Full data view for gene GJB3

Information The variants shown are described using the NM_024009.2 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
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Effect     

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AscendingDNA change (cDNA)     

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Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

dbSNP ID     

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Methylation     

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Technique     

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ID_report     

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-/- 1i c.-25-477_-25-474del r.(?) p.(=) Unknown - benign g.35249862_35249865del g.34784261_34784264del 632del4 - GJB3_000015 - PubMed: Lopez-Bigas 2000 - - Unknown ? 15/110 cases - - - DNA SEQ - - neuropathy, peripheral - - - - - - - - - - - 15 Johan den Dunnen
-/- 1i c.-25-477_-25-474del r.(?) p.(=) Unknown - benign g.35249862_35249865del g.34784261_34784264del 632del4 - GJB3_000015 - PubMed: Lopez-Bigas 2000 - - Unknown ? 14/103 controls - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 14 Johan den Dunnen
-/- 1i c.-25-427_-25-426del r.(=) p.(=) Unknown - benign g.35249912_35249913del g.34784311_34784312del 581del2 - GJB3_000014 - PubMed: Lopez-Bigas 2000 - - Unknown ? 33/110 cases - - - DNA SEQ - - neuropathy, peripheral - - - - - - - - - - - 33 Johan den Dunnen
-/- 1i c.-25-427_-25-426del r.(=) p.(=) Unknown - benign g.35249912_35249913del g.34784311_34784312del 581del2 - GJB3_000014 - PubMed: Lopez-Bigas 2000 - - Unknown ? 30/103 controls - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 30 Johan den Dunnen
?/. - c.-25G>C r.(?) p.(=) Unknown - VUS g.35250339G>C - GJB3(NM_024009.2):c.-25G>C (p.?) - GJB3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.33C>T r.(?) p.(=) Unknown - likely benign g.35250396C>T - GJB3(NM_024009.3):c.33C>T (p.S11=) - GJB3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.34G>A r.(?) p.(Gly12Ser) Parent #1 - pathogenic g.35250397G>A g.34784796G>A G12S - GJB3_000022 - PubMed: Richard 2001 - - Unknown ? - - - - DNA SEQ - - EKVP1 - - - - - - - - - - - 1 Michel van Geel
+/. - c.34G>A r.(?) p.(Gly12Ser) Unknown - pathogenic g.35250397G>A - - - GJB3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.34G>C r.(?) p.(Gly12Arg) Parent #1 - pathogenic g.35250397G>C g.34784796G>C - - GJB3_000003 - PubMed: Richard 1998, OMIM:var0001 - - Unknown ? - - - - DNA SEQ - - EKVP1 - - - - - - - - - - - 1 Michel van Geel
+/. 2 c.35G>A r.(?) p.(Gly12Asp) Parent #1 - pathogenic g.35250398G>A g.34784797G>A - - GJB3_000004 - PubMed: Richard 1998, OMIM:var0002 - - Unknown ? - - - - DNA SEQ - - EKVP1 - - - - - - - - - - - 1 Michel van Geel
?/. - c.48C>A r.(?) p.(Tyr16Ter) Unknown - VUS g.35250411C>A g.34784810C>A - - GJB3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.64C>T r.(?) p.(Arg22Cys) Unknown - VUS g.35250427C>T - GJB3(NM_024009.3):c.64C>T (p.(Arg22Cys)) - GJB3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.69C>G r.(?) p.(Ile23Met) Unknown - VUS g.35250432C>G - GJB3(NM_024009.3):c.69C>G (p.(Ile23Met)) - GJB3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.70T>C r.(?) p.(Trp24Arg) Unknown - VUS g.35250433T>C - - - GJB3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.76T>A r.(?) p.(ser26Thr) Parent #1 - pathogenic g.35250439T>A g.34784838T>A S26T - GJB3_000024 - PubMed: Richard 2001 - - Unknown ? - - - - DNA SEQ - - EKVP1 - - - - - - - - - - - 1 Michel van Geel
