Full data view for gene TMEM67

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

578 entries on 6 pages. Showing entries 1 - 100.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

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DNA change (genomic) (hg19)     

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ID_report     

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+/. 8 c.? r.(?) p.? Unknown - pathogenic g.94792827_94792830delAATG - c.755T/C - TMEM67_000173 - PubMed: Otto 2011 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG-S Blood - retinal disease - PubMed: Otto 2011 - - - Germany - - - - - 1 LOVD
+?/. - c.? r.(?) p.(Gly195ilefs*13) Both (homozygous) - likely pathogenic g.? - MKS3:p.Gly195ilefs*13 - RP1_000000 - PubMed: Knopp 2015 - - Germline - - - - - DNA arraySNP, SEQ-NG, PCR blood - retinal disease - PubMed: Knopp 2015 - M yes - - - - - - 1 LOVD
+?/. - c.? r.(?) p.(Gln467*) Both (homozygous) - likely pathogenic g.? - MKS3:p.Gln467* - RP1_000000 - PubMed: Knopp 2015 - - Germline - - - - - DNA arraySNP, SEQ-NG, PCR blood - retinal disease - PubMed: Knopp 2015 - F yes - - - - - - 1 LOVD
?/. - c.17G>A r.(?) p.(Gly6Glu) Unknown - VUS g.94767159G>A - TMEM67(NM_153704.6):c.17G>A (p.(Gly6Glu)) - TMEM67_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.25G>A r.(?) p.(Val9Met) Unknown - likely benign g.94767167G>A g.93754939G>A TMEM67(NM_153704.5):c.25G>A (p.V9M, p.(Val9Met)) - TMEM67_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.25G>A r.(?) p.(Val9Met) Unknown - likely benign g.94767167G>A g.93754939G>A TMEM67(NM_153704.5):c.25G>A (p.V9M, p.(Val9Met)) - TMEM67_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.25G>A r.(?) p.(Val9Met) Parent #1 - pathogenic (recessive) g.94767167G>A g.93754939G>A - - TMEM67_000051 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-314-749 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
?/. - c.29C>T r.(?) p.(Ala10Val) Unknown - VUS g.94767171C>T g.93754943C>T - - TMEM67_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.37G>A r.(?) p.(Val13Ile) Unknown - VUS g.94767179G>A g.93754951G>A TMEM67(NM_153704.6):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 - PubMed: Kroes 2016 - - Unknown ? - - - - DNA SEQ-NG-S blood - JBTS1 2-66 Pat22 PubMed: Kroes 2016 - - - - Europe-N - - - - 1 Sanne Savelberg
-?/. - c.48C>G r.(?) p.(Leu16=) Unknown - likely benign g.94767190C>G - TMEM67(NM_153704.6):c.48C>G (p.L16=) - TMEM67_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.66G>A r.(?) p.(Val22=) Unknown - likely benign g.94767208G>A g.93754980G>A TMEM67(NM_153704.6):c.66G>A (p.V22=) - TMEM67_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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(NM_153704.6):c.120T>C (p.S40=) - TMEM67_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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(NM_153704.6):c.120T>C (p.S40=) - TMEM67_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.123C>A r.(?) p.(Phe41Leu) Unknown - VUS g.94767265C>A - TMEM67(NM_153704.5):c.123C>A (p.F41L) - TMEM67_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.124C>G r.(?) p.(Pro42Ala) Unknown - VUS g.94767266C>G g.93755038C>G TMEM67(NM_153704.6):c.124C>G (p.P42A, p.(Pro42Ala)) - TMEM67_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.124C>G r.(?) p.(Pro42Ala) Unknown - VUS g.94767266C>G - TMEM67(NM_153704.6):c.124C>G (p.P42A, p.(Pro42Ala)) - TMEM67_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.125_130dup r.(?) p.(Pro42_Phe43dup) Unknown - VUS g.94767267_94767272dup - TMEM67(NM_153704.6):c.125_130dup (p.(Pro42_Phe43dup)) - TMEM67_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.154_156del r.(?) p.(Asn52del) Parent #1 - VUS g.94767296_94767298del g.93755068_93755070del 149_151del - TMEM67_000251 - PubMed: Boissel 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? CONGE-001 PubMed: Boissel 2017 analysis 101 stillborn fetuses with severe prenatal anoalies - - Canada - 0d - - - 1 Johan den Dunnen
