Full data view for gene DSPP

Information The variants shown are described using the NM_014208.3 transcript reference sequence.

290 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.-29+7T>C r.(=) p.(=) Unknown - likely benign g.88529779T>C g.87608627T>C DSPP(NM_014208.3):c.-29+7T>C - DSPP_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-28-7T>A r.(=) p.(=) Unknown - VUS g.88532026T>A - DSPP(NM_014208.3):c.-28-7T>A - DSPP_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.16T>C r.(?) p.(Tyr6His) Unknown - VUS g.88532076T>C - DSPP(NM_014208.3):c.16T>C (p.Y6H) - DSPP_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.16T>G r.(?) p.(Tyr6Asp) Parent #1 - pathogenic g.88532076T>G g.87610924T>G - - DSPP_000002 - - - - Germline ? - - - - DNA SEQ, SSCA - - DGI1 - - - - ? (France) - - - - - 1 Muriel de La Dure-Molla
+/+ 2 c.16T>G r.(?) p.(Tyr6Asp) Parent #1 - pathogenic g.88532076T>G g.87610924T>G - - DSPP_000002 - MORL Deafness Variation Database, PubMed: Witkop CJ Jr 1988, PubMed: Rajpar 2002, PubMed: Li 2012 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Witkop CJ Jr 1988, PubMed: Rajpar 2002, PubMed: Li 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 2 c.44C>T r.(?) p.(Ala15Val) Parent #1 - pathogenic g.88532104C>T g.87610952C>T - - DSPP_000003 - PubMed: Malmgren 2014 - - Germline - - - - - DNA SEQ - - DGI1 - PubMed: Malmgren 2014 - ? ? - - - - - - 1 Muriel de La Dure-Molla
+/+ 2 c.44C>T r.(?) p.(Ala15Val) Parent #1 - pathogenic g.88532104C>T g.87610952C>T - - DSPP_000003 - MORL Deafness Variation Database, PubMed: Witkop CJ Jr 1988, PubMed: von Marschall 2012, PubMed: Malmgren 2004, PubMed: Li 2012 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Witkop CJ Jr 1988, PubMed: von Marschall 2012, PubMed: Malmgren 2004, PubMed: Li 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 2 c.49C>A r.(?) p.(pro17thr) Parent #1 - pathogenic g.88532109C>A g.87610957C>A - - DSPP_000004 - PubMed: Xiao 2001 - - Germline - - - - - DNA SSCA - - DGI1 - PubMed: Xiao 2001 - - - - - - - - - 1 Muriel de La Dure-Molla
+/+ 2 c.49C>A r.(?) p.(Pro17Thr) Parent #1 - pathogenic g.88532109C>A g.87610957C>A - - DSPP_000004 - MORL Deafness Variation Database, PubMed: Xiao 2001, PubMed: von Marschall 2012, PubMed: Li 2012, PubMed: Lee 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Xiao 2001, PubMed: von Marschall 2012, PubMed: Li 2012, PubMed: Lee 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 2 c.49C>T r.(?) p.(Pro17Ser) Parent #1 - pathogenic g.88532109C>T g.87610957C>T - - DSPP_000005 - PubMed: Zhang 2007 - - Germline - - - - - DNA SEQ - - DGI1 - PubMed: Zhang 2007 - - - - - - - - - 1 Muriel de La Dure-Molla
+/+ 2 c.49C>T r.(?) p.(Pro17Ser) Parent #1 - pathogenic g.88532109C>T g.87610957C>T - - DSPP_000005 - MORL Deafness Variation Database, PubMed: Zhang 2007, PubMed: Li 2012, PubMed: Lee 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Zhang 2007, PubMed: Li 2012, PubMed: Lee 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 2 c.50C>T r.(?) p.(Pro17Leu) Parent #1 - pathogenic g.88532110C>T g.87610958C>T - - DSPP_000006 - PubMed: Lee 2013 - - Germline - - - - - DNA SEQ - - DGI1 - PubMed: Lee 2013 - - - - - - - - - 1 Muriel de La Dure-Molla
