Full data view for gene SIX5

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

42 entries on 1 page. Showing entries 1 - 42.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-3874C>G benign r.(?) p.(=) Unknown g.46275976G>C - DMPK(NM_001081563.2):c.1297C>G (p.L433V) - DMPK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-2969G>T VUS r.(?) p.(=) Unknown g.46275071C>A - DMPK(NM_001081563.2):c.1490G>T (p.R497L) - DMPK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-2952C>T VUS r.(?) p.(=) Unknown g.46275054G>A - DMPK(NM_001081563.2):c.1507C>T (p.R503C) - DMPK_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2814C>T VUS r.(?) p.(=) Unknown g.46274916G>A - DMPK(NM_001081560.1):c.1495C>T (p.(Arg499Cys), p.(Arg514Cys), p.(Arg504Cys)) - DMPK_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2785A>C likely benign r.(?) p.(=) Unknown g.46274887T>G - DMPK(NM_001081563.2):c.1569A>C (p.L523=) - DMPK_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2559C>T likely benign r.(?) p.(=) Unknown g.46274661G>A - DMPK(NM_001081563.2):c.1631-7C>T - DMPK_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2150C>T likely benign r.(?) p.(=) Unknown g.46274252G>A - DMPK(NM_001081560.1):c.1699C>T (p.(Arg567Cys), p.(=), p.(Arg582Cys), p.(Arg572Cys)) - DMPK_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1719C>G likely benign r.(?) p.(=) Unknown g.46273821G>C - DMPK(NM_001081560.1):c.1800C>G (p.(=), p.(Ala599Gly)) - DMPK_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1690A>C likely benign r.(?) p.(=) Unknown g.46273792T>G - DMPK(NM_001081560.1):c.1829A>C (p.(Gln610Pro), p.(Asn609His), p.(Gln625Pro), p.(Gln615Pro)) - DMPK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1686C>T likely benign r.(?) p.(=) Unknown g.46273788G>A - DMPK(NM_001081562.2):c.1829C>T (p.S610L) - DMPK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1668C>T likely benign r.(?) p.(=) Unknown g.46273770G>A - DMPK(NM_001081560.1):c.1851C>T (p.(=), p.(Ala616Val)) - DMPK_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.43G>T VUS r.(?) p.(Gly15Trp) Unknown g.46272060C>A - SIX5(NM_175875.4):c.43G>T (p.(Gly15Trp)) - SIX5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.81G>A likely benign r.(?) p.(=) Unknown g.46272022C>T - SIX5(NM_175875.4):c.81G>A (p.E27=) - SIX5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.213G>T likely benign r.(?) p.(=) Unknown g.46271890C>A - SIX5(NM_175875.4):c.213G>T (p.G71=) - DMPK_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.675C>A - r.(?) p.(Tyr225*) Maternal (confirmed) 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 benign r.(?) p.(=) Unknown g.46271371C>T - (p.=) - SIX5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.732G>A likely benign r.(?) p.(=) Unknown g.46271371C>T - (p.=) - SIX5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.886G>A likely benign r.(?) p.(Ala296Thr) Unknown g.46270331C>T - SIX5(NM_175875.3):c.886G>A (p.Ala296Thr) - SIX5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.886G>A likely benign r.(?) p.(Ala296Thr) Unknown g.46270331C>T - SIX5(NM_175875.3):c.886G>A (p.Ala296Thr) - SIX5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.947C>G VUS r.(?) p.(Pro316Arg) Unknown g.46270270G>C - SIX5(NM_175875.4):c.947C>G (p.P316R) - DMPK_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1091G>T VUS r.(?) p.(Gly364Val) Unknown g.46270126C>A - SIX5(NM_175875.4):c.1091G>T (p.(Gly364Val)) - SIX5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1426C>T VUS r.(?) p.(Pro476Ser) Unknown g.46269791G>A - SIX5(NM_175875.4):c.1426C>T (p.P476S) - DMPK_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1466A>G likely benign r.(?) p.(Gln489Arg) Unknown g.46269751T>C - SIX5(NM_175875.4):c.1466A>G (p.(Gln489Arg)) - DMPK_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1478C>T likely benign r.(?) p.(Pro493Leu) Unknown g.46269739G>A - SIX5(NM_175875.4):c.1478C>T (p.Pro493Leu) - SIX5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1498G>A likely benign r.(?) p.(Gly500Arg) Unknown g.46269719C>T - SIX5(NM_175875.4):c.1498G>A (p.Gly500Arg) - DMPK_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1617C>T likely benign r.(?) p.(=) Unknown g.46269362G>A - SIX5(NM_175875.4):c.1617C>T (p.F539=) - DMPK_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1655C>T VUS r.(?) p.(Thr552Met) Unknown g.46269324G>A - SIX5(NM_175875.4):c.1655C>T (p.Thr552Met) - SIX5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1656G>A likely benign r.(?) p.(=) Unknown g.46269323C>T - SIX5(NM_175875.4):c.1656G>A (p.T552=) - SIX5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1666C>G benign r.(?) p.(Leu556Val) Unknown g.46269313G>C - SIX5(NM_175875.4):c.1666C>G (p.L556V) - SIX5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1685T>C likely benign r.(?) p.(Ile562Thr) Unknown g.46269294A>G - SIX5(NM_175875.4):c.1685T>C (p.(Ile562Thr)) - DMPK_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1773G>T likely benign r.(?) p.(=) Unknown g.46269206C>A - SIX5(NM_175875.4):c.1773G>T (p.T591=) - SIX5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1903C>T benign r.(?) p.(Pro635Ser) Unknown g.46269076G>A - SIX5(NM_175875.4):c.1903C>T (p.P635S) - SIX5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1903C>T benign r.(?) p.(Pro635Ser) Unknown g.46269076G>A - SIX5(NM_175875.4):c.1903C>T (p.P635S) - SIX5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1963C>T benign r.(?) p.(=) Unknown g.46269016G>A - SIX5(NM_175875.4):c.1963C>T (p.L655=) - DMPK_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1978G>A likely benign r.(?) p.(Ala660Thr) Unknown g.46269001C>T - SIX5(NM_175875.4):c.1978G>A (p.A660T) - DMPK_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1979C>A benign r.(?) p.(Ala660Glu) Unknown g.46269000G>T - SIX5(NM_175875.4):c.1979C>A (p.A660E) - SIX5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1983C>T likely benign r.(?) p.(=) Unknown g.46268996G>A - SIX5(NM_175875.4):c.1983C>T (p.A661=) - DMPK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2015G>A VUS r.(?) p.(Ser672Asn) Unknown g.46268964C>T - SIX5(NM_175875.4):c.2015G>A (p.S672N) - SIX5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2077G>A benign r.(?) p.(Val693Met) Unknown g.46268902C>T - SIX5(NM_175875.4):c.2077G>A (p.V693M) - SIX5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2077G>A benign r.(?) p.(Val693Met) Unknown g.46268902C>T - SIX5(NM_175875.4):c.2077G>A (p.V693M) - SIX5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2077G>A benign r.(?) p.(Val693Met) Unknown g.46268902C>T - SIX5(NM_175875.4):c.2077G>A (p.V693M) - SIX5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2088G>A likely benign r.(?) p.(=) Unknown g.46268891C>T - SIX5(NM_175875.4):c.2088G>A (p.L696=) - SIX5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend