Unique variants in the SIX3 gene

Information The variants shown are described using the NM_005413.3 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type/DNA     

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     

Owner     
-?/. 1 - c.42C>T r.(?) p.(Phe14=) - - likely benign g.45169285C>T g.44942146C>T SIX3(NM_005413.3):c.42C>T (p.F14=) - SIX3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.58G>T r.(?) p.(Ala20Ser) - - likely benign g.45169301G>T g.44942162G>T SIX3(NM_005413.3):c.58G>T (p.A20S) - SIX3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.80T>C r.(?) p.(Ile27Thr) - - likely benign g.45169323T>C g.44942184T>C SIX3(NM_005413.3):c.80T>C (p.I27T) - SIX3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.109G>T r.(?) p.(Gly37Cys) - - likely benign g.45169352G>T g.44942213G>T SIX3(NM_005413.3):c.109G>T (p.G37C) - SIX3_000033 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs199823175 CLASSIFICATION record, Germline - 1/2794 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
-?/. 1 - c.126_173del r.(?) p.(Gly43_Gly58del) - - likely benign g.45169369_45169416del g.44942230_44942277del SIX3(NM_005413.3):c.94_141del (p.(Gly34_Gly49del)) - SIX3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.151G>C r.(?) p.(Gly51Arg) - - VUS g.45169394G>C - SIX3(NM_005413.3):c.151G>C (p.G51R) - SIX3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.157G>T r.(?) p.(Gly53Cys) - - VUS g.45169400G>T g.44942261G>T SIX3(NM_005413.3):c.157G>T (p.G53C) - SIX3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.205_207del r.(?) p.(Gly69del) - - benign g.45169448_45169450del g.44942309_44942311del - - SIX3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 - c.206G>A r.(?) p.(Gly69Asp) - - likely benign, VUS g.45169449G>A g.44942310G>A SIX3(NM_005413.3):c.206G>A (p.G69D), SIX3(NM_005413.4):c.206G>A (p.G69D) - SIX3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.221C>G r.(?) p.(Pro74Arg) - - VUS g.45169464C>G - SIX3(NM_005413.3):c.221C>G (p.P74R) - SIX3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.235A>G r.(?) p.(Met79Val) - - pathogenic g.45169478A>G g.44942339A>G - - SIX3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.246G>T r.(?) p.(Leu82=) - - likely benign g.45169489G>T g.44942350G>T SIX3(NM_005413.3):c.246G>T (p.L82=) - SIX3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.263C>T r.(?) p.(Ser88Leu) - - likely benign g.45169506C>T g.44942367C>T SIX3(NM_005413.3):c.263C>T (p.S88L) - SIX3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.334C>T r.(?) p.(Leu112Phe) - - likely pathogenic g.45169577C>T - SIX3(NM_005413.3):c.334C>T (p.L112F) - SIX3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.338G>A r.(?) p.(Trp113Ter) - - pathogenic g.45169581G>A g.44942442G>A - - SIX3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.348C>T r.(?) p.(Pro116=) - - likely benign g.45169591C>T g.44942452C>T SIX3(NM_005413.3):c.348C>T (p.P116=) - SIX3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.369G>A r.(?) p.(Glu123=) - - likely benign g.45169612G>A - SIX3(NM_005413.3):c.369G>A (p.E123=) - SIX3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.402_416del r.(?) p.(Arg135_Ala139del) - ACMG pathogenic (dominant) g.45169645_45169659del g.44942506_44942520del - - SIX3_000040 ACMG PS2, PM2, PM4, PP4 PubMed: Marinakis 2021 - - De novo - - - - - Jan Traeger-Synodinos
+/. 1 - c.404_407dup r.(?) p.(Val137ArgfsTer18) - - pathogenic g.45169647_45169650dup g.44942508_44942511dup - - SIX3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.463_465del r.(?) p.(His155del) - - pathogenic g.45169706_45169708del g.44942567_44942569del - - SIX3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.525G>A r.(?) p.(Gln175=) - - benign g.45169768G>A g.44942629G>A - - SIX3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.576C>T r.(?) p.(Arg192=) - - benign g.45169819C>T g.44942680C>T SIX3(NM_005413.3):c.576C>T (p.R192=) - SIX3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.608T>C r.(?) p.(Ile203Thr) - - VUS g.45169851T>C g.44942712T>C - - SIX3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.659T>C r.(?) p.(Leu220Pro) - - likely pathogenic g.45169902T>C g.44942763T>C - - SIX3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.720G>T r.(?) p.(Ala240=) - - likely benign g.45169963G>T g.44942824G>T SIX3(NM_005413.3):c.720G>T (p.A240=) - SIX3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.736del r.(?) p.(Thr246LeufsTer5) - - pathogenic g.45169979del g.44942840del - - SIX3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.747A>C r.(?) p.(Gln249His) - - likely pathogenic g.45169990A>C g.44942851A>C - - SIX3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.754_756del r.(?) p.(Asn252del) - - likely pathogenic g.45169997_45169999del - SIX3(NM_005413.4):c.754_756delAAC (p.N252del) - SIX3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.769C>G r.(?) p.(Arg257Gly) - - pathogenic g.45170012C>G g.44942873C>G - - SIX3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.806G>C r.(?) p.(Arg269Thr) - - pathogenic g.45170049G>C g.44942910G>C - - SIX3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.806G>T r.(?) p.(Arg269Met) - - pathogenic g.45170049G>T g.44942910G>T - - SIX3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.806+1G>T r.spl? p.? - - pathogenic g.45170050G>T g.44942911G>T - - SIX3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.806+145A>G r.(=) p.(=) - - benign g.45170194A>G - SIX3(NM_005413.3):c.806+145A>G - SIX3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.807-7C>T r.(=) p.(=) - - likely benign g.45171700C>T g.44944561C>T SIX3(NM_005413.3):c.807-7C>T (p.(=)) - SIX3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.824T>C r.(?) p.(Ile275Thr) - - likely benign g.45171724T>C g.44944585T>C SIX3(NM_005413.3):c.824T>C (p.I275T) - SIX3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.831G>A r.(?) p.(Pro277=) - - likely benign g.45171731G>A g.44944592G>A SIX3(NM_005413.3):c.831G>A (p.P277=) - SIX3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.887C>G r.(?) p.(Ser296Trp) - - VUS g.45171787C>G g.44944648C>G SIX3(NM_005413.3):c.887C>G (p.(Ser296Trp)), SIX3(NM_005413.4):c.887C>G (p.S296W) - SIX3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
-/. 2 - c.942A>G r.(?) p.(Ala314=) - - benign g.45171842A>G g.44944703A>G SIX3(NM_005413.3):c.942A>G (p.A314=), SIX3(NM_005413.4):c.942A>G (p.A314=) - SIX3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/., ?/. 2 - c.947C>T r.(?) p.(Thr316Ile) - - likely benign, VUS g.45171847C>T g.44944708C>T SIX3(NM_005413.3):c.947C>T (p.T316I), SIX3(NM_005413.4):c.947C>T (p.T316I) - SIX3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
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