+?/. 1b c.161A>G r.(161a>g) p.(Tyr54Cys) Unknown - likely pathogenic (recessive) g.94767303A>G g.93755075A>G - - TMEM67_000002 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.161A>G r.(?) p.(Tyr54Cys) Parent #1 - pathogenic (recessive) g.94767303A>G g.93755075A>G - - TMEM67_000002 - PubMed: Tallila 2008 - - Germline - - - - - DNA SEQ - - MKS UM2 PubMed: Tallila 2008 - - - - Europe - - - - 1 Johan den Dunnen
-/. - c.184T>C r.(?) p.(Cys62Arg) Unknown - benign g.94767326T>C g.93755098T>C C62C - TMEM67_000224 - PubMed: Khaddour 2007 - - Germline - 2/200 - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Khaddour 2007 - - - Pakistan - - - - - 2 Johan den Dunnen
-?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.224-3del r.spl? p.? Unknown - likely benign g.94768003del - TMEM67(NM_153704.5):c.224-3del (p.?) - TMEM67_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.224-2A>T r.(?) p.(?) Unknown - likely pathogenic g.94768004A>T g.93755776A>T c.224-2A>T - TMEM67_000172 - 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 238 PubMed: Brooks 2018 family 10 M - United States - - - - - 1 LOVD
+/. 1i c.224-2A>T r.spl? p.? Unknown - pathogenic g.94768004A>T - c.224-2A>T - TMEM67_000172 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 238 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
+/. 1i c.224-2del r.224_312del p.Gly75Glufs*15 Unknown - pathogenic (recessive) g.94768004del g.93755776del IVS1-2delA - TMEM67_000003 RNA skips exon 2 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.224-2del r.224_312del p.Gly75GlufsTer15 Maternal (confirmed) - pathogenic (recessive) g.94768004del g.93755776del IVS1-2delA - TMEM67_000003 - PubMed: Consugar 2007 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MKS M376 PubMed: Consugar 2007 family, 1 affected fetus - - United States Germany;Poland <0d - - - 1 Johan den Dunnen
+/. - c.233G>A r.(?) p.(Cys78Tyr) Parent #1 - pathogenic g.94768015G>A g.93755787G>A TMEM67 c.233G>A, p.(Cys78Tyr) - TMEM67_000217 heterozygous PubMed: Barabino 2020 - - In vitro (cloned) ? - - - - DNA, RNA SEQ-NG, SEQ induced pluripotent stem cells iPSCs generated from skin fibroblasts - induced pluripotent stem cell-derived retinal sheets BBS MKS01 PubMed: Barabino 2020 an experiment involving cell line derived from patient - - - - - - - - 1 LOVD
+?/. - c.233G>A r.(?) p.(Cys78Tyr) Parent #1 - likely pathogenic (recessive) g.94768015G>A g.93755787G>A - - TMEM67_000217 - PubMed: Boissel 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? CONGE-030 PubMed: Boissel 2017 analysis 101 stillborn fetuses with severe prenatal anoalies - - Canada - 0d - - - 1 Johan den Dunnen
+/. - c.244C>T r.(?) p.(Pro82Ser) Parent #1 - pathogenic g.94768026C>T g.93755798C>T NM_153704.5:c.244C>T - TMEM67_000150 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW086-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+?/. - c.244C>T r.(?) p.(Pro82Ser) Unknown ACMG likely pathogenic g.94768026C>T g.93755798C>T - - TMEM67_000150 - Kim 2023 submitted ClinVar-217715 - Germline/De novo (untested) - - - - - DNA SEQ-NG Blood sample WGS JBTS6 20873497 Kim 2023 submitted - M ? Korea, South (Republic) Asian >28y - - - 1 Hyeongmin Kim
+/. - c.245C>G r.(?) p.(Pro82Arg) Parent #1 - pathogenic g.94768027C>G g.93755799C>G NM_153704.5:c.245C>G - TMEM67_000151 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW085-1 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.245C>G r.(?) p.(Pro82Arg) Parent #1 - pathogenic g.94768027C>G g.93755799C>G NM_153704.5:c.245C>G - TMEM67_000151 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW085-2 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.245C>G r.(?) p.(Pro82Arg) Parent #1 - pathogenic g.94768027C>G g.93755799C>G NM_153704.5:c.245C>G - TMEM67_000151 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW085-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+?/. - c.245C>G r.(?) p.(Pro82Arg) Unknown - likely pathogenic g.94768027C>G g.93755799C>G c.245C>G; p.P82R - TMEM67_000151 - 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 562 PubMed: Brooks 2018 family 16 M - United States - - - - - 1 LOVD
+?/. - c.245C>G r.(?) p.(Pro82Arg) Unknown - likely pathogenic g.94768027C>G g.93755799C>G c.245C>G; p.P82R - TMEM67_000151 - 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 561 PubMed: Brooks 2018 family 16 M - United States - - - - - 1 LOVD
+?/. - c.245C>G r.(?) p.(Pro82Arg) Unknown - likely pathogenic g.94768027C>G g.93755799C>G c.245C>G; p.P82R - TMEM67_000151 - 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 560 PubMed: Brooks 2018 family 16 M - United States - - - - - 1 LOVD
+/. 2 c.245C>G r.(?) p.(Pro82Arg) Unknown - pathogenic g.94768027C>G - c.245C>G - TMEM67_000151 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 560 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
+/. 2 c.245C>G r.(?) p.(Pro82Arg) Unknown - pathogenic g.94768027C>G - c.245C>G - TMEM67_000151 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 561 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
+/. 2 c.245C>G r.(?) p.(Pro82Arg) Unknown - pathogenic g.94768027C>G - c.245C>G - TMEM67_000151 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 562 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
+?/. 2 c.270T>G r.(?) p.(Asn90Lys) Maternal (confirmed) - likely pathogenic (recessive) g.94768052T>G g.93755824T>G - - TMEM67_000225 - PubMed: Iannicelli 2010 - - Germline - - - - - DNA SEQ - - JBTS COR265PatNG2511 PubMed: Iannicelli 2010 family, 2 affected sibs M - Italy - - - - - 2 Johan den Dunnen
?/. - c.274G>A r.(?) p.(Gly92Arg) Both (homozygous) - VUS g.94768056G>A g.93755828G>A - - TMEM67_000132 - PubMed: Riazuddin 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID PKMR151 PubMed: Riazuddin 2017 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.274G>A r.(?) p.(Gly92Arg) Unknown - pathogenic g.94768056G>A g.93755828G>A NPHP11 c. 274G>A, p.Gly92Arg - TMEM67_000132 heterozygous PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease J-55 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
+/. - c.274G>A r.(?) p.(Gly92Arg) Unknown - pathogenic g.94768056G>A g.93755828G>A NPHP11 c.274G>A, p.Gly92Arg p. - TMEM67_000132 heterozygous PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease J-63 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
+?/. - c.297G>T r.(?) p.(Lys99Asn) Parent #2 - likely pathogenic g.94768079G>T g.93755851G>T NM_153704.5:c.297G>T - TMEM67_000152 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW058-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+?/. - c.297G>T r.(?) p.(Lys99Asn) Unknown - likely pathogenic g.94768079G>T g.93755851G>T c.297G>T - TMEM67_000152 - 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 255 PubMed: Brooks 2018 family 11 M - United States - - - - - 1 LOVD
?/. - c.299G>A r.(?) p.(Cys100Tyr) Unknown - VUS g.94768081G>A - TMEM67(NM_153704.5):c.299G>A (p.C100Y) - TMEM67_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.300C>A r.(?) p.(Cys100*) Parent #1 - pathogenic g.94768082C>A g.93755854C>A NM_153704.5:c.300C>A - TMEM67_000153 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW064-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. 2 c.300C>A r.(?) p.(Cys100Ter) Maternal (confirmed) - pathogenic (recessive) g.94768082C>A g.93755854C>A - - TMEM67_000153 - PubMed: Iannicelli 2010 - - Germline - - - - - DNA SEQ - - JBTS COR266PatNG2515 PubMed: Iannicelli 2010 sib F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.312+2T>G r.spl? p.? Unknown - likely pathogenic g.94768096T>G g.93755868T>G TMEM67(NM_153704.6):c.312+2T>G - TMEM67_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.312+5G>A r.224_312del p.? Paternal (confirmed) - pathogenic g.94768099G>A g.93755871G>A - - TMEM67_000141 - PubMed: Suzuki 2016 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES JBTS Fam24 PubMed: Suzuki 2016 - - no Japan - - - - - 1 LOVD
