Full data view for gene OTOF


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_194248.2 transcript reference sequence.

524 entries on 6 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     
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE1117 PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE1765 PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE1780 PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE1801 PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE2401 PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE3745 PubMed: Wu 2018, PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE4496 PubMed: Wu 2018, PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases F - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE4856 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE7573 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE7942 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB A0826 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Both (homozygous) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB A2421 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE2515 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE2575 PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE3152 PubMed: Wu 2018, PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE3247 PubMed: Wu 2018, PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE3249 PubMed: Wu 2018, PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases F - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE3532 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE4417 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE4618 PubMed: Wu 2018, PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE4732 PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE4733 PubMed: Wu 2018, PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases F - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE4777 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE4886 PubMed: Wu 2018, PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE4943 PubMed: Wu 2018, PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE5486 PubMed: Wu 2018, PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE5604 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE6680 PubMed: Wu 2019, PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE6695 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB A1387 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB A2693 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB A2776 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Paternal (inferred) ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB A3436 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Parent #1 ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB DE6002 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Parent #1 ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - DFNB A1053 PubMed: Lin 2025 analysis 65 cases - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Parent #1 ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - Healthy/Control A0787 PubMed: Lin 2025 newborn screening (no deafness) - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Parent #1 ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - Healthy/Control A1385 PubMed: Lin 2025 newborn screening (no deafness) - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.*179A>G r.(?) p.(=) Parent #1 ACMG pathogenic (recessive) g.26680927T>C g.26458059T>C NM_001287489.2:c.5975A>G (Lys1992Arg) - OTOF_000368 - PubMed: Lin 2025 - - Germline - - - - - DNA SEQ - - Healthy/Control A1652 PubMed: Lin 2025 newborn screening (no deafness) - - Taiwan - - - - - 1 Johan den Dunnen
+/+ _1_18i c.-127-?_2214+?del r.0? p.0? Paternal (confirmed) - pathogenic g.26702132_26781566del - - - OTOF_000137 Heterozygous Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Zadro et al,.2010 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Zadro 2010 - - - Italy - - - - - 1 Anne-Françoise Roux