+/+ 2 c.50C>T r.(?) p.(Pro17Leu) Parent #1 - pathogenic g.88532110C>T g.87610958C>T - - DSPP_000006 - MORL Deafness Variation Database, PubMed: Wang 2011, PubMed: Lee 2013, PubMed: Li 2012 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Wang 2011, PubMed: Lee 2013, PubMed: Li 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.52-71_52-64del r.(=) p.(=) Unknown - benign g.88533186_88533193del - DSPP(NM_014208.3):c.52-71_52-64delTGTGTGTG - DSPP_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.52-24_52-2del r.spl? p.? Parent #1 - pathogenic g.88533233_88533255del g.87612081_87612103del IVS2 del -3 -25 - DSPP_000039 - PubMed: Wang 2009 - - Germline - - - - - DNA DHPLC, SEQ - - DGI1 - PubMed: Wang 2009 6-generation family, 25 affecteds (13F, 12M) - - China - - - - - 25 Muriel de La Dure-Molla
+/. 2i c.52-6T>G r.52_135del p.Val18_Glu45 Parent #1 - pathogenic g.88533251T>G g.87612099T>G - - DSPP_000007 - PubMed: Lee 2008 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control - PubMed: Lee 2008 - - - - - - - - - 1 Muriel de La Dure-Molla
+/+ 2i c.52-6T>G r.(=) p.(=) Parent #1 - pathogenic g.88533251T>G g.87612099T>G - - DSPP_000007 - MORL Deafness Variation Database, PubMed: Lee 2008, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Lee 2008, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 2i c.52-3C>A r.spl? p.? Parent #1 - pathogenic g.88510020C>A g.87588868C>A - - DSPP_000009 - PubMed: Holapa 2006 - - Germline - - - - - DNA SEQ - - DGI1 - PubMed: Holapa 2006 - - - - - - - - - 1 Muriel de La Dure-Molla
+/+ 2i c.52-3C>A r.spl? p.? Parent #1 - pathogenic g.88533254C>A g.87612102C>A - - DSPP_000009 - MORL Deafness Variation Database, PubMed: Holappa 2006, PubMed: Li 2012, PubMed: Lee 2011, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Holappa 2006, PubMed: Li 2012, PubMed: Lee 2011, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 2i c.52-3C>G r.spl? p.? Parent #1 - pathogenic g.88510020C>G g.87588868C>G - - DSPP_000008 - PubMed: Kim 2004 - - Germline - - - - - DNA SEQ - - DGI1 - PubMed: Kim 2004 - - - - - - - - - 1 Muriel de La Dure-Molla
+/+ 2i c.52-3C>G r.spl? p.? Parent #1 - pathogenic g.88533254C>G g.87612102C>G - - DSPP_000008 - MORL Deafness Variation Database, PubMed: Kim 2004, PubMed: Li 2012, PubMed: Lee 2011, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Kim 2004, PubMed: Li 2012, PubMed: Lee 2011, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.52-2A>G r.spl? p.? Unknown - pathogenic g.88533255A>G g.87612103A>G DSPP(NM_014208.3):c.52-2A>G - DSPP_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.52-2A>G r.spl? p.? Unknown - pathogenic g.88533255A>G - DSPP(NM_014208.3):c.52-2A>G - DSPP_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.52G>T r.(?) p.(Val18Phe) Parent #1 - pathogenic g.88510022G>T g.87588870G>T - - DSPP_000010 - PubMed: Xiao 2001 - - Germline - - - - - DNA SEQ - - DGI1 - PubMed: Xiao 2001 - - - - - - - - - 1 Muriel de La Dure-Molla
+/+ 3 c.52G>T r.(?) p.(Val18Phe) Parent #1 - pathogenic g.88533257G>T g.87612105G>T - - DSPP_000010 - MORL Deafness Variation Database, PubMed: Witkop CJ Jr 1988, PubMed: Xiao 2001, PubMed: Kim 2005, PubMed: von Marschall 2012, PubMed: Holappa 2006, PubMed: Li 2012, PubMed: Lee 2011, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Witkop CJ Jr 1988, PubMed: Xiao 2001, PubMed: Kim 2005, PubMed: von Marschall 2012, PubMed: Holappa 2006, PubMed: Li 2012, PubMed: Lee 2011, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.52G>T r.(?) p.(Val18Phe) Maternal (confirmed) - pathogenic (dominant) g.88533257G>T g.87612105G>T - - DSPP_000010 - PubMed: Prasad 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - disease gene panel DGI V2.55 PubMed: Prasad 2016 - F - - - - - - - 1 Johan den Dunnen
