All transcript variants in gene MKS1

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

78 entries on 1 page. Showing entries 1 - 78.
Legend  

Effect     

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     
-?/. - c.-267T>A likely benign r.(=) p.(=) g.56296858A>T - MKS1:c.15T>A (V5=) - MKS1_000060 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.-18C>G benign r.(=) p.(=) g.56296609G>C - MKS1:c.-18C>G - MKS1_000059 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.10A>T VUS r.(?) p.(Thr4Ser) g.56296582T>A - MKS1:NM_017777.3:c.10A>T - MKS1_000058 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.12C>T benign r.(=) p.(=) g.56296580G>A - MKS1:c.12C>T (=) - MKS1_000057 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.12C>T likely benign r.(=) p.(=) g.56296580G>A - MKS1:c.12C>T (=) - MKS1_000057 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.12C>T likely benign r.(=) p.(=) g.56296580G>A - MKS1:c.12C>T (=) - MKS1_000057 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 2 c.51_55dup - r.(51_55dup) p.(Asp19Alafs*36) g.56296537_56296541dup g.58219176_58219180dup 50insCCGGG: P17fsX163 - MKS1_000005 1 German MKS1 family (com-het) PubMed: Kyttälä et al. 2006 - - SUMMARY record yes - - 0 - Anne Polvi
+/. 1 c.55G>T - r.(?) p.(Asp19Tyr) g.56296537C>A g.58219176C>A - - MKS1_000027 - - - - Germline - - - 0 - Hester Y. Kroes
+?/+? 2 c.80+2T>C - r.spl? p.? g.56296510A>G g.58219149A>G IVS1+2T>C: affects splicing - MKS1_000006 affects splicing;1 German MKS1 family (com-het) PubMed: Kyttälä et al. 2006 - - SUMMARY record yes - - - - Anne Polvi
-/. - c.118C>T benign r.(?) p.(His40Tyr) g.56296053G>A - MKS1:c.118C>T (H40Y) - MKS1_000056 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 2 c.157dup - r.(?) p.(Asp53Glyfs*6) g.56296014dup g.58218653dup - - MKS1_000026 - - - - Germline - - - 0 - Hester Y. Kroes
?/. - c.167C>G VUS r.(?) p.(Thr56Ser) g.56296004G>C - MKS1:NM_017777.3:c.167C>G (Thr56Ser) - MKS1_000064 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/? 2 c.184A>G - r.(?) p.(Thr62Ala) g.56295987T>C g.58218626T>C - - MKS1_000003 - - - - Germline yes - - - - Leen Abu Safieh
+/+ 3 c.184_190del - r.[184_190del, spl?] p.[Thr62Valfs*14, spl?] g.56295981_56295987del g.58218620_58218626del c.184_190del7: p.T61VfsX14 - MKS1_000013 deletion last nucleotides exon 3; 1 French MKS1 family (com-het) PubMed: Khaddour et al. 2007 - - SUMMARY record yes - - - - Anne Polvi
-?/. - c.213C>G likely benign r.(?) p.(Asp71Glu) g.56294075G>C - MKS1:c.213C>G (D71E) - MKS1_000055 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.213C>G benign r.(?) p.(Asp71Glu) g.56294075G>C - MKS1:c.213C>G (D71E) - MKS1_000055 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.213C>G likely benign r.(?) p.(Asp71Glu) g.56294075G>C - MKS1:c.213C>G (D71E) - MKS1_000055 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/+? 4i c.262-179_262-37del - r.262_417del p.Phe88_Glu139del g.56293641_56293783del g.58216280_58216422del c.262-37_179del: skipping of exon 4: protein lacking aa 88-139 - MKS1_000019 skipping of exon 4: protein lacking aa 88-139; 1 Turkish MKS1 family (hom) PubMed: Frank et al. 2007 - - SUMMARY record yes - - - - Anne Polvi
+/. 3i c.262-179_262-37del - r.? p.? g.56293641_56293783del g.58216280_58216422del - - MKS1_000019 - - - - Germline - - - 0 - Hester Y. Kroes
