Full data view for gene BSND

Information The variants shown are described using the NM_057176.2 transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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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     
+/. 2i_4_ c.(272+1_273-1)_*164{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.(55470790_55472669)_(55474465_?)del - del ex3-4 - BSND_000030 - PubMed: Birkenhäger 2001 - - Germline yes - - - - DNA SEQ - - ? F708 PubMed: Birkenhäger 2001 family - yes Lebanon - - - - - 1 Johan den Dunnen
+/. - c.1A>T r.(?) p.(Met1?) Unknown - pathogenic g.55464860A>T g.54999187A>T BSND(NM_057176.3):c.1A>T (p.M1?) - BSND_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1A>T r.(?) p.(Met1?) Unknown - pathogenic g.55464860A>T g.54999187A>T BSND(NM_057176.3):c.1A>T (p.M1?) - BSND_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.1A>T r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.55464860A>T g.54999187A>T - - BSND_000001 - PubMed: Birkenhäger 2001 - - Germline yes - - - - DNA SEQ - - ? F314 PubMed: Birkenhäger 2001 family - yes Turkey - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.1A>T r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.55464860A>T g.54999187A>T - - BSND_000001 - PubMed: Birkenhäger 2001 - - Germline yes - - - - DNA SEQ - - ? F591 PubMed: Birkenhäger 2001 family - yes Turkey - - - - - 1 Johan den Dunnen
+/+ 1 c.1A>T r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.55464860A>T g.54999187A>T - - BSND_000001 - PubMed: Birkenhäger 2001 - - Germline yes - - - - DNA SEQ - - ? F730 PubMed: Birkenhäger 2001 family - yes Turkey - - - - - 1 Johan den Dunnen
+/+ 1 c.1A>T r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.55464860A>T g.54999187A>T - - BSND_000001 - PubMed: Birkenhäger 2001 - - Germline yes - - - - DNA SEQ - - ? F786 PubMed: Birkenhäger 2001 family - yes Turkey - - - - - 1 Johan den Dunnen
+/+ 1 c.1A>T r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.55464860A>T g.54999187A>T - - BSND_000001 - PubMed: Birkenhäger 2001 - - Germline yes - - - - DNA SEQ - - ? F791 PubMed: Birkenhäger 2001 family - yes Turkey - - - - - 1 Johan den Dunnen
+/+ 1 c.2T>A r.(?) p.(Met1?) Parent #1 - pathogenic g.55464861T>A g.54999188T>A - - BSND_000010 - MORL Deafness Variation Database, PubMed: Ozlu 2006 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Ozlu 2006 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.3G>A r.(?) p.0? Parent #1 - pathogenic (recessive) g.55464862G>A g.54999189G>A - - BSND_000011 - PubMed: Birkenhäger 2001 - - Germline - - - - - DNA SEQ - - ? F662 PubMed: Birkenhäger 2001 family - no United Kingdom (Great Britain) - - - - - 1 Global Variome, with Curator vacancy
+/. - c.3G>A r.(?) p.(Met1?) Both (homozygous) - pathogenic (recessive) g.55464862G>A g.54999189G>A - - BSND_000011 - PubMed: Brochard 2009 - - Germline - - - - - DNA SEQ - - BARTS Pat37 PubMed: Brochard 2009 patient - - France white - - - - 1 Johan den Dunnen
+/. - c.10G>T r.(?) p.(Glu4*) Paternal (confirmed) - pathogenic (recessive) g.55464869G>T - - - BSND_000012 - PubMed: Riazuddin 2009 - - De novo yes - - - - DNA SEQ - - ? PKDF815 PubMed: Riazuddin 2009 3 affected (2F, M), separate branch family F;M yes Pakistan - - - - - 3 Johan den Dunnen
+/+ 1 c.22C>T r.(?) p.(Arg8Trp) Both (homozygous) - pathogenic (recessive) g.55464881C>T g.54999208C>T - - BSND_000013 - PubMed: Birkenhäger 2001 - - Germline yes - - - - DNA SEQ - - ? F813 PubMed: Birkenhäger 2001 - - yes - North Africa - - - - 1 Global Variome, with Curator vacancy