?/. - c.79G>A r.(?) p.(Val27Met) Unknown - VUS g.35250442G>A - GJB3(NM_024009.3):c.79G>A (p.V27M) - GJB3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.94C>T r.(?) p.(Arg32Trp) Unknown - benign g.35250457C>T g.34784856C>T - - GJB3_000011 - PubMed: Kelsell 2000 - rs1805063 Unknown ? - - - - DNA SEQ - - DFNA1 - - - - - - - - - - - 1 Johan den Dunnen
-/- 2 c.94C>T r.(?) p.(Arg32Trp) Unknown - benign g.35250457C>T g.34784856C>T - - GJB3_000011 - PubMed: Lopez-Bigas 2000 - rs1805063 Unknown ? 2/110 controls - - - DNA SEQ - - neuropathy, peripheral - - - - - - - - - - - 2 Johan den Dunnen
-/- 2 c.94C>T r.(?) p.(Arg32Trp) Unknown - benign g.35250457C>T g.34784856C>T - - GJB3_000011 - PubMed: Lopez-Bigas 2000 - rs1805063 Unknown ? 7/153 cases - - - DNA SEQ - - deafness - - - - - - - - - - - 7 Johan den Dunnen
-/- 2 c.94C>T r.(?) p.(Arg32Trp) Unknown - benign g.35250457C>T g.34784856C>T - - GJB3_000011 - PubMed: Lopez-Bigas 2000 - rs1805063 Unknown ? 8/46 controls - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 8 Johan den Dunnen
-/. - c.94C>T r.(?) p.(Arg32Trp) Unknown - benign g.35250457C>T g.34784856C>T GJB3(NM_024009.3):c.94C>T (p.R32W) - GJB3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.94C>T r.(?) p.(Arg32Trp) Unknown - benign g.35250457C>T g.34784856C>T GJB3(NM_024009.3):c.94C>T (p.R32W) - GJB3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.94C>T r.(?) p.(Arg32Trp) Unknown - likely benign g.35250457C>T g.34784856C>T - - GJB3_000011 - PubMed: Eisenberger 2018 - rs1805063 Germline - - - - - DNA SEQ-NG-I - - DFNA FamPatIV2 PubMed: Eisenberger 2018 4-generation family, 8 affected (4F, 4M) M no Germany white - - - - 8 Hanno Bolz
+/. 2 c.101T>C r.(?) p.(Leu34Pro) Parent #1 - pathogenic g.35250464T>C g.34784863T>C - - GJB3_000026 - PubMed: Gottfried 2002 - rs28937583 Unknown ? - - - - DNA SEQ - - EKVP1 - - - - - - - - - - - 1 Michel van Geel
+/. 2 c.101T>C r.(?) p.(Leu34Pro) Parent #2 - pathogenic g.35250464T>C g.34784863T>C - - GJB3_000026 - PubMed: Gottfried 2002 - rs28937583 Unknown ? - - - - DNA SEQ - - EKVP1 - - - - - - - - - - - 1 Michel van Geel
?/. 2 c.124C>T r.(?) p.(Arg42Cys) Maternal (confirmed) ACMG VUS g.35250487C>T - - - GJB3_000052 inherited from unaffected mother PubMed: Sampaio-Silva 2018 - rs976148533 Germline no - - - - DNA SEQ, SEQ-NG-IT Blood - HL III:1 PubMed: Sampaio-Silva 2018 - F no Brazil Brazilian admixed >34y - - - 12 Karina Lezirovitz Mandelbaum
+/. 2 c.125G>C r.(?) p.(Arg42Pro) Parent #1 - pathogenic g.35250488G>C g.34784887G>C - - GJB3_000006 - PubMed: Richard 1998, OMIM:var0008 - - Unknown ? - - - - DNA SEQ - - EKVP1 - - - - - - - - - - - 1 Michel van Geel
+/. 2 c.125G>C r.(?) p.(Arg42Pro) Parent #1 - pathogenic g.35250488G>C g.34784887G>C - - GJB3_000006 - PubMed: Richard 2000 - - Unknown ? - - - - DNA SEQ - - EKVP1 - - - - - - - - - - - 1 Michel van Geel
+/. 2 c.125G>C r.(?) p.(Arg42Pro) Parent #1 - pathogenic g.35250488G>C g.34784887G>C - - GJB3_000006 - PubMed: Wilgoss 1999, OMIM:var0008 - - Unknown ? - - - - DNA SEQ - - EKVP1 - - - - - - - - - - - 1 Michel van Geel
+/. 2 c.134G>A r.(?) p.(Gly45Glu) Parent #1 - pathogenic g.35250497G>A g.34784896G>A G45E - GJB3_000023 - PubMed: Richard 2001 - - Unknown ? - - - - DNA SEQ - - EKVP1 - - - - - - - - - - - 1 Michel van Geel
