Full data view for gene TMEM67

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

186 entries on 2 pages. Showing entries 1 - 100.
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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.25G>A r.(?) p.(Val9Met) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.29C>T r.(?) p.(Ala10Val) Unknown - VUS g.94767171C>T g.93754943C>T - - TMEM67_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.37G>A r.(?) p.(Val13Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.41G>A r.(?) p.(Trp14*) Parent #1 - likely pathogenic g.94767183G>A g.93754955G>A - - TMEM67_000046 - - - - Unknown ? - - 0 - DNA SEQ-NG-S blood - JBTS-1 - - - - - - - - 0 - - 1 Sanne Savelberg
-?/. - c.66G>A r.(?) p.(Val22=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.114C>T r.(?) p.(Thr38=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.120T>C r.(?) p.(Ser40=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.120T>C r.(?) p.(Ser40=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.124C>G r.(?) p.(Pro42Ala) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.137C>A r.(?) p.(Pro46Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1b c.161A>G r.(161a>g) p.(Tyr54Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.186T>C r.(?) p.(Cys62=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.194G>T r.(?) p.(Cys65Phe) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.224-4_224-3del r.spl? p.? Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 1i c.224-2del r.224_312del p.(Gly75Glufs*15) Maternal (confirmed) - 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 - - - - - - - - - - - - - - - - - - - - - -
?/. - c.274G>A r.(?) p.(Gly92Arg) Both (homozygous) - VUS g.94768056G>A g.93755828G>A - - TMEM67_000132 - PubMed: Riazuddin 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ID PKMR151 PubMed: Riazuddin 2017 - - yes Pakistan - - 0 - - 1 Johan den Dunnen
+?/. - c.312+2T>G r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.313-3T>G r.313_316del p.Lys105Valfs*16 Maternal (confirmed) - likely pathogenic (recessive) g.94770708T>G g.93758480T>G - - TMEM67_000125 - - - - Germline yes - - 0 - DNA SEQ-NG-I Blood sample, amniotic fluid WES JBTS-1 - - - M no Viet Nam;(Viet Nam) Asian - 0 yes - 2 Minh Tuan Huynh
?/. - c.316G>A r.(?) p.(Gly106Ser) Unknown - VUS g.94770714G>A g.93758486G>A - - TMEM67_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.329A>G r.328a>g p.Asp110Gly Parent #1 - pathogenic (recessive) g.94770727A>G g.93758499A>G - - TMEM67_000128 - PubMed: Tsurusaki 2013 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES JBTS Fam3 PubMed: Tsurusaki 2013 2-generation family, 1 affected M - Japan - - 0 - - 1 Johan den Dunnen
-?/. - c.369C>T r.(?) p.(Ala123=) Unknown - likely 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.369C>T r.(?) p.(Ala123=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3a c.383_384del r.(383_384del) p.(His128Leufs*13) Both (homozygous) - 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 - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3a c.387T>A r.(387u>a) p.(Cys129*) Paternal (confirmed) - 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 - - - - - - - - - - - - - - - - - - - - - -
+/. - c.406+1300C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.406+1301G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.406+1332C>T r.(=) p.(=) Unknown - benign g.94772136C>T g.93759908C>T - - TMEM67_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.406+1361C>T r.(=) p.(=) Unknown - 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 - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.406+1361C>T r.(=) p.(=) Unknown - likely 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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.406+1361C>T r.(=) p.(=) Parent #1 - benign g.94772165C>T g.93759937C>T - - TMEM67_000059 87 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs73324992 Germline - 87/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 87 Mohammed Faruq
