Full data view for gene TMEM216

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

211 entries on 3 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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.*558G>A r.(?) p.? Unknown - pathogenic g.61166306G>A - c.*558G >A - TMEM216_000020 - PubMed: M'hamdi 2014 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: M'hamdi_2014 - M yes Tunisia Tunisian - - - - 1 LOVD
?/. - c.*558G>A r.(?) p.? Unknown - VUS g.61166306G>A - TMEM216: c.*558G>A - TMEM216_000020 - PubMed: M'hamdi-2014 - - Germline - - - - - DNA SEQ - targeted exon capture strategy retinal disease - PubMed: M'hamdi-2014 - M yes Tunisia Tunisian - - - - 1 LOVD
+/. - c.-272_228{0} r.0? p.0? Parent #2 - pathogenic (recessive) g.61150363_61161447del g.61382891_61393975del c.-9741_228del, hg38 g.61,382,891-61,393,975del - TMEM216_000027 - PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamM2PatA PubMed: Malka 2024 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Zimbabwe Africa;black - - - - 2 Johan den Dunnen
+/. - c.-272_228{0} r.0? p.0? Parent #2 - pathogenic (recessive) g.61150363_61161447del g.61382891_61393975del c.-9741_228del, hg38 g.61,382,891-61,393,975del - TMEM216_000027 - PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamM2PatB PubMed: Malka 2024 brother M no Zimbabwe Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>A r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>A g.61392563G>A - - TMEM216_000025 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamA1PatA PubMed: Malka 2024 2-generation family, 2 affected, unaffected parents M yes Pakistan - - - - - 2 Johan den Dunnen
+/. _1 c.-69G>A r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>A g.61392563G>A - - TMEM216_000025 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamA1PatB PubMed: Malka 2024 relative M yes Pakistan - - - - - 1 Johan den Dunnen
+/. _1 c.-69G>A r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>A g.61392563G>A - - TMEM216_000025 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamA2Pat PubMed: Malka 2024 - M yes Bangladesh - - - - - 1 Johan den Dunnen
+/. _1 c.-69G>A r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>A g.61392563G>A - - TMEM216_000025 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamA3Pat PubMed: Malka 2024 - F yes Pakistan - - - - - 1 Johan den Dunnen
+/. _1 c.-69G>A r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>A g.61392563G>A - - TMEM216_000025 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamA4PatA PubMed: Malka 2024 4-generation family, 8 affected (8M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 8 Johan den Dunnen
+/. _1 c.-69G>A r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>A g.61392563G>A - - TMEM216_000025 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamA4PatB PubMed: Malka 2024 relative M yes Pakistan - - - - - 1 Johan den Dunnen
+/. _1 c.-69G>A r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>A g.61392563G>A - - TMEM216_000025 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamA4PatC PubMed: Malka 2024 relative M yes Pakistan - - - - - 1 Johan den Dunnen
+/. _1 c.-69G>A r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>A g.61392563G>A - - TMEM216_000025 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamA4PatD PubMed: Malka 2024 relative M yes Pakistan - - - - - 1 Johan den Dunnen
+/. _1 c.-69G>A r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>A g.61392563G>A - - TMEM216_000025 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamA5PatA PubMed: Malka 2024 6-generation family,7 affected (F, 6M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 7 Johan den Dunnen
+/. _1 c.-69G>A r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>A g.61392563G>A - - TMEM216_000025 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamA5PatB PubMed: Malka 2024 relative M yes Pakistan - - - - - 1 Johan den Dunnen
+/. _1 c.-69G>A r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>A g.61392563G>A - - TMEM216_000025 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamA5PatC PubMed: Malka 2024 relative M yes Pakistan - - - - - 1 Johan den Dunnen
+/. _1 c.-69G>A r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>A g.61392563G>A - - TMEM216_000025 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamA5PatD PubMed: Malka 2024 relative M yes Pakistan - - - - - 1 Johan den Dunnen
+/. _1 c.-69G>A r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>A g.61392563G>A - - TMEM216_000025 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamA5PatE PubMed: Malka 2024 relative F yes Pakistan - - - - - 1 Johan den Dunnen
+/. _1 c.-69G>A r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>A g.61392563G>A - - TMEM216_000025 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamA6Pat PubMed: Malka 2024 4-generation family, 4 affected (4M), unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - 4 Johan den Dunnen
+/. _1 c.-69G>A r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>A g.61392563G>A - - TMEM216_000025 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamA7Pat PubMed: Malka 2024 3-generation family, 11 affected (5F, 6M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 11 Johan den Dunnen
+/. _1 c.-69G>A r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>A g.61392563G>A - - TMEM216_000025 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamA8Pat PubMed: Malka 2024 4-generation family, 3 affected (2F, M), unaffected parents F yes Pakistan - - - - - 3 Johan den Dunnen
+/. _1 c.-69G>A r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>A g.61392563G>A - - TMEM216_000025 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamA9Pat PubMed: Malka 2024 4-generation family, 3 affected (F, 2M), unaffected parents M yes Pakistan - - - - - 3 Johan den Dunnen