+?/. - c.22C>T r.(?) p.(Arg8Trp) Unknown - likely pathogenic g.55464881C>T - - - BSND_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.23G>T r.(?) p.(Arg8Leu) Both (homozygous) - pathogenic (recessive) g.55464882G>T g.54999209G>T - - BSND_000014 - PubMed: Birkenhäger 2001 - - Germline - - - - - DNA SEQ - - ? F206 PubMed: Birkenhäger 2001 family - yes France - - - - - 1 Global Variome, with Curator vacancy
+/. - c.23G>T r.(?) p.(Arg8Leu) Both (homozygous) - pathogenic (recessive) g.55464882G>T g.54999209G>T - - BSND_000014 - PubMed: Brochard 2009 - - Germline - - - - - DNA SEQ - - BARTS Pat34 PubMed: Brochard 2009 patient - - France white - - - - 1 Johan den Dunnen
+/. 1 c.28G>A r.(?) p.(Gly10Ser) Parent #1 - pathogenic g.55464887G>A g.54999214G>A - - BSND_000015 - MORL Deafness Variation Database, PubMed: Brennan 1998 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Brennan 1998, PubMed: Birkenhäger 2001 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.28G>A r.(?) p.(Gly10Ser) Unknown - pathogenic g.55464887G>A - - - BSND_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - BARTS4A PT940 - - - - Japan Asian - - - - 1 Takayasu Mori
+/. - c.28G>A r.(?) p.(Gly10Ser) Parent #2 - pathogenic (recessive) g.55464887G>A - - - BSND_000015 - PubMed: Birkenhäger 2001 - - Germline - - - - - DNA SEQ - - ? F662 PubMed: Birkenhäger 2001 family - no United Kingdom (Great Britain) - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.28G>A r.(?) p.(Gly10Ser) Both (homozygous) - pathogenic (recessive) g.55464887G>A - - - BSND_000015 - PubMed: Birkenhäger 2001 - - Germline yes - - - - DNA SEQ - - ? F542 PubMed: Birkenhäger 2001 family - yes Israel - - - - - 1 Johan den Dunnen
+/. 1 c.35T>C r.(?) p.(Ile12Thr) Both (homozygous) - pathogenic (recessive) g.55464894T>C - - - BSND_000016 - PubMed: Riazuddin 2009 - - Germline yes - - - - DNA SEQ - - ? PKDF815 PubMed: Riazuddin 2009 6-generation family, 27 affected (13F, 14M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 24 Johan den Dunnen
+/. 1 c.35T>C r.(?) p.(Ile12Thr) Both (homozygous) - pathogenic (recessive) g.55464894T>C g.54999221T>C - - BSND_000016 - PubMed: Riazuddin 2009 - - Germline yes - - - - DNA ? - - deafness PKDF393 PubMed: Riazuddin 2009 5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 4 Global Variome, with Curator vacancy
+/. - c.35T>C r.(?) p.(Ile12Thr) Both (homozygous) - pathogenic (recessive) g.55464894T>C - - - BSND_000016 - PubMed: Riazuddin 2009, PubMed: Naz 2017 - rs121908144 Germline yes - - - - DNA SEQ - - deafness PKDF606;HLAI-23 PubMed: Riazuddin 2009, PubMed: Naz 2017 4-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 5 Johan den Dunnen
+/. 1 c.35T>C r.(?) p.(Ile12Thr) Both (homozygous) - pathogenic (recessive) g.55464894T>C - - - BSND_000016 - PubMed: Riazuddin 2009 - - Germline yes - - - - DNA SEQ - - deafness PKDF067 PubMed: Riazuddin 2009 5-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 4 Johan den Dunnen
+/. 1 c.35T>C r.(?) p.(Ile12Thr) Maternal (confirmed) - pathogenic (recessive) g.55464894T>C - - - BSND_000016 - PubMed: Riazuddin 2009 - - Germline yes - - - - DNA SEQ - - ? PKDF815 PubMed: Riazuddin 2009 3 affected (2F, M), separate branch family F;M yes Pakistan - - - - - 3 Johan den Dunnen