-/. - c.406+1379G>A r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.406+1379G>A r.(=) p.(=) Unknown - likely 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.406+1421A>G r.(=) p.(=) Unknown - VUS g.94772225A>G g.93759997A>G TMEM67(NM_153704.5):c.406+1421A>G - TMEM67_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.407-894_407-893del r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.415_416del r.(?) p.(Asp139Hisfs*2) Both (homozygous) - pathogenic g.94776078_94776079del g.93763850_93763851del - - TMEM67_000047 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG - - MKS-1 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - 1 Christopher Watson
-/. - c.429A>T r.(?) p.(Thr143=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.511G>A r.(?) p.(Val171Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.514C>T r.(?) p.(Arg172*) Parent #1 - pathogenic g.94777641C>T g.93765413C>T - - TMEM67_000049 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG - - MKS-1 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - 1 Christopher Watson
+/. - c.514C>T r.(?) p.(Arg172Ter) Unknown - pathogenic g.94777641C>T - TMEM67(NM_153704.5):c.514C>T (p.R172*) - TMEM67_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.561A>G r.(?) p.(Ser187=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.576+10A>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.577-11T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.579del r.(?) p.(Gly195Aspfs*27) Paternal (confirmed) - pathogenic g.94777802del g.93765574del 579delA: T193fsX221 - TMEM67_000005 2 European MKS3 families (1 hom and 1 com-het) PubMed: Consugar et al. 2007, PubMed: Iannicelli et al. 2010 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. - c.579del r.(?) p.(Gly195AspfsTer27) Unknown - pathogenic g.94777802del g.93765574del TMEM67(NM_153704.5):c.579delA (p.G195Dfs*27) - TMEM67_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 7 c.579_580del r.(?) p.(Gly195Ilefs*13) Unknown - pathogenic g.94777802_94777803del g.93765574_93765575del c.579_580delAG: p.G195IfsX13 - TMEM67_000038 1 Moroccan MKS3 family (hom) PubMed: Iannicelli et al. 2010 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.579_580del r.(?) p.(Gly195Ilefs*13) Both (homozygous) - pathogenic g.94777802_94777803del g.93765574_93765575del - - TMEM67_000048 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG - - MKS-1 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - 1 Christopher Watson
+/. - c.579_580del r.(?) p.(Gly195IlefsTer13) Unknown - pathogenic g.94777802_94777803del g.93765574_93765575del TMEM67(NM_153704.5):c.579_580delAG (p.G195Ifs*13) - TMEM67_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.579_580del r.(?) p.(Gly195IlefsTer13) Unknown - pathogenic g.94777802_94777803del g.93765574_93765575del TMEM67(NM_153704.5):c.579_580delAG (p.G195Ifs*13) - TMEM67_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.584G>T r.(?) p.(Gly195Val) Unknown - VUS g.94777807G>T g.93765579G>T - - TMEM67_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.622A>T r.(622a>u) p.(Arg208*) Unknown - pathogenic g.94777845A>T g.93765617A>T 622A>T: R208X - TMEM67_000006 4 European MKS3 families (all com-het) PubMed: Consugar et al. 2007, PubMed: Kahaddour et al. 2007 - rs137853108 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.622A>T r.(?) p.(Arg208*) Parent #1 - likely pathogenic g.94777845A>T g.93765617A>T - - TMEM67_000006 - - - rs137853108 Unknown ? - - 0 - DNA SEQ-NG-S blood - JBTS-1 - - - - - - - - 0 - - 1 Sanne Savelberg
+?/. 6 c.622A>T r.(?) p.(Arg208*) Parent #1 - likely pathogenic g.94777845A>T g.93765617A>T - - TMEM67_000006 - - - rs137853108 Unknown ? - - 0 - DNA SEQ-NG-S blood - JBTS-1 - - - - - - - - 0 - - 1 Sanne Savelberg
+/. 6 c.622A>T r.(?) p.(Arg208*) Parent #2 - pathogenic g.94777845A>T g.93765617A>T - - TMEM67_000006 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG - - MKS-1 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - 1 Christopher Watson
