Full data view for gene GJB6

Information The variants shown are described using the NM_006783.4 transcript reference sequence.

91 entries on 1 page. Showing entries 1 - 91.
Legend   How to query  

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     
+/+ _1_3 c.-553_443{0} r.0 p.0 Parent #2 - pathogenic g.20797177_21105945del g.20223038_20531806del c.-301126_443del - GJB6_000016 disease caused by di-genic inheritance; 342 kb deletion PubMed: del Castillo 2002, Journal: del Castillo 2002, {OMIM - - Germline yes - - - - DNA PCR, SEQ, Southern - - DFNB1A - PubMed: del Castillo 2002, Journal: del Castillo 2002 2-generation family, affected mother and father (parents of daugthers II1/2) - no Spain - - - - - 2 Johan den Dunnen
+/+ _1_3 c.-553_443{0} r.0 p.0 Both (homozygous) - pathogenic g.20797177_21105945del g.20223038_20531806del c.-301126_443del - GJB6_000016 342 kb deletion PubMed: del Castillo 2002, Journal: del Castillo 2002, OMIM:var0004 - - Germline yes - - - - DNA PCR, SEQ, Southern - - DFNB1B - PubMed: del Castillo 2002, Journal: del Castillo 2002 2-generation family, affected sisters (parents I1/2) F no Spain - - - - - 1 Johan den Dunnen
+/. _1_3 c.-553_443{0} r.0? p.0? Both (homozygous) - pathogenic (recessive) g.20797177_21105945del g.20223038_20531806del del(GJB6-D13S1830), c.-301126_443del - GJB6_000016 - PubMed: del Castillo 2002 - - Germline - 1/210 cases (no GJB2 variant) - - - DNA PCR, SEQ - - deafness 11807148-PatSpa PubMed: del Castillo 2002 - - - Spain - - - - - 1 Johan den Dunnen
+/. _1_3 c.-553_443{0} r.0? p.0? Parent #1 - pathogenic (recessive) g.20797177_21105945del g.20223038_20531806del del(GJB6-D13S1830), c.-301126_443del - GJB6_000016 309 kb deletion; not in 400 control chromosomes PubMed: del Castillo 2002 - - Germline - 20/30 cases - - - DNA PCR, SEQ - - deafness 11807148-PatSpa PubMed: del Castillo 2002 - - - Spain - - - - - 19 Johan den Dunnen
+/. _1_3 c.-553_443{0} r.0? p.0? Parent #1 - pathogenic (recessive) g.20797177_21105945del g.20223038_20531806del del(GJB6-D13S1830), c.-301126_443del - GJB6_000016 - PubMed: del Castillo 2002 - - Germline - 2/3 cases - - - DNA PCR, SEQ - - deafness 11807148-PatCub PubMed: del Castillo 2002 - - - Cuba - - - - - 2 Johan den Dunnen
+?/. _1_3 c.-553_443{0} r.0? p.0? Parent #2 - pathogenic (recessive) g.20797177_21105945del g.20223038_20531806del del(GJB6-D13S1830), c.-301126_443del - GJB6_000016 - PubMed: Dalamon 2013 - - Germline - - - - - DNA SEQ blood - DFNB 24158611-Pat PubMed: Dalamon 2013 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Argentina - >30y - - - 1 Viviana Karina DalamĂ³n
+/. _1_3 c.-553_443{0} r.0? p.0? Parent #1 - pathogenic (recessive) g.20797177_21105945del g.20223038_20531806del c.-301126_443del - GJB6_000016 - PubMed: del Castillo 2005 - - Germline - - - - - DNA PCR, SEQ, Southern - - DFNB1B - PubMed: del Castillo 2005, Journal: del Castillo 2005 ARNSHI cases - - Spain - - - - - 1 Johan den Dunnen
