Full data view for gene SIX6

Information The variants shown are described using the NM_007374.2 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.70A>G r.(?) p.(Ser24Gly) Unknown - VUS g.60976186A>G g.60509468A>G - - SIX6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.104G>A r.(?) p.(Trp35Ter) Unknown - pathogenic g.60976220G>A g.60509502G>A - - SIX6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.174C>T r.(?) p.(Ala58=) Unknown - benign g.60976290C>T g.60509572C>T SIX6(NM_007374.3):c.174C>T (p.A58=) - SIX6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.222G>A r.(?) p.(Leu74=) Unknown - VUS g.60976338G>A g.60509620G>A SIX6(NM_007374.3):c.222G>A (p.L74=) - SIX6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.294G>A r.(?) p.(Glu98=) Unknown - likely benign g.60976410G>A g.60509692G>A SIX6(NM_007374.3):c.294G>A (p.E98=) - SIX6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.348G>A r.(?) p.(=) Unknown - likely benign g.60976464G>A - SIX6(NM_007374.3):c.348G>A (p.R116=) - SIX6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.385G>A r.(?) p.(Glu129Lys) Unknown - VUS g.60976501G>A g.60509783G>A SIX6(NM_007374.2):c.385G>A (p.E129K) - SIX6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.385G>A r.(?) p.(Glu129Lys) Parent #1 - VUS g.60976501G>A g.60509783G>A - - SIX6_000008 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146737847 Germline - 12/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 12 Mohammed Faruq
?/. - c.398A>C r.(?) p.(His133Pro) Unknown - VUS g.60976514A>C g.60509796A>C SIX6(NM_007374.2):c.398A>C (p.H133P) - SIX6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.532_536del r.(?) p.(Asn178Profs*142) Unknown - pathogenic g.60976648_60976652del - - - SIX6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.532_536del r.(?) p.(Asn178Profs*142) Both (homozygous) - pathogenic (recessive) g.60976648_60976652del g.60509930_60509934del - - SIX6_000014 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F51‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
?/. - c.534C>A r.(?) p.(Asn178Lys) Unknown - VUS g.60976650C>A g.60509932C>A SIX6(NM_007374.3):c.534C>A (p.N178K) - SIX6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.547G>C r.(?) p.(Asp183His) Both (homozygous) ACMG likely pathogenic (recessive) g.60976663G>C g.60509945G>C - - SIX6_000017 ACMG PM2, PM5, PP3, PP5 PubMed: Basharat 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - smMIPs, WGS ? FamCPatIV1 PubMed: Basharat 2024 4-generation family, 3 affected (2F, M) M yes Pakistan - - - - - 3 Rabia Basharat
+?/. - c.547G>C r.(?) p.(Asp183His) Both (homozygous) ACMG likely pathogenic (recessive) g.60976663G>C g.60509945G>C - - SIX6_000017 ACMG PM2, PM5, PP3, PP5 PubMed: Basharat 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - smMIPs, WGS ? FamCPatIV3 PubMed: Basharat 2024 sister F yes Pakistan - - - - - 1 Rabia Basharat
+?/. - c.547G>C r.(?) p.(Asp183His) Both (homozygous) ACMG likely pathogenic (recessive) g.60976663G>C g.60509945G>C - - SIX6_000017 ACMG PM2, PM5, PP3, PP5 PubMed: Basharat 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - smMIPs, WGS ? FamCPatIV5 PubMed: Basharat 2024 sister F yes Pakistan - - - - - 1 Rabia Basharat
+?/. - c.550_551dup r.(?) p.(Ala185GlufsTer77) Unknown - likely pathogenic g.60976666_60976667dup g.60509948_60509949dup SIX6(NM_007374.3):c.550_551dupCG (p.A185Efs*77) - SIX6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.572+13A>G r.(=) p.(=) Unknown - likely benign g.60976701A>G g.60509983A>G SIX6(NM_007374.3):c.572+13A>G - SIX6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.614T>G r.(?) p.(Leu205Arg) Unknown - benign g.60977843T>G g.60511125T>G SIX6(NM_007374.2):c.614T>G (p.L205R), SIX6(NM_007374.3):c.614T>G (p.L205R) - SIX6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.614T>G r.(?) p.(Leu205Arg) Unknown - likely benign g.60977843T>G g.60511125T>G SIX6(NM_007374.2):c.614T>G (p.L205R), SIX6(NM_007374.3):c.614T>G (p.L205R) - SIX6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.635C>A r.(?) p.(Thr212Lys) Unknown - likely benign g.60977864C>A g.60511146C>A SIX6(NM_007374.2):c.635C>A (p.T212K) - SIX6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.637C>T r.(?) p.(Pro213Ser) Unknown - likely benign g.60977866C>T g.60511148C>T SIX6(NM_007374.2):c.637C>T (p.P213S) - SIX6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.654C>T r.(?) p.(Val218=) Unknown - likely benign g.60977883C>T - SIX6(NM_007374.3):c.654C>T (p.V218=) - SIX6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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