+/. - c.35T>C r.(?) p.(Ile12Thr) Both (homozygous) - pathogenic (recessive) g.55464894T>C g.54999221T>C - - BSND_000016 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4304 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.35T>C r.(?) p.(Ile12Thr) Both (homozygous) - pathogenic (recessive) g.55464894T>C g.54999221T>C - - BSND_000016 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4384 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.35T>C r.(?) p.(Ile12Thr) Both (homozygous) - pathogenic (recessive) g.55464894T>C g.54999221T>C - - BSND_000016 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4558 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.35T>C r.(?) p.(Ile12Thr) Both (homozygous) - pathogenic (recessive) g.55464894T>C g.54999221T>C - - BSND_000016 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4150 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.35T>C r.(?) p.(Ile12Thr) Both (homozygous) - pathogenic (recessive) g.55464894T>C g.54999221T>C - - BSND_000016 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4576 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.35T>C r.(?) p.(Ile12Thr) Both (homozygous) - pathogenic (recessive) g.55464894T>C g.54999221T>C - - BSND_000016 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4592 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.35T>C r.(?) p.(Ile12Thr) Both (homozygous) - pathogenic (recessive) g.55464894T>C g.54999221T>C - - BSND_000016 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4593 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.35T>C r.(?) p.(Ile12Thr) Both (homozygous) - pathogenic (recessive) g.55464894T>C g.54999221T>C - - BSND_000016 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF970b PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.35T>C r.(?) p.(Ile12Thr) Both (homozygous) - pathogenic (recessive) g.55464894T>C g.54999221T>C - - BSND_000016 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1673 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.35T>C r.(?) p.(Ile12Thr) Both (homozygous) - pathogenic (recessive) g.55464894T>C g.54999221T>C - - BSND_000016 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKSR20 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.63C>T r.(?) p.(Leu21=) Unknown - likely benign g.55464922C>T g.54999249C>T BSND(NM_057176.3):c.63C>T (p.L21=) - BSND_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.63C>T r.(?) p.(Leu21=) Unknown - likely benign g.55464922C>T - BSND(NM_057176.3):c.63C>T (p.L21=) - BSND_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.83A>G r.(?) p.(His28Arg) Unknown - VUS g.55464942A>G - - - BSND_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.94C>T r.(?) p.(Gln32*) Parent #1 - pathogenic g.55464953C>T g.54999280C>T - - BSND_000017 - MORL Deafness Variation Database, PubMed: Kitanaka 2006 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Kitanaka 2006 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.97G>C r.(?) p.(Val33Leu) Parent #1 - pathogenic g.55464956G>C g.54999283G>C - - BSND_000018 - MORL Deafness Variation Database, PubMed: Shafique 2014 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Shafique 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.139G>A r.(?) p.(Gly47Arg) Parent #1 - pathogenic g.55464998G>A g.54999325G>A - - BSND_000019 - MORL Deafness Variation Database, PubMed: Estévez 2001 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Estévez 2001 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.139G>A r.(?) p.(Gly47Arg) Both (homozygous) - pathogenic (recessive) g.55464998G>A - - - BSND_000019 - PubMed: Miyamura 2003 - - Germline yes - - - - DNA SEQ - - ? patient PubMed: Miyamura 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Japan - - - - - 1 Johan den Dunnen
+/. - c.139G>A r.(?) p.(Gly47Arg) Both (homozygous) - pathogenic (recessive) g.55464998G>A g.54999325G>A - - BSND_000019 - PubMed: Brochard 2009 - - Germline - - - - - DNA SEQ - - BARTS Pat35 PubMed: Brochard 2009 patient - - France white - - - - 1 Johan den Dunnen
+/. 1 c.157_177+20del r.spl p.? Both (homozygous) - pathogenic (recessive) g.55465016_55465056del - - - BSND_000029 - PubMed: Birkenhäger 2001 - - Germline yes - - - - DNA SEQ - - ? F197 PubMed: Birkenhäger 2001 family - yes - North Africa - - - - 1 Johan den Dunnen