+/. 3 c.53T>A r.(?) p.(Val18Asp) Parent #1 - pathogenic g.88510023T>A g.87588871T>A - - DSPP_000011 - PubMed: Lee 2009 - - Germline - - - - - DNA SEQ - - DGI1 - PubMed: Lee 2009 - - - - - - - - - 1 Muriel de La Dure-Molla
+/+ 3 c.53T>A r.(?) p.(Val18Asp) Parent #1 - pathogenic g.88533258T>A g.87612106T>A - - DSPP_000011 - MORL Deafness Variation Database, PubMed: Lee 2009, PubMed: Li 2012 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Lee 2009, PubMed: Li 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 3 c.133C>T r.(?) p.(Glu45*) Parent #1 - pathogenic g.88510103C>T g.87588951C>T - - DSPP_000012 - PubMed: Zhang 2001 - - Germline - - - - - DNA SEQ - - DGI1 - PubMed: Zhang 2001 - - - - - - - - - 1 Muriel de La Dure-Molla
+/+ 3 c.133C>T r.(?) p.(Gln45*) Parent #1 - pathogenic g.88533338C>T g.87612186C>T - - DSPP_000012 - MORL Deafness Variation Database, PubMed: Witkop CJ Jr 1988, PubMed: Zhang 2001, PubMed: Li 2012, PubMed: Hart 2009, PubMed: Lee 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Witkop CJ Jr 1988, PubMed: Zhang 2001, PubMed: Li 2012, PubMed: Hart 2009, PubMed: Lee 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 3i c.135+1G>A r.spl p.? Parent #1 - pathogenic g.88533341G>A g.87612189G>A - - DSPP_000013 - PubMed: Xiao 2001 - - Germline - - - - - DNA SEQ - - DGI1 - PubMed: Xiao 2001 - - - - - - - - - 1 Muriel de La Dure-Molla
+/+ 3i c.135+1G>A r.spl? p.? Parent #1 - pathogenic g.88533341G>A g.87612189G>A - - DSPP_000013 - MORL Deafness Variation Database, PubMed: Xiao 2001, PubMed: Li 2012, PubMed: Lee 2011, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Xiao 2001, PubMed: Li 2012, PubMed: Lee 2011, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 3i c.135+1G>T r.spl p.? Parent #1 - pathogenic g.88533341G>T g.87612189G>T - - DSPP_000014 - PubMed: McKnight 2008 - - Germline - - - - - DNA SEQ - - DGI1 - PubMed: McKnight 2008 - - - - - - - - - 1 Muriel de La Dure-Molla
+/+ 3i c.135+1G>T r.spl? p.? Parent #1 - pathogenic g.88533341G>T g.87612189G>T - - DSPP_000014 - MORL Deafness Variation Database, PubMed: McKnight 2008, PubMed: Li 2012, PubMed: Lee 2011, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: McKnight 2008, PubMed: Li 2012, PubMed: Lee 2011, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 3i c.135+2T>C r.spl p.? Parent #1 - pathogenic g.88533342T>C g.87612190T>C - - DSPP_000015 - PubMed: Zhang 2001 - - Germline - - - - - DNA SEQ - - DGI1 - PubMed: Zhang 2001 - - - - - - - - - 1 Muriel de La Dure-Molla
+/+ 3i c.135+2T>C r.spl? p.? Parent #1 - pathogenic g.88533342T>C g.87612190T>C - - DSPP_000015 - MORL Deafness Variation Database, PubMed: Zhang 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Zhang 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 3i c.135+3A>G r.spl? p.? Parent #1 - pathogenic g.88510108A>G g.87588956A>G - - DSPP_000016 - PubMed: Bai 2010 - - Germline - - - - - DNA SEQ - - DGI1 - PubMed: Bai 2010 - - - - - - - - - 1 Muriel de La Dure-Molla
