Full data view for gene SSBP1

Information The variants shown are described using the NM_003143.2 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
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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     
+/. - c.79G>A r.(?) p.(Glu27Lys) Unknown - pathogenic (dominant) g.141442023G>A g.141742223G>A - - SSBP1_000007 - PubMed: Gustafson 2019 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt 1 PubMed: Gustafson 2019 - M no China - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (inferred) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Jurkute 2021 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG - - neuropathy, optic Family 2/ Individual IV:1 PubMed: Jurkute 2021 Patient IV:1 from Family 2: 4-generation family, 3 affected great-grandmother, mother and daughter, 3 deaths F no Nigeria - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt V:9 PubMed: Piro 2020 Patient (Pt) V:9 from Family A: 7-generation family, 28 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - 28 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline no - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:14 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:14 from Family A: 7-generation family, 28 affected. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline no - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:15 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:15 from Family A: 7-generation family, 28 affected. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021, PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt IV:6 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) IV:6 from Family A: 7-generation family, 28 affected. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt V:13 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:13 from Family A: 7-generation family, 28 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt V:28 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:28 from Family A: 7-generation family, 28 affected. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (inferred) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt V:41 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:41 from Family A: 7-generation family, 28 affected. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-ON - - neuropathy, optic Family A/ Pt VI:8 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:8 from Family A: 7-generation family, 28 affected. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-ON - - neuropathy, optic Family A/ Pt VI:19 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:19 from Family A: 7-generation family, 28 affected. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:20 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:20 from Family A: 7-generation family, 28 affected. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:34 PubMed: Meunier 2021 Patient (Pt) VI:34 from Family A: 7-generation family, 28 affected. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:35 PubMed: Meunier 2021 Patient (Pt) VI:35 from Family A: 7-generation family, 28 affected. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VII:3 PubMed: Meunier 2021 Patient (Pt) VII:3 from Family A: 7-generation family, 28 affected. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (inferred) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt V:3 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:3 from Family A: 7-generation family, 28 affected. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt V:11 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:11 from Family A: 7-generation family, 28 affected. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (inferred) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt V:39 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:39 from Family A: 7-generation family, 28 affected. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (inferred) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt V:47 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:47 from Family A: 7-generation family, 28 affected. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:4 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:4 from Family A: 7-generation family, 28 affected. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:17 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:17 from Family A: 7-generation family, 28 affected. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:21 PubMed: Piro 2020 Patient (Pt) VI:21 from Family A: 7-generation family, 28 affected. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:24 PubMed: Piro 2020 Patient (Pt) VI:24 from Family A: 7-generation family, 28 affected. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:25 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:25 from Family A: 7-generation family, 28 affected. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:38 PubMed: Meunier 2021 Patient (Pt) VI:38 from Family A: 7-generation family, 28 affected. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VII:1 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VII:1 from Family A: 7-generation family, 28 affected. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (inferred) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VII:8 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VII:8 from Family A: 7-generation family, 28 affected. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (inferred) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt IV:17 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) IV:17 from Family A: 7-generation family, 28 affected. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (inferred) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/Pt V:42 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:24 from Family A: 7-generation family, 28 affected. