Full data view for gene TMEM216

Information The variants shown are described using the NM_001173990.2 transcript reference sequence.

85 entries on 1 page. Showing entries 1 - 85.
Legend   How to query  

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.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T c.35G>T, R12L - TMEM216_000001 heterozygous in all of the parents in 12 of 20 siblings, 23 of 48 first-degree cousins, 58 of 449 more-remote relatives, and 30 of 2766 anonymous individuals of Ashkenazi Jewish origin, indicating a carrier rate of 1:92 for the R12L mutation in this ethnic group., Founder Mutation PubMed: Edvardson 2010 - - Unknown - - - - - DNA SEQ - - JBTS2 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - PubMed: Valente 2003 - M - - Italian - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - PubMed: Valente 2003 - M - - Italian - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - PubMed: Valente 2003 - F - - Italian - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - PubMed: Valente 2003 - F - - Italian - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - PubMed: Valente 2003 - F - - Italian - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - PubMed: Valente 2003 - F - - Italian - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - PubMed: Valente 2003 - M - - Italian - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - PubMed: Valente 2003 - M - - Italian - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - F - - Italian - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - F - - Italian - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - Fetus ? - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - Fetus ? - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - M - - Europe - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - M - - Europe - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - F - - Europe - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - F - - Europe - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - ? - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - Fetus ? - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - Fetus F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - Fetus ? - - Jewish-Ashkenazi - - - - 2 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - Fetus ? - - Jewish-Ashkenazi - - - - 2 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - cousin M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - cousin M - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Paternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Maternal (inferred) - pathogenic g.61161437G>T g.61393965G>T G218T, R73L - TMEM216_000001 Founder Mutation PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Both (homozygous) - pathogenic g.61161437G>T g.61393965G>T NM_001173990.2:c.218G>T - TMEM216_000001 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW040-5 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Both (homozygous) - pathogenic g.61161437G>T g.61393965G>T NM_001173990.2:c.218G>T - TMEM216_000001 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW189-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Both (homozygous) - pathogenic g.61161437G>T g.61393965G>T NM_001173990.2:c.218G>T - TMEM216_000001 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW192-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Both (homozygous) - pathogenic g.61161437G>T g.61393965G>T NM_001173990.2:c.218G>T - TMEM216_000001 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW193-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Both (homozygous) - pathogenic g.61161437G>T g.61393965G>T NM_001173990.2:c.218G>T - TMEM216_000001 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW198-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Both (homozygous) - pathogenic g.61161437G>T g.61393965G>T NM_001173990.2:c.218G>T - TMEM216_000001 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW223-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Both (homozygous) - pathogenic g.61161437G>T g.61393965G>T NM_001173990.2:c.218G>T - TMEM216_000001 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW224-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Both (homozygous) - pathogenic g.61161437G>T g.61393965G>T NM_001173990.2:c.218G>T - TMEM216_000001 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW233-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Both (homozygous) - pathogenic g.61161437G>T g.61393965G>T NM_001173990.2:c.218G>T - TMEM216_000001 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW233-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Both (homozygous) - pathogenic g.61161437G>T g.61393965G>T NM_001173990.2:c.218G>T - TMEM216_000001 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW234-11 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Both (homozygous) - pathogenic g.61161437G>T g.61393965G>T NM_001173990.2:c.218G>T - TMEM216_000001 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW234-17 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Both (homozygous) - pathogenic g.61161437G>T g.61393965G>T NM_001173990.2:c.218G>T - TMEM216_000001 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW234-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Both (homozygous) - pathogenic g.61161437G>T g.61393965G>T NM_001173990.2:c.218G>T - TMEM216_000001 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW234-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Both (homozygous) - pathogenic g.61161437G>T g.61393965G>T NM_001173990.2:c.218G>T - TMEM216_000001 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW234-5 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Parent #2 - pathogenic g.61161437G>T g.61393965G>T NM_001173990.2:c.218G>T - TMEM216_000001 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW251-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+?/. - c.218G>T r.(?) p.(Arg73Leu) Unknown - likely pathogenic g.61161437G>T g.61393965G>T c.218G>T; p.R73L - TMEM216_000001 different transcript: NM_001173991.2(TMEM216):c.218G>T 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 396 PubMed: Brooks 2018 family 68 F - United States - - - - - 1 LOVD
+?/. - c.218G>T r.(?) p.(Arg73Leu) Both (homozygous) - likely pathogenic g.61161437G>T g.61393965G>T c.218G>T; p.R73L - TMEM216_000001 different transcript: NM_001173991.2(TMEM216):c.218G>T 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 408 PubMed: Brooks 2018 family 69 M - United States - - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Unknown - pathogenic g.61161437G>T g.61393965G>T - - TMEM216_000001 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 396 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
+/. - c.218G>T r.(?) p.(Arg73Leu) Both (homozygous) - pathogenic g.61161437G>T g.61393965G>T - - TMEM216_000001 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 408 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.