+?/. _1_3 c.-553_443{0} r.0? p.0? Parent #1 - pathogenic (recessive) g.20797177_21105945del g.20223038_20531806del del(GJB6-D13S1830), c.-301126_443del - GJB6_000016 - PubMed: Dalamon 2013 - - Germline - 4/476 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 analysis 476 unrelated non-syndromic deaf individuals - - Argentina - - - - - 1 Viviana Karina DalamĂ³n
+?/. _1_3 c.-553_443{0} r.0? p.0? Parent #1 - pathogenic (recessive) g.20797177_21105945del g.20223038_20531806del del(GJB6-D13S1830), c.-301126_443del - GJB6_000016 - PubMed: Dalamon 2013 - - Germline - 4/476 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 analysis 476 unrelated non-syndromic deaf individuals - - Argentina - - - - - 1 Viviana Karina DalamĂ³n
+?/. _1_3 c.-553_443{0} r.0? p.0? Parent #1 - pathogenic (recessive) g.20797177_21105945del g.20223038_20531806del del(GJB6-D13S1830), c.-301126_443del - GJB6_000016 - PubMed: Dalamon 2013 - - Germline - 4/476 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 analysis 476 unrelated non-syndromic deaf individuals - - Argentina - - - - - 1 Viviana Karina DalamĂ³n
+?/. _1_3 c.-553_443{0} r.0? p.0? Parent #1 - pathogenic (recessive) g.20797177_21105945del g.20223038_20531806del del(GJB6-D13S1830), c.-301126_443del - GJB6_000016 - PubMed: Dalamon 2013 - - Germline - 4/476 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 analysis 476 unrelated non-syndromic deaf individuals - - Argentina - - - - - 1 Viviana Karina DalamĂ³n
+?/. _1_3 c.-553_443{0} r.0? p.0? Parent #1 - pathogenic (recessive) g.20797177_21105945del g.20223038_20531806del del(GJB6-D13S1830), c.-301126_443del - GJB6_000016 - PubMed: Dalamon 2013 - - Germline - 2/476 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 analysis 476 unrelated non-syndromic deaf individuals - - Argentina - - - - - 1 Viviana Karina DalamĂ³n
+?/. _1_3 c.-553_443{0} r.0? p.0? Parent #1 - pathogenic (recessive) g.20797177_21105945del g.20223038_20531806del del(GJB6-D13S1830), c.-301126_443del - GJB6_000016 - PubMed: Dalamon 2013 - - Germline - 2/476 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 analysis 476 unrelated non-syndromic deaf individuals - - Argentina - - - - - 1 Viviana Karina DalamĂ³n
+?/. _1_3 c.-553_443{0} r.0? p.0? Parent #1 - pathogenic (recessive) g.20797177_21105945del g.20223038_20531806del del(GJB6-D13S1830), c.-301126_443del - GJB6_000016 - PubMed: Dalamon 2013 - - Germline - 1/476 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 analysis 476 unrelated non-syndromic deaf individuals - - Argentina - - - - - 1 Viviana Karina DalamĂ³n
+?/. _1_3 c.-553_443{0} r.0? p.0? Parent #1 - pathogenic (recessive) g.20797177_21105945del g.20223038_20531806del del(GJB6-D13S1830), c.-301126_443del - GJB6_000016 - PubMed: Dalamon 2013 - - Germline - 1/476 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 analysis 476 unrelated non-syndromic deaf individuals - - Argentina - - - - - 1 Viviana Karina DalamĂ³n