-?/. - c.186C>T r.(?) p.(=) Unknown - likely benign g.35250549C>T - GJB3(NM_024009.3):c.186C>T (p.N62=) - GJB3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.187G>A r.(?) p.(Val63Ile) Unknown - likely benign g.35250550G>A g.34784949G>A GJB3(NM_024009.2):c.187G>A (p.V63I) - GJB3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.196_198del r.(?) p.(Asp66del) Parent #1 - pathogenic g.35250559_35250561del g.34784958_34784960del - - GJB3_000021 - PubMed: Lopez-Bigas 2001, OMIM:var0009 - - Germline yes - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Michel van Geel
?/. - c.196_198del r.(?) p.(Asp66del) Unknown - VUS g.35250559_35250561del - GJB3(NM_024009.3):c.196_198del (p.(Asp66del)) - GJB3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.197A>G r.(?) p.(Asp66Gly) Unknown - VUS g.35250560A>G - GJB3(NM_024009.3):c.197A>G (p.D66G) - GJB3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.250G>A r.(?) p.(Val84Ile) Unknown - likely pathogenic (dominant) g.35250613G>A g.34785012G>A c.G250A - GJB3_000036 rs145751680 PubMed: Choi 2013 - - Germline - - - - - DNA SEQ - - HL SH40-89 PubMed: Choi 2013 family, 2 affected - - Korea - - - - - 2 Johan den Dunnen
?/. - c.250G>A r.(?) p.(Val84Ile) Unknown - VUS g.35250613G>A - GJB3(NM_024009.3):c.250G>A (p.(Val84Ile)) - GJB3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.256T>A r.(?) p.(Cys86Ser) Parent #1 - pathogenic g.35250619T>A g.34785018T>A - - GJB3_000005 - PubMed: Richard 1998, OMIM:var0003 - - Unknown ? - - - - DNA SEQ - - EKVP1 - - - - - - - - - - - 1 Michel van Geel
-?/. - c.264G>A r.(?) p.(Ser88=) Unknown - likely benign g.35250627G>A g.34785026G>A GJB3(NM_024009.3):c.264G>A (p.S88=) - GJB3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.264G>A r.(?) p.(Ser88=) Unknown - likely benign g.35250627G>A g.34785026G>A GJB3(NM_024009.3):c.264G>A (p.S88=) - GJB3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.268C>A r.(?) p.(Leu90Met) Unknown - VUS g.35250631C>A - GJB3(NM_024009.3):c.268C>A (p.(Leu90Met)) - GJB3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.290A>C r.(?) p.(Tyr97Ser) Unknown - likely benign g.35250653A>C g.34785052A>C - - GJB3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.311G>A r.(?) p.(Arg104Gln) Unknown - VUS g.35250674G>A - GJB3(NM_024009.3):c.311G>A (p.R104Q) - GJB3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.313C>A r.(?) p.(His105Asn) Unknown - benign g.35250676C>A - GJB3(NM_024009.3):c.313C>A (p.H105N) - GJB3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.357C>T r.(?) p.(=) Unknown - benign g.35250720C>T g.34785119C>T N119N - GJB3_000012 - PubMed: Richard 2000 - - Unknown ? 0.3 - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Johan den Dunnen
-/. - c.357C>T r.(?) p.(Asn119=) Unknown - benign g.35250720C>T g.34785119C>T GJB3(NM_024009.3):c.357C>T (p.N119=) - GJB3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.357C>T r.(?) p.(Asn119=) Unknown - benign g.35250720C>T g.34785119C>T GJB3(NM_024009.3):c.357C>T (p.N119=) - GJB3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.409T>C r.(?) p.(Phe137Leu) Parent #1 - pathogenic g.35250772T>C g.34785171T>C - - GJB3_000019 de novo, in patient PubMed: Richard 2000 - - De novo - - - - - DNA SEQ - - EKVP1 - - - - - - - - - - - 1 Michel van Geel
+/. 2 c.421A>G r.(?) p.(Ile141Val) Maternal (confirmed) - pathogenic g.35250784A>G g.34785183A>G - - GJB3_000010 - PubMed: Liu 2000, OMIM:var0007 - - Unknown yes - - - - DNA SEQ - - DFNA1 - - 2-generation family, 2 affecteds - - China - - - - - 3 Michel van Geel
