Full data view for gene TMPRSS3

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

204 entries on 3 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.-198G>A r.(?) p.(=) Unknown - benign g.43816197C>T g.42396088C>T - - TMPRSS3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-174T>G r.(?) p.(=) Unknown - benign g.43816173A>C g.42396064A>C - - TMPRSS3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-131G>C r.(?) p.(=) Unknown - benign g.43816130C>G g.42396021C>G - - TMPRSS3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-52+3G>T r.spl? p.? Unknown - VUS g.43816048C>A g.42395939C>A TMPRSS3(NM_001256317.1):c.-52+3G>T (p.(=)) - TMPRSS3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-52+4A>T r.spl? p.? Unknown - VUS g.43816047T>A g.42395938T>A TMPRSS3(NM_001256317.1):c.-52+4A>T (p.(=)) - TMPRSS3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-51-7G>C r.(=) p.(=) Unknown - likely benign g.43815584C>G g.42395475C>G - - TMPRSS3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-34G>A r.(?) p.(=) Unknown - benign g.43815560C>T g.42395451C>T - - TMPRSS3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.36dup r.(?) p.(Phe13Leufs*10) Parent #1 - pathogenic g.43815495dup g.42395386dup - - TMPRSS3_000108 - MORL Deafness Variation Database, PubMed: Diaz-Horta 2012 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Diaz-Horta 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.46C>T r.(?) p.(Arg16Ter) Unknown - pathogenic g.43815481G>A g.42395372G>A TMPRSS3(NM_024022.4):c.46C>T (p.R16*) - TMPRSS3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.46C>T r.(?) p.(Arg16*) Parent #1 - likely pathogenic g.43815481G>A g.42395372G>A - - TMPRSS3_000015 - MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - HL - - - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.46C>T r.(?) p.(Arg16Ter) Unknown - pathogenic g.43815481G>A - TMPRSS3(NM_024022.4):c.46C>T (p.R16*) - TMPRSS3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.47G>A r.(?) p.(Arg16Gln) Unknown - likely benign g.43815480C>T g.42395371C>T TMPRSS3(NM_024022.2):c.47G>A (p.R16Q) - TMPRSS3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.157G>A r.(?) p.(Val53Ile) Unknown - benign g.43810084C>T g.42389975C>T - - TMPRSS3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.157G>A r.(?) p.(Val53Ile) Parent #1 - likely benign g.43810084C>T g.42389975C>T - - TMPRSS3_000028 225 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs928302 Germline - 225/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 225 Mohammed Faruq
-?/. - c.157G>A r.(?) p.(Val53Ile) Both (homozygous) - likely benign g.43810084C>T g.42389975C>T - - TMPRSS3_000028 14 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs928302 Germline - 14/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 14 Mohammed Faruq
?/. - c.161T>C r.(?) p.(Ile54Thr) Unknown - VUS g.43810080A>G g.42389971A>G - - TMPRSS3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.208del r.(?) p.(His70Thrfs*19) Unknown - pathogenic g.43809153del g.42389044del 208delC - TMPRSS3_000004 - PubMed: Baux 2017, Journal: Baux 2017 - rs727503493 Germline/De novo (untested) - - - - - DNA QMPSF, SEQ, SEQ-NG-I - Quantitative Multiplex PCR of Short Fluorescent fragments deafness S1802 PubMed: Baux 2017, Journal: Baux 2017 Proband F no France - - - - - 1 David Baux
+/. - c.208del r.(?) p.(His70ThrfsTer19) Unknown - pathogenic g.43809153del g.42389044del TMPRSS3(NM_024022.2):c.208delC (p.H70Tfs*19) - TMPRSS3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.208del r.(?) p.(His70ThrfsTer19) Unknown - pathogenic g.43809153del g.42389044del TMPRSS3(NM_024022.2):c.208delC (p.H70Tfs*19) - TMPRSS3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.208del r.(?) p.(His70Thrfs*19) Parent #1 - pathogenic g.43809153del g.42389044del - - TMPRSS3_000004 - MORL Deafness Variation Database, PubMed: Weegerink 2011, PubMed: Kecmanovi? 2009, PubMed: Ahmed 2004, PubMed: Shearer 1993, PubMed: Lee 2012, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Weegerink 2011, PubMed: Kecmanovi? 2009, PubMed: Ahmed 2004, PubMed: Shearer 1993, PubMed: Lee 2012, PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.208del r.(?) p.(His70Thrfs*19) Parent #1 - pathogenic (recessive) g.43809152del - - - TMPRSS3_000004 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HL HL022 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - 1 Johan den Dunnen