+/. - c.622A>T r.(?) p.(Arg208Ter) Unknown - pathogenic g.94777845A>T g.93765617A>T TMEM67(NM_153704.5):c.622A>T (p.R208*) - TMEM67_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.622A>T r.(?) p.(Arg208Ter) Unknown - pathogenic g.94777845A>T g.93765617A>T TMEM67(NM_153704.5):c.622A>T (p.R208*) - TMEM67_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.622A>T r.(?) p.(Arg208Ter) Unknown - pathogenic g.94777845A>T g.93765617A>T TMEM67(NM_153704.5):c.622A>T (p.R208*) - TMEM67_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.622A>T r.(?) p.(Arg208Ter) Unknown - pathogenic g.94777845A>T g.93765617A>T TMEM67(NM_153704.5):c.622A>T (p.R208*) - TMEM67_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.622A>T r.(?) p.(Arg208*) Paternal (confirmed) - pathogenic (recessive) g.94777845A>T g.93765617A>T - - TMEM67_000006 - PubMed: Brancati 2018, Journal: Brancati 2018 - rs137853108 Germline - - - 0 - DNA SEQ-NG - - RHYNS FamPatII1 PubMed: Di Rocco 1997, PubMed: Brancati 2018, Journal: Brancati 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Italy - - 0 - - 1 Francesco Brancati
+/+ 7 c.648del r.(?) p.(Val217Leufs*5) Both (homozygous) - 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 - - - - - - - - - - - - - - - - - - - - -
+?/+? 7i c.651+2T>G r.spl? p.? Unknown - likely pathogenic g.94777876T>G g.93765648T>G c.651+2G>T: Splicing - TMEM67_000008 affects splicing;1 French MKS3 family (com-het) PubMed: Kahaddour et al. 2007 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.651+2T>G r.spl? p.? Unknown - likely pathogenic g.94777876T>G g.93765648T>G TMEM67(NM_153704.5):c.651+2T>G - TMEM67_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.653G>C r.(?) p.(Gly218Ala) Unknown - VUS g.94784818G>C g.93772590G>C TMEM67(NM_153704.5):c.653G>C (p.G218A) - TMEM67_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.653G>C r.(?) p.(Gly218Ala) Unknown - VUS g.94784818G>C g.93772590G>C TMEM67(NM_153704.5):c.653G>C (p.G218A) - TMEM67_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.653G>C r.(?) p.(Gly218Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.675G>A r.(675g>a) p.(Trp225*) Maternal (confirmed) - 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 - - - - - - - - - - - - - - - - - - - - - -
?/. - c.717A>G r.(?) p.(Val239=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.717A>G r.(?) p.(Val239=) Unknown - likely benign 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.725A>G r.(?) p.(Asn242Ser) Both (homozygous) - likely pathogenic g.94792831A>G g.93780603A>G - - TMEM67_000042 - - - - Germline ? - - 0 - DNA SEQ-NG-S blood - JBTS-1 - - - - - - - - 0 - - 1 Sanne Savelberg
+/. 8 c.725A>G r.(?) p.(Asn242Ser) Paternal (confirmed) - likely pathogenic (recessive) g.94792831A>G g.93780603A>G - - TMEM67_000042 - - 212652 - Germline yes - - 0 - DNA SEQ-NG-I Blood sample, amniotic fluid WES JBTS-1 - - - M no Viet Nam;(Viet Nam) Asian - 0 yes - 2 Minh Tuan Huynh
+?/+? 9 c.734C>T r.(734c>u) p.(Ser245Phe) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - -
+?/+? 9 c.755T>C r.(755u>c) p.(Met252Thr) Unknown - likely pathogenic g.94792861T>C g.93780633T>C 755T>C: M252T - TMEM67_000010 5 European MKS3 families (all com-het) PubMed: Consugar et al. 2007, PubMed: Kahaddour et al. 2007, PubMed: Tallila et al. 2009, PubMed: Iannicelli et al. 2010 - - SUMMARY record yes 0/25 CON - - - - - - - - - - - - - - - - - - - - -