+/. _1_3 c.-553_443{0} r.? p.? Unknown - pathogenic g.20797177_21105945del g.20223038_20531806del del(GJB6-D13S1830), g.20222988_20531806del - GJB6_000016 variant description published was not correct (D.Baux) PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1584 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/. _1_3 c.-553_443{0} r.? p.? Unknown - pathogenic g.20797177_21105945del g.20223038_20531806del del(GJB6-D13S1830), g.20222988_20531806del - GJB6_000016 variant description published was not correct (D.Baux) PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1636 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/. _1_3 c.-553_443{0} r.? p.? Maternal (confirmed) - pathogenic g.20797177_21105945del g.20223038_20531806del g.20222988_20531806del - GJB6_000016 variant description published was not correct (D.Baux) PubMed: Baux 2017, Journal: Baux 2017 - - Germline yes - - - - DNA SEQ - - deafness S1778 PubMed: Baux 2017, Journal: Baux 2017 Proband F no France - - - - - 1 David Baux
+/+ _1_2i c.-553_-16+992{0} r.0? p.0? Parent #2 - pathogenic (recessive) g.20802727_21034768del g.20228588_20460629del del(GJB6-D13S1854), c.-229949_-16+992del - GJB6_000017 232 kb deletion; fusion transcript CRYL1_GJB6 created? PubMed: del Castillo 2005, Journal: del Castillo 2005, OMIM:var0006 - - Germline ? 10/47 cases - - - DNA PCR, SEQ, Southern - - DFNB1B - PubMed: del Castillo 2005, Journal: del Castillo 2005 ARNSHI cases from Spain ? no Spain - - - - - 10 Johan den Dunnen
+/+ _1_2i c.-553_-16+992{0} r.0? p.0? Parent #2 - pathogenic (recessive) g.20802727_21034768del g.20228588_20460629del del(GJB6-D13S1854), c.-229949_-16+992del - GJB6_000017 232 kb deletion PubMed: del Castillo 2005, Journal: del Castillo 2005, OMIM:var0006 - - Germline - 1/47 cases - - - DNA PCR, SEQ, Southern - - DFNB1B - PubMed: del Castillo 2005, Journal: del Castillo 2005 ARNSHI cases - - Spain - - - - - 1 Johan den Dunnen
+/+ _1_2i c.-553_-16+992{0} r.0? p.0? Parent #2 - pathogenic (recessive) g.20802727_21034768del g.20228588_20460629del del(GJB6-D13S1854), c.-229949_-16+992del - GJB6_000017 232 kb deletion PubMed: del Castillo 2005, Journal: del Castillo 2005, OMIM:var0006 - - Germline - 1/47 cases - - - DNA PCR, SEQ, Southern - - DFNB1B - PubMed: del Castillo 2005, Journal: del Castillo 2005 ARNSHI cases - - Spain - - - - - 1 Johan den Dunnen
+/+ _1_2i c.-553_-16+992{0} r.0? p.0? Parent #2 - pathogenic (recessive) g.20802727_21034768del g.20228588_20460629del del(GJB6-D13S1854), c.-229949_-16+992del - GJB6_000017 232 kb deletion PubMed: del Castillo 2005, Journal: del Castillo 2005, OMIM:var0006 - - Germline - 1/53 cases - - - DNA PCR, SEQ, Southern - - DFNB1B - PubMed: del Castillo 2005, Journal: del Castillo 2005 ARNSHI cases - - Italy - - - - - 1 Johan den Dunnen
+/+ _1_2i c.-553_-16+992{0} r.0? p.0? Parent #2 - pathogenic (recessive) g.20802727_21034768del g.20228588_20460629del del(GJB6-D13S1854), c.-229949_-16+992del - GJB6_000017 232 kb deletion PubMed: del Castillo 2005, Journal: del Castillo 2005, OMIM:var0006 - - Germline - 4/18 cases - - - DNA PCR, SEQ, Southern - - DFNB1B - PubMed: del Castillo 2005, Journal: del Castillo 2005 ARNSHI cases - - United Kingdom (Great Britain) - - - - - 4 Johan den Dunnen