-/. - c.-120G>T r.(?) p.(=) Unknown - benign g.26781559C>A g.26558691C>A - - OTOF_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.51C>T r.(?) p.(Gly17=) Unknown - likely benign g.26781389G>A - OTOF(NM_194248.2):c.51C>T (p.G17=) - C2orf70_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.80G>A r.(?) p.(Gly27Glu) Unknown - VUS g.26760642C>T - - - OTOF_000364 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.145C>T r.(?) p.(Arg49Trp) Unknown - benign g.26750782G>A g.26527914G>A OTOF(NM_194248.2):c.145C>T (p.R49W) - OTOF_000277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.145C>T r.(?) p.(Arg49Trp) Parent #1 - benign g.26750782G>A g.26527914G>A - - OTOF_000277 44 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61746568 Germline - 44/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 44 Mohammed Faruq
?/. - c.154G>A r.(?) p.(Val52Met) Unknown - VUS g.26750773C>T g.26527905C>T OTOF(NM_194248.2):c.154G>A (p.V52M) - OTOF_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.158C>T r.(?) p.(Ala53Val) Unknown - benign g.26750769G>A g.26527901G>A - - OTOF_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.244C>T r.(?) p.(Arg82Cys) Unknown - benign g.26741961G>A g.26519093G>A OTOF(NM_194248.3):c.244C>T (p.R82C) - OTOF_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.244C>T r.(?) p.(Arg82Cys) Unknown - benign g.26741961G>A g.26519093G>A OTOF(NM_194248.3):c.244C>T (p.R82C) - OTOF_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.245G>A r.(?) p.(Arg82His) Unknown - VUS g.26741960C>T g.26519092C>T OTOF(NM_194248.2):c.245G>A (p.R82H) - OTOF_000276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.297G>A r.(?) p.(Thr99=) Unknown - likely benign g.26741908C>T g.26519040C>T OTOF(NM_194248.2):c.297G>A (p.T99=) - OTOF_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 04i c.327+5G>T r.spl? p.? Paternal (inferred) ACMG VUS g.26741873C>A g.26519005C>A - - OTOF_000345 - Vaché et al., submitted - - Germline no - - - - DNA SEQ, SEQ-NG-I blood gene panel DFNA SU333 Vaché submitted daughter of SU332, mother of SU340 F no France Sicilia - - - - 1 Anne-Françoise Roux
?/? 04i c.327+5G>T r.spl? p.? Unknown ACMG VUS g.26741873C>A g.26519005C>A - - OTOF_000345 - Vahcé et al., submitted - - Germline no - - - - DNA SEQ, SEQ-NG-I blood gene panel DFNA SU334 Vaché submitted daughter of SU332, mother of SU7517 F no France Sicilia - - - - 1 Anne-Françoise Roux
?/? 04i c.327+5G>T r.spl? p.? Maternal (confirmed) ACMG VUS g.26741873C>A g.26519005C>A - - OTOF_000345 - Vaché et al., submitted - - Germline no - - - - DNA SEQ, SEQ-NG-I blood gene panel DFNA SU7517 Vaché submitted daughter of SU334 F no France Sicilia - - - - 1 Anne-Françoise Roux
-?/. - c.337T>C r.(?) p.(Cys113Arg) Unknown - likely benign g.26739458A>G g.26516590A>G OTOF(NM_194248.2):c.337T>C (p.C113R) - OTOF_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.367G>A r.(?) p.(Gly123Ser) Unknown - likely benign g.26739428C>T g.26516560C>T OTOF(NM_194248.2):c.367G>A (p.G123S) - OTOF_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.367G>C r.(?) p.(Gly123Arg) Unknown - VUS g.26739428C>G - OTOF(NM_194248.2):c.367G>C (p.G123R) - OTOF_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.372A>G r.(?) p.(Thr124=) Unknown - benign g.26739423T>C g.26516555T>C - - OTOF_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.377G>A r.(?) p.(Gly126Asp) Unknown - VUS g.26739418C>T g.26516550C>T OTOF(NM_194248.2):c.377G>A (p.G126D) - OTOF_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.447G>A r.(?) p.(Thr149=) Unknown - likely benign g.26739348C>T - OTOF(NM_194248.2):c.447G>A (p.T149=) - OTOF_000344 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.505C>T r.(?) p.(Arg169Trp) Unknown - benign g.26739290G>A g.26516422G>A OTOF(NM_194248.2):c.505C>T (p.R169W) - OTOF_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.505C>T r.(?) p.(Arg169Trp) Parent #1 - VUS g.26739290G>A g.26516422G>A - - OTOF_000218 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61744348 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.506G>A r.(?) p.(Arg169Gln) Unknown - VUS g.26739289C>T - - - OTOF_000333 - - - rs149701372 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.531C>T r.(?) p.(Ser177=) Unknown - likely benign g.26726692G>A - OTOF(NM_194248.2):c.531C>T (p.S177=) - OTOF_000339 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.640G>A r.(?) p.(Asp214Asn) Unknown - likely benign g.26725238C>T - OTOF(NM_194248.2):c.640G>A (p.D214N) - OTOF_000319 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.654C>T r.