+/. 2 c.421A>G r.(?) p.(Ile141Val) Paternal (confirmed) - pathogenic g.35250784A>G g.34785183A>G - - GJB3_000010 - PubMed: Liu 2000, OMIM:var0007 - - Unknown yes - - - - DNA SEQ - - DFNA1 - - 2-generation family, 1 affected - - China - - - - - 2 Michel van Geel
+/. 2 c.421_423del r.(?) p.(Ile141del) Paternal (confirmed) - pathogenic g.35250784_35250786del g.34785183_34785185del - - GJB3_000009 - PubMed: Liu 2000, OMIM:var0006 - - Unknown yes - - - - DNA SEQ - - DFNA1 - - 2-generation family, 2 affecteds - - China - - - - - 3 Michel van Geel
+/. 2 c.421_423del r.(?) p.(Ile141del) Maternal (confirmed) - pathogenic g.35250784_35250786del g.34785183_34785185del - - GJB3_000009 - PubMed: Liu 2000, OMIM:var0006 - - Unknown yes - - - - DNA SEQ - - DFNA1 - - 2-generation family, 1 affected - - China - - - - - 2 Michel van Geel
?/. - c.422_423insCA r.(?) p.(Glu142Metfs*127) Unknown - VUS g.35250785_35250786insCA - GJB3(NM_024009.3):c.422_423insCA (p.(Glu142MetfsTer127)) - GJB3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.424dup r.(?) p.(Glu142Glyfs*64) Unknown - VUS g.35250787dup - GJB3(NM_024009.3):c.424dup (p.(Glu142GlyfsTer64)) - GJB3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.476C>T r.(?) p.(Pro159Leu) Unknown - VUS g.35250839C>T - GJB3(NM_024009.3):c.476C>T (p.(Pro159Leu)) - GJB3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.477G>A r.(?) p.(=) Unknown - benign g.35250840G>A g.34785239G>A P159P - GJB3_000016 not in 92 control chromosomes PubMed: Lopez-Bigas 2000 - - Unknown ? 24/153 cases - - - DNA SEQ - - deafness - - - - - - - - - - - 24 Johan den Dunnen
-/- 2 c.477G>A r.(?) p.(=) Unknown - benign g.35250840G>A g.34785239G>A P159P - GJB3_000016 not in 92 control chromosomes PubMed: Lopez-Bigas 2000 - - Unknown ? 6/46 controls - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 6 Johan den Dunnen
-/. - c.477G>A r.(?) p.(Pro159=) Unknown - benign g.35250840G>A g.34785239G>A GJB3(NM_024009.3):c.477G>A (p.P159=) - GJB3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.478C>T r.(?) p.(Arg160Cys) Unknown - VUS g.35250841C>T - GJB3(NM_024009.3):c.478C>T (p.(Arg160Cys)) - GJB3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.479G>A r.(?) p.(Arg160His) Unknown - likely benign g.35250842G>A g.34785241G>A GJB3(NM_024009.3):c.479G>A (p.R160H) - GJB3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.479G>A r.(?) p.(Arg160His) Unknown - likely benign g.35250842G>A - GJB3(NM_024009.3):c.479G>A (p.R160H) - GJB3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.497A>G r.(?) p.(Asn166Ser) Parent #1 - pathogenic g.35250860A>G g.34785259A>G - - GJB3_000033 GJB2 1 bp deletion; possible di-genic inheritance PubMed: Liu 2009 - - Unknown ? - - - - DNA SEQ - - DFNA1 - - - - - - - - - - - 1 Michel van Geel
-/. - c.529T>G r.(?) p.(Tyr177Asp) Unknown - benign g.35250892T>G - GJB3(NM_024009.3):c.529T>G (p.Y177D) - GJB3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.538C>T r.(?) p.(Arg180*) Parent #1 - pathogenic g.35250901C>T g.34785300C>T - - GJB3_000008 - PubMed: Xia 1998, OMIM:var0005 - - Germline yes - - - - DNA SEQ - - DFNA1 - - - - - - - - - - - 1 Michel van Geel
+/. 2 c.547G>A r.(?) p.(Glu183Lys) Parent #1 - pathogenic g.35250910G>A g.34785309G>A - - GJB3_000007 - PubMed: Xia 1998, OMIM:var0004 - - Germline yes - - - - DNA SEQ - - DFNA1 - - - - - - - - - - - 1 Michel van Geel
-/- 2 c.567C>T r.(?) p.(=) Unknown - benign g.35250930C>T g.34785329C>T Y189Y - GJB3_000017 not in 92 control chromosomes PubMed: Lopez-Bigas 2000 - - Unknown ? 1/110 cases - - - DNA SEQ - - neuropathy, peripheral - - - - - - - - - - - 1 Johan den Dunnen