+/+ _1_2i c.-553_-16+992{0} r.0? p.0? Parent #2 - pathogenic (recessive) g.20802727_21034768del g.20228588_20460629del del(GJB6-D13S1854), c.-229949_-16+992del - GJB6_000017 232 kb deletion PubMed: del Castillo 2005, Journal: del Castillo 2005, OMIM:var0006 - - Germline - 1/16 cases - - - DNA PCR, SEQ, Southern - - DFNB1B - PubMed: del Castillo 2005, Journal: del Castillo 2005 ARNSHI cases - - Brazil - - - - - 1 Johan den Dunnen
+?/. _1_2i c.-553_-16+992{0} r.0? p.0? Parent #1 - pathogenic (recessive) g.20802727_21034768del g.20228588_20460629del del(GJB6-D13S1854), c.-229949_-16+992del - GJB6_000017 - PubMed: Dalamon 2013 - - Germline - 3/476 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 analysis 476 unrelated non-syndromic deaf individuals - - Argentina - - - - - 1 Viviana Karina DalamĂ³n
+?/. _1_2i c.-553_-16+992{0} r.0? p.0? Parent #1 - pathogenic (recessive) g.20802727_21034768del g.20228588_20460629del del(GJB6-D13S1854), c.-229949_-16+992del - GJB6_000017 - PubMed: Dalamon 2013 - - Germline - 3/476 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 analysis 476 unrelated non-syndromic deaf individuals - - Argentina - - - - - 1 Viviana Karina DalamĂ³n
+?/. _1_2i c.-553_-16+992{0} r.0? p.0? Parent #1 - pathogenic (recessive) g.20802727_21034768del g.20228588_20460629del del(GJB6-D13S1854), c.-229949_-16+992del - GJB6_000017 - PubMed: Dalamon 2013 - - Germline - 3/476 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 analysis 476 unrelated non-syndromic deaf individuals - - Argentina - - - - - 1 Viviana Karina DalamĂ³n
+/+ _1_2i c.-553_(-16+1_-15-1){0} r.0? p.0? Maternal (confirmed) - pathogenic g.(20797635_20803718)_(20805372_?)del - - - GJB6_000015 >140 kb deletion; normal expression GJB2 gene on same chromosome PubMed: Lerer 2001, Journal: Lerer 2001 - - Germline yes - - - - DNA, RNA PCR, RT-PCR, SEQ, Southern - - DFNB;ARNSHL - PubMed: Lerer 2001, Journal: Lerer 2001 2-generation family, affected daugther (II4), unaffected heterozygous carrier mother (father I1, brother II3) F no Israel Jewish-Ashkenazi - - - - 3 Johan den Dunnen
+/+ _1_2i c.-553_(-16+1_-15-1){0} r.0? p.0? Maternal (confirmed) - pathogenic g.(20797635_20803718)_(20805372_?)del - - - GJB6_000015 >140 kb deletion PubMed: Lerer 2001, Journal: Lerer 2001 - - Germline yes - - - - DNA PCR, SEQ, Southern - - DFNB;ARNSHL - PubMed: Lerer 2001, Journal: Lerer 2001 2-generation family, affected son (II4), unaffected heterozygous carrier mother (father I1, sister II4) M no Israel Jewish-Ashkenazi - - - - 1 Johan den Dunnen
?/. - c.1A>G r.(?) p.(Met1?) Unknown - VUS g.20797619T>C g.20223480T>C GJB6(NM_001110219.3):c.1A>G (p.(Met1?)), GJB6(NM_006783.4):c.1A>G (p.M1?), GJB6(NM_006783.5):c.1A>G (p.M1?) - GJB6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1A>G r.(?) p.(Met1?) Unknown - VUS g.20797619T>C g.20223480T>C GJB6(NM_001110219.3):c.1A>G (p.(Met1?)), GJB6(NM_006783.4):c.1A>G (p.M1?), GJB6(NM_006783.5):c.1A>G (p.M1?) - GJB6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1A>G r.(?) p.(Met1?) Unknown - VUS g.20797619T>C - GJB6(NM_001110219.3):c.1A>G (p.(Met1?)), GJB6(NM_006783.4):c.1A>G (p.M1?), GJB6(NM_006783.5):c.1A>G (p.M1?) - GJB6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1A>G r.(?) p.(Met1?) Unknown - VUS g.20797619T>C - GJB6(NM_001110219.3):c.1A>G (p.