Unique variants in gene SIX5

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

41 entries on 1 page. Showing entries 1 - 41.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
-/. 1 - c.-3874C>G benign r.(?) p.(=) g.46275976G>C - DMPK(NM_001081563.2):c.1297C>G (p.L433V) - DMPK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-2969G>T VUS r.(?) p.(=) g.46275071C>A - DMPK(NM_001081563.2):c.1490G>T (p.R497L) - DMPK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-2952C>T VUS r.(?) p.(=) g.46275054G>A - DMPK(NM_001081563.2):c.1507C>T (p.R503C) - DMPK_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-2785A>C likely benign r.(?) p.(=) g.46274887T>G - DMPK(NM_001081563.2):c.1569A>C (p.L523=) - DMPK_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-2559C>T likely benign r.(?) p.(=) g.46274661G>A - DMPK(NM_001081563.2):c.1631-7C>T - DMPK_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-1719C>G likely benign r.(?) p.(=) g.46273821G>C - DMPK(NM_001081560.1):c.1800C>G (p.(=)) - DMPK_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-1686C>T likely benign r.(?) p.(=) g.46273788G>A - DMPK(NM_001081562.2):c.1829C>T (p.S610L) - DMPK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.43G>A likely benign r.(?) p.(Gly15Arg) g.46272060C>T - SIX5(NM_175875.4):c.43G>A (p.(Gly15Arg)) - DMPK_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.43G>T VUS r.(?) p.(Gly15Trp) g.46272060C>A - SIX5(NM_175875.4):c.43G>T (p.(Gly15Trp)) - SIX5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.81G>A likely benign r.(?) p.(=) g.46272022C>T - SIX5(NM_175875.4):c.81G>A (p.E27=) - SIX5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.213G>T likely benign r.(?) p.(=) g.46271890C>A - SIX5(NM_175875.4):c.213G>T (p.G71=) - DMPK_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.224A>C likely benign r.(?) p.(Glu75Ala) g.46271879T>G - SIX5(NM_175875.4):c.224A>C (p.E75A) - DMPK_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.226G>C likely benign r.(?) p.(Ala76Pro) g.46271877C>G - SIX5(NM_175875.4):c.226G>C (p.A76P) - DMPK_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 1 c.472G>A Pathogenic r.(?) p.(Ala158Thr) g.46271631C>T - - - SIX5_000020 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/. 1 - c.675C>A - r.(?) p.(Tyr225*) g.46271428G>T g.45768170G>T - - SIX5_000001 - PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - - Germline - - - - - Johan den Dunnen
-/., -?/. 2 - c.732G>A benign, likely benign r.(?) p.(=) g.46271371C>T - SIX5(NM_175875.4):c.732G>A (p.Q244=) - SIX5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
-?/., +/+ 3 2 c.886G>A likely benign, Pathogenic r.(?) p.(Ala296Thr) g.46270331C>T - SIX5(NM_175875.4):c.886G>A (p.A296T) - SIX5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_Nijmegen, LOVD-team, but with Curator vacancy, VKGL-NL_Rotterdam
?/. 1 - c.947C>G VUS r.(?) p.(Pro316Arg) g.46270270G>C - SIX5(NM_175875.4):c.947C>G (p.P316R) - DMPK_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1014C>A likely benign r.(?) p.(=) g.46270203G>T - SIX5(NM_175875.4):c.1014C>A (p.L338=) - DMPK_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.1091G>T VUS r.(?) p.(Gly364Val) g.46270126C>A - SIX5(NM_175875.4):c.1091G>T (p.G364V, p.(Gly364Val)) - SIX5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/+ 1 2 c.1093G>A Pathogenic r.(?) p.(Gly365Arg) g.46270124C>T - - - SIX5_000019 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
+/. 1 - c.1186G>T pathogenic r.(?) p.(Glu396*) g.46270031C>A - SIX5(NM_175875.4):c.1186G>T (p.E396*) - DMPK_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1425G>T likely benign r.(?) p.(=) g.46269792C>A - SIX5(NM_175875.4):c.1425G>T (p.L475=) - DMPK_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1426C>T VUS r.(?) p.(Pro476Ser) g.46269791G>A - SIX5(NM_175875.4):c.1426C>T (p.P476S) - DMPK_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1478C>T likely benign r.(?) p.(Pro493Leu) g.46269739G>A - - - SIX5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1498G>A likely benign r.(?) p.(Gly500Arg) g.46269719C>T - - - DMPK_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1617C>T likely benign r.(?) p.(=) g.46269362G>A - SIX5(NM_175875.4):c.1617C>T (p.F539=) - DMPK_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., +/+ 2 3 c.1655C>T VUS, Pathogenic r.(?) p.(Thr552Met) g.46269324G>A - - - SIX5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL, LOVD-team, but with Curator vacancy
-?/. 1 - c.1656G>A likely benign r.(?) p.(=) g.46269323C>T - SIX5(NM_175875.4):c.1656G>A (p.T552=) - SIX5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1666C>G benign r.(?) p.(Leu556Val) g.46269313G>C - SIX5(NM_175875.4):c.1666C>G (p.L556V) - SIX5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1685T>C likely benign r.(?) p.(Ile562Thr) g.46269294A>G - - - DMPK_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1773G>T likely benign r.(?) p.(=) g.46269206C>A - SIX5(NM_175875.4):c.1773G>T (p.T591=) - SIX5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 3 c.1817C>T Pathogenic r.(?) p.(Pro606Leu) g.46269162G>A - - - SIX5_000018 - - - - SUMMARY record - - - - - LOVD-team, but with Curator vacancy
-/. 2 - c.1903C>T benign r.(?) p.(Pro635Ser) g.46269076G>A - SIX5(NM_175875.4):c.1903C>T (p.P635S) - SIX5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Utrecht
-/. 1 - c.1963C>T benign r.(?) p.(=) g.46269016G>A - SIX5(NM_175875.4):c.1963C>T (p.L655=) - DMPK_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1978G>A likely benign r.(?) p.(Ala660Thr) g.46269001C>T - SIX5(NM_175875.4):c.1978G>A (p.A660T) - DMPK_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1979C>A benign r.(?) p.(Ala660Glu) g.46269000G>T - SIX5(NM_175875.4):c.1979C>A (p.A660E) - SIX5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1983C>T likely benign r.(?) p.(=) g.46268996G>A - SIX5(NM_175875.4):c.1983C>T (p.A661=) - DMPK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2015G>A VUS r.(?) p.(Ser672Asn) g.46268964C>T - SIX5(NM_175875.4):c.2015G>A (p.S672N) - SIX5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.2077G>A benign r.(?) p.(Val693Met) g.46268902C>T - SIX5(NM_175875.4):c.2077G>A (p.V693M) - SIX5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_Groningen
-?/. 1 - c.2088G>A likely benign r.(?) p.(=) g.46268891C>T - SIX5(NM_175875.4):c.2088G>A (p.L696=) - SIX5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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