NM_001130702.2):c.803A>G (p.K268R, p.(Lys268Arg)), HNRNPUL2-BSCL2(NR_037946.1):n.3657A>G - BSCL2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.3657A>G r.(?) - Unknown - benign g.62458275T>C - BSCL2(NM_001130702.2):c.803A>G (p.K268R, p.(Lys268Arg)), HNRNPUL2-BSCL2(NR_037946.1):n.3657A>G - BSCL2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.3657A>G r.(?) - Unknown - benign g.62458275T>C - BSCL2(NM_001130702.2):c.803A>G (p.K268R, p.(Lys268Arg)), HNRNPUL2-BSCL2(NR_037946.1):n.3657A>G - BSCL2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3730_3732del r.(?) - Unknown - VUS g.62458109_62458111del g.62690637_62690639del BSCL2(NM_001122955.4):c.1210_1212delGAG (p.E404del) - BSCL2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.3771A>G r.(?) - Unknown - benign g.62457977T>C g.62690505T>C BSCL2(NM_001122955.4):c.1251A>G (p.E417=) - BSCL2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.3800T>C r.(?) - Unknown - likely benign g.62457948A>G g.62690476A>G BSCL2(NM_001122955.3):c.1280T>C (p.L427P, p.(Leu427Pro)), BSCL2(NM_001122955.4):c.1280T>C (p.L427P), BSCL2(NM_032667.6):c.1088T>C (p.L363P) - BSCL2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.3800T>C r.(?) - Unknown - likely benign g.62457948A>G g.62690476A>G BSCL2(NM_001122955.3):c.1280T>C (p.L427P, p.(Leu427Pro)), BSCL2(NM_001122955.4):c.1280T>C (p.L427P), BSCL2(NM_032667.6):c.1088T>C (p.L363P) - BSCL2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.3800T>C r.(?) - Unknown - likely benign g.62457948A>G g.62690476A>G BSCL2(NM_001122955.3):c.1280T>C (p.L427P, p.(Leu427Pro)), BSCL2(NM_001122955.4):c.1280T>C (p.L427P), BSCL2(NM_032667.6):c.1088T>C (p.L363P) - BSCL2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.3800T>C r.(?) - Unknown - likely benign g.62457948A>G g.62690476A>G BSCL2(NM_001122955.3):c.1280T>C (p.L427P, p.(Leu427Pro)), BSCL2(NM_001122955.4):c.1280T>C (p.L427P), BSCL2(NM_032667.6):c.1088T>C (p.L363P) - BSCL2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.3800T>C r.(?) - Unknown - likely benign g.62457948A>G - BSCL2(NM_001122955.3):c.1280T>C (p.L427P, p.(Leu427Pro)), BSCL2(NM_001122955.4):c.1280T>C (p.L427P), BSCL2(NM_032667.6):c.1088T>C (p.L363P) - BSCL2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.3808C>T r.(?) - Unknown - likely benign g.62457940G>A g.62690468G>A BSCL2(NM_001122955.3):c.1288C>T (p.P430S) - BSCL2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3854G>A r.(?) - Unknown - VUS g.62457894C>T g.62690422C>T BSCL2(NM_001122955.4):c.1334G>A (p.S445N) - BSCL2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3880C>T r.(?) - Unknown - VUS g.62457868G>A - BSCL2(NM_001122955.3):c.1360C>T (p.(Arg454*)) - GNG3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3881G>A r.(?) - Unknown - VUS g.62457867C>T - BSCL2(NM_001122955.4):c.1361G>A (p.R454Q) - GNG3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3887G>A r.(?) - Unknown - VUS g.62457861C>T - BSCL2(NM_001122955.3):c.1367G>A (p.R456H), BSCL2(NM_032667.6):c.1175G>A (p.R392H) - BSCL2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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