(Met1?)), GJB6(NM_006783.4):c.1A>G (p.M1?), GJB6(NM_006783.5):c.1A>G (p.M1?) - GJB6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6T>C r.(?) p.(Asp2=) Unknown - likely benign g.20797614A>G - GJB6(NM_006783.4):c.6T>C (p.D2=) - GJB6_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.14C>T r.(?) p.(Thr5Met) Parent #1 - pathogenic g.20797606G>A g.20223467G>A - - GJB6_000003 - PubMed: Grifa 1999, OMIM:var0001 - - Germline yes - - - - DNA ? - - DFNA3B - PubMed: Grifa 1999 - - - Italy - - - - - 1 Connexin-deafness
+/. 3 c.31G>A r.(?) p.(Gly11Arg) Parent #1 - pathogenic g.20797589C>T g.20223450C>T - - GJB6_000002 - PubMed: Lamartine 2000, OMIM:var0002 - rs104894415 Germline yes - - - - DNA SEQ - - ECTD2 - PubMed: Lamartine 2000 5-generation family, 23 affecteds (12F, 11M) - - France - - - - - 23 Johan den Dunnen
+/. 3 c.31G>A r.(?) p.(Gly11Arg) Parent #1 - pathogenic g.20797589C>T g.20223450C>T - - GJB6_000002 - PubMed: Lamartine 2000, OMIM:var0002 - rs104894415 Germline yes - - - - DNA SEQ - - ECTD2 - PubMed: Lamartine 2000 2-generation family, 3 affecteds, father son and daugther - - France - - - - - 3 Johan den Dunnen
+/. 3 c.31G>A r.(?) p.(Gly11Arg) Parent #1 - pathogenic g.20797589C>T g.20223450C>T - - GJB6_000002 - PubMed: Lamartine 2000, OMIM:var0002 - rs104894415 Germline yes - - - - DNA SEQ - - ECTD2 - PubMed: Lamartine 2000 - - - - African - - - - 1 Johan den Dunnen
+/. 3 c.31G>A r.(?) p.(Gly11Arg) Parent #1 - pathogenic g.20797589C>T g.20223450C>T - - GJB6_000002 - PubMed: Lamartine 2000, OMIM:var0002 - rs104894415 Germline yes - - - - DNA SEQ - - ECTD2 - PubMed: Lamartine 2000 - - - Spain - - - - - 1 Johan den Dunnen
+/. 3 c.31G>A r.(?) p.(Gly11Arg) Parent #1 - pathogenic g.20797589C>T g.20223450C>T - - GJB6_000002 - PubMed: Lamartine 2000, OMIM:var0002 - rs104894415 Germline yes - - - - DNA SEQ - - ECTD2 - PubMed: Lamartine 2000 - - - Canada French-Canadian - - - - 1 Johan den Dunnen
+/. 3 c.31G>A r.(?) p.(Gly11Arg) Parent #1 - pathogenic g.20797589C>T g.20223450C>T - - GJB6_000002 - PubMed: Lamartine 2000, OMIM:var0002 - rs104894415 Germline yes - - - - DNA SEQ - - ECTD2 - PubMed: Lamartine 2000 - - - Canada French-Canadian - - - - 1 Johan den Dunnen
+/. 3 c.31G>A r.(?) p.(Gly11Arg) Parent #1 - pathogenic g.20797589C>T g.20223450C>T - - GJB6_000002 - PubMed: Lamartine 2000, OMIM:var0002 - rs104894415 Germline yes - - - - DNA SEQ - - ECTD2 - PubMed: Lamartine 2000 - - - Canada French-Canadian - - - - 1 Johan den Dunnen
+/. 3 c.31G>A r.(?) p.(Gly11Arg) Parent #1 - pathogenic g.20797589C>T g.20223450C>T - - GJB6_000002 - PubMed: Lamartine 2000, OMIM:var0002 - rs104894415 Germline yes - - - - DNA SEQ - - ECTD2 - PubMed: Lamartine 2000 - - - United Kingdom (Great Britain) Scottish, Irish - - - - 1 Johan den Dunnen
+/. 3 c.31G>A r.(?) p.(Gly11Arg) Parent #1 - pathogenic g.20797589C>T g.20223450C>T - - GJB6_000002 - PubMed: Lamartine 2000, OMIM:var0002 - rs104894415 Germline yes - - - - DNA SEQ - - ECTD2 - PubMed: Lamartine 2000 - - - France - - - - - 1 Johan den Dunnen