+/+ 3i c.135+3A>G r.spl? p.? Parent #1 - pathogenic g.88533343A>G g.87612191A>G - - DSPP_000016 - MORL Deafness Variation Database, PubMed: Bai 2010, PubMed: Li 2012, PubMed: Xiong 2015 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Bai 2010, PubMed: Li 2012, PubMed: Xiong 2015 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.180G>T r.(?) p.(Leu60=) Unknown - likely benign g.88533518G>T g.87612366G>T DSPP(NM_014208.3):c.180G>T (p.L60=) - DSPP_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.202A>T r.(?) p.(Arg68Trp) Parent #1 - pathogenic g.88510303A>T g.87589151A>T - - DSPP_000017 - PubMed: Malmgren 2004 - - Germline - - - - - DNA SEQ - - DGI1 - PubMed: Malmgren 2004 - - - - - - - - - 1 Muriel de La Dure-Molla
-/. - c.202A>T r.(?) p.(Arg68Trp) Unknown - benign g.88533540A>T g.87612388A>T DSPP(NM_014208.3):c.202A>T (p.R68W) - DSPP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.202A>T r.(?) p.(Arg68Trp) Unknown - benign g.88533540A>T - DSPP(NM_014208.3):c.202A>T (p.R68W) - DSPP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.263T>G r.(?) p.(Val88Gly) Unknown - VUS g.88533601T>G - DSPP(NM_014208.3):c.263T>G (p.V88G) - DSPP_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.303C>T r.(?) p.(Asn101=) Unknown - benign g.88533641C>T g.87612489C>T DSPP(NM_014208.3):c.303C>T (p.N101=) - DSPP_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.368G>C r.(?) p.(Gly123Ala) Unknown - likely benign g.88533706G>C - DSPP(NM_014208.3):c.368G>C (p.G123A) - DSPP_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.769G>A r.(?) p.(Glu257Lys) Unknown - likely benign g.88534107G>A g.87612955G>A DSPP(NM_014208.3):c.769G>A (p.E257K) - DSPP_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.776C>T r.(?) p.(Ser259Phe) Unknown - likely pathogenic (dominant) g.88534114C>T g.87612962C>T - - DSPP_000250 - PubMed: Boucher 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - HL 6708 PubMed: Boucher 2020 - - - France - - - - - 1 Johan den Dunnen
-?/. - c.802G>T r.(?) p.(Gly268Trp) Unknown - likely benign g.88534140G>T g.87612988G>T DSPP(NM_014208.3):c.802G>T (p.(Gly268Trp)) - DSPP_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.876T>C r.(?) p.(Asp292=) Unknown - likely benign g.88534214T>C g.87613062T>C DSPP(NM_014208.3):c.876T>C (p.D292=) - DSPP_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.897A>G r.(?) p.(Ser299=) Unknown - benign g.88534235A>G g.87613083A>G DSPP(NM_014208.3):c.897A>G (p.S299=) - DSPP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.897A>G r.(?) p.(Ser299=) Unknown - benign g.88534235A>G g.87613083A>G DSPP(NM_014208.3):c.897A>G (p.S299=) - DSPP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.903T>G r.(?) p.(Ser301Arg) Unknown - VUS g.88534241T>G g.87613089T>G DSPP(NM_014208.3):c.903T>G (p.S301R) - DSPP_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.988G>A r.(?) p.(Ala330Thr) Unknown - likely benign g.88534326G>A - DSPP(NM_014208.3):c.988G>A (p.A330T) - DSPP_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1046A>G r.(?) p.(His349Arg) Unknown - likely benign g.88534384A>G - DSPP(NM_014208.3):c.1046A>G (p.(His349Arg)) - DSPP_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1060C>T r.(?) p.(Arg354Cys) Unknown - likely benign g.88534398C>T g.87613246C>T DSPP(NM_014208.3):c.1060C>T (p.R354C, p.(Arg354Cys)) - DSPP_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1060C>T r.(?) p.(Arg354Cys) Unknown - likely benign g.88534398C>T g.87613246C>T DSPP(NM_014208.3):c.1060C>T (p.R354C, p.(Arg354Cys)) - DSPP_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1063G>A r.(?) p.