Unique variants in the TMEM67 gene

Information The variants shown are described using the NM_153704.5 transcript reference sequence.

121 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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.25G>A r.(?) p.(Val9Met) - likely benign g.94767167G>A g.93754939G>A TMEM67(NM_153704.5):c.25G>A (p.V9M) - TMEM67_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.29C>T r.(?) p.(Ala10Val) - VUS g.94767171C>T g.93754943C>T - - TMEM67_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.37G>A r.(?) p.(Val13Ile) - VUS g.94767179G>A g.93754951G>A TMEM67(NM_153704.5):c.37G>A (p.V13I) - TMEM67_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 1 c.41G>A r.(?) p.(Trp14*) - likely pathogenic g.94767183G>A g.93754955G>A - - TMEM67_000046 - - - - Unknown ? - - - - Sanne Savelberg
-?/. 1 - c.66G>A r.(?) p.(Val22=) - likely benign g.94767208G>A g.93754980G>A TMEM67(NM_153704.5):c.66G>A (p.V22=) - TMEM67_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.114C>T r.(?) p.(Thr38=) - likely benign g.94767256C>T g.93755028C>T TMEM67(NM_153704.5):c.114C>T (p.T38=) - TMEM67_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.120T>C r.(?) p.(Ser40=) - benign, likely benign g.94767262T>C g.93755034T>C TMEM67(NM_153704.5):c.120T>C (p.S40=) - TMEM67_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
?/. 1 - c.124C>G r.(?) p.(Pro42Ala) - VUS g.94767266C>G g.93755038C>G TMEM67(NM_153704.5):c.124C>G (p.P42A) - TMEM67_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.137C>A r.(?) p.(Pro46Gln) - VUS g.94767279C>A g.93755051C>A TMEM67(NM_153704.5):c.137C>A (p.P46Q) - TMEM67_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/+? 1 1b c.161A>G r.(161a>g) p.(Tyr54Cys) - likely pathogenic g.94767303A>G g.93755075A>G c.161A>G: p.Tyr54Cys - TMEM67_000002 1 European MKS3 family (com-het) PubMed: Tallila et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
-?/. 1 - c.186T>C r.(?) p.(Cys62=) - likely benign g.94767328T>C g.93755100T>C TMEM67(NM_153704.5):c.186T>C (p.C62=) - TMEM67_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.194G>T r.(?) p.(Cys65Phe) - VUS g.94767336G>T g.93755108G>T TMEM67(NM_153704.5):c.194G>T (p.C65F) - TMEM67_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.224-4_224-3del r.spl? p.? - benign g.94768002_94768003del g.93755774_93755775del TMEM67(NM_153704.5):c.224-4_224-3delTT - TMEM67_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 1 1i c.224-2del r.224_312del p.(Gly75Glufs*15) - pathogenic g.94768004del g.93755776del IVS1-2delA: 224del89: G75fsX89: Skips exon 2 - TMEM67_000003 RNA skips exon 2;1 German-Polish MKS3 family (com-het) PubMed: Consugar et al. 2007 - - SUMMARY record yes - - - - Anne Polvi
?/. 1 - c.274G>A r.(?) p.(Gly92Arg) - VUS g.94768056G>A g.93755828G>A - - TMEM67_000132 - PubMed: Riazuddin 2017 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.312+2T>G r.spl? p.? - likely pathogenic g.94768096T>G g.93755868T>G TMEM67(NM_153704.5):c.312+2T>G - TMEM67_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 2i c.313-3T>G r.313_316del p.Lys105Valfs*16 - likely pathogenic (recessive) g.94770708T>G g.93758480T>G - - TMEM67_000125 - - - - Germline yes - - - - Minh Tuan Huynh