?/. - c.312+10A>G r.(=) p.(=) Unknown - VUS g.94768104A>G - TMEM67(NM_153704.6):c.312+10A>G - TMEM67_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.312+18T>A r.(=) p.(=) Unknown - likely benign g.94768112T>A - TMEM67(NM_153704.5):c.312+18T>A - TMEM67_000213 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 - PubMed: Bui 2020, Journal: Bui 2020 - - Germline yes - - - - DNA SEQ-NG-I Blood sample, amniotic fluid WES JBTS1 patient PubMed: Bui 2020, Journal: Bui 2020 2 generation family, patient and fetus, unaffected heterozygous carrier parents M no Viet Nam;(Viet Nam) Asian - - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.329A>G r.328a>g p.Asp110Gly Parent #1 - pathogenic (recessive) g.94770727A>G g.93758499A>G - - TMEM67_000128 - PubMed: Tsurusaki 2013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES JBTS Fam3 PubMed: Tsurusaki 2013 2-generation family, 1 affected M - Japan - - - - - 1 Johan den Dunnen
+/. - c.329A>G r.(?) p.(Asp110Gly) Parent #1 - pathogenic g.94770727A>G g.93758499A>G - - TMEM67_000128 - PubMed: Suzuki 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES JBTS Fam3 PubMed: Suzuki 2016 - - no Japan - - - - - 1 LOVD
+?/. 3 c.329A>G r.(?) p.(Asp110Gly) Unknown - likely pathogenic g.94770727A>G - c.329A>G - TMEM67_000128 - PubMed: Enokizono 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 9 PubMed: Enokizono 2017 - M - Japan - - - - - 1 LOVD
-?/. - 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(NM_153704.6):c.369C>T (p.A123=) - TMEM67_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.369C>T r.(?) p.(Ala123=) Unknown - benign g.94770767C>T g.93758539C>T TMEM67(NM_153704.5):c.369C>T (p.A123=), TMEM67(NM_153704.6):c.369C>T (p.A123=) - TMEM67_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.370G>A r.(?) p.(Glu124Lys) Paternal (confirmed) - VUS g.94770768G>A g.93758540G>A - - TMEM67_000226 - PubMed: Iannicelli 2010 - - Germline - - - - - DNA SEQ - - JBTS COR47PatNG1604 PubMed: Iannicelli 2010 family, 2 affected sibs M - Italy - - - - - 2 Johan den Dunnen
?/. 3 c.370G>A r.(?) p.(Glu124Lys) Paternal (confirmed) - VUS g.94770768G>A g.93758540G>A - - TMEM67_000226 - PubMed: Iannicelli 2010 - - Germline - - - - - DNA SEQ - - JBTS COR47PatNG2001 PubMed: Iannicelli 2010 sib F - Italy - - - - - 1 Johan den Dunnen
+/. 3a c.383_384del r.(383_384del) p.(His128Leufs*13) Unknown - pathogenic (recessive) g.94770781_94770782del g.93758553_93758554del 383-384delAC - TMEM67_000004 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.383_384del r.(?) p.(His128Leufs*13) Both (homozygous) - pathogenic (recessive) g.94770781_94770782del g.93758553_93758554del 383-384delAC - TMEM67_000004 - PubMed: Smith 2006 - - Germline - - - - - DNA SEQ - - MKS Fam125PatIV1 PubMed: Smith 2006 4-generation family, 1 affected fetus, unaffected heterozygous parents/relatives - yes Oman - <00y00m00d - - - 1 Johan den Dunnen
+/. - c.385del r.(?) p.(Cys129Valfs*7) Unknown - pathogenic g.94770783del - - - TMEM67_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3a c.387T>A r.(387u>a) p.(Cys129*) Unknown - pathogenic (recessive) g.94770785T>A g.93758557T>A - - TMEM67_000037 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.387T>A r.(?) p.(Cys129Ter) Paternal (confirmed) - pathogenic (recessive) g.94770785T>A g.93758557T>A - - TMEM67_000037 - PubMed: Iannicelli 2010 - - Germline - - - - - DNA SEQ - - MKS COR238PatNG2357 PubMed: Iannicelli 2010 affected fetus - - Italy - <0d - - - 1 Johan den Dunnen
+/. - c.389C>G r.(?) p.(Pro130Arg) Parent #1 - pathogenic g.94770787C>G g.93758559C>G NM_153704.5:c.389C>G - TMEM67_000154 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW054-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.395G>C r.(?) p.(Gly132Ala) Maternal (confirmed) - pathogenic g.94770793G>C g.93758565G>C - - TMEM67_000142 - PubMed: Suzuki 2016 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES JBTS Fam24 PubMed: Suzuki 2016 - - no Japan - - - - - 1 LOVD
