Full data view for gene SIX1

Information The variants shown are described using the NM_005982.3 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.? r.(?) p.(?) Unknown - likely pathogenic g.? g.? SIX1 arr[hg19] 14q22.2q23.2(54331256-63789238)x1 (including SIX1, OTX2) - SERPINA1_000009 no protein change given, heterozygous PubMed: Zanolli 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 75 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - - - - 1 LOVD
?/. - c.13C>G r.(?) p.(Pro5Ala) Unknown - VUS g.61115895G>C g.60649177G>C - - SIX1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.31C>T r.(?) p.(Gln11Ter) Maternal (confirmed) - likely pathogenic g.61115877G>A g.60649159G>A - - SIX1_000039 - PubMed: Calpena 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES craniosynost. Fam3PatF8566-1 (twin 1) PubMed: Calpena 2022 4-generation family, 6 affected (2F, 4M), affected heterozygous carrier mother M - - - - - - - 6 Johan den Dunnen
+?/. - c.31C>T r.(?) p.(Gln11Ter) Maternal (confirmed) - likely pathogenic g.61115877G>A g.60649159G>A - - SIX1_000039 - PubMed: Calpena 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES craniosynost. Fam3PatF8552-1 (twin 2) PubMed: Calpena 2022 twin brother M - - - - - - - 1 Johan den Dunnen
+?/. - c.40G>C r.(?) p.(Val14Leu) Unknown - likely pathogenic g.61115868C>G g.60649150C>G - - SIX1_000038 - PubMed: Calpena 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES craniosynost. Fam6Pat1140 PubMed: Calpena 2022 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/+ 1 c.50T>A r.(?) p.(Val17Glu) Parent #1 - pathogenic g.61115858A>T g.60649140A>T - - SIX1_000027 - MORL Deafness Variation Database, PubMed: Smith 1993, PubMed: Kochhar 2008, PubMed: Patrick 2009 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Smith 1993, PubMed: Kochhar 2008, PubMed: Patrick 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.58G>C r.(?) p.(Val20Leu) Unknown - likely benign g.61115850C>G g.60649132C>G - - SIX1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.64C>T r.(?) p.(Gln22Ter) Unknown - pathogenic g.61115844G>A g.60649126G>A SIX1(NM_005982.3):c.64C>T (p.Q22*) - SIX1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.64C>T r.(?) p.(Gln22Ter) Maternal (confirmed) - likely pathogenic g.61115844G>A g.60649126G>A - - SIX1_000002 - PubMed: Calpena 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES craniosynost. Fam4PatL112-1 PubMed: Calpena 2022 4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier mother M - - - - - - - 4 Johan den Dunnen
?/. - c.154G>T r.(?) p.(Ala52Ser) Unknown - VUS g.61115754C>A g.60649036C>A SIX1(NM_005982.3):c.154G>T (p.A52S) - SIX1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155C>T r.(?) p.(Ala52Val) Unknown - VUS g.61115753G>A g.60649035G>A SIX1(NM_005982.3):c.155C>T (p.A52V) - SIX1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162G>A r.(?) p.(Ala54=) Unknown - likely benign g.61115746C>T g.60649028C>T SIX1(NM_005982.3):c.162G>A (p.A54=) - SIX1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.180C>G r.(?) p.(Arg60=) Unknown - likely benign g.61115728G>C - SIX1(NM_005982.3):c.180C>G (p.R60=) - SIX1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.197T>G r.(?) p.(Leu66Arg) Unknown - VUS g.61115711A>C - - - SIX1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.208C>T r.(?) p.(Leu70=) Unknown - likely benign g.61115700G>A - - - SIX1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.218A>C r.(?) p.(His73Pro) Parent #1 - pathogenic g.61115690T>G g.60648972T>G - - SIX1_000026 - MORL Deafness Variation Database, PubMed: Kochhar 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Kochhar 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.273_274insC r.(?) p.(Tyr92Leufs*62) Unknown - pathogenic g.61115634_61115635insG g.60648916_60648917insG - - SIX1_000030 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel kidney disease BO5 PubMed: Heidet 2017 - - - France - - - - - 1 Johan den Dunnen