?/. 1 - c.316G>A r.(?) p.(Gly106Ser) - VUS g.94770714G>A g.93758486G>A - - TMEM67_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.329A>G r.328a>g p.Asp110Gly - pathogenic (recessive) g.94770727A>G g.93758499A>G - - TMEM67_000128 - PubMed: Tsurusaki 2013 - - Germline - - - - - Johan den Dunnen
-?/., -/. 2 - c.369C>T r.(?) p.(Ala123=) - likely benign, benign g.94770767C>T g.93758539C>T TMEM67(NM_153704.5):c.369C>T (p.A123=) - TMEM67_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/+ 1 3a c.383_384del r.(383_384del) p.(His128Leufs*13) - pathogenic g.94770781_94770782del g.93758553_93758554del 383-384delAC: H128fsX140 - TMEM67_000004 1 Omani MKS3 family (hom); not in 120 controls PubMed: Smith et al. 2006 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 3a c.387T>A r.(387u>a) p.(Cys129*) - pathogenic g.94770785T>A g.93758557T>A c.387T>A: p.C129X - TMEM67_000037 1 Italian MKS3 family (com-het) PubMed: Iannicelli et al. 2010 - - SUMMARY record yes - - - - Anne Polvi
+/. 1 - c.406+1300C>T r.(=) p.(=) - pathogenic g.94772104C>T g.93759876C>T TMEM67(NM_001142301.1):c.46C>T (p.R16*) - TMEM67_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.406+1301G>A r.(=) p.(=) - likely benign g.94772105G>A g.93759877G>A TMEM67(NM_001142301.1):c.47G>A (p.R16Q) - TMEM67_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.406+1332C>T r.(=) p.(=) - benign g.94772136C>T g.93759908C>T - - TMEM67_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., -/. 3 - c.406+1361C>T r.(=) p.(=) - likely benign, benign g.94772165C>T g.93759937C>T TMEM67(NM_001142301.1):c.107C>T (p.(Pro36Leu), p.P36L) - TMEM67_000059 VKGL data sharing initiative Nederland, 87 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs73324992 CLASSIFICATION record, Germline - 87/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, Mohammed Faruq
-?/., -/. 2 - c.406+1379G>A r.(=) p.(=) - likely benign, benign g.94772183G>A g.93759955G>A TMEM67(NM_001142301.1):c.125G>A (p.(Cys42Tyr), p.C42Y) - TMEM67_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
?/. 1 - c.406+1421A>G r.(=) p.(=) - VUS g.94772225A>G g.93759997A>G TMEM67(NM_153704.5):c.406+1421A>G - TMEM67_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.407-894_407-893del r.(=) p.(=) - benign g.94775176_94775177del g.93762948_93762949del TMEM67(NM_153704.5):c.407-894_407-893delAG - TMEM67_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 4 c.415_416del r.(?) p.(Asp139Hisfs*2) - pathogenic g.94776078_94776079del g.93763850_93763851del - - TMEM67_000047 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - - - Christopher Watson
-/. 1 - c.429A>T r.(?) p.(Thr143=) - benign g.94776092A>T g.93763864A>T TMEM67(NM_153704.5):c.429A>T (p.T143=) - TMEM67_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.511G>A r.(?) p.(Val171Ile) - VUS g.94777638G>A g.93765410G>A TMEM67(NM_153704.5):c.511G>A (p.V171I) - TMEM67_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 5 c.514C>T r.(?) p.(Arg172*), p.(Arg172Ter) - pathogenic g.94777641C>T g.93765413C>T TMEM67(NM_153704.5):c.514C>T (p.R172*) - TMEM67_000049 VKGL data sharing initiative Nederland PubMed: Watson 2016, Journal: Watson 2016 - - Germline, CLASSIFICATION record - - - - - Christopher Watson, VKGL-NL_Utrecht