-/- 2 c.567C>T r.(?) p.(=) Unknown - benign g.35250930C>T g.34785329C>T Y189Y - GJB3_000017 not in 92 control chromosomes PubMed: Lopez-Bigas 2000 - - Unknown ? 3/153 cases - - - DNA SEQ - - deafness - - - - - - - - - - - 3 Johan den Dunnen
-/. - c.567C>T r.(?) p.(Tyr189=) Unknown - benign g.35250930C>T - GJB3(NM_024009.3):c.567C>T (p.Y189=) - GJB3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.579C>T r.(?) p.(Gly193=) Unknown - benign g.35250942C>T g.34785341C>T GJB3(NM_024009.2):c.579C>T (p.G193=), GJB3(NM_024009.3):c.579C>T (p.G193=) - GJB3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.579C>T r.(?) p.(Gly193=) Unknown - benign g.35250942C>T g.34785341C>T GJB3(NM_024009.2):c.579C>T (p.G193=), GJB3(NM_024009.3):c.579C>T (p.G193=) - GJB3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.580G>A r.(?) p.(Ala194Thr) Parent #1 - pathogenic g.35250943G>A g.34785342G>A - - GJB3_000034 GJB2 1 bp deletion; possible di-genic inheritance PubMed: Liu 2009 - - Unknown ? - - - - DNA SEQ - - DFNA1 - - - - - - - - - - - 1 Michel van Geel
-/. - c.580G>A r.(?) p.(Ala194Thr) Unknown - benign g.35250943G>A - GJB3(NM_024009.2):c.580G>A (p.(Ala194Thr)), GJB3(NM_024009.3):c.580G>A (p.A194T) - GJB3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.580G>A r.(?) p.(Ala194Thr) Unknown - VUS g.35250943G>A - GJB3(NM_024009.2):c.580G>A (p.(Ala194Thr)), GJB3(NM_024009.3):c.580G>A (p.A194T) - GJB3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.586G>A r.(?) p.(Ala196Thr) Unknown - VUS g.35250949G>A g.34785348G>A GJB3(NM_024009.3):c.586G>A (p.A196T) - GJB3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.597G>A r.(?) p.(Val200Ile) Unknown - benign g.35250960G>A g.34785359G>A - - GJB3_000018 not in 92 control chromosomes Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Lopez-Bigas 2000 - - Unknown ? 1/110 cases - - - DNA SEQ - - neuropathy, peripheral - - - - - - - - - - - 1 Johan den Dunnen
-/- 2 c.597G>A r.(?) p.(Val200Ile) Unknown - benign g.35250960G>A g.34785359G>A - - GJB3_000018 not in 92 control chromosomes Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Lopez-Bigas 2000 - - Unknown ? 3/153 cases - - - DNA SEQ - - deafness - - - - - - - - - - - 3 Johan den Dunnen
-?/. - c.598G>A r.(?) p.(Val200Ile) Unknown - likely benign g.35250961G>A g.34785360G>A GJB3(NM_024009.3):c.598G>A (p.V200I) - GJB3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.625C>T r.(?) p.(Leu209Phe) Parent #1 - pathogenic g.35250988C>T g.34785387C>T L209F - GJB3_000025 - PubMed: Richard 2001 - - Unknown ? - - - - DNA SEQ - - EKVP1 - - - - - - - - - - - 1 Michel van Geel
+/. 2 c.652_663del r.(?) p.(Leu218_Asp221del) Parent #2 - pathogenic g.35251015_35251026del g.34785414_34785425del - - GJB3_000020 - PubMed: Richard 2000 - - Unknown ? - - - - DNA SEQ - - EKVP1 - - - - - - - - - - - 1 Michel van Geel
+/. 2 c.667C>A r.(?) p.(Pro223Thr) Paternal (confirmed) - pathogenic g.35251030C>A g.34785429C>A - - GJB3_000027 - PubMed: Uyguner 2003 - - Unknown yes - - - - DNA SEQ - - DFNA1 - - 3-generation family, 2 affecteds, unaffected carrier father - - - - - - - - 3 Michel van Geel