+/. - c.208del r.(?) p.(His70ThrfsTer19) Both (homozygous) - pathogenic (recessive) g.43809153del g.42389044del 208delC - TMPRSS3_000004 - PubMed: Wattenhofer 2002, PubMed: Naz 2017 - rs727503493 Germline - - - - - DNA SEQ, SEQ-NG - - HL HLAI-13 PubMed: Wattenhofer 2002, PubMed: Naz 2017 family, 5 affected - - Pakistan Punjab - - - - 5 Johan den Dunnen
?/. - c.212T>C r.(?) p.(Phe71Ser) Parent #1 - VUS g.43809148A>G g.42389039A>G - - TMPRSS3_000109 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs185332310 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.212T>C r.(?) p.(Phe71Ser) Unknown - likely benign g.43809148A>G - - - TMPRSS3_000109 - - - rs185332310 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.213C>T r.(?) p.(Phe71=) Unknown - likely benign g.43809147G>A g.42389038G>A TMPRSS3(NM_024022.2):c.213C>T (p.F71=) - TMPRSS3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.234A>C r.(?) p.(Arg78Ser) Parent #1 - VUS g.43809126T>G g.42389017T>G - - TMPRSS3_000107 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 4 c.239G>A r.(?) p.(Arg80His) Parent #1 - likely benign g.43809121C>T g.42389012C>T - - TMPRSS3_000106 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 4 c.257T>A r.(?) p.(Ile86Asn) Parent #1 - VUS g.43809103A>T g.42388994A>T - - TMPRSS3_000105 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.268G>A r.(?) p.(Ala90Thr) Unknown - benign g.43809092C>T g.42388983C>T - - TMPRSS3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.268G>A r.(?) p.(Ala90Thr) Parent #1 - benign g.43809092C>T g.42388983C>T - - TMPRSS3_000027 35 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45598239 Germline - 35/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 35 Mohammed Faruq
?/. - c.271C>T r.(?) p.(Arg91Ter) Unknown - VUS g.43809089G>A g.42388980G>A TMPRSS3(NM_024022.2):c.271C>T (p.R91*) - TMPRSS3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.271C>T r.(?) p.(Arg91Ter) Both (homozygous) - pathogenic (recessive) g.43809089G>A g.42388980G>A - - TMPRSS3_000014 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4020 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.271C>T r.(?) p.(Arg91Ter) Both (homozygous) - pathogenic (recessive) g.43809089G>A g.42388980G>A - - TMPRSS3_000014 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1053 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.271C>T r.(?) p.(Arg91Ter) Unknown - pathogenic g.43809089G>A - TMPRSS3(NM_024022.2):c.271C>T (p.R91*) - TMPRSS3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.272G>A r.(?) p.(Arg91Gln) Parent #1 - VUS g.43809088C>T g.42388979C>T - - TMPRSS3_000104 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 4 c.279C>T r.(=) p.(=) Parent #1 - likely benign g.43809081G>A g.42388972G>A - - TMPRSS3_000103 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.280G>A r.(?) p.(Gly94Arg) Unknown - likely pathogenic g.43809080C>T g.42388971C>T TMPRSS3(NM_024022.2):c.280G>A (p.G94R) - TMPRSS3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.280G>A r.(?) p.(Gly94Arg) Parent #1 - pathogenic g.43809080C>T g.42388971C>T - - TMPRSS3_000013 - MORL Deafness Variation Database, PubMed: Miyagawa 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Miyagawa 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.280G>T r.(?) p.(Gly94*) Unknown - pathogenic g.43809080C>A - TMPRSS3(NM_024022.2):c.280G>T (p.G94*) - TMPRSS3_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.287C>T r.(?) p.(Ser96Leu) Unknown - likely benign g.43809073G>A g.42388964G>A TMPRSS3(NM_024022.2):c.287C>T (p.S96L) - TMPRSS3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.296A>G r.(?) p.(Lys99Arg) Unknown - VUS g.43809064T>C g.42388955T>C TMPRSS3(NM_024022.2):c.296A>G (p.K99R) - TMPRSS3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.298G>C r.(?) p.(Asp100His) Parent #1 - VUS g.43809062C>G g.42388953C>G - - TMPRSS3_000102 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 4 c.300C>T r.(=) p.(=) Parent #1 - likely benign g.43809060G>A g.42388951G>A - - TMPRSS3_000101 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.308A>G r.(?) p.