+?/. - c.755T>C r.(?) p.(Met252Thr) Unknown - likely pathogenic g.94792861T>C g.93780633T>C TMEM67(NM_153704.5):c.755T>C (p.M252T) - TMEM67_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.755T>C r.(?) p.(Met252Thr) Unknown - pathogenic g.94792861T>C g.93780633T>C TMEM67(NM_153704.5):c.755T>C (p.M252T) - TMEM67_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.781G>A r.(?) p.(Asp261Asn) Unknown - 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 - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.781G>A r.(?) p.(Asp261Asn) Unknown - 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 - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.781G>A r.(?) p.(Asp261Asn) Unknown - 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 - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.781G>A r.(?) p.(Asp261Asn) Unknown - 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 - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.781G>A r.(?) p.(Asp261Asn) Unknown - 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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.781G>A r.(?) p.(Asp261Asn) Parent #1 - benign g.94792887G>A g.93780659G>A - - TMEM67_000081 137 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35793208 Germline - 137/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 137 Mohammed Faruq
+?/. 8 c.797A>C r.(?) p.(Asp266Ala) Parent #1 - likely pathogenic g.94792903A>C g.93780675A>C - - TMEM67_000045 - - - - Unknown ? - - 0 - DNA SEQ-NG-S blood - JBTS-1 - - - - - - - - 0 - - 1 Sanne Savelberg
?/. - c.797A>C r.(?) p.(Asp266Ala) Unknown - VUS g.94792903A>C g.93780675A>C TMEM67(NM_001142301.1):c.554A>C (p.(Asp185Ala)) - TMEM67_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.857C>G r.(?) p.(Ser286Cys) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.869+9A>G r.(=) p.(=) Unknown - benign g.94792984A>G g.93780756A>G TMEM67(NM_153704.5):c.869+9A>G - TMEM67_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 9i c.870-2A>G r.spl p.? Both (homozygous) - 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 - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 10 c.888G>T r.(888g>u) p.(Trp296Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - -
?/. - c.958A>T r.(?) p.(Ser320Cys) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.958A>T r.(?) p.(Ser320Cys) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.978+5A>C r.spl? p.? Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 11 c.1046T>C r.(1046t>c) p.(Leu349Ser) Maternal (confirmed) - likely 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 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1046T>C r.(?) p.(Leu349Ser) Parent #2 - pathogenic g.94793953T>C g.93781725T>C - - TMEM67_000014 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - 0 - DNA SEQ-NG - - MKS-1 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - 1 Christopher Watson
+?/+? 11i c.1065+1del r.spl? p.(Gln355HisfsTer10) Both (homozygous) - 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 - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1066-3C>T r.spl? p.? Unknown - benign g.94794620C>T g.93782392C>T TMEM67(NM_153704.5):c.1066-3C>T - TMEM67_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1066-3C>T r.spl? p.? Unknown - benign g.94794620C>T g.93782392C>T TMEM67(NM_153704.5):c.1066-3C>T - TMEM67_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1066-3C>T r.spl? p.? Unknown - benign g.94794620C>T g.93782392C>T TMEM67(NM_153704.5):c.1066-3C>T - TMEM67_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1073C>T r.(?) p.(Pro358Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1078A>G r.(?) p.(Thr360Ala) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1115C>A r.(?) p.(Thr372Lys) Parent #2 - likely pathogenic g.94794672C>A g.93782444C>A - - TMEM67_000043 - - - - Unknown ? - - 0 - DNA SEQ-NG-S blood - JBTS-1 - - - - - - - - 0 - - 1 Sanne Savelberg
+/+ 12 c.1127A>C r.(1127a>c) p.(Gln376Pro) Both (homozygous) - 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 - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1145T>G r.(?) p.(Ile382Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1289A>G r.(1289_1412del) p.(Asp430Serfs*9) Maternal (confirmed) - 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 - - - 0 - DNA SEQ-NG - - RHYNS FamPatII1 PubMed: Di Rocco 1997, PubMed: Brancati 2018, Journal: Brancati 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Italy - - 0 - - 1 Francesco Brancati
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