+/. 3i c.262-2A>G - r.spl? p.? g.56293606T>C g.58216245T>C - - MKS1_000031 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - 0 - Christopher Watson
-?/. - c.368G>A likely benign r.(?) p.(Arg123Gln) g.56293498C>T - MKS1:c.368G>A (R123Q) - MKS1_000054 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 4 c.381delC - r.(?) p.(Tyr128Thrfs*17) g.56293485delG g.58216124delG - - MKS1_000025 - - - - De novo - - - 0 - Hester Y. Kroes
+/+ 5 c.392_393del - r.(392_393del) p.(Ser131*) g.56293473_56293474delAG g.58216112_58216113del 392_393delCT (Ser131X) - MKS1_000020 1 Finnish MKS1 family (com-het) PubMed: Tallila et al. 2009 - - SUMMARY record yes - - 0 - Anne Polvi
+/+ 5 c.417G>A - r.262_417del p.Phe88_Glu139del g.56293449C>T g.58216088C>T 417G>A: 262del156 (exon 4 skipping): F88_E139del - MKS1_000007 RNA exon 4 skipping;1 Dutch, 1 French and 2 German MKS1 families (all com-het) PubMed: Consugar_2007, PubMed: Khaddour et al. 2007, PubMed: Frank et al. 2007 - - SUMMARY record yes - - - - Anne Polvi
+/. 4 c.417G>A - r.262_417del p.Phe88_Glu139del g.56293449C>T g.58216088C>T - - MKS1_000024 - - - - Germline - - - 0 - Hester Y. Kroes
+?/. - c.417G>A likely pathogenic r.(=) p.(=) g.56293449C>T - MKS1:c.417G>A (=) - MKS1_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.417G>A pathogenic r.(=) p.(=) g.56293449C>T - MKS1:c.417G>A (=) - MKS1_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.417G>A likely pathogenic r.(=) p.(=) g.56293449C>T - MKS1:NM_017777.3:c.417G>A (r.spl?/Glu139Glu) - MKS1_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 6i c.424C>T - r.424c>u) p.(Gln142*) g.56292193G>A g.58214832G>A c.424C>T: p.Q142X - MKS1_000014 1 French MKS1 family (com-het) PubMed: Khaddour et al. 2007 - - SUMMARY record yes - - - - Anne Polvi
+/+ 6i c.472C>T - r.472c>u) p.(Arg158*) g.56292145G>A g.58214784G>A c.472C>T: p.R158X - MKS1_000015 1 French MKS1 family (com-het) PubMed: Khaddour et al. 2007 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 6i c.496C>T - r.(496c>u) p.(Arg166Trp) g.56292121G>A g.58214760G>A p.Arg166Trp - MKS1_000021 1 Finnish MKS1 family (com-het) PubMed: Tallila et al. 2009 - rs201845154 SUMMARY record yes - - - - Anne Polvi
-?/. - c.497G>A likely benign r.(?) p.(Arg166Gln) g.56292120C>T - MKS1:NM_001165927.1:c.467G>A, NM_017777.3:c.497G>A - MKS1_000053 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/+? 6i c.515+1G>A - r.spl? p.? g.56292101C>T g.58214740C>T c.515+1G>A: destructs donor splice site - MKS1_000017 destroys donor splice site; 1 Kuwaiti MKS1 family (hom) PubMed: Frank et al. 2007 - - SUMMARY record yes - - - - Anne Polvi
?/. - c.515+12C>T VUS r.(=) p.(=) g.56292090G>A - MKS1:c.515+12C>T - MKS1_000052 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.516-10T>C likely benign r.(=) p.(=) g.56291758A>G - MKS1:c.516-10T>C - MKS1_000051 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 8 c.829G>T - r.(?) p.(Glu277*) g.56290372C>A g.58213011C>A - - MKS1_000002 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma
?/. - c.857A>G VUS r.(?) p.(Asp286Gly) g.56290344T>C - MKS1:NM_017777.3:c.857A>G (Asp286Gly) - MKS1_000063 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.858+9A>G benign r.(=) p.(=) g.56290334T>C - MKS1:c.858+9A>G - MKS1_000050 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.858+9A>G benign r.(=) p.(=) g.56290334T>C - MKS1:c.858+9A>G - MKS1_000050 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.858+9A>G benign r.(=) p.(=) g.56290334T>C - MKS1:NM_017777.3:c.858+9A>G (?) - MKS1_000050 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.915+19_915+21del benign r.(=) p.(=) g.56289718_56289720del - MKS1:c.915+19_915+21delTGC - MKS1_000048 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.916-119G>A benign r.(=) p.(=) g.56288502C>T - MKS1:c.916-119G>A - MKS1_000047 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 10 c.950G>A - r.(?) p.(Gly317Glu) g.56288349C>T g.58210988C>T - - MKS1_000023 - - - - Unknown - - - 0 - Hester Y. Kroes
+?/+? 11 c.958G>A - r.[958g>a, spl?] p.[Val320Ile, ?] g.56288341C>T g.58210980C>T c.958G>A: p.V320I, splice variant - MKS1_000016 variant last nucleotide exon 11, affects splicing; 1 French MKS1 family (com-het) PubMed: Khaddour et al. 2007 - - SUMMARY record yes 0/105 CON - - - Anne Polvi
?/. - c.1010A>G VUS r.(?) p.(Glu337Gly) g.56288034T>C - MKS1:NM_001165927.1:c.980A>G, NM_017777.3:c.1010A>G - MKS1_000046 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/+? 12i c.1024+1G>A - r.(959_1024del) p.(Val320_His342delinsAsp) g.56288019C>T g.58210658C>T IVS11+1G>A: 959del66: V320_H342delinsD - MKS1_000008 1 Caucasian-African-American MKS1 family (com-het) PubMed: Consugar_2007 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 13 c.1048C>G - r.(1048c>g) p.(Gln350Glu) g.56285921G>C g.58208560G>C c.1048C>G: p.Q350X - MKS1_000009 1 Palestinian MKS1 family (hom) PubMed: Khaddour et al. 2007 - - SUMMARY record yes - - - - Anne Polvi
+/+ 13 c.1048C>T - r.(1048c>u) p.(Gln350*) g.56285921G>A g.58208560G>A c.1048C>T: p.Q350X - MKS1_000010 1 Palestinian MKS1 family (hom) PubMed: Khaddour et al. 2007 - - SUMMARY record yes - - - - Anne Polvi
+/. 13 c.1115_1117del - r.(?) p.(Ser372del) g.56285514_56285516del g.58208153_58208155del - - MKS1_000022 - - - - Germline - - - 0 - Hester Y. Kroes
+/. 13 c.1115_1117del - r.(?) p.(Ser372del) g.56285514_56285516del g.58208153_58208155del - - MKS1_000022 - - - - Germline - - - 0 - Hester Y. Kroes
+/. 13 c.1115_1117del - r.(?) p.(Ser372del) g.56285514_56285516del g.58208153_58208155del - - MKS1_000022 - - - - Unknown - - - 0 - Hester Y. Kroes
+?/. 13 c.1115_1117del - r.(?) p.(Ser372del) g.56285514_56285516del g.58208153_58208155del 1115_1117delCCT - MKS1_000022 - - - - Germline yes - - 0 - Irfan Ullah
-/. - c.1128G>A benign r.(=) p.(=) g.56285503C>T - MKS1:c.1128G>A (=) - MKS1_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1138T>G likely benign r.(?) p.(Phe380Val) g.56285493A>C - MKS1:NM_000502.4:c.*3408A>C, NM_001165927.1:c.1108T>G, … - MKS1_000044 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1148A>G likely benign r.(?) p.(His383Arg) g.56285483T>C - MKS1:c.1148A>G (H383R) - MKS1_000043 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1196G>C VUS r.(?) p.(Cys399Ser) g.56285332C>G - MKS1:NM_017777.3:c.1196G>C (Cys399Ser) - MKS1_000062 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 14 c.1208C>T - r.(?) p.(Ser403Leu) g.56285320G>A g.58207959G>A - - MKS1_000028 - - - - Germline - - - 0 - Hester Y. Kroes