(?) p.(Pro218=) Unknown - likely benign g.26725224G>A - OTOF(NM_194248.2):c.654C>T (p.P218=) - OTOF_000329 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.670G>T r.(?) p.(Ala224Ser) Unknown - VUS g.26725208C>A - OTOF(NM_194248.2):c.670G>T (p.A224S) - OTOF_000338 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.709C>T r.(?) p.(Arg237Ter) Unknown - pathogenic g.26725169G>A g.26502301G>A - - OTOF_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.709C>T r.(?) p.(Arg237*) Parent #1 - pathogenic (recessive) g.26725169G>A g.26502301G>A - - OTOF_000251 - PubMed: [Houseman] - - Germline yes - - - - DNA SEQ, SEQ-NG-I - - DFNB9;AUNB1 - - - F no France - - - - - 1 Sophie Achard
+/. - c.709C>T r.(?) p.(Arg237*) Both (homozygous) - pathogenic (recessive) g.26725169G>A g.26502301G>A 699C>T: p.(Arg237*) - OTOF_000251 - PubMed: Ammar-Khodja 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HL Fam1 PubMed: Ammar-Khodja 2015 3-generation family, 8 affected (8M), unaffected heterozygous parents/relatives M yes Algeria - - - - - 8 Johan den Dunnen
+/+ 8i c.710-2A>G r.(=) p.(?) Both (homozygous) - pathogenic g.26725170T>C - - - OTOF_000101 homozygous Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Yasunaga et al,.2000 - - Germline - - - - - DNA SEQ - - DFNB - PubMed: Yasunaga 2000 proband F - India - - - - - 1 Anne-Françoise Roux
+/+ 8i c.710-2A>G r.(=) p.(?) Both (homozygous) - pathogenic g.26725170T>C - - - OTOF_000102 homozygous Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Yasunaga et al,.2000 - - Germline - - - - - DNA SEQ - - DFNB - PubMed: Yasunaga 2000 proband M - India - - - - - 1 Anne-Françoise Roux
+/+ 8i c.710-2A>G r.(=) p.(?) Both (homozygous) - pathogenic g.26725170T>C - - - OTOF_000103 homozygous Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Yasunaga et al,.2000 - - Germline - - - - - DNA SEQ - - DFNB - PubMed: Yasunaga 2000 proband F - India - - - - - 1 Anne-Françoise Roux
-?/. - c.710+10C>T r.(=) p.(=) Unknown - likely benign g.26725158G>A g.26502290G>A OTOF(NM_194248.2):c.710+10C>T - OTOF_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.710+10C>T r.(=) p.(=) Unknown - benign g.26725158G>A g.26502290G>A OTOF(NM_194248.2):c.710+10C>T - OTOF_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 47 c.711-2A>G r.spl p.? Parent #1 - pathogenic g.26724678T>C g.26501810T>C - - OTOF_000153 Heterozygous PubMed: Matsunaga et al,.2012 - - Germline - 0/190 - - - DNA SEQ - - deafness - PubMed: Matsunaga 2012 - F - Japan - - - - - 1 Anne-Françoise Roux
+/+ 8 c.765G>C r.(?) p.(Gln255His) Unknown - pathogenic g.26724622C>G g.26501754C>G - - OTOF_000078 heterozygous, {MSV3dQ9HC10:p.Gln255His} PubMed: Rodriguez-Ballesteros et al., 2008 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Rodriguez-Ballesteros 2008 proband - - Italy - - - - - 1 Anne-Françoise Roux
-/. - c.766-3C>T r.spl? p.? Unknown - benign g.26717944G>A g.26495076G>A - - OTOF_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 9i c.766-3C>T r.(?) p.(=) Both (homozygous) ACMG likely benign g.26717944G>A g.26495076G>A - - OTOF_000118 homozygous PubMed: Choi et al,.2008 - - Germline - 7/182 - - - DNA SEQ - - DFNB - PubMed: Choi 2008 - - - Pakistan - - - - - 1 Anne-Françoise Roux
+?/. - c.791G>C r.(?) p.(Arg264Pro) Unknown - likely pathogenic g.26717916C>G g.26495048C>G - - OTOF_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.828C>T r.(?) p.(Cys276=) Unknown - likely benign g.26717879G>A - OTOF(NM_194248.2):c.828C>T (p.C276=) - OTOF_000328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.850_852del r.(?) p.(Lys284del) Paternal (confirmed) - pathogenic (recessive) g.26717858_26717860del g.26494990_26494992del - - OTOF_000283 - - - - Germline yes - - - - DNA SEQ-NG - - DFNB9;AUNB1 - - - M no France - - - - - 1 Sophie Achard
+/. - c.854dup r.(?) p.(Tyr285*) Unknown - pathogenic g.26717853dup g.26494985dup - - OTOF_000257 - PubMed: Papuc 2019 - - De novo - - - - - DNA SEQ-NG-I blood WES EE 71412 - - F no Switzerland ancestors from Switzerland and Slovenia - - - - 1 Anaïs Begemann