(Val355Ile) Unknown - benign g.88534401G>A g.87613249G>A DSPP(NM_014208.3):c.1063G>A (p.V355I) - DSPP_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1073G>C r.(?) p.(Arg358Thr) Unknown - likely benign g.88534411G>C g.87613259G>C DSPP(NM_014208.3):c.1073G>C (p.R358T) - DSPP_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1156A>C r.(?) p.(Arg386=) Unknown - likely benign g.88534970A>C g.87613818A>C DSPP(NM_014208.3):c.1156A>C (p.R386=) - DSPP_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1326T>C r.(?) p.(Gly442=) Unknown - benign g.88535140T>C g.87613988T>C DSPP(NM_014208.3):c.1326T>C (p.G442=) - DSPP_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1378A>T r.(?) p.(Met460Leu) Unknown - likely benign g.88535192A>T - DSPP(NM_014208.3):c.1378A>T (p.(Met460Leu)) - DSPP_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1411T>C r.(?) p.(Ser471Pro) Unknown - VUS g.88535225T>C g.87614073T>C DSPP(NM_014208.3):c.1411T>C (p.S471P) - DSPP_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1575C>T r.(?) p.(Asp525=) Unknown - likely benign g.88535389C>T g.87614237C>T DSPP(NM_014208.3):c.1575C>T (p.D525=) - DSPP_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1628G>A r.(?) p.(Gly543Asp) Unknown - VUS g.88535442G>A g.87614290G>A DSPP(NM_014208.3):c.1628G>A (p.G543D) - DSPP_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.1686del r.(?) p.(Asp562GlufsTer752) Parent #1 - pathogenic (dominant) g.88535500del g.87614348del 1686delT - DSPP_000018 - PubMed: Nieminen 2011 - - Germline - - - - - DNA SEQ - - DTDP2 Fam1PatI1 PubMed: Nieminen 2011 family - - Finland - - - - - 1 Muriel de La Dure-Molla
-?/. - c.1686T>C r.(?) p.(Asp562=) Unknown - likely benign g.88535500T>C g.87614348T>C DSPP(NM_014208.3):c.1686T>C (p.D562=) - DSPP_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1812_1820del r.(?) p.(Ser620_Ser622del) Unknown - likely benign g.88535626_88535634del g.87614474_87614482del DSPP(NM_014208.3):c.1812_1820delTAGTGACAG (p.S620_S622del) - DSPP_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.1830del r.(?) p.(Ser610ArgfsTer704) Parent #1 - pathogenic g.88535644del g.87614492del 1830delC - DSPP_000019 - PubMed: Nieminen 2011 - - Germline - - - - - DNA SEQ - - DTDP2 Fam2PatII1 PubMed: Nieminen 2011 family, 2 affected - - France - - - - - 2 Muriel de La Dure-Molla
+/. - c.1830del r.(?) p.(Ser610Argfs*704) Parent #1 - pathogenic (dominant) g.88535644del g.87614492del 1830delC - DSPP_000019 - PubMed: Nieminen 2011 - - Germline yes - - - - DNA SEQ - - DTDP Fam2PatII2 PubMed: Nieminen 2011 relative - - France - - - - - 1 Johan den Dunnen
+/. 5 c.1870_1873del r.(?) p.(Ser624ThrfsTer689) Parent #1 - pathogenic g.88535684_88535687del g.87614532_87614535del - - DSPP_000020 - PubMed: McKnight 2008 - - Germline - - - - - DNA SEQ - - DTDP2 - PubMed: McKnight 2008 - - - - - - - - - 1 Muriel de La Dure-Molla
+/+ 5 c.1870_1873del r.(?) p.(Ser624Thrfs*689) Parent #1 - pathogenic g.88535684_88535687del g.87614532_87614535del - - DSPP_000215 - MORL Deafness Variation Database, PubMed: McKnight 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: McKnight 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1893C>T r.(?) p.(Ser631=) Unknown - likely benign g.88535707C>T - DSPP(NM_014208.3):c.1893C>T (p.S631=) - DSPP_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.1918_1921del r.(?) p.(Ser640Thrfs*673) Parent #1 - pathogenic g.88535732_88535735del g.87614580_87614583del 1918_1921delTCAG - DSPP_000021 - PubMed: McKnight 2008 - - Germline - - - - - DNA SEQ - - DTDP2 - PubMed: McKnight 2008 - - - - - - - - - 1 Muriel de La Dure-Molla