(Asp103Gly) Parent #1 - pathogenic g.43809052T>C g.42388943T>C - - TMPRSS3_000100 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Wattenhofer 2002, PubMed: Lee 2003 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Shearer 1993, PubMed: Wattenhofer 2002, PubMed: Lee 2003 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 4 c.309C>T r.(=) p.(=) Parent #1 - likely benign g.43809051G>A g.42388942G>A - - TMPRSS3_000099 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.310G>A r.(?) p.(Glu104Lys) Parent #1 - pathogenic g.43809050C>T g.42388941C>T - - TMPRSS3_000098 - MORL Deafness Variation Database, PubMed: Lee 2012 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Lee 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 4 c.310G>T r.(?) p.(Glu104*) Parent #1 - pathogenic g.43809050C>A g.42388941C>A - - TMPRSS3_000097 - MORL Deafness Variation Database, PubMed: Lee 2012 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Lee 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.316C>T r.(?) p.(Arg106Cys) Unknown - likely pathogenic g.43809044G>A g.42388935G>A TMPRSS3(NM_024022.2):c.316C>T (p.R106C) - TMPRSS3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.316C>T r.(?) p.(Arg106Cys) Parent #1 - pathogenic g.43809044G>A g.42388935G>A - - TMPRSS3_000011 - MORL Deafness Variation Database, PubMed: Miyagawa 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Miyagawa 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.316C>T r.(?) p.(Arg106Cys) Parent #1 - likely pathogenic g.43809044G>A g.42388935G>A - - TMPRSS3_000011 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139805921 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.316C>T r.(?) p.(Arg106Cys) Unknown - likely pathogenic g.43809044G>A - - - TMPRSS3_000011 - - - rs139805921 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.323-6G>A r.(=) p.(=) Unknown - likely pathogenic g.43808641C>T g.42388532C>T TMPRSS3(NM_024022.2):c.323-6G>A - TMPRSS3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4i c.323-6G>A r.spl p.(Val108AlafsTer132) Parent #1 - pathogenic g.43808641C>T g.42388532C>T - - TMPRSS3_000010 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Shearer 1993, PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.323-6G>A r.(=) p.(=) Parent #1 - pathogenic g.43808641C>T g.42388532C>T - - TMPRSS3_000010 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs374793617 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.323-6G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.43808641C>T g.42388532C>T - - TMPRSS3_000010 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4003 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.323-6G>A r.spl p.(Val108AlafsTer26) Both (homozygous) - pathogenic (recessive) g.43808641C>T g.42388532C>T - - TMPRSS3_000010 - PubMed: Scott 2001, PubMed: Naz 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL HLM1 PubMed: Scott 2001, PubMed: Naz 2017 family, 5 affected - - Pakistan Punjab - - - - 5 Johan den Dunnen
+/. - c.323-6G>A r.spl p.(Val108AlafsTer26) Both (homozygous) - pathogenic (recessive) g.43808641C>T g.42388532C>T - - TMPRSS3_000010 - PubMed: Scott 2001, PubMed: Naz 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL HLMI02 PubMed: Scott 2001, PubMed: Naz 2017 family, 4 affected - - Pakistan Punjab - - - - 4 Johan den Dunnen
+/. - c.325C>T r.(?) p.(Arg109Trp) Unknown - pathogenic g.43808633G>A g.42388524G>A TMPRSS3(NM_024022.2):c.325C>T (p.R109W) - TMPRSS3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.325C>T r.(?) p.(Arg109Trp) Parent #1 - pathogenic g.43808633G>A g.42388524G>A - - TMPRSS3_000039 - MORL Deafness Variation Database, PubMed: Guipponi 2002, PubMed: Shearer 1993, PubMed: Andreasen 2006, PubMed: Duzkale 2013, PubMed: Ben-Yosef 2001, PubMed: Lee 2003 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Guipponi 2002, PubMed: Shearer 1993, PubMed: Andreasen 2006, PubMed: Duzkale 2013, PubMed: Ben-Yosef 2001, PubMed: Lee 2003 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.331G>A r.(?) p.(Gly111Ser) Unknown - benign g.43808627C>T g.42388518C>T TMPRSS3(NM_024022.2):c.331G>A (p.G111S) - TMPRSS3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.331G>A r.(?) p.(Gly111Ser) Unknown - benign g.43808627C>T g.42388518C>T TMPRSS3(NM_024022.2):c.331G>A (p.G111S) - TMPRSS3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 5 c.333T>C r.