Full data view for gene TMEM67

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

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Gender     

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Age at death     

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Owner     
+?/. 24 c.2498T>C r.(?) p.(Ile833Thr) Parent #2 - likely pathogenic g.94821126T>C g.93808898T>C - - TMEM67_000044 - PubMed: Kroes 2016 - rs267607119 Unknown ? - - - - DNA SEQ-NG-S blood - JBTS1 1-48 Pat20 PubMed: Kroes 2016 - - - - Europe-N - - - - 1 Sanne Savelberg
+?/. 24 c.2498T>C r.(?) p.(Ile833Thr) Parent #2 - likely pathogenic g.94821126T>C g.93808898T>C - - TMEM67_000044 - PubMed: Kroes 2016 - rs267607119 Unknown ? - - - - DNA SEQ-NG-S blood - JBTS1 1-49 Pat21 PubMed: Kroes 2016 - - - - Europe-N - - - - 1 Sanne Savelberg
+?/. 24 c.2498T>C r.(?) p.(Ile833Thr) Parent #2 - likely pathogenic g.94821126T>C g.93808898T>C - - TMEM67_000044 - PubMed: Kroes 2016 - rs267607119 Unknown ? - - - - DNA SEQ-NG-S blood - JBTS1 2-66 Pat22 PubMed: Kroes 2016 - - - - Europe-N - - - - 1 Sanne Savelberg
+/. - c.2498T>C r.(?) p.(Ile833Thr) Unknown - pathogenic g.94821126T>C g.93808898T>C TMEM67(NM_001142301.1):c.2255T>C (p.(Ile752Thr)), TMEM67(NM_153704.5):c.2498T>C (p.I833T), TMEM67(NM_153704.6):c.2498T>C (p.I833T) - TMEM67_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2498T>C r.(?) p.(Ile833Thr) Unknown - pathogenic g.94821126T>C g.93808898T>C TMEM67(NM_001142301.1):c.2255T>C (p.(Ile752Thr)), TMEM67(NM_153704.5):c.2498T>C (p.I833T), TMEM67(NM_153704.6):c.2498T>C (p.I833T) - TMEM67_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2498T>C r.(?) p.(Ile833Thr) Unknown - pathogenic g.94821126T>C g.93808898T>C TMEM67(NM_001142301.1):c.2255T>C (p.(Ile752Thr)), TMEM67(NM_153704.5):c.2498T>C (p.I833T), TMEM67(NM_153704.6):c.2498T>C (p.I833T) - TMEM67_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2498T>C r.(?) p.(Ile833Thr) Parent #1 - pathogenic g.94821126T>C g.93808898T>C - - TMEM67_000044 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs267607119 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.2498T>C r.(?) p.(Ile833Thr) Unknown - pathogenic g.94821126T>C - TMEM67(NM_001142301.1):c.2255T>C (p.(Ile752Thr)), TMEM67(NM_153704.5):c.2498T>C (p.I833T), TMEM67(NM_153704.6):c.2498T>C (p.I833T) - TMEM67_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2498T>C r.(?) p.(Ile833Thr) Parent #1 - pathogenic g.94821126T>C g.93808898T>C NM_153704.5:c.2498T>C - TMEM67_000044 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW055-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.2498T>C r.(?) p.(Ile833Thr) Parent #1 - pathogenic g.94821126T>C g.93808898T>C NM_153704.5:c.2498T>C - TMEM67_000044 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW055-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.2498T>C r.(?) p.(Ile833Thr) Parent #1 - pathogenic g.94821126T>C g.93808898T>C NM_153704.5:c.2498T>C - TMEM67_000044 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW063-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.2498T>C r.(?) p.(Ile833Thr) Parent #2 - pathogenic g.94821126T>C g.93808898T>C NM_153704.5:c.2498T>C - TMEM67_000044 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW051-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.2498T>C r.(?) p.(Ile833Thr) Parent #2 - pathogenic g.94821126T>C g.93808898T>C NM_153704.5:c.2498T>C - TMEM67_000044 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW064-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.2498T>C r.(?) p.(Ile833Thr) Parent #2 - pathogenic g.94821126T>C g.93808898T>C NM_153704.5:c.2498T>C - TMEM67_000044 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW083-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.2498T>C r.(?) p.(Ile833Thr) Parent #2 - pathogenic g.94821126T>C g.93808898T>C NM_153704.5:c.2498T>C - TMEM67_000044 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW083-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
?/. - c.2498T>C r.(?) p.(Ile833Thr) Unknown - VUS g.94821126T>C g.93808898T>C - - TMEM67_000044 - PubMed: Kroes 2016 - - Germline - - - - - DNA SEQ-NG - 22-gene panel retinal disease 1-57 PubMed: Kroes 2016 - - - - Europe-N - - - - 1 LOVD
?/. - c.2498T>C r.(?) p.(Ile833Thr) Unknown - VUS g.94821126T>C g.93808898T>C - - TMEM67_000044 - PubMed: Kroes 2016 - - Germline - - - - - DNA SEQ-NG - 22-gene panel retinal disease 1-59 PubMed: Kroes 2016 - - - - Europe-N - - - - 1 LOVD
+?/. - c.2498T>C r.(?) p.(Ile833Thr) Unknown - likely pathogenic g.94821126T>C g.93808898T>C c. 2438 T>C; p.I833T - TMEM67_000044 Variant does not agree with the reference sequence. Ile833Thr actually results from 2498C>T, so 2438C>T was probably a typing mistake. PubMed: Brooks 2018 RCV001310635.1 - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 542 PubMed: Brooks 2018 family 12 F - United States - - - - - 1 LOVD
+?/. - c.2498T>C r.(?) p.(Ile833Thr) Unknown - likely pathogenic g.94821126T>C g.93808898T>C c.2498T>C; p.I833T - TMEM67_000044 - 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 303 PubMed: Brooks 2018 family 13 F - United States - - - - - 1 LOVD
+/. 24 c.2498T>C r.(?) p.(Ile833Thr) Unknown - pathogenic g.94821126T>C - C.2498T/C - TMEM67_000044 - PubMed: Otto 2011 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG-S Blood - retinal disease - PubMed: Otto 2011 heterozygous mutation identified in mother - - Germany - - - - - 1 LOVD
?/. - c.2498T>C r.(?) p.(Ile833Thr) Unknown - VUS g.94821126T>C - TMEM67(NM_001142301.1):c.2255T>C (p.(Ile752Thr)), TMEM67(NM_153704.5):c.2498T>C (p.I833T), TMEM67(NM_153704.6):c.2498T>C (p.I833T) - TMEM67_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 24 c.2498T>C r.(?) p.(Ile833Thr) Unknown - pathogenic g.94821126T>C - c.2498T>C - TMEM67_000044 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 303 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
+/. 24 c.2498T>C r.(?) p.(Ile833Thr) Unknown - pathogenic g.94821126T>C - c.2498T>C - TMEM67_000044 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 542 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
+?/. 24 c.2498T>C r.(?) p.(Ile833Thr) Paternal (confirmed) - likely pathogenic (recessive) g.94821126T>C g.93808898T>C - - TMEM67_000044 - PubMed: Iannicelli 2010 - - Germline - - - - - DNA SEQ - - JBTS COR266PatNG2515 PubMed: Iannicelli 2010 sib F - Germany - - - - - 1 Johan den Dunnen
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