-?/. 1 - c.561A>G r.(?) p.(Ser187=) - likely benign g.94777688A>G g.93765460A>G TMEM67(NM_153704.5):c.561A>G (p.S187=) - TMEM67_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.576+10A>T r.(=) p.(=) - likely benign g.94777713A>T g.93765485A>T TMEM67(NM_153704.5):c.576+10A>T - TMEM67_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.577-11T>C r.(=) p.(=) - likely benign g.94777789T>C g.93765561T>C TMEM67(NM_153704.5):c.577-11T>C - TMEM67_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., +/+ 2 7 c.579del r.(?) p.(Gly195AspfsTer27), p.(Gly195Aspfs*27) - pathogenic g.94777802del g.93765574del TMEM67(NM_153704.5):c.579delA (p.G195Dfs*27), 579delA: T193fsX221 - TMEM67_000080, TMEM67_000005 VKGL data sharing initiative Nederland, 2 European MKS3 families (1 hom and 1 com-het) PubMed: Consugar et al. 2007, PubMed: Iannicelli et al. 2010 - - CLASSIFICATION record, SUMMARY record yes - - - - VKGL-NL_Rotterdam, Anne Polvi
+/+, +/. 4 7, 6 c.579_580del r.(?) p.(Gly195Ilefs*13), p.(Gly195IlefsTer13) - pathogenic g.94777802_94777803del g.93765574_93765575del c.579_580delAG: p.G195IfsX13, TMEM67(NM_153704.5):c.579_580delAG (p.G195Ifs*13) - TMEM67_000038, TMEM67_000048 1 Moroccan MKS3 family (hom), VKGL data sharing initiative Nederland PubMed: Iannicelli et al. 2010, PubMed: Watson 2016, Journal: Watson 2016 - - SUMMARY record, Germline, CLASSIFICATION record yes - - - - Anne Polvi, Christopher Watson, VKGL-NL_AMC, VKGL-NL_Nijmegen
?/. 1 - c.584G>T r.(?) p.(Gly195Val) - VUS g.94777807G>T g.93765579G>T - - TMEM67_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/., +?/. 9 7, 6 c.622A>T r.(622a>u), r.(?) p.(Arg208*), p.(Arg208Ter) - pathogenic, likely pathogenic, pathogenic (recessive) g.94777845A>T g.93765617A>T 622A>T: R208X, TMEM67(NM_153704.5):c.622A>T (p.R208*) - TMEM67_000006 4 European MKS3 families (all com-het), VKGL data sharing initiative Nederland PubMed: Consugar et al. 2007, PubMed: Kahaddour et al. 2007, PubMed: Watson 2016, Journal: Watson 2016, 1 more item - rs137853108 SUMMARY record, Germline, Unknown, CLASSIFICATION record yes, ? - - - - Anne Polvi, Christopher Watson, Sanne Savelberg, VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Francesco Brancati
+/+ 1 7 c.648del r.(?) p.(Val217Leufs*5) - pathogenic g.94777871del g.93765643del c.647delA: E216fsX221 - TMEM67_000007 1 Pakistani MKS3 family (hom) PubMed: Smith et al. 2006 - - SUMMARY record yes 0/120 CON - - - Anne Polvi
+?/+?, +?/. 2 7i c.651+2T>G r.spl? p.? - likely pathogenic g.94777876T>G g.93765648T>G c.651+2G>T: Splicing, TMEM67(NM_153704.5):c.651+2T>G - TMEM67_000008 affects splicing;1 French MKS3 family (com-het), VKGL data sharing initiative Nederland PubMed: Kahaddour et al. 2007 - - SUMMARY record, CLASSIFICATION record yes - - - - Anne Polvi, VKGL-NL_VUmc
?/., -?/. 3 - c.653G>C r.(?) p.(Gly218Ala) - VUS, likely benign g.94784818G>C g.93772590G>C TMEM67(NM_153704.5):c.653G>C (p.G218A) - TMEM67_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/+ 1 8 c.675G>A r.(675g>a) p.(Trp225*) - pathogenic g.94784840G>A g.93772612G>A c.675G>A: p.W225X - TMEM67_000039 1 Italian MKS3 family (com-het) PubMed: Iannicelli et al. 2010 - - SUMMARY record yes - - - - Anne Polvi