-?/. - 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+1301G>T r.(=) p.(=) Unknown - likely benign g.94772105G>T - TMEM67(NM_001142301.1):c.47G>T (p.R16L) - TMEM67_000214 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.406+1345dup r.(=) p.(=) Unknown - likely benign g.94772149dup g.93759921dup TMEM67(NM_001142301.1):c.91dup (p.(Tyr31Leufs*4)) - TMEM67_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 87 Mohammed Faruq
-?/. - c.406+1375G>T r.(=) p.(=) Unknown - likely benign g.94772179G>T - TMEM67(NM_001142301.1):c.121G>T (p.(Ala41Ser)) - TMEM67_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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_001142301.1):c.163+4A>G, TMEM67(NM_153704.6):c.406+1421A>G - TMEM67_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.406+1421A>G r.(=) p.(=) Unknown - VUS g.94772225A>G - TMEM67(NM_001142301.1):c.163+4A>G, TMEM67(NM_153704.6):c.406+1421A>G - TMEM67_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 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 - - - - - DNA SEQ-NG - - MKS1 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - - - - 1 Christopher Watson
+/. 4 c.415_416del r.(?) p.(Asp139Hisfs*2) Unknown - pathogenic g.94776078_94776079del - c.415_416del (p.Asp139Hisfs*2) - TMEM67_000047 - PubMed: Watson 2016 - - Germline - - - - - DNA SEQ-NG, PCR blood - retinal disease - PubMed: Watson 2016 - - - - - - - - - 1 LOVD
+/. 4 c.415_416del r.(?) p.(Asp139Hisfs*2) Unknown - pathogenic g.94776078_94776079del - c.415_416del (p.Asp139Hisfs*2) - TMEM67_000047 - PubMed: Watson 2016 - - Germline - - - - - DNA SEQ-NG, PCR blood - retinal disease - PubMed: Watson 2016 - - - - - - - - - 1 LOVD
-/. - c.429A>T r.(?) p.(Thr143=) Unknown - benign g.94776092A>T g.93763864A>T TMEM67(NM_153704.6):c.429A>T (p.T143=) - TMEM67_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.442G>T r.(?) p.(Ala148Ser) Maternal (confirmed) - pathogenic g.94776105G>T g.93763877G>T - - TMEM67_000143 - PubMed: Suzuki 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES JBTS Fam30 PubMed: Suzuki 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - 1 LOVD
+/. - c.475T>C r.(?) p.(Ser159Pro) Paternal (confirmed) - pathogenic g.94776138T>C g.93763910T>C - - TMEM67_000144 - PubMed: Suzuki 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES JBTS Fam27 PubMed: Suzuki 2016 - - no Japan - - - - - 1 LOVD
-/. - c.506+18G>T r.(?) p.(=) Unknown - benign g.94776187G>T g.93763959G>T - - TMEM67_000227 - PubMed: Khaddour 2007 - - Germline - 1/224 - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Khaddour 2007 - - - Senegal - - - - - 1 Johan den Dunnen
-/. - c.507-19T>C r.(?) p.(=) Unknown - benign g.94777615T>C g.93765387T>C - - TMEM67_000228 - PubMed: Khaddour 2007 - - Germline - 1/210 - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Khaddour 2007 - - - Lebanon - - - - - 1 Johan den Dunnen
?/. - 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 - - - - - DNA SEQ-NG - - MKS1 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - - - - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.514C>T r.(?) p.(Arg172*) Unknown - pathogenic g.94777641C>T - c.514C>T (p.Arg172*) - TMEM67_000049 - PubMed: Watson 2016 - - Germline - - - - - DNA SEQ-NG, PCR blood - retinal disease - PubMed: Watson 2016 Otto EA, 2009. Consugar MB, 2007. - - - - - - - - 1 LOVD
+/. - c.515G>A r.(?) p.(Arg172Gln) Unknown - pathogenic g.94777642G>A g.93765414G>A TMEM67(NM_153704.6):c.515G>A (p.(Arg172Gln)) - TMEM67_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.515G>A r.(?) p.(Arg172Gln) Parent #2 - pathogenic g.94777642G>A g.93765414G>A NM_153704.5:c.515G>A - TMEM67_000098 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW056-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
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