Full data view for gene SIX5

Information The variants shown are described using the NM_175875.4 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
Legend  

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.-3874C>G r.(?) p.(=) Unknown - benign g.46275976G>C g.45772718G>C DMPK(NM_001081563.2):c.1297C>G (p.L433V) - DMPK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-2969G>T r.(?) p.(=) Unknown - VUS g.46275071C>A g.45771813C>A DMPK(NM_001081563.2):c.1490G>T (p.R497L) - DMPK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-2952C>T r.(?) p.(=) Unknown - VUS g.46275054G>A g.45771796G>A DMPK(NM_001081563.2):c.1507C>T (p.R503C) - DMPK_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2785A>C r.(?) p.(=) Unknown - likely benign g.46274887T>G g.45771629T>G DMPK(NM_001081563.2):c.1569A>C (p.L523=) - DMPK_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2559C>T r.(?) p.(=) Unknown - likely benign g.46274661G>A g.45771403G>A DMPK(NM_001081563.2):c.1631-7C>T - DMPK_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1719C>G r.(?) p.(=) Unknown - likely benign g.46273821G>C g.45770563G>C DMPK(NM_001081560.1):c.1800C>G (p.(=)) - DMPK_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1686C>T r.(?) p.(=) Unknown - likely benign g.46273788G>A g.45770530G>A DMPK(NM_001081562.2):c.1829C>T (p.S610L) - DMPK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.43G>A r.(?) p.(Gly15Arg) Unknown - likely benign g.46272060C>T g.45768802C>T SIX5(NM_175875.4):c.43G>A (p.(Gly15Arg)) - DMPK_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.43G>T r.(?) p.(Gly15Trp) Unknown - VUS g.46272060C>A g.45768802C>A SIX5(NM_175875.4):c.43G>T (p.(Gly15Trp)) - SIX5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.81G>A r.(?) p.(Glu27=) Unknown - likely benign g.46272022C>T g.45768764C>T SIX5(NM_175875.4):c.81G>A (p.E27=) - SIX5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.213G>T r.(?) p.(Gly71=) Unknown - likely benign g.46271890C>A g.45768632C>A SIX5(NM_175875.4):c.213G>T (p.G71=) - DMPK_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.224A>C r.(?) p.(Glu75Ala) Unknown - likely benign g.46271879T>G g.45768621T>G SIX5(NM_175875.4):c.224A>C (p.E75A) - DMPK_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.226G>C r.(?) p.(Ala76Pro) Unknown - likely benign g.46271877C>G g.45768619C>G SIX5(NM_175875.4):c.226G>C (p.A76P) - DMPK_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.472G>A r.(?) p.(Ala158Thr) Parent #1 - pathogenic g.46271631C>T g.45768373C>T - - SIX5_000020 - MORL Deafness Variation Database, PubMed: Hoskins 2007, PubMed: Smith 1993 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Hoskins 2007, PubMed: Smith 1993 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.675C>A r.(?) p.(Tyr225*) Maternal (confirmed) - pathogenic g.46271428G>T g.45768170G>T - - SIX5_000001 - PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - - Germline - - - 0 - DNA SEQ - WES CAKUT 29100090-FamDC7 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 2-genertion family, heterozygous carrier mother M - - - - 0 - - 2 Johan den Dunnen
-/. - c.732G>A r.(?) p.(Gln244=) Unknown - benign g.46271371C>T g.45768113C>T SIX5(NM_175875.4):c.732G>A (p.Q244=) - SIX5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.732G>A r.(?) p.(Gln244=) Unknown - likely benign g.46271371C>T g.45768113C>T SIX5(NM_175875.4):c.732G>A (p.Q244=) - SIX5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.886G>A r.(?) p.(Ala296Thr) Unknown - likely benign g.46270331C>T g.45767073C>T SIX5(NM_175875.4):c.886G>A (p.A296T) - SIX5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.886G>A r.(?) p.(Ala296Thr) Unknown - likely benign g.46270331C>T g.45767073C>T SIX5(NM_175875.4):c.886G>A (p.A296T) - SIX5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.886G>A r.(?) p.(Ala296Thr) Parent #1 - pathogenic g.46270331C>T g.45767073C>T - - SIX5_000016 - MORL Deafness Variation Database, PubMed: Hoskins 2007, PubMed: Smith 1993 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Hoskins 2007, PubMed: Smith 1993 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.947C>G r.(?) p.(Pro316Arg) Unknown - VUS g.46270270G>C g.45767012G>C SIX5(NM_175875.4):c.947C>G (p.P316R) - DMPK_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1014C>A r.(?) p.(Leu338=) Unknown - likely benign g.46270203G>T g.45766945G>T SIX5(NM_175875.4):c.1014C>A (p.L338=) - DMPK_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1091G>T r.(?) p.(Gly364Val) Unknown - VUS g.46270126C>A g.45766868C>A SIX5(NM_175875.4):c.1091G>T (p.G364V, p.(Gly364Val)) - SIX5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1091G>T r.(?) p.(Gly364Val) Unknown - VUS g.46270126C>A g.45766868C>A SIX5(NM_175875.4):c.1091G>T (p.G364V, p.