-?/., ?/. 2 - c.717A>G r.(?) p.(Val239=) - likely benign, VUS g.94792823A>G g.93780595A>G TMEM67(NM_001142301.1):c.474A>G (p.(=)), TMEM67(NM_153704.5):c.717A>G (p.V239=) - TMEM67_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Leiden
+?/., +/. 2 8 c.725A>G r.(?) p.(Asn242Ser) - likely pathogenic, likely pathogenic (recessive) g.94792831A>G g.93780603A>G - - TMEM67_000042 - - 212652 - Germline ?, yes - - - - Sanne Savelberg, Minh Tuan Huynh
+?/+? 1 9 c.734C>T r.(734c>u) p.(Ser245Phe) - likely pathogenic g.94792840C>T g.93780612C>T c.734C>T: p.Ser245Phe - TMEM67_000009 1 European MKS3 family (com-het) PubMed: Tallila et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+?/+?, +?/., +/. 3 9 c.755T>C r.(755u>c), r.(?) p.(Met252Thr) - likely pathogenic, pathogenic g.94792861T>C g.93780633T>C 755T>C: M252T, TMEM67(NM_153704.5):c.755T>C (p.M252T) - TMEM67_000010 5 European MKS3 families (all com-het), VKGL data sharing initiative Nederland 1 more item - - SUMMARY record, CLASSIFICATION record yes 0/25 CON - - - Anne Polvi, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/., -?/. 6 - c.781G>A r.(?) p.(Asp261Asn) - benign, likely benign g.94792887G>A g.93780659G>A TMEM67(NM_001142301.1):c.538G>A (p.(Asp180Asn)), TMEM67(NM_153704.5):c.781G>A (p.D261N) - TMEM67_000081 VKGL data sharing initiative Nederland, 137 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35793208 CLASSIFICATION record, Germline - 137/2793 individuals - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_VUmc, Mohammed Faruq
+?/., ?/. 2 8 c.797A>C r.(?) p.(Asp266Ala) - likely pathogenic, VUS g.94792903A>C g.93780675A>C TMEM67(NM_001142301.1):c.554A>C (p.(Asp185Ala)) - TMEM67_000045 VKGL data sharing initiative Nederland - - - Unknown, CLASSIFICATION record ? - - - - Sanne Savelberg, VKGL-NL_Leiden
?/. 1 - c.857C>G r.(?) p.(Ser286Cys) - VUS g.94792963C>G g.93780735C>G TMEM67(NM_153704.5):c.857C>G (p.S286C) - TMEM67_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.869+9A>G r.(=) p.(=) - benign g.94792984A>G g.93780756A>G TMEM67(NM_153704.5):c.869+9A>G - TMEM67_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/+? 1 9i c.870-2A>G r.spl p.? - likely pathogenic g.94793100A>G g.93780872A>G INV8-2A>G: Splice change - TMEM67_000011 affects splicing;2 Pakistani MKS3 family (hom) PubMed: Smith et al. 2006, PubMed: Kahaddour et al. 2007 - - SUMMARY record yes 0/120 CON - - - Anne Polvi
+?/+? 1 10 c.888G>T r.(888g>u) p.(Trp296Cys) - likely pathogenic g.94793120G>T g.93780892G>T c.888G>T: p.Trp296Cys - TMEM67_000013 1 European MKS3 family (com-het) PubMed: Tallila et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
?/. 2 - c.958A>T r.(?) p.(Ser320Cys) - VUS g.94793190A>T g.93780962A>T TMEM67(NM_153704.5):c.958A>T (p.S320C) - TMEM67_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
-?/. 1 - c.978+5A>C r.spl? p.? - likely benign g.94793215A>C g.93780987A>C TMEM67(NM_001142301.1):c.735+5A>C (p.?) - TMEM67_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/+?, +/. 2 11, 10 c.1046T>C r.(1046t>c), r.(?) p.(Leu349Ser) - likely pathogenic, pathogenic g.94793953T>C g.93781725T>C c.1046T>C: p.L349S - TMEM67_000014 2 French (com-het) and 1 Algerian MKS3 family (hom) PubMed: Kahaddour et al. 2007, PubMed: Iannicelli et al. 2010, 1 more item - - SUMMARY record, Germline yes - - - - Anne Polvi, Christopher Watson