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family B/Pt III:1 PubMed: Piro 2020 Patient III:1 from Family B: 3-generation family, 4 affected grandfather, father, and 2 daughter. F no Germany - - - - - 4 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Unknown - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Piro 2020 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - - neuropathy, optic Family B/Pt I:1 PubMed: Piro 2020 Patient I:1 from Family B: 3-generation family, 4 affected grandfather, father, and 2 daughter. M ? Germany - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family B/Pt II:1 PubMed: Piro 2020 Patient II:1 from Family B: 3-generation family, 4 affected grandfather, father, and 2 daughter. M no Germany - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Piro 2020 - - Germline yes - - - - DNA ARMS - - neuropathy, optic Family B/Pt III:2 PubMed: Piro 2020 Patient I:1 from Family B: 3-generation family, 4 affected grandfather, father, and 2 daughter. F no Germany - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Parent #1 - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Jurkute 2019 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - - neuropathy, optic Family 2/Pt II:2 PubMed: Jurkute 2019 Patient II:2 (Pt II:2) from Family 2: 3-generation family, 3 affected, 2 deaths. M ? - - - - - - 5 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Jurkute 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 2/Pt III:1 PubMed: Jurkute 2019 Patient III:1 (Pt III:1) from Family 2: 3-generation family, 3 affected, 2 deaths. M no - - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (confirmed) - VUS g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Jurkute 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 2/Pt III:4 PubMed: Jurkute 2019 Patient III:4 (Pt III:4) from Family 2: 3-generation family, 3 affected, 2 deaths. M no - - - - - - 1 Mohamed Selhane
+/. - c.119G>T r.(?) p.(Gly40Val) Unknown - likely pathogenic (dominant) g.141443394G>T g.141743594G>T - - SSBP1_000003 - PubMed: Del Doto 2019 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Family 2/Pt 3 PubMed: Del Doto 2019 Patient 3 (Pt 3) from Family 2: 3-generation family, 1 affected. F no United States - - - - - 1 Mohamed Selhane
+/. - c.119G>T r.(?) p.(Gly40Val) Unknown - likely pathogenic (dominant) g.141443394G>T g.141743594G>T - - SSBP1_000003 - PubMed: Del Doto 2019 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Family 2/Pt 3 PubMed: Del Doto 2019 Patient 3 (Pt 3) from Family 2: 3-generation family, 1 affected. F no United States - - - - - 1 Mohamed Selhane
+/. - c.151A>G r.(?) p.(Lys51Glu) Paternal (confirmed) - VUS g.141443426A>G g.141743626A>G - - SSBP1_000009 - PubMed: Jurkute 2021 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/individual III:3 PubMed: Jurkute 2021 Patient III:3 from Family 1: 3-generation family, 3 affected father, son and daughter. M no - - - - - - 3 Mohamed Selhane
+/. - c.151A>G r.(?) p.(Lys51Glu) Unknown - VUS g.141443426A>G g.141743626A>G - - SSBP1_000009 - PubMed: Jurkute 2021 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/individual III:3 PubMed: Jurkute 2021 Patient III:3 from Family 1: 3-generation family, 3 affected father, son and daughter. M no - - - - - - 3 Mohamed Selhane
+/. - c.151A>G r.(?) p.(Lys51Glu) Paternal (confirmed) - VUS g.141443426A>G g.141743626A>G - - SSBP1_000009 - PubMed: Jurkute 2021 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/individual III:2 PubMed: Jurkute 2021 Patient III:2 from Family 1: 3-generation family, 3 affected father, son and daughter. F no - - - - - - 1 Mohamed Selhane
+/. - c.151A>G r.(?) p.(Lys51Glu) Unknown - VUS g.141443426A>G g.141743626A>G - - SSBP1_000009 - PubMed: Jurkute 2021 - - De novo yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/ individual II:3 PubMed: Jurkute 2021 Patient II:3 from Family 1: 3-generation family, 3 affected father, son and daughter. M no - - - - - - 1 Mohamed Selhane
+/. - c.184A>G r.(?) p.(Asn62Asp) Unknown - likely pathogenic (dominant) g.141443459A>G g.141743659A>G - - SSBP1_000004 - PubMed: Del Doto 2019 - - De novo yes - - - - DNA SEQ-NG - - neuropathy, optic Family 4/Pt 5 PubMed: Del Doto 2019 Patient 5 (Pt 5) from Family 4: 3-generation family, 3 affected father and son/daughter, 1 death. M no Italy - - - - - 3 Mohamed Selhane
+/. - c.184A>G r.(?) p.(Asn62Asp) Paternal (confirmed) - VUS g.141443459A>G g.141743659A>G - - SSBP1_000004 - PubMed: Del Doto 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 4/Pt 6 PubMed: Del Doto 2019 Patient 6 (Pt 6) from Family 4: 3-generation family, 3 affected father and son/daughter, 1 death M no Italy - - - - - 1 Mohamed Selhane
+?/. - c.184A>G r.(?) p.(Asn62Asp) Paternal (confirmed) - VUS g.141443459A>G g.141743659A>G - - SSBP1_000004 - PubMed: Del Doto 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 4/ Pt 7 PubMed: Del Doto 2019 Patient 7 (Pt 7) from Family 4: 3-generation family, 3 affected father and son/daughter, 1 death F no Italy - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Paternal (confirmed) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Del Doto 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family1/Pt 2 PubMed: Del Doto 2019 Patient 2 (Pt 2) from Family 1: 3-generation family, 2 affected father and son M no Italy - - - - - 2 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Unknown - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Del Doto 2019 - - De novo yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt 1 PubMed: Del Doto 2019 Patient 1 (Pt 1) from Family 1: 3-generation family, 2 affected father and son M no Italy - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Unknown - pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2021 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic family 3/ Individual III:3 PubMed: Jurkute 2021 PubMed: Jurkute 2021 M no - - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Unknown - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Piro 2020 