+/. _1 c.-69G>A r.=|red p.=|red Unknown - NA g.61160035G>A g.61392563G>A - - TMEM216_000025 luciferase reporter gene assay shows reduced promotor activity PubMed: Malka 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT1Pat PubMed: Malka 2024 - M no Nigeria Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT2PatA PubMed: Malka 2024 2-generation family, 2 affected sister, unaffected parents F no Nigeria Africa;black - - - - 2 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT2PatB PubMed: Malka 2024 sister F no Nigeria Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT3Pat PubMed: Malka 2024 - M no Nigeria Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT4Pat PubMed: Malka 2024 - F no Barbados Caribbean;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT5Pat PubMed: Malka 2024 - M no - Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT6Pat PubMed: Malka 2024 - F no Zimbabwe Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT7PatA PubMed: Malka 2024 2-generation family, 2 affected brother, unaffected parents F no Nigeria Africa;black - - - - 2 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT7PatB PubMed: Malka 2024 relative M no Nigeria Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT8Pat PubMed: Malka 2024 - F no Jamaica Africa;black;Caribbean;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT9PatA PubMed: Malka 2024 2-generation family, 2 affected brother, unaffected parents M no Jamaica;Barbados Caribbean;black - - - - 2 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT9PatB PubMed: Malka 2024 relative M no Jamaica;Barbados Caribbean;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT10Pat PubMed: Malka 2024 - F no - Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP Fam11Pat PubMed: Malka 2024 - F no - Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT12Pat PubMed: Malka 2024 - F no Zimbabwe Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT13Pat PubMed: Malka 2024 - F no Nigeria Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT14Pat PubMed: Malka 2024 - F no Nigeria Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT15PatA PubMed: Malka 2024 2-generation family, 2 affected brother, unaffected parents F - - Africa;black - - - - 2 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT15PatB PubMed: Malka 2024 relative F - - Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT16Pat PubMed: Malka 2024 - M - - Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT17Pat PubMed: Malka 2024 - F - - black;Caribbean - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT18Pat PubMed: Malka 2024 - M - - Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT19Pat PubMed: Malka 2024 - F - - Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT20Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents M no Nigeria Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT21Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents F no Nigeria Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT22Pat PubMed: Malka 2024 2-generation family, affected brother/sister, unaffected parents M yes - Africa;black - - - - 2 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT23Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents F no Haiti Caribbean;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT24Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Angola Africa - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT25Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents F no United States African American - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT26Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents F no United States African American - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT27Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents F no - black;Caribbean - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT28Pat PubMed: Malka 2024 2-generation family, 2 affected, unaffected parents M no - black;Caribbean - - - - 2 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT29Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents F no United States African American - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT30Pat PubMed: Malka 2024 2-generation family, 2 affected, unaffected parents M no United States African American - - - - 2 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT31Pat PubMed: Malka 2024 2-generation family, 2 affected sisters, unaffected parents F no Jamaica Caribbean;black - - - - 2 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT32Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents F no United States African American - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT33Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents F no Algeria Africa - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT34Pat PubMed: Malka 2024 - M no - Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT35Pat PubMed: Malka 2024 - F no - black;Caribbean - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT36Pat PubMed: Malka 2024 - M no - black;Caribbean - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT37Pat PubMed: Malka 2024 - F no Ghana Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Both (homozygous) - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamT38Pat PubMed: Malka 2024 - F - - Africa - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Parent #1 - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamM1Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents F no - black;Caribbean - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Parent #1 - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamM2PatA PubMed: Malka 2024 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Zimbabwe Africa;black - - - - 2 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Parent #1 - pathogenