Full data view for gene MKS1

Information The variants shown are described using the NM_017777.3 transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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+/. 15i c.1408-34_1408-6del r.1408_1490del p.Glu471Leufs*92 Unknown - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del Finmajor: IVS15-7_35 del: Exon 16 skipping: P470fsX562; c.1408-35_1408-7del29: p.G470GfsX93 - MKS1_000004 Finmajor, RNA exon 16 skipping; 70% of the Finnish MKS patients (most hom). Also common in non-Finnish MKS patients: observed in Afrikan-American, American, Dutch, English, French, German, Italian, Irish - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1408-34_1408-6del r.(=) p.(=) Unknown - pathogenic g.56283916_56283944del g.58206555_58206583del MKS1(NM_001165927.1):c.1378-34_1378-6del (p.(=)), MKS1(NM_017777.3):c.1408-34_1408-6delAGAAACCTGAGGCTGTCCCAATGGCATGC, MKS1(NM_017777.4):c.1408-34_1... - MKS1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1408-34_1408-6del r.(=) p.(=) Unknown - pathogenic g.56283916_56283944del g.58206555_58206583del MKS1(NM_001165927.1):c.1378-34_1378-6del (p.(=)), MKS1(NM_017777.3):c.1408-34_1408-6delAGAAACCTGAGGCTGTCCCAATGGCATGC, MKS1(NM_017777.4):c.1408-34_1... - MKS1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1408-34_1408-6del r.(=) p.(=) Unknown - pathogenic g.56283916_56283944del g.58206555_58206583del MKS1(NM_001165927.1):c.1378-34_1378-6del (p.(=)), MKS1(NM_017777.3):c.1408-34_1408-6delAGAAACCTGAGGCTGTCCCAATGGCATGC, MKS1(NM_017777.4):c.1408-34_1... - MKS1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1408-34_1408-6del r.? p.(?) Unknown - likely pathogenic g.56283916_56283944del g.58206555_58206583del c.1408-36_1408-6del - MKS1_000004 - PubMed: Brooks 2018 - - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 510 PubMed: Brooks 2018 family 60 M - United States - - - - - 1 LOVD
+/. 15i c.1408-34_1408-6del r.? p.? Unknown - pathogenic g.56283916_56283944del - c.1408-36_1408-6del - MKS1_000004 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 510 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
+?/. - c.1408-34_1408-6del r.(=) p.(=) Unknown - likely pathogenic g.56283916_56283944del - MKS1(NM_001165927.1):c.1378-34_1378-6del (p.(=)), MKS1(NM_017777.3):c.1408-34_1408-6delAGAAACCTGAGGCTGTCCCAATGGCATGC, MKS1(NM_017777.4):c.1408-34_1... - MKS1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1408-34_1408-6del r.1408_1490del p.Glu471Leufs*92 Parent #1 - pathogenic g.56283916_56283944del g.58206555_58206583del MKS1 c.1408-7_35del - MKS1_000004 heterozygous, no second allele found PubMed: Auber 2007 - - Germline yes - - - - DNA SEQ frozen fetal tissue - MKS 1 PubMed: Auber 2007 - F - Germany - - - - - 1 LOVD
+/. - c.1408-34_1408-6del r.1408_1490del p.Glu471Leufs*92 Parent #1 - pathogenic g.56283916_56283944del g.58206555_58206583del MKS1 c.1408-7_35del - MKS1_000004 heterozygous, no second allele found PubMed: Auber 2007 - - Germline yes - - - - DNA SEQ frozen fetal tissue - MKS 2 PubMed: Auber 2007 - M - Germany - - - - - 1 LOVD
+/. - c.1408-34_1408-6del r.1408_1490del p.Glu471Leufs*92 Both (homozygous) - pathogenic g.56283916_56283944del g.58206555_58206583del MKS1 c.1408-7_35del - MKS1_000004 homozygous PubMed: Auber 2007 - - Germline yes - - - - DNA SEQ frozen fetal tissue - MKS 3 PubMed: Auber 2007 - F - Germany - - - - - 1 LOVD
+/. - c.1408-34_1408-6del r.1408_1490del p.Glu471Leufs*92 Both (homozygous) - pathogenic g.56283916_56283944del g.58206555_58206583del MKS1 c.1408-7_35del - MKS1_000004 homozygous PubMed: Auber 2007 - - Germline yes - - - - DNA SEQ paraffin-embedded fetal tissue - MKS 4 PubMed: Auber 2007 - M - Germany - - - - - 1 LOVD