+/. - c.31G>A r.(?) p.(Gly11Arg) Unknown - pathogenic g.20797589C>T g.20223450C>T GJB6(NM_006783.5):c.31G>A (p.G11R) - GJB6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.31G>A r.(?) p.(Gly11Arg) Unknown - pathogenic g.20797589C>T - GJB6(NM_006783.5):c.31G>A (p.G11R) - GJB6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.61G>A r.(?) p.(Gly21Arg) Unknown - VUS g.20797559C>T g.20223420C>T - - GJB6_000020 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
?/. - c.61G>A r.(?) p.(Gly21Arg) Unknown - VUS g.20797559C>T g.20223420C>T GJB6(NM_001110219.3):c.61G>A (p.G21R) - GJB6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.61G>A r.(?) p.(Gly21Arg) Unknown - likely benign g.20797559C>T g.20223420C>T GJB6(NM_001110219.3):c.61G>A (p.G21R) - GJB6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.63del r.(?) p.(Lys22Argfs*13) Parent #1 - pathogenic g.20797559del g.20223420del - - GJB6_000010 - Pandya, PC - - Unknown - - - - - DNA ? - - ? - Pandya, PC - - - - - - - - - 1 Connexin-deafness
+/. 3 c.63del r.(?) p.(Lys22Argfs*13) Parent #1 - pathogenic g.20797559del g.20223420del - - GJB6_000010 - PubMed: Gardner 2006 - - Unknown - - - - - DNA ? - - DFNA3A - {PMID16950989:Gardner 2006} - - - - - - - - - 1 Julia Lopez
+/. 3 c.110T>A r.(?) p.(Val37Glu) Parent #1 - pathogenic g.20797510A>T g.20223371A>T - - GJB6_000013 - PubMed: Smith 2002, OMIM:var0005 - - Unknown - - - - - DNA ? - - ECTD2 - PubMed: Smith 2002 - - - - - - - - - 1 Julia Lopez
?/. - c.110T>C r.(?) p.(Val37Ala) Maternal (confirmed) - VUS g.20797510A>G - - - GJB6_000039 - PubMed: Caengprasath 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES IFAP Pat2 PubMed: Caengprasath 2023 2-generation family, 1 affected, unaffected carrier mother M - Thailand - - - - - 1 Johan den Dunnen
-?/. - c.111G>A r.(?) p.(Val37=) Unknown - likely benign g.20797509C>T g.20223370C>T GJB6(NM_001110219.3):c.111G>A (p.V37=) - GJB6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3 c.117T>C r.(=) p.(Ala39=) Parent #1 - benign g.20797503A>G g.20223364A>G A39A - GJB6_000004 - PubMed: Kelley 1999 - - Unknown - - - - - DNA ? - - ? - PubMed: Kelley et al, 1999 - - - - - - - - - 1 Connexin-deafness
+?/. 3 c.119C>T r.(?) p.(Ala40Val) Parent #1 - likely pathogenic g.20797501G>A g.20223362G>A - - GJB6_000014 - PubMed: Yang 2007 - - Unknown - 1/260 cases - - - DNA ? - - DFNA1 - PubMed: Yang 2007 - - - Taiwan - - - - - 1 Julia Lopez
-?/. - c.138C>T r.(?) p.(Asp46=) Unknown - likely benign g.20797482G>A - GJB6(NM_006783.4):c.138C>T (p.D46=) - GJB6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.148G>A r.(?) p.(Asp50Asn) Unknown - pathogenic g.20797472C>T g.20223333C>T - - GJB6_000012 - PubMed: Baris 2008 - - De novo yes - - - - DNA ? - - ECTD2 - PubMed: Baris 2008 affected mother and son F no Israel - - - - - 1 Julia Lopez
?/. - c.148G>T r.(?) p.(Asp50Tyr) Unknown - VUS g.20797472C>A - GJB6(NM_001110219.3):c.148G>T (p.D50Y) - GJB6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3 c.153C>T r.(=) p.(Phe51=) Unknown - benign g.20797467G>A g.20223328G>A - - GJB6_000019 - - - rs185764408 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.159C>A r.(?) p.(Cys53Ter) Unknown - pathogenic g.20797461G>T g.20223322G>T GJB6(NM_001110219.3):c.159C>A (p.C53*) - GJB6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3 c.174G>A r.(=) p.(Pro85=) Parent #1 - benign g.20797446C>T g.20223307C>T - - GJB6_000005 - PubMed: Kelley 1999 - - Unknown - - - - - DNA ? - - ? - PubMed: Kelley et al, 1999 - - - - - - - - - 1 Connexin-deafness