+/+ 5 c.1918_1921del r.(?) p.(Ser640Thrfs*673) Parent #1 - pathogenic g.88535732_88535735del g.87614580_87614583del - - DSPP_000216 - MORL Deafness Variation Database, PubMed: McKnight 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: McKnight 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1918_1921del r.(?) p.(Ser640Thrfs*673) Parent #1 - pathogenic (dominant) g.88535732_88535735del g.87614580_87614583del 1918-1921delTCAG - DSPP_000021 - PubMed: Nieminen 2011 - - Germline - - - - - DNA SEQ - - DGI Fam3PatII1 PubMed: Nieminen 2011 family - - Greece - - - - - 1 Johan den Dunnen
+/. - c.1918_1921del r.(?) p.(Ser640Thrfs*673) Parent #1 - pathogenic (dominant) g.88535732_88535735del g.87614580_87614583del 1918-1921delTCAG - DSPP_000021 - PubMed: Nieminen 2011 - - Germline - - - - - DNA SEQ - - DGI Fam4PatI1 PubMed: Nieminen 2011 family - - Greece - - - - - 1 Johan den Dunnen
+/. - c.1918_1921del r.(?) p.(Ser640Thrfs*673) Parent #1 - pathogenic (dominant) g.88535732_88535735del g.87614580_87614583del 1918-1921delTCAG - DSPP_000021 - PubMed: Nieminen 2011 - - Germline - - - - - DNA SEQ - - DGI Fam5PatI1 PubMed: Nieminen 2011 family - - Greece - - - - - 1 Johan den Dunnen
+/. 5 c.1922_1925del r.(?) p.(Asp641AlafsTer672) Parent #1 - pathogenic (dominant) g.88535736_88535739del g.87614584_87614587del 1922-1925delACAG - DSPP_000022 - PubMed: Nieminen 2011 - - Germline - - - - - DNA SEQ - - DTDP2 Fam6PatI2 PubMed: Nieminen 2011 family, 2 affected - - Finland - - - - - 2 Muriel de La Dure-Molla
+/. - c.1922_1925del r.(?) p.(Asp641Alafs*672) Parent #1 - pathogenic (dominant) g.88535736_88535739del g.87614584_87614587del 1922-1925delACAG - DSPP_000022 - PubMed: Nieminen 2011 - - Germline yes - - - - DNA SEQ - - DTDP Fam6PatII1 PubMed: Nieminen 2011 relative - - Finland - - - - - 1 Johan den Dunnen
-/. - c.1971C>T r.(?) p.(Ser657=) Unknown - benign g.88535785C>T g.87614633C>T - - DSPP_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2004T>C r.(?) p.(Ser668=) Unknown - likely benign g.88535818T>C g.87614666T>C DSPP(NM_014208.3):c.2004T>C (p.S668=) - DSPP_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2004_2005insGACAGC r.(?) p.(Asp667_Ser668dup) Unknown - likely benign g.88535818_88535819insGACAGC g.87614666_87614667insGACAGC DSPP(NM_014208.3):c.2004_2005insGACAGC (p.D667_S668dup) - DSPP_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2005_2007del r.(?) p.(Ser669del) Unknown - VUS g.88535819_88535821del g.87614667_87614669del DSPP(NM_014208.3):c.2005_2007delAGT (p.S669del) - DSPP_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2009A>G r.(?) p.(Asp670Gly) Unknown - likely benign g.88535823A>G - DSPP(NM_014208.3):c.2009A>G (p.(Asp670Gly)) - DSPP_000269 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2010C>T r.(?) p.(Asp670=) Unknown - likely benign g.88535824C>T g.87614672C>T DSPP(NM_014208.3):c.2010C>T (p.D670=) - DSPP_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2012G>A r.(?) p.(Ser671Asn) Unknown - likely benign g.88535826G>A g.87614674G>A DSPP(NM_014208.3):c.2012G>A (p.S671N, p.(Ser671Asn)) - DSPP_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2012G>A r.(?) p.(Ser671Asn) Unknown - likely benign g.88535826G>A g.87614674G>A DSPP(NM_014208.3):c.2012G>A (p.S671N, p.