+/. - c.1408-34_1408-6del r.1408_1490del p.Glu471Leufs*92 Both (homozygous) - pathogenic g.56283916_56283944del g.58206555_58206583del MKS1 c.1408-7_35del - MKS1_000004 homozygous PubMed: Auber 2007 - - Germline yes - - - - DNA SEQ paraffin-embedded fetal tissue - MKS 5 PubMed: Auber 2007 - M - Germany - - - - - 1 LOVD
+/. - c.1408-34_1408-6del r.1408_1490del p.Glu471Leufs*92 Both (homozygous) - pathogenic g.56283916_56283944del g.58206555_58206583del MKS1 c.1408-7_35del - MKS1_000004 homozygous PubMed: Auber 2007 - - Germline yes - - - - DNA SEQ paraffin-embedded fetal tissue - MKS 6 PubMed: Auber 2007 - M - Germany - - - - - 1 LOVD
+/. - c.1408-34_1408-6del r.1408_1490del p.Glu471Leufs*92 Both (homozygous) - pathogenic g.56283916_56283944del g.58206555_58206583del MKS1 c.1408-7_35del - MKS1_000004 homozygous PubMed: Auber 2007 - - Germline yes - - - - DNA SEQ paraffin-embedded fetal tissue - MKS 7 PubMed: Auber 2007 - M - Germany - - - - - 1 LOVD
+/. - c.1408-34_1408-6del r.1408_1490del p.Glu471Leufs*92 Both (homozygous) - pathogenic g.56283916_56283944del g.58206555_58206583del MKS1 c.1408-7_35del - MKS1_000004 homozygous PubMed: Auber 2007 - - Germline yes - - - - DNA SEQ paraffin-embedded fetal tissue - MKS 8 PubMed: Auber 2007 - M - Germany - - - - - 1 LOVD
+/. - c.1408-34_1408-6del r.(1408_1490del) p.Glu471Leufs*92)( Maternal (confirmed) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del 1408-7_35del - MKS1_000004 - PubMed: Frank 2007 - - Germline - - - - - DNA SEQ - - MKS Fam943 PubMed: Frank 2007 family 943 - no Germany - - - - - 1 LOVD
+/. - c.1408-34_1408-6del r.(=) p.(=) Unknown - pathogenic g.56283916_56283944del - MKS1(NM_001165927.1):c.1378-34_1378-6del (p.(=)), MKS1(NM_017777.3):c.1408-34_1408-6delAGAAACCTGAGGCTGTCCCAATGGCATGC, MKS1(NM_017777.4):c.1408-34_1... - MKS1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del 1408-35_1408-7del (G470GfsX93) - MKS1_000004 - PubMed: Khaddour 2007 - - Germline - - - - - DNA DHPLC, SEQ - - MKS Fam7Pat106 PubMed: Khaddour 2007 affected fetus - - England - <0d - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Paternal (confirmed) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del 1408-35_1408-7del - MKS1_000004 - PubMed: Khaddour 2007 - - Germline - - - - - DNA DHPLC, SEQ - - MKS Fam2Pat362 PubMed: Khaddour 2007 affected fetus - - France - <0d - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Paternal (confirmed) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del 1408-35_1408-7del - MKS1_000004 - PubMed: Khaddour 2007 - - Germline - - - - - DNA DHPLC, SEQ - - MKS Fam6Pat562 PubMed: Khaddour 2007 affected fetus - - France - <0d - - - 3 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Maternal (confirmed) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 - PubMed: Consugar 2007 - - Germline - - - - - DNA SEQ - - MKS M340 PubMed: Consugar 2007 family, 2 affected fetuses - - United States Germany <0d - - - 2 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 - PubMed: Consugar 2007 - - Germline - - - - - DNA SEQ - - MKS M380 PubMed: Consugar 2007 family, 1 affected fetus - - United States Germany;Ireland;United Kingdom (Great Britain);America-N <0d - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 - PubMed: Consugar 2007 - - Germline - - - - - DNA SEQ - - MKS M383 PubMed: Consugar 2007 family, 1 affected fetus - - United States Germany;Ireland;United Kingdom (Great Britain);Italy <0d - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Paternal (confirmed) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 - PubMed: Consugar 2007 - - Germline - - - - - DNA SEQ - - MKS M338 PubMed: Consugar 2007 family, 1 affected fetus - - United States white;African-American <0d - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Paternal (confirmed) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 - PubMed: Consugar 2007 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MKS 55875 PubMed: Consugar 2007 family, 1 affected fetus - - United States Netherlands <0d - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Parent #1 - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35 - MKS1_000004 no variant 2nd chromosome PubMed: Auber 2007 - - Germline - - - - - DNA SEQ deep-frozen tissue - MKS Case1 PubMed: Auber 2007 affected fetus F - Germany - <0d - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Parent #1 - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35 - MKS1_000004 no variant 2nd chromosome PubMed: Auber 2007 - - Germline - - - - - DNA SEQ deep-frozen tissue - MKS Case2 PubMed: Auber 2007 affected fetus M - Germany - <0d - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35 - MKS1_000004 - PubMed: Auber 2007 - - Germline - - - - - DNA SEQ deep-frozen tissue - MKS Case3 PubMed: Auber 2007 affected fetus F - Germany - <0d - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35 - MKS1_000004 - PubMed: Auber 2007 - - Germline - - - - - DNA SEQ paraffin-embedded tissue - MKS Case4 PubMed: Auber 2007 affected fetus M - Germany - <0d - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35 - MKS1_000004 - PubMed: Auber 2007 - - Germline - - - - - DNA SEQ paraffin-embedded tissue - MKS Case5 PubMed: Auber 2007 affected fetus M - Germany - <0d - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35 - MKS1_000004 - PubMed: Auber 2007 - - Germline - - - - - DNA SEQ paraffin-embedded tissue - MKS Case6 PubMed: Auber 2007 affected fetus M - Germany - <0d - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35 - MKS1_000004 - PubMed: Auber 2007 - - Germline - - - - - DNA SEQ paraffin-embedded tissue - MKS Case7 PubMed: Auber 2007 affected fetus M - Germany - <0d - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35 - MKS1_000004 - PubMed: Auber 2007 - - Germline - - - - - DNA SEQ paraffin-embedded tissue - MKS Case8 PubMed: Auber 2007 affected fetus M - Germany - <0d - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.1408_1490del p.Glu471Leufs*92 Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 - PubMed: Kyttala 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MKS Fam1 PubMed: Kyttala 2006 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 - PubMed: Kyttala 2006 - - Germline - - - - - DNA SEQ - - MKS Fam2 PubMed: Kyttala 2006 - - - Sweden;Portugal;Ireland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 - PubMed: Kyttala 2006 - - Germline - - - - - DNA SEQ - - MKS Fam3 PubMed: Kyttala 2006 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.(1408_1490del) p.(Glu471Leufs*92) Both (homozygous) - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del IVS15-7_35del - MKS1_000004 common founder haplotype; MKS1-Finmajor variant PubMed: Kyttala 2006 - - Germline - - - - - DNA PCR, SEQ - - MKS - PubMed: Kyttala 2006 family - - Finland - - - - - 1 Johan den Dunnen
+/. - c.1408-34_1408-6del r.spl p.? Unknown - pathogenic (recessive) g.56283916_56283944del g.58206555_58206583del - - MKS1_000004 combination of variants not reported PubMed: Serpieri 2023 - rs386834043 Germline - - - - - DNA SEQ-NG - - JBTS - PubMed: Serpieri 2023 - - - - - - - - - 1 Valentina Serpieri
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