?/. - c.277G>A r.(?) p.(Val93Met) Unknown - VUS g.61115631C>T - SIX1(NM_005982.3):c.277G>A (p.V93M) - SIX1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.316G>A r.(?) p.(Val106Met) Unknown - likely pathogenic g.61115592C>T - - - SIX1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.317T>G r.(?) p.(Val106Gly) Parent #1 - pathogenic g.61115591A>C g.60648873A>C - - SIX1_000025 - MORL Deafness Variation Database, PubMed: Smith 1993, PubMed: Kochhar 2008, PubMed: Patrick 2009 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Smith 1993, PubMed: Kochhar 2008, PubMed: Patrick 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.328C>G r.(?) p.(Arg110Gly) Parent #1 - pathogenic g.61115580G>C g.60648862G>C - - SIX1_000023 - MORL Deafness Variation Database, PubMed: Iglesias 2014 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Iglesias 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1 c.328C>T r.(?) p.(Arg110Trp) Parent #1 - pathogenic g.61115580G>A g.60648862G>A - - SIX1_000024 - MORL Deafness Variation Database, PubMed: Smith 1993, PubMed: Ruf 2004, PubMed: Patrick 2009 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Smith 1993, PubMed: Ruf 2004, PubMed: Patrick 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.328C>T r.(?) p.(Arg110Trp) Unknown - likely pathogenic g.61115580G>A g.60648862G>A - - SIX1_000024 - PubMed: Calpena 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES craniosynost. Fam1Pat7081 PubMed: Calpena 2022 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.328C>T r.(?) p.(Arg110Trp) Unknown - pathogenic g.61115580G>A - - - SIX1_000024 - - - rs80356459 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.328C>T r.(?) p.(Arg110Trp) Unknown - pathogenic g.61115580G>A g.60648862G>A - - SIX1_000024 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/+ 1 c.329G>A r.(?) p.(Arg110Gln) Parent #1 - pathogenic g.61115579C>T g.60648861C>T - - SIX1_000022 - MORL Deafness Variation Database, PubMed: Kochhar 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Kochhar 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.334C>G r.(?) p.(Arg112Gly) Unknown - likely pathogenic g.61115574G>C g.60648856G>C - - SIX1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.334C>T r.(?) p.(Arg112Cys) Parent #1 - pathogenic g.61115574G>A g.60648856G>A - - SIX1_000021 - MORL Deafness Variation Database, PubMed: Smith 1993, PubMed: Kochhar 2008, PubMed: Patrick 2009 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Smith 1993, PubMed: Kochhar 2008, PubMed: Patrick 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.353C>T r.(?) p.(Pro118Leu) Unknown - likely pathogenic g.61115555G>A - - - SIX1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.364T>A r.(?) p.(Trp122Arg) Parent #1 - pathogenic g.61115544A>T g.60648826A>T - - SIX1_000020 - MORL Deafness Variation Database, PubMed: Smith 1993, PubMed: Sanggaard 2007 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Smith 1993, PubMed: Sanggaard 2007 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.366G>C r.(?) p.(Trp122Cys) Unknown - VUS g.61115542C>G - - - SIX1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.368A>G r.(?) p.(Asp123Gly) Unknown - likely pathogenic g.61115540T>C - - - SIX1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.373G>A r.(?) p.(Glu125Lys) Parent #1 - pathogenic g.61115535C>T g.60648817C>T - - SIX1_000019 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Mosrati 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Shearer 1993, PubMed: Mosrati 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.373G>T r.(?) p.(Glu125Ter) Maternal (confirmed) - likely pathogenic g.61115535C>A g.60648817C>A - - SIX1_000037 - PubMed: Calpena 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES craniosynost. Fam5Pat5692 PubMed: Calpena 2022 2-generation family, 1 affected, unaffected heterozygous carrier mother F - - Asia - - - - 1 Johan den Dunnen
+?/. - c.374A>T r.(?) p.(Glu125Val) Unknown - likely pathogenic g.61115534T>A g.60648816T>A - - SIX1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.386A>G r.(?) p.(Tyr129Cys) Unknown - pathogenic g.61115522T>C g.60648804T>C SIX1(NM_005982.3):c.386A>G (p.Y129C) - SIX1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.386A>G r.(?) p.(Tyr129Cys) Unknown - pathogenic g.61115522T>C g.60648804T>C SIX1(NM_005982.3):c.386A>G (p.Y129C) - SIX1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.386A>G r.(?) p.(Tyr129Cys) Parent #1 - pathogenic g.61115522T>C g.60648804T>C - - SIX1_000010 - MORL Deafness Variation Database, PubMed: Ruf 2003, PubMed: Smith 1993, PubMed: Ruf 2004, PubMed: Patrick 2009 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Ruf 2003, PubMed: Smith 1993, PubMed: Ruf 2004, PubMed: Patrick 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.386A>G r.(?) p.(Tyr129Cys) Paternal (confirmed) - pathogenic (dominant) g.61115522T>C g.60648804T>C - - SIX1_000010 - PubMed: Krug 2011 - - Germline - - - - - DNA SEQ - - ? 714/715 PubMed: Krug 2011 2-generation family, affected father/son M - France - - - - - 2 Johan den Dunnen
+?/. - c.397_399del r.(?) p.(Glu133del) Unknown - likely pathogenic g.61115511_61115513del g.60648793_60648795del - - SIX1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.397_399del r.(?) p.(Glu133del) Parent #1 - pathogenic g.61115511_61115513del g.60648793_60648795del - - SIX1_000014 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Salam 2000, PubMed: Ruf 2004, PubMed: Patrick 2009 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Salam 2000, PubMed: Ruf 2004, PubMed: Patrick 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.452C>T r.(?) p.(Pro151Leu) Paternal (confirmed) - likely pathogenic g.61115456G>A g.60648738G>A - - SIX1_000036 - PubMed: Calpena 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES craniosynost. Fam2Pat163567 PubMed: Calpena 2022 2-generation family, 1 affected, unaffected heterozygous carrier father M - - - - - - - 1 Johan den Dunnen
?/. - c.507C>T r.(?) p.(Ser169=) Unknown - VUS g.61115401G>A g.60648683G>A - - SIX1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.513G>A r.(?) p.(Trp171Ter) Paternal (confirmed) - likely pathogenic g.61115395C>T g.60648677C>T - - SIX1_000035 - PubMed: Calpena 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES craniosynost. Fam7Pat4531 PubMed: Calpena 2022 2-generation family, affected son/father M - - - - - - - 1 Johan den Dunnen
?/. - c.518A>C r.(?) p.(Lys173Thr) Unknown - VUS g.61115390T>G - SIX1(NM_005982.3):c.518A>C (p.K173T) - SIX1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.523C>T r.(?) p.(Arg175Trp) Unknown - likely pathogenic g.61115385G>A - - - SIX1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.533G>A r.(?) p.(Arg178Lys) Unknown - VUS g.61115375C>T - - - SIX1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1i c.560+1G>C r.spl? p.? Parent #1 - likely pathogenic g.61115347C>G g.60648629C>G - - SIX1_000018 - MORL Deafness Variation Database, PubMed: Smith 1993 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Smith 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. 1i c.560+3A>T r.spl? p.? Parent #1 - likely pathogenic g.61115345T>A g.60648627T>A - - SIX1_000017 - PubMed: Krug 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? 1226 PubMed: Krug 2011 - - - France - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.578A>T r.(?) p.(Asn193Ile) Unknown - likely benign g.61113278T>A g.60646560T>A SIX1(NM_005982.3):c.578A>T (p.N193I, p.(Asn193Ile)), SIX1(NM_005982.4):c.578A>T (p.N193I) - SIX1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.578A>T r.(?) p.(Asn193Ile) Unknown - likely benign g.61113278T>A g.60646560T>A SIX1(NM_005982.3):c.578A>T (p.N193I, p.(Asn193Ile)), SIX1(NM_005982.4):c.578A>T (p.N193I) - SIX1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.578A>T r.(?) p.(Asn193Ile) Unknown - likely benign g.61113278T>A - SIX1(NM_005982.3):c.578A>T (p.N193I, p.(Asn193Ile)), SIX1(NM_005982.4):c.578A>T (p.N193I) - SIX1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.578A>T r.(?) p.(Asn193Ile) Unknown - likely benign g.61113278T>A - SIX1(NM_005982.3):c.578A>T (p.N193I, p.(Asn193Ile)), SIX1(NM_005982.4):c.578A>T (p.N193I) - SIX1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.615T>G r.(?) p.(Pro205=) Unknown - likely benign g.61113241A>C - SIX1(NM_005982.4):c.615T>G (p.P205=) - SIX1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.632C>T r.(?) p.(Pro211Leu) Unknown - likely benign g.61113224G>A - SIX1(NM_005982.4):c.632C>T (p.(Pro211Leu)) - SIX1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/+ 2 c.679G>T r.(?) p.(Asp227Tyr) Maternal (confirmed) - likely benign g.61113177C>A g.60646459C>A - - SIX1_000016 - PubMed: Weber 2006 - - Germline - - - - - DNA ? - - ? GDA3/4 PubMed: Weber 2006 2-generation family, 2 affected sibs, unaffected heterozygous carrier mother - - - - - - - - 2 Global Variome, with Curator vacancy
?/. 2 c.746C>T r.(?) p.(Pro249Leu) Unknown - likely benign g.61113110G>A g.60646392G>A - - SIX1_000015 - PubMed: Krug 2011 - - Germline/De novo (untested) - - - - - DNA ? - - ? 162 PubMed: Krug 2011 - - - France - - - - - 1 Global Variome, with Curator vacancy
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