(Ser671Asn)) - DSPP_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2016T>C r.(?) p.(Ser672=) Unknown - likely benign g.88535830T>C g.87614678T>C DSPP(NM_014208.3):c.2016T>C (p.S672=) - DSPP_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2017G>A r.(?) p.(Asp673Asn) Unknown - likely benign g.88535831G>A g.87614679G>A DSPP(NM_014208.3):c.2017G>A (p.D673N) - DSPP_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2018A>G r.(?) p.(Asp673Gly) Unknown - likely benign g.88535832A>G g.87614680A>G DSPP(NM_014208.3):c.2018A>G (p.D673G) - DSPP_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2018_2019insCAGCAGCAG r.(?) p.(Ser675_Asp676insSerSerSer) Unknown - VUS g.88535832_88535833insCAGCAGCAG g.87614680_87614681insCAGCAGCAG DSPP(NM_014208.3):c.2018_2019insCAGCAGCAG (p.(Asp673_Ser674insSerSerSer)), DSPP(NM_014208.3):c.2018_2019insCAGCAGCAG (p.S675_D676insSSS) - DSPP_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2018_2019insCAGCAGCAG r.(?) p.(Ser675_Asp676insSerSerSer) Unknown - likely benign g.88535832_88535833insCAGCAGCAG g.87614680_87614681insCAGCAGCAG DSPP(NM_014208.3):c.2018_2019insCAGCAGCAG (p.(Asp673_Ser674insSerSerSer)), DSPP(NM_014208.3):c.2018_2019insCAGCAGCAG (p.S675_D676insSSS) - DSPP_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2036_2053dup r.(?) p.(Ser679_Ser684dup) Unknown - benign g.88535850_88535867dup g.87614698_87614715dup DSPP(NM_014208.3):c.2018_2019insTAGCAGTGACAGCAGCAG (p.(Asp673_Ser674insSerSerAspSerSerSer)), DSPP(NM_014208.3):c.2036_2053dupGTAGCAGTGACAGCAGCA (p...) - DSPP_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2036_2053dup r.(?) p.(Ser679_Ser684dup) Unknown - benign g.88535850_88535867dup g.87614698_87614715dup DSPP(NM_014208.3):c.2018_2019insTAGCAGTGACAGCAGCAG (p.(Asp673_Ser674insSerSerAspSerSerSer)), DSPP(NM_014208.3):c.2036_2053dupGTAGCAGTGACAGCAGCA (p...) - DSPP_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2036_2053dup r.(?) p.(Ser679_Ser684dup) Unknown - benign g.88535850_88535867dup - DSPP(NM_014208.3):c.2018_2019insTAGCAGTGACAGCAGCAG (p.(Asp673_Ser674insSerSerAspSerSerSer)), DSPP(NM_014208.3):c.2036_2053dupGTAGCAGTGACAGCAGCA (p...) - DSPP_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2038_2043del r.(?) p.(Ser680_Ser681del) Unknown - benign g.88535852_88535857del g.87614700_87614705del DSPP(NM_014208.3):c.2038_2043delAGCAGT (p.S680_S681del) - DSPP_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.2040del r.(?) p.(Ser680ArgfsTer634) Parent #1 - pathogenic g.88535854del g.87614702del - - DSPP_000023 - PubMed: Song 2008 - - Germline - - - - - DNA SEQ - - DTDP2 - PubMed: Song 2008 - - - - - - - - - 1 Muriel de La Dure-Molla
+/+ 5 c.2040del r.(?) p.(Ser680Argfs*634) Parent #1 - pathogenic g.88535854del g.87614702del - - DSPP_000218 - MORL Deafness Variation Database, PubMed: Song 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Song 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.2054A>G r.(?) p.(Asn685Ser) Unknown - likely benign g.88535868A>G - DSPP(NM_014208.3):c.2054A>G (p.(Asn685Ser)) - DSPP_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.2063del r.(?) p.(Asp688Valfs*626) Parent #1 - pathogenic (dominant) g.88535877del g.87614725del 2063delA - DSPP_000024 - PubMed: Nieminen 2011 - - Germline - - - - - DNA SEQ - - DTDP2 Fam7PatII1 PubMed: Nieminen 2011 family - - Finland - - - - - 1 Muriel de La Dure-Molla
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