(=) p.(=) Parent #1 - likely benign g.43808625A>G g.42388516A>G - - TMPRSS3_000096 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 5 c.346G>A r.(?) p.(Val116Met) Parent #1 - pathogenic g.43808612C>T g.42388503C>T - - TMPRSS3_000095 - MORL Deafness Variation Database, PubMed: Ganapathy 2014 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Ganapathy 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.346G>A r.(?) p.(Val116Met) Maternal (confirmed) ACMG pathogenic (recessive) g.43808612C>T - - - TMPRSS3_000095 - PubMed: Batissoco 2021 ClinVar-SCV001792229 - Germline yes - - - - DNA SEQ - - HL T2 PubMed: Batissoco 2021 - M no Brazil - - - - - 1 Karina Lezirovitz Mandelbaum
+?/. - c.346G>A r.(?) p.(Val116Met) Unknown - likely pathogenic g.43808612C>T - - - TMPRSS3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 5 c.347T>C r.(?) p.(Val116Ala) Parent #1 - likely benign g.43808611A>G g.42388502A>G - - TMPRSS3_000094 - MORL Deafness Variation Database, PubMed: Bonnet 2011, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Bonnet 2011, PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.371C>T r.(?) p.(Ser124Leu) Unknown - VUS g.43808587G>A g.42388478G>A TMPRSS3(NM_024022.2):c.371C>T (p.S124L) - TMPRSS3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 5 c.412G>A r.(?) p.(Ala138Thr) Parent #1 - VUS g.43808546C>T g.42388437C>T - - TMPRSS3_000093 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. 5 c.413C>A r.(?) p.(Ala138Glu) Both (homozygous) - likely pathogenic g.43808545G>T g.42388436G>T - - TMPRSS3_000003 - PubMed: Baux 2017, Journal: Baux 2017 - rs147231991 Germline yes - - - - DNA SEQ, SEQ-NG-I - gene panel deafness S1541 PubMed: Baux 2017, Journal: Baux 2017 Proband M ? France - - - - - 1 David Baux
+/. - c.413C>A r.(?) p.(Ala138Glu) Unknown - pathogenic g.43808545G>T g.42388436G>T TMPRSS3(NM_001256317.3):c.413C>A (p.(Ala138Glu)), TMPRSS3(NM_024022.2):c.413C>A (p.A138E) - TMPRSS3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.413C>A r.(?) p.(Ala138Glu) Unknown - pathogenic g.43808545G>T g.42388436G>T TMPRSS3(NM_001256317.3):c.413C>A (p.(Ala138Glu)), TMPRSS3(NM_024022.2):c.413C>A (p.A138E) - TMPRSS3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.413C>A r.(?) p.(Ala138Glu) Parent #1 - pathogenic g.43808545G>T g.42388436G>T - - TMPRSS3_000003 - MORL Deafness Variation Database, PubMed: Hutchin 2005, PubMed: Eppsteiner 2012 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Hutchin 2005, PubMed: Eppsteiner 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.413C>A r.(?) p.(Ala138Glu) Parent #1 - likely pathogenic g.43808545G>T g.42388436G>T - - TMPRSS3_000003 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147231991 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/. - c.413C>A r.(?) p.(Ala138Glu) Paternal (confirmed) ACMG pathogenic (recessive) g.43808545G>T - - - TMPRSS3_000003 - PubMed: Batissoco 2021 ClinVar-SCV001792230 - Germline yes - - - - DNA SEQ - - HL T2 PubMed: Batissoco 2021 - M no Brazil - - - - - 1 Karina Lezirovitz Mandelbaum
+/. - c.413C>A r.(?) p.(Ala138Glu) Unknown - pathogenic g.43808545G>T - TMPRSS3(NM_001256317.3):c.413C>A (p.(Ala138Glu)), TMPRSS3(NM_024022.2):c.413C>A (p.A138E) - TMPRSS3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.413C>A r.(?) p.(Ala138Glu) Unknown - pathogenic (recessive) g.43808545G>T g.42388436G>T - - TMPRSS3_000003 - PubMed: Erkut 2025, Journal: Erkut 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat5 PubMed: Erkut 2025, Journal: Erkut 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.432del r.(?) p.(Gln144Hisfs*8) Both (homozygous) ACMG pathogenic (recessive) g.43808527del g.42388418del 432delA - TMPRSS3_000121 - PubMed: Sang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HL FamM21968 PubMed: Sang 2019 - - - China - - - - - 1 Johan den Dunnen
+/. - c.432del r,(?) p.(Gln144HisfsTer8) Parent #1 - pathogenic (recessive) g.43808527del g.42388418del 432delA - TMPRSS3_000121 combination of alleles not reported PubMed: Wu 2019 - - Germline - 1/1291 cases hearing loss - - - DNA SEQ, SEQ-NG - 213-gene panel HL - PubMed: Wu 2019 analysis 1291 cases hearing loss - - Taiwan - - - - - 1 Johan den Dunnen
?/. - c.436G>A r.(?) p.(Gly146Ser) Unknown - VUS g.43808522C>T g.42388413C>T - - TMPRSS3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 5i c.446+4A>T r.spl? p.? Parent #1 - VUS g.43808508T>A g.42388399T>A - - TMPRSS3_000092 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 5i c.446+9A>G r.(=) p.(=) Parent #1 - likely benign g.43808503T>C g.42388394T>C - - TMPRSS3_000091 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.447-13A>G r.(=) p.(=) Unknown - benign g.43805656T>C g.42385547T>C TMPRSS3(NM_024022.4):c.447-13A>G - TMPRSS3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.447-13A>G r.(=) p.(=) Unknown - benign g.43805656T>C g.42385547T>C TMPRSS3(NM_024022.4):c.447-13A>G - TMPRSS3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.453G>A r.(?) p.(Val151=) Unknown - benign g.43805637C>T g.42385528C>T TMPRSS3(NM_024022.4):c.453G>A (p.V151=) - TMPRSS3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.453G>A r.(?) p.(Val151=) Unknown - benign g.43805637C>T g.42385528C>T TMPRSS3(NM_024022.4):c.453G>A (p.V151=) - TMPRSS3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.479C>T r.(?) p.(Ser160Leu) Unknown - likely benign g.43805611G>A - TMPRSS3(NM_024022.2):c.479C>T (p.S160L) - TMPRSS3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.496C>T r.(?) p.(Arg166Trp) Unknown - VUS g.43805594G>A - - - TMPRSS3_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.496C>T r.(?) p.(Arg166Trp) Unknown - VUS g.43805594G>A - - - TMPRSS3_000116 - - - rs781395690 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.496C>T r.(?) p.(Arg166Trp) Unknown - likely pathogenic g.43805594G>A - - - TMPRSS3_000116 - - - rs781395690 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.497G>T r.(?) p.(Arg166Leu) Unknown - likely benign g.43805593C>A g.42385484C>A TMPRSS3(NM_024022.2):c.497G>T (p.R166L) - TMPRSS3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 6 c.497G>T r.(?) p.(Arg166Leu) Parent #1 - VUS g.43805593C>A g.42385484C>A - - TMPRSS3_000043 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 6 c.535G>A r.(?) p.(Asp179Asn) Parent #1 - pathogenic g.43805555C>T g.42385446C>T - - TMPRSS3_000090 - MORL Deafness Variation Database, PubMed: Fan 2014 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Fan 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.551T>C r.(?) p.(Leu184Ser) Both (homozygous) ACMG likely pathogenic (recessive) g.43805539A>G g.42385430A>G - - TMPRSS3_000120 - PubMed: Sang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel HL FamHL533 PubMed: Sang 2019 - - - China - - - - - 1 Johan den Dunnen
+/+ 6 c.554A>T r.(?) p.(His185Leu) Parent #1 - pathogenic g.43805536T>A g.42385427T>A - - TMPRSS3_000089 - MORL Deafness Variation Database, PubMed: Miyagawa 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Miyagawa 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.579dup r.(?) p.(Cys194MetfsTer17) Unknown - pathogenic g.43804116dup g.42384007dup TMPRSS3(NM_024022.2):c.579dupA (p.C194Mfs*17) - TMPRSS3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.579dup r.(?) p.(Cys194Metfs*17) Parent #1 - pathogenic g.43804116dup g.42384007dup - - TMPRSS3_000042 - MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - deafness - - - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 7 c.580_581insA r.(?) p.(Cys194*) Parent #1 - pathogenic g.43804114_43804115insT g.42384005_42384006insT - - TMPRSS3_000088 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Shearer 1993, PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 7 c.581G>T r.(?) p.(Cys194Phe) Parent #1 - pathogenic g.43804114C>A g.42384005C>A - - TMPRSS3_000087 - MORL Deafness Variation Database, PubMed: Ben-Yosef 2001, PubMed: Lee 2003 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Ben-Yosef 2001, PubMed: Lee 2003 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.581G>T r.(?) p.(Cys194Phe) Both (homozygous) - pathogenic (recessive) g.43804114C>A g.42384005C>A - - TMPRSS3_000087 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKSR31 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/+ 7 c.582T>A r.(?) p.(Cys194*) Parent #1 - pathogenic g.43804113A>T g.42384004A>T - - TMPRSS3_000086 - MORL Deafness Variation Database, PubMed: Shahin 2010, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Shahin 2010, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
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