+?/+? 1 11i c.1065+1del r.spl? p.(Gln355HisfsTer10) - likely pathogenic g.94793973del g.93781745del c.1065+1delG: splice - TMEM67_000015 affects splicing;1 Palestinian MKS3 family (hom) PubMed: Kahaddour et al. 2007 - - SUMMARY record yes - - - - Anne Polvi
-/. 3 - c.1066-3C>T r.spl? p.? - benign g.94794620C>T g.93782392C>T TMEM67(NM_153704.5):c.1066-3C>T - TMEM67_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.1073C>T r.(?) p.(Pro358Leu) - VUS g.94794630C>T g.93782402C>T TMEM67(NM_153704.5):c.1073C>T (p.P358L) - TMEM67_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1078A>G r.(?) p.(Thr360Ala) - VUS g.94794635A>G g.93782407A>G TMEM67(NM_153704.5):c.1078A>G (p.T360A) - TMEM67_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 11 c.1115C>A r.(?) p.(Thr372Lys) - likely pathogenic g.94794672C>A g.93782444C>A - - TMEM67_000043 - - - - Unknown ? - - - - Sanne Savelberg
+/+ 1 12 c.1127A>C r.(1127a>c) p.(Gln376Pro) - pathogenic g.94794684A>C g.93782456A>C c.1127A>C: Q376P - TMEM67_000016 1 Pakistani MKS3 family (hom) PubMed: Smith et al. 2006 - rs137853106 SUMMARY record yes 0/120 CON - - - Anne Polvi
-?/. 1 - c.1145T>G r.(?) p.(Ile382Ser) - likely benign g.94797463T>G g.93785235T>G TMEM67(NM_153704.5):c.1145T>G (p.I382S) - TMEM67_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 13 c.1289A>G r.(1289_1412del) p.(Asp430Serfs*9) - pathogenic (recessive) g.94798451A>G g.93786223A>G - - TMEM67_000084 effect on splicing investigated with mini-gene splicing assay PubMed: Brancati 2018, Journal: Brancati 2018 - rs967792092 Germline - - - - - Francesco Brancati
?/., -?/. 5 - c.1309C>G r.(?) p.(Leu437Val) - VUS, likely benign g.94798471C>G g.93786243C>G TMEM67(NM_001142301.1):c.1066C>G (p.(Leu356Val)), TMEM67(NM_153704.5):c.1309C>G (p.L437V) - TMEM67_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_VUmc
+?/+?, +/. 2 14, 13 c.1319G>A r.(1319g>a), r.(?) p.(Arg440Gln) - likely pathogenic, pathogenic g.94798481G>A g.93786253G>A 1319G>A: R440Q - TMEM67_000017 4 European MKS3 families (1 hom and 3 com-het) PubMed: Watson 2016, Journal: Watson 2016, 1 more item - - SUMMARY record, Germline yes 0/25 CON - - - Anne Polvi, Christopher Watson
?/. 1 - c.1322G>A r.(?) p.(Arg441His) - VUS g.94798484G>A g.93786256G>A TMEM67(NM_001142301.1):c.1079G>A (p.(Arg360His)) - TMEM67_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/+?, ?/. 2 14 c.1322G>T r.(1322g>u), r.(?) p.(Arg441Leu) - likely pathogenic, VUS g.94798484G>T g.93786256G>T c.1322G>T: p.R441L - TMEM67_000041 1 French MKS3 family (com-het), 2 heterozygous, no homozygous; Clinindb (India) PubMed: Iannicelli et al. 2010, PubMed: Narang 2020, Journal: Narang 2020 - rs386834183 SUMMARY record, Germline yes 2/2795 individuals - - - Anne Polvi, Mohammed Faruq
+?/+? 1 14 c.1336G>C r.(1336g>c) p.(Asp446His) - likely pathogenic g.94798498G>C g.93786270G>C c.1336G>C: p.D446H - TMEM67_000018 1 Moroccan MKS3 family (com-het) PubMed: Kahaddour et al. 2007 - - SUMMARY record yes - - - - Anne Polvi