+/. 3 c.175G>C r.(?) p.(Gly59Arg) Parent #1 - pathogenic g.20797445C>G g.20223306C>G - - GJB6_000011 - PubMed: Nemoto-Hasebe 2009 - - Unknown - - - - - DNA ? - - keratoderma palmoplantar, deafness - PubMed: Nemoto-Hasebe 2009 - F - Japan - - - - - 1 Julia Lopez
?/. - c.209C>T r.(?) p.(Pro70Leu) Unknown - VUS g.20797411G>A g.20223272G>A GJB6(NM_006783.5):c.209C>T (p.P70L) - GJB6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.209C>T r.(?) p.(Pro70Leu) Unknown - VUS g.20797411G>A - GJB6(NM_006783.5):c.209C>T (p.P70L) - GJB6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.212T>C r.(?) p.(Val71Ala) Unknown - VUS g.20797408A>G g.20223269A>G GJB6(NM_006783.4):c.212T>C (p.V71A), GJB6(NM_006783.5):c.212T>C (p.V71A) - GJB6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.212T>C r.(?) p.(Val71Ala) Unknown - VUS g.20797408A>G - GJB6(NM_006783.4):c.212T>C (p.V71A), GJB6(NM_006783.5):c.212T>C (p.V71A) - GJB6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.250G>A r.(?) p.(Val84Ile) Unknown - VUS g.20797370C>T - GJB6(NM_001110219.3):c.250G>A (p.(Val84Ile)) - GJB6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.254C>T r.(?) p.(Ser85Phe) Unknown - VUS g.20797366G>A - GJB6(NM_006783.5):c.254C>T (p.S85F) - GJB6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.263C>A r.(?) p.(Ala88Glu) Unknown - pathogenic g.20797357G>T g.20223218G>T - - GJB6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.263C>T r.(?) p.(Ala88Val) Maternal (inferred) - pathogenic g.20797357G>A g.20223218G>A - - GJB6_000001 - PubMed: Marakhonov 2012, {CV:SCV000026065} - rs28937872 Germline yes - - - - DNA SEQ blood - ECTD2 - PubMed: Marakhonov 2012 in-depth analysis of the pedigree of the proband’s family revealed that at least one person in each generation was affected. All other affected relatives were dead, so we were unable to perform medical and molecular genetic analyses. F no (Russian Federation) - - - - - 1 Andrey Marakhonov
+/. 3 c.263C>T r.(?) p.(Ala88Val) Parent #1 - pathogenic g.20797357G>A g.20223218G>A - - GJB6_000001 - PubMed: Lamartine 2000, OMIM:var0003 - rs28937872 Germline yes - - - - DNA SEQ - - ECTD2 - PubMed: Lamartine 2000 3-generation family, 5 affecteds (3F, 2M) - - United Kingdom (Great Britain) Wales - - - - 1 Andrey Marakhonov
+/. 3 c.263C>T r.(?) p.(Ala88Val) Parent #1 - pathogenic g.20797357G>A g.20223218G>A - - GJB6_000001 - PubMed: Lamartine 2000, OMIM:var0003 - rs28937872 Germline yes - - - - DNA SEQ - - ECTD2 - PubMed: Lamartine 2000 - - - India - - - - - 1 Andrey Marakhonov
+/. 3 c.263C>T r.(?) p.(Ala88Val) Parent #1 - pathogenic g.20797357G>A g.20223218G>A - - GJB6_000001 - PubMed: Lamartine 2000, OMIM:var0003 - rs28937872 Germline yes - - - - DNA SEQ - - ECTD2 - PubMed: Lamartine 2000 - - - Malaysia - - - - - 1 Andrey Marakhonov