+/+ 9 c.897-2T>A r.(?) p.? Both (homozygous) - pathogenic g.26717812A>T - - - OTOF_000134 homozygous Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Zadro et al,.2010 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Zadro 2010 - - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 9 c.897+5G>A r.(?) p.? Parent #2 - pathogenic g.26717805C>T g.26494937C>T - - OTOF_000149 Heterozygous PubMed: Matsunaga et al,.2012 - - Germline - 0/362 - - - DNA SEQ - - deafness - PubMed: Matsunaga 2012 - F - Japan - - - - - 1 Anne-Françoise Roux
-?/. - c.898-3C>T r.spl? p.? Unknown - likely benign g.26712611G>A g.26489743G>A OTOF(NM_194248.2):c.898-3C>T - OTOF_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.945G>A r.(?) p.(Lys315=) Unknown - benign g.26712561C>T g.26489693C>T - - OTOF_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 11 c.945G>A r.(?) p.(=) Both (homozygous) ACMG likely benign g.26712561C>T g.26489693C>T - - OTOF_000119 homozygous PubMed: Choi et al,.2008 - - Germline - - - - - DNA SEQ - - DFNB - PubMed: Choi 2008 - - - Pakistan - - - - - 1 Anne-Françoise Roux
-?/-? 11 c.945G>A r.(?) p.(=) Both (homozygous) ACMG likely benign g.26712561C>T g.26489693C>T - - OTOF_000119 homozygous PubMed: Choi et al,.2008 - - Germline - - - - - DNA SEQ - - DFNB - PubMed: Choi 2008 - - - Pakistan - - - - - 1 Anne-Françoise Roux
-?/. - c.961-9G>A r.(=) p.(=) Unknown - likely benign g.26712172C>T - OTOF(NM_194248.2):c.961-9G>A - OTOF_000337 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.986G>A r.(?) p.(Arg329His) Unknown - pathogenic (recessive) g.26712138C>T g.26489270C>T - - OTOF_000282 - - - - Germline yes - - - - DNA SEQ, SEQ-NG - - DFNB9;AUNB1 - - - M no (France) - - - - - 1 Sophie Achard
?/. - c.1000G>C r.(?) p.(Val334Leu) Unknown - VUS g.26712124C>G g.26489256C>G OTOF(NM_194248.2):c.1000G>C (p.V334L) - OTOF_000287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1051C>T r.(?) p.(Gln351Ter) Both (homozygous) ACMG pathogenic (recessive) g.26707496G>A g.26484628G>A - - OTOF_000346 - PubMed: Wonkam 2022 - rs1558492758 Germline yes - - - - DNA SEQ, SEQ-NG-I Blood WES DFNB9;AUNB1 Fam32 PubMed: Wonkam 2022 3-generation family, 2 affected sisters (2F), unaffected heterozygous carrier mother F no Ghana Africa - - - - 3 Yacouba Dia
+?/+? 12 c.1102G>A r.(?) p.(Gly368Arg) Unknown ACMG likely pathogenic g.26707445C>T g.26484577C>T - - OTOF_000126 {MSV3dQ9HC10:p.Gly368Arg} PubMed: Wang et al,.2011 - - Germline - 1/152 controls - - - DNA SEQ - - DFNB - PubMed: Wang 2011 no genotype in the publication - - China - - - - - 1 Anne-Françoise Roux
+/+ 13 c.1103_1104delinsC r.(?) p.(Gly368Alafs*2) Both (homozygous) - pathogenic g.26707443_26707444delinsG g.26484575_26484576delinsG - - OTOF_000108 homozygous PubMed: Choi et al,.2008 - - Germline - 0/196 - - - DNA SEQ - - DFNB - PubMed: Choi 2008 - - - Pakistan - - - - - 1 Anne-Françoise Roux
?/. - c.1126G>A r.(?) p.(Asp376Asn) Unknown - VUS g.26707421C>T - OTOF(NM_194248.2):c.1126G>A (p.D376N) - OTOF_000336 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1135G>A r.(?) p.(Val379Met) Unknown - VUS g.26707412C>T g.26484544C>T OTOF(NM_194248.2):c.1135G>A (p.V379M), OTOF(NM_194248.3):c.1135G>A (p.(Val379Met)) - OTOF_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1135G>A r.(?) p.(Val379Met) Unknown - VUS g.26707412C>T - OTOF(NM_194248.2):c.1135G>A (p.V379M), OTOF(NM_194248.3):c.1135G>A (p.(Val379Met)) - OTOF_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1153A>G r.(?) p.(Asn385Asp) Both (homozygous) - likely pathogenic g.26707394T>C g.26484526T>C - - OTOF_000256 - PubMed: Saeed 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES obesity 29311637-Fam1 PubMed: Saeed 2018 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Pakistan Punjab - - - - 1 Johan den Dunnen
+/+ 12 c.1180dup r.(?) p.(Glu394Glyfs*6) Unknown - pathogenic g.26707367dup g.26484499dup c.1180dupG - OTOF_000052 Heterozygous PubMed: Rodriguez-Ballesteros et al., 2008 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Rodriguez-Ballesteros 2008 proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 12 c.1194T>A r.(?) p.(Asp398Glu) Unknown - pathogenic g.26707353A>T g.26484485A>T - - OTOF_000020 {MSV3dQ9HC10:p.Asp398Glu} PubMed: Wang et al,.2010 - - Germline - 0/184 controls - - - DNA SEQ - - DFNB - PubMed: Wang 2010 proband - - China - - - - - 1 Anne-Françoise Roux
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