-/. - c.1273+11G>A benign r.(=) p.(=) g.56285244C>T - MKS1:c.1273+11G>A - MKS1_000042 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1273+11G>A benign r.(=) p.(=) g.56285244C>T - MKS1:c.1273+11G>A - MKS1_000042 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1273+39C>T benign r.(=) p.(=) g.56285216G>A - MKS1:c.1273+39C>T - MKS1_000041 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1349T>C VUS r.(?) p.(Ile450Thr) g.56284504A>G - MKS1:c.1349T>C (I450T) - MKS1_000040 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.1407+1G>A pathogenic r.spl? p.? g.56284445C>T - MKS1:c.1407+1G>A - MKS1_000039 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/+? 16i c.1407+2delT - r.spl? p.? g.56284444delA g.58207083delA c.1407+2delT: destructs donor splice site - MKS1_000018 destroys donor splice site; 1 Turkish MKS1 family (hom) PubMed: Frank et al. 2007 - - SUMMARY record yes - - - - Anne Polvi
+/+ 15i c.1408-35_1408-7del - r.1408_1490del p.Glu471Leufs*92 g.56283915_56283943del g.58206554_58206582del 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 PubMed: Kyttälä et al. 2006, PubMed: Consugar et al. 2007, PubMed: Frank et al. 2007, PubMed: Khaddour et al. 2007, PubMed: Auber et al. 2007 - - SUMMARY record yes - - 0 - Anne Polvi
+?/. - c.1408-34_1408-6del likely pathogenic r.(=) p.(=) g.56283914_56283942del - MKS1:NM_017777.3:c.1408-34_1408-6del - MKS1_000061 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.1415G>A benign r.(?) p.(Arg472His) g.56283901C>T - MKS1:c.1415G>A (R472H) - MKS1_000038 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1435C>T benign r.(?) p.(Arg479Cys) g.56283881G>A - MKS1:c.1435C>T (R479C) - MKS1_000037 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1436G>A benign r.(?) p.(Arg479His) g.56283880C>T - MKS1:c.1436G>A (R479H) - MKS1_000036 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1436G>A benign r.(?) p.(Arg479His) g.56283880C>T - MKS1:c.1436G>A (R479H) - MKS1_000036 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 16 c.1447_1448insCAGG - r.(?) p.(Thr485Argfs*107) g.56283868_56283869insCCTG g.58206507_58206508insCCTG - - MKS1_000001 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma
+/+ 17 c.1450_1453dup - r.(1450_1453dup) p.(Thr485Argfs*107) g.56283863_56283866dup g.58206502_58206505dup c.1448_1451dupCAGG: p.G484GfsX108; 1448_1451dupCAGG: T485fsX591 - MKS1_000011 1 Pakistani MKS1 family (hom) and 1 MKS1 patient with nondescribed ethnicity (hom) PubMed: Khaddour et al. 2007, PubMed: Dave et al. 2007 - - SUMMARY record yes - - 0 - Anne Polvi
+?/+? 17 c.1490G>A - r.[1490g>a, spl?] p.[Arg497Lys, ?] g.56283826C>T g.58206465C>T c.1490G>A: p.R497K, splice variant - MKS1_000012 variant last nucleotide exon 17, affects splicing; 1 French MKS1 family (com-het) PubMed: Khaddour et al. 2007 - - SUMMARY record yes 0/105 CON - - - Anne Polvi
-/. - c.1498A>G benign r.(?) p.(Met500Val) g.56283734T>C - MKS1:c.1498A>G (M500V) - MKS1_000035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1505C>G VUS r.(?) p.(Ser502Trp) g.56283727G>C - MKS1:NM_000502.4:c.*1642G>C, NM_001165927.1:c.1475C>G, … - MKS1_000034 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. 17 c.1528dup - r.(?) p.(Arg510Profs*81) g.56283704dup g.58206343dup - - MKS1_000029 - - - - Germline - - - 0 - Hester Y. Kroes
+/. 17i c.1589-2A>T - r.spl p.? g.56283533T>A g.58206172T>A - - MKS1_000030 - - - - Germline - - - 0 - Hester Y. Kroes
-/. - c.1671G>C benign r.(=) p.(=) g.56283449C>G - MKS1:c.1671G>C (=) - MKS1_000033 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.*351del benign r.(=) p.(=) g.56283089del - MKS1:c.*351delG - MKS1_000032 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
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