+/. - c.667C>A r.(?) p.(Pro223Thr) Unknown - pathogenic g.35251030C>A - GJB3(NM_024009.2):c.667C>A (p.(Pro223Thr)) - GJB3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.670C>T r.(?) p.(Arg224*) Unknown - VUS g.35251033C>T - - - GJB3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.697G>A r.(?) p.(Ala233Thr) Unknown - likely benign g.35251060G>A g.34785459G>A GJB3(NM_024009.3):c.697G>A (p.A233T) - GJB3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.764C>G r.(?) p.(Pro255Arg) Unknown - VUS g.35251127C>G g.34785526C>G GJB3(NM_024009.3):c.764C>G (p.P255R) - GJB3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.778C>T r.(?) p.(Leu260=) Unknown - likely benign g.35251141C>T g.34785540C>T GJB3(NM_024009.2):c.778C>T (p.L260=) - GJB3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/? 2 c.798C>T r.(?) p.(=) Maternal (confirmed) - likely benign g.35251161C>T g.34785560C>T 801C>T (N267N) - GJB3_000028 - PubMed: Uyguner 2003 - - Unknown yes - - - - DNA SEQ - - DFNA1 - - 3-generation family, 2 affecteds, unaffected carrier father - - - - - - - - 3 Michel van Geel
-/. - c.798C>T r.(?) p.(Asn266=) Unknown - benign g.35251161C>T g.34785560C>T GJB3(NM_024009.3):c.798C>T (p.N266=) - GJB3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.798G>T r.(?) p.(=) Unknown - benign g.35251161G>T g.34785560G>T N266N - GJB3_000013 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Richard 2000 - - Unknown ? 0.1 - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Johan den Dunnen
-/- 2 c.798G>T r.(?) p.(=) Unknown - benign g.35251161G>T g.34785560G>T 1931C>T (N266N) - GJB3_000013 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Lopez-Bigas 2000 - - Unknown ? 6/110 cases - - - DNA SEQ - - neuropathy, peripheral - - - - - - - - - - - 6 Johan den Dunnen
-/- 2 c.798G>T r.(?) p.(=) Unknown - benign g.35251161G>T g.34785560G>T 1931C>T (N266N) - GJB3_000013 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Lopez-Bigas 2000 - - Unknown ? 1/110 cases - - - DNA SEQ - - deafness - - - - - - - - - - - 1 Johan den Dunnen
-/- 2 c.798G>T r.(?) p.(=) Unknown - benign g.35251161G>T g.34785560G>T 1931C>T (N266N) - GJB3_000013 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Lopez-Bigas 2000 - - Unknown ? 3/153 cases - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 3 Johan den Dunnen
-?/. - c.*13G>A r.(=) p.(=) Unknown - likely benign g.35251189G>A g.34785588G>A GJB3(NM_024009.3):c.*13G>A - GJB3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*43C>A r.(=) p.(=) Unknown - benign g.35251219C>A g.34785618C>A GJB3(NM_024009.3):c.*43C>A - GJB3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.856C>A r.(?) p.(=) Unknown - benign g.35251219C>A g.34785618C>A - - GJB3_000001 Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Richard 1998 - - Unknown ? 0.24 - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Johan den Dunnen
-/. - c.*53G>A r.(=) p.(=) Unknown - benign g.35251229G>A g.34785628G>A GJB3(NM_024009.3):c.*53G>A - GJB3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.866G>A r.(?) p.(=) Unknown - benign g.35251229G>A g.34785628G>A - - GJB3_000002 Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Richard 1998 - - Unknown ? 0.34 - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Johan den Dunnen
-/. - c.*369G>C r.(=) p.(=) Unknown - benign g.35251545G>C g.34785944G>C GJB3(NM_024009.3):c.*369G>C - GJB3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*493C>T r.(=) p.(=) Unknown - benign g.35251669C>T g.34786068C>T GJB3(NM_024009.3):c.*493C>T - GJB3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*559G>C r.(=) p.(=) Unknown - benign g.35251735G>C g.34786134G>C GJB3(NM_024009.3):c.*559G>C - GJB3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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