+?/. 1 - c.1338_1350del r.(?) p.(Ala447Glufs*5) ACMG likely pathogenic g.94798500_94798512del g.93786272_93786284del - - TMEM67_000126 ACMG: PVS1,PM2; detected in prenatal test - parents consaguinous - - - Germline - - - - - Andreas Laner
+/+ 1 14 c.1351C>T r.(1351c>u) p.(Arg451*) - pathogenic g.94798513C>T g.93786285C>T 1351C>T: R451X - TMEM67_000019 1 Swedish-German MKS3 family (com-het) PubMed: Consugar et al. 2007 - rs116647652 SUMMARY record yes - - - - Anne Polvi
-?/. 1 - c.1379G>C r.(?) p.(Arg460Thr) - likely benign g.94798541G>C g.93786313G>C TMEM67(NM_153704.5):c.1379G>C (p.R460T) - TMEM67_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 14i c.1413-1G>C r.spl? p.? - likely pathogenic g.94800071G>C g.93787843G>C c. T1413-1G>C: Splice - TMEM67_000034 affects splicing;1 French MKS3 family (com-het) PubMed: Iannicelli et al. 2010 - - SUMMARY record yes - - - - Anne Polvi
+?/+?, +/. 3 16 c.1538A>G r.(1538a>g), r.(?) p.(Tyr513Cys) - likely pathogenic, pathogenic g.94803510A>G g.93791282A>G c.1538A>G: p.Tyr513Cys, TMEM67(NM_153704.5):c.1538A>G (p.Y513C) - TMEM67_000020 1 European MKS3 family (com-het), VKGL data sharing initiative Nederland, 1 more item PubMed: Tallila et al. 2009, PubMed: Narang 2020, Journal: Narang 2020 - rs137853107 SUMMARY record, CLASSIFICATION record, Germline yes 1/2792 individuals - - - Anne Polvi, VKGL-NL_Utrecht, Mohammed Faruq
+/+ 1 16 c.1538_1539del r.(?) p.(Tyr513*) - pathogenic g.94803510_94803511del g.93791282_93791283del c.1538_1539delAT: p.Y513X - TMEM67_000036 1 Senegal MKS3 family (hom) PubMed: Iannicelli et al. 2010 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 16i c.1575+1G>A r.spl p.? - likely pathogenic g.94803548G>A g.93791320G>A c.1575+1G>A: splice - TMEM67_000021 affects splicing;3 Pakistani MKS3 families (hom) PubMed: Kahaddour et al. 2007, PubMed: Smith et al. 2006 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 16i_21i c.(1674+1_1675-1)_(2241+1_2242-1)del r.1675_2241del p.Thr559_Gln747del - pathogenic g.(94805525_94807636)_(94811987_94815831)del - c.1675-?_2241+?del: deletion from exon 17 to 22: p.T559_Q747del - TMEM67_000023 1 Ivory Coast MKS3 family (hom) PubMed: Kahaddour et al. 2007 - - SUMMARY record yes - - - - Anne Polvi
?/. 1 - c.1700A>G r.(?) p.(Tyr567Cys) - VUS g.94807662A>G g.93795434A>G TMEM67(NM_001142301.1):c.1457A>G (p.(Tyr486Cys)) - TMEM67_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1730T>C r.(?) p.(Ile577Thr) - VUS g.94807692T>C g.93795464T>C TMEM67(NM_153704.5):c.1730T>C (p.I577T) - TMEM67_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., ?/. 2 17 c.1769T>C r.(?) p.(Phe590Ser) - pathogenic, VUS g.94807731T>C g.93795503T>C - - TMEM67_000001 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - Germline, Unknown - - - - - Johan den Dunnen, Gerard C.P. Schaafsma
-/. 1 - c.1774-81del r.(=) p.(=) - benign g.94808048del g.93795820del TMEM67(NM_153704.5):c.1774-81delA - TMEM67_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1774-6T>A r.(=) p.(=) - likely benign g.94808123T>A g.93795895T>A TMEM67(NM_153704.5):c.1774-6T>A - TMEM67_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 3 - c.1810A>G r.(?) p.(Ile604Val) - benign g.94808165A>G g.93795937A>G TMEM67(NM_153704.5):c.1810A>G (p.I604V) - TMEM67_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Groningen