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Family c/Pt I PubMed: Piro 2020 Patient (Pt) I from Family C: 2-generation family 1 affected. M no Germany - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Maternal (inferred) - likely pathogenic g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family D/Pt 1 PubMed: Piro 2020 Patient (Pt) I from Family D: 4-generation family 5 affected, great grandfather, grandmother, great-uncle, mother and son F no Germany - - - - - 2 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Parent #1 - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Piro 2020 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Family E/Pt I PubMed: Piro 2020 Patient (Pt) I from Family E: 2-generation family 1 affected, daughter. F - Germany - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Paternal (inferred) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt III:8 PubMed: Jurkute 2019 Patient (Pt) III:8 from Family 1: 5-generation family, 23 affected. M no - - - - - - 11 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Paternal (inferred) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt III:16 PubMed: Jurkute 2019 Patient (Pt) III:16 from Family 1: 5-generation family, 23 affected. M no - - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Paternal (confirmed) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt IV:3 PubMed: Jurkute 2019 Patient (Pt) IV:3 from Family 1: 5-generation family, 23 affected. F no - - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Paternal (confirmed) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt IV:7 PubMed: Jurkute 2019 Patient (Pt) IV:3 from Family 1: 5-generation family, 23 affected. M no - - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Paternal (confirmed) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt IV:8 PubMed: Jurkute 2019 Patient (Pt) IV:8 from Family 1: 5-generation family, 23 affected. F no - - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Paternal (inferred) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt IV:12 PubMed: Jurkute 2019 Patient (Pt) IV:12 from Family 1: 5-generation family, 23 affected. F no - - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Paternal (inferred) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt IV:14 PubMed: Jurkute 2019 - F no - - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Paternal (inferred) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt IV:18 PubMed: Jurkute 2019 Patient (Pt) IV:18 from Family 1: 5-generation family, 23 affected. F no - - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Maternal (confirmed) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt V:2 PubMed: Jurkute 2019 Patient (Pt) V:2 from Family 1: 5-generation family, 23 affected. F no - - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Maternal (confirmed) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt V:5 PubMed: Jurkute 2019 Patient (Pt) V:5 from Family 1: 5-generation family, 23 affected. M no - - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Maternal (confirmed) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt IV:12 PubMed: Jurkute 2019 Patient (Pt) V:12 from Family 1: 5-generation family, 23 affected. M no - - - - - - 1 Mohamed Selhane
+/. - c.331G>C r.(?) p.(Glu111Gln) Unknown - VUS g.141445312G>C g.141745512G>C - - SSBP1_000005 - PubMed: Del Doto 2019 - - De novo yes - - - - DNA SEQ-NG - - neuropathy, optic Family 3/Pt 4 PubMed: Del Doto 2019 Patient 4 (Pt 4) from Family 3: 2-generation family, 1 affected. M no Italy - - - - - 1 Mohamed Selhane
+/. - c.335G>A r.(?) p.(Gly112Glu) Unknown - likely pathogenic (dominant) g.141445316G>A g.141745516G>A - - SSBP1_000010 - PubMed: Jurkute 2021 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG - - neuropathy, optic Family 5/ individual II:4 PubMed: Jurkute 2021 Individual II:4 from Family 5: 3-generation family, 1 affected father, 4 deaths. M no - - - - - - 1 Mohamed Selhane
+?/. - c.364A>G r.(?) p.(Lys122Glu) Unknown ACMG VUS g.141445345A>G - - - SSBP1_000001 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - OPA IR_GH_0183 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. - c.364A>G r.(?) p.(Lys122Glu) Maternal (confirmed) - VUS g.141445345A>G g.141745545A>G - - SSBP1_000001 - PubMed: Jun 2022 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt III:1 PubMed: Jun 2022 Patient (Pt) III:1 from Family 1: 3-generation family 4 affected, grandfather, mother, uncle, daughter and son M no Korea - - - - - 3 Mohamed Selhane
+/. - c.364A>G r.(?) p.(Lys122Glu) Paternal (inferred) - VUS g.141445345A>G g.141745545A>G - - SSBP1_000001 - PubMed: Jun 2022 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/ individual II:4 PubMed: Jun 2022 Patient (Pt) II:4 from Family 1: 3-generation family 4 affected, grandfather, mother, uncle, daughter and son. F no Korea - - - - - 1 Mohamed Selhane
+/. - c.364A>G r.(?) p.(Lys122Glu) Maternal (confirmed) - VUS g.141445345A>G g.141745545A>G - - SSBP1_000001 unaffected PubMed: Jun 2022 - - Germline no - - - - DNA SEQ-NG - - neuropathy, optic Family 1/ individual III:2 PubMed: Jun 2022 Patient (Pt) III:2 from Family 1: 3-generation family 4 affected, grandfather, mother, uncle, daughter and son F no Korea - - - - - 1 Mohamed Selhane
+/. - c.394A>G r.(?) p.(Ile132Val) Unknown - VUS g.141445375A>G g.141745575A>G - - SSBP1_000006 - PubMed: Del Doto 2019 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Family 5/ Pt 8 PubMed: Del Doto 2019 Patient 8 (Pt 8) from Family 5: 2-generation family, 1 affected (Pt 8), 1 death M no Austria - - - - - 1 Mohamed Selhane
+/. - c.394A>G r.(?) p.(Ile132Val) Unknown - VUS g.141445375A>G g.141745575A>G - - SSBP1_000006 - PubMed: Jurkute 2021 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Family 4/ Individual III:5 PubMed: Jurkute 2021 Individual III:5 from Family 4: 4-generation family, 1 affected : son, 6 deaths. M no - - - - - - 1 Mohamed Selhane
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