+/. - c.263C>T r.(?) p.(Ala88Val) Unknown - pathogenic g.20797357G>A g.20223218G>A GJB6(NM_001110219.3):c.263C>T (p.A88V) - GJB6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.301G>A r.(?) p.(Glu101Lys) Unknown - VUS g.20797319C>T - GJB6(NM_006783.5):c.301G>A (p.E101K) - GJB6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.339T>A r.(?) p.(Asn113Lys) Unknown - likely benign g.20797281A>T g.20223142A>T GJB6(NM_001110219.3):c.339T>A (p.N113K) - GJB6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3 c.396G>A r.(=) p.(L132=) Parent #1 - benign g.20797224C>T g.20223085C>T - - GJB6_000006 - PubMed: Gabriel 2001 - - Unknown - - - - - DNA ? - - ? - PubMed: Gabriel et al, 2001 - - - - - - - - - 1 Connexin-deafness
-?/. - c.405G>A r.(?) p.(Thr135=) Unknown - likely benign g.20797215C>T g.20223076C>T GJB6(NM_001110219.3):c.405G>A (p.T135=) - GJB6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/- 3 c.415A>G r.(?) p.(Ser139Gly) Parent #1 - likely benign g.20797205T>C g.20223066T>C - - GJB6_000009 - PubMed: Kelley 1999 - - Unknown - - - - - DNA ? - - ? - PubMed: Kelley et al, 1999 - - - - - - - - - 1 Connexin-deafness
?/. - c.425del r.(?) p.(Phe142Serfs*26) Unknown - VUS g.20797199del - GJB6(NM_001110219.3):c.425del (p.(Phe142Serfs*26)) - GJB6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.476A>G r.(?) p.(Asn159Ser) Unknown - VUS g.20797144T>C g.20223005T>C - - GJB6_000018 - - - rs35277762 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-/- 3 c.489G>A r.(=) p.(L163=) Parent #1 - benign g.20797131C>T g.20222992C>T L163L - GJB6_000007 - PubMed: Kelley 1999 - rs35002004 Unknown no - - - - DNA ? - - ? - PubMed: Kelley et al, 1999 - - - - - - - - - 1 Connexin-deafness
-?/. - c.489G>A r.(?) p.(Leu163=) Unknown - likely benign g.20797131C>T g.20222992C>T GJB6(NM_001110219.3):c.489G>A (p.L163=) - GJB6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/- 3 c.595T>A r.(?) p.(Ser199Thr) Parent #1 - likely benign g.20797025A>T g.20222886A>T - - GJB6_000008 - PubMed: Kelley 1999 - - Unknown - - - - - DNA ? - - ? - PubMed: Kelley et al, 1999 - - - - - - - - - 1 Connexin-deafness
-?/. - c.595T>A r.(?) p.(Ser199Thr) Unknown - likely benign g.20797025A>T g.20222886A>T GJB6(NM_001110219.3):c.595T>A (p.S199T) - GJB6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.595T>A r.(?) p.(Ser199Thr) Unknown - likely benign g.20797025A>T g.20222886A>T GJB6(NM_001110219.3):c.595T>A (p.S199T) - GJB6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.607A>G r.(?) p.(Met203Val) Unknown - likely benign g.20797013T>C g.20222874T>C GJB6(NM_006783.4):c.607A>G (p.M203V) - GJB6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.617A>C r.(?) p.(Asn206Thr) Unknown - VUS g.20797003T>G - GJB6(NM_006783.5):c.617A>C (p.N206T) - GJB6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.689del r.(?) p.(Asn230IlefsTer7) Unknown - likely pathogenic g.20796937del g.20222798del GJB6(NM_001110219.3):c.689delA (p.N230Ifs*7) - GJB6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.689dup r.(?) p.(Asn230Lysfs*11) Unknown - VUS g.20796937dup - - - GJB6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.