?/. 1 - c.1837G>A r.(?) p.(Val613Ile) - VUS g.94808192G>A g.93795964G>A TMEM67(NM_153704.5):c.1837G>A (p.V613I) - TMEM67_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 19 c.1843T>C r.(1843u>c) p.(Cys615Arg) - likely pathogenic g.94808198T>C g.93795970T>C c.1843T>C: p.Cys615Arg - TMEM67_000024 1 European MKS3 family (com-het) PubMed: Tallila et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
-/. 1 - c.1861-177C>T r.(=) p.(=) - benign g.94809185C>T g.93796957C>T TMEM67(NM_153704.5):c.1861-177C>T - TMEM67_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.1861-1G>A r.spl? p.? - likely pathogenic g.94809361G>A - TMEM67(NM_153704.5):c.1861-1G>A - TMEM67_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1895T>G r.(?) p.(Ile632Ser) - VUS g.94809396T>G g.93797168T>G TMEM67(NM_153704.5):c.1895T>G (p.I632S) - TMEM67_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 19i c.1960+1G>A r.spl? p.? - pathogenic g.94809462G>A g.93797234G>A - - TMEM67_000050 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - - - Christopher Watson
+?/+? 1 21 c.2002T>C r.(2002u>c) p.(Trp668Arg) - likely pathogenic g.94809600T>C g.93797372T>C c.2002T>C: p.W668R - TMEM67_000029 1 French MKS3 family (com-het) PubMed: Iannicelli et al. 2010 - - SUMMARY record yes - - - - Anne Polvi
-/. 1 - c.2010A>G r.(?) p.(Thr670=) - benign g.94809608A>G g.93797380A>G TMEM67(NM_153704.5):c.2010A>G (p.T670=) - TMEM67_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2083G>C r.(?) p.(Val695Leu) - likely benign g.94809681G>C g.93797453G>C TMEM67(NM_153704.5):c.2083G>C (p.V695L) - TMEM67_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 5 - c.2241G>A r.(?) p.(Gln747=) - likely benign, VUS g.94811986G>A g.93799758G>A TMEM67(NM_001142301.1):c.1998G>A (p.(=)), TMEM67(NM_153704.5):c.2241G>A (p.Q747=) - TMEM67_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC, VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_Nijmegen
+/. 1 - c.2241+1G>A r.spl? p.? - pathogenic g.94811987G>A g.93799759G>A - - TMEM67_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.2290C>T r.(?) p.(Arg764Ter) - pathogenic g.94815880C>T g.93803652C>T TMEM67(NM_153704.5):c.2290C>T (p.R764*) - TMEM67_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/., -?/. 2 - c.2299G>A r.(?) p.(Val767Ile) - VUS, likely benign g.94815889G>A g.93803661G>A TMEM67(NM_001142301.1):c.2056G>A (p.(Val686Ile)), TMEM67(NM_153704.5):c.2299G>A (p.V767I) - TMEM67_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Leiden
+/+ 1 23 c.2301del r.(2301del) p.(Asp768Ilefs*5) - pathogenic g.94815891del g.93803663del c.2301delT: p.D768IfsX5 - TMEM67_000035 1 French MKS3 family (com-het) PubMed: Iannicelli et al. 2010 - - SUMMARY record yes - - - - Anne Polvi
+/. 1 - c.2306del r.(?) p.(Leu769Tyrfs*4) - pathogenic (recessive) g.94815896del g.93803668del 2306delT - TMEM67_000090 - PubMed: Shaheen 2013 - - Germline - - - - - Johan den Dunnen
+?/+? 1 23i c.2322+2dup r.spl? p.? - likely pathogenic g.94815914dup g.93803686dup c.T2322+2dupT: Splice - TMEM67_000040 affects splicing;1 American MKS3 family (com-het) PubMed: Iannicelli et al. 2010 - - SUMMARY record yes - - - - Anne Polvi
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