+/. - c.157_177+20del r.? p.(Met53_Lys59del) Both (homozygous) - pathogenic (recessive) g.55465016_55465056del g.54999343_54999383del - - BSND_000029 - PubMed: Brochard 2009 - - Germline - - - - - DNA SEQ - - BARTS Pat36 PubMed: Brochard 2009 patient - - Algeria - - - - - 1 Johan den Dunnen
+/+ 1i c.177+5G>C r.spl? p.? Parent #1 - pathogenic g.55465041G>C g.54999368G>C - - BSND_000020 - MORL Deafness Variation Database, PubMed: Zaffanello 2006 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Zaffanello 2006 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 1i c.177+7G>A r.(=) p.(=) Parent #1 - likely benign g.55465043G>A g.54999370G>A - - BSND_000021 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.177+11G>A r.(=) p.(=) Unknown - likely benign g.55465047G>A g.54999374G>A - - BSND_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.189C>T r.(?) p.(Val63=) Unknown - likely benign g.55470706C>T g.55005033C>T BSND(NM_057176.3):c.189C>T (p.V63=) - BSND_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.189C>T r.(?) p.(Val63=) Unknown - likely benign g.55470706C>T - BSND(NM_057176.3):c.189C>T (p.V63=) - BSND_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.262G>A r.(?) p.(Glu88Lys) Parent #1 - likely pathogenic g.55470779G>A g.55005106G>A - - BSND_000023 - MORL Deafness Variation Database, PubMed: Gulsuner 2013 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Gulsuner 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 2 c.262G>T r.(?) p.(Glu88*) Parent #1 - pathogenic g.55470779G>T g.55005106G>T - - BSND_000022 - MORL Deafness Variation Database, PubMed: Ozlu 2006, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Ozlu 2006, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 3 c.302dup r.(?) p.(Trp102Valfs*7) Parent #1 - pathogenic g.55472699dup g.55007026dup - - BSND_000024 - MORL Deafness Variation Database, PubMed: de Pablos 2014 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: de Pablos 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.393G>T r.(?) p.(Leu131Phe) Unknown - VUS g.55472790G>T g.55007117G>T BSND(NM_057176.3):c.393G>T (p.L131F) - BSND_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 3 c.457G>A r.(?) p.(Asp153Asn) Parent #1 - likely benign g.55472854G>A g.55007181G>A - - BSND_000025 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.459C>T r.(?) p.(Asp153=) Unknown - likely benign g.55472856C>T - BSND(NM_057176.3):c.459C>T (p.D153=) - BSND_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.514G>A r.(?) p.(Glu172Lys) Unknown - VUS g.55472911G>A g.55007238G>A BSND(NM_057176.3):c.514G>A (p.E172K) - BSND_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.806G>A r.(?) p.(Arg269Gln) Unknown - VUS g.55474144G>A - BSND(NM_057176.3):c.806G>A (p.R269Q) - BSND_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.843G>A r.(?) p.(Ser281=) Unknown - likely benign g.55474181G>A - BSND(NM_057176.3):c.843G>A (p.S281=) - BSND_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.872A>G r.(?) p.(Glu291Gly) Parent #1 - VUS g.55474210A>G g.55008537A>G - - BSND_000026 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 4 c.917T>C r.(?) p.(Leu306Pro) Parent #1 - likely benign g.55474255T>C g.55008582T>C - - BSND_000027 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 4 c.*14C>T r.(=) p.(=) Parent #1 - likely benign g.55474315C>T g.55008642C>T - - BSND_000028 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.*24A>C r.(=) p.(=) Unknown - benign g.55474325A>C g.55008652A>C - - BSND_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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