(Gly364Val)) - SIX5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.1093G>A r.(?) p.(Gly365Arg) Parent #1 - pathogenic g.46270124C>T g.45766866C>T - - SIX5_000019 - MORL Deafness Variation Database, PubMed: Hoskins 2007, PubMed: Smith 1993 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Hoskins 2007, PubMed: Smith 1993 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.1186G>T r.(?) p.(Glu396Ter) Unknown - pathogenic g.46270031C>A g.45766773C>A SIX5(NM_175875.4):c.1186G>T (p.E396*) - DMPK_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1425G>T r.(?) p.(Leu475=) Unknown - likely benign g.46269792C>A g.45766534C>A SIX5(NM_175875.4):c.1425G>T (p.L475=) - DMPK_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1426C>T r.(?) p.(Pro476Ser) Unknown - VUS g.46269791G>A g.45766533G>A SIX5(NM_175875.4):c.1426C>T (p.P476S) - DMPK_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1478C>T r.(?) p.(Pro493Leu) Unknown - likely benign g.46269739G>A g.45766481G>A - - SIX5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1498G>A r.(?) p.(Gly500Arg) Unknown - likely benign g.46269719C>T g.45766461C>T - - DMPK_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1617C>T r.(?) p.(Phe539=) Unknown - likely benign g.46269362G>A g.45766104G>A SIX5(NM_175875.4):c.1617C>T (p.F539=) - DMPK_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1655C>T r.(?) p.(Thr552Met) Unknown - VUS g.46269324G>A g.45766066G>A - - SIX5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.1655C>T r.(?) p.(Thr552Met) Parent #1 - pathogenic g.46269324G>A g.45766066G>A - - SIX5_000014 - MORL Deafness Variation Database, PubMed: Hoskins 2007, PubMed: Smith 1993, PubMed: Krug 2011, PubMed: Hwang 2014 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Hoskins 2007, PubMed: Smith 1993, PubMed: Krug 2011, PubMed: Hwang 2014 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.1656G>A r.(?) p.(Thr552=) Unknown - likely benign g.46269323C>T g.45766065C>T SIX5(NM_175875.4):c.1656G>A (p.T552=) - SIX5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1666= r.(=) p.(Val556=) Unknown - benign g.46269313G>C g.45766055G>C SIX5(NM_175875.4):c.1666C>G (p.L556V) - SIX5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1685T>C r.(?) p.(Ile562Thr) Unknown - likely benign g.46269294A>G g.45766036A>G - - DMPK_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1773G>T r.(?) p.(Thr591=) Unknown - likely benign g.46269206C>A g.45765948C>A SIX5(NM_175875.4):c.1773G>T (p.T591=) - SIX5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.1817C>T r.(?) p.(Pro606Leu) Parent #1 - pathogenic g.46269162G>A g.45765904G>A - - SIX5_000018 - MORL Deafness Variation Database, PubMed: Hwang 2014 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Hwang 2014 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.1903C>T r.(?) p.(Pro635Ser) Unknown - benign g.46269076G>A g.45765818G>A SIX5(NM_175875.4):c.1903C>T (p.P635S) - SIX5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1903C>T r.(?) p.(Pro635Ser) Unknown - benign g.46269076G>A g.45765818G>A SIX5(NM_175875.4):c.1903C>T (p.P635S) - SIX5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1963C>T r.(?) p.(Leu655=) Unknown - benign g.46269016G>A g.45765758G>A SIX5(NM_175875.4):c.1963C>T (p.L655=) - DMPK_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1978G>A r.(?) p.(Ala660Thr) Unknown - likely benign g.46269001C>T g.45765743C>T SIX5(NM_175875.4):c.1978G>A (p.A660T) - DMPK_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1979C>A r.(?) p.(Ala660Glu) Unknown - benign g.46269000G>T g.45765742G>T SIX5(NM_175875.4):c.1979C>A (p.A660E) - SIX5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1983C>T r.(?) p.(Ala661=) Unknown - likely benign g.46268996G>A g.45765738G>A SIX5(NM_175875.4):c.1983C>T (p.A661=) - DMPK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2015G>A r.(?) p.(Ser672Asn) Unknown - VUS g.46268964C>T g.45765706C>T SIX5(NM_175875.4):c.2015G>A (p.S672N) - SIX5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2077G>A r.(?) p.(Val693Met) Unknown - benign g.46268902C>T g.45765644C>T SIX5(NM_175875.4):c.2077G>A (p.V693M) - SIX5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2077G>A r.(?) p.(Val693Met) Unknown - benign g.46268902C>T g.45765644C>T SIX5(NM_175875.4):c.2077G>A (p.V693M) - SIX5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2077G>A r.(?) p.(Val693Met) Unknown - benign g.46268902C>T g.45765644C>T SIX5(NM_175875.4):c.2077G>A (p.V693M) - SIX5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2088G>A r.(?) p.(Leu696=) Unknown - likely benign g.46268891C>T g.45765633C>T SIX5(NM_175875.4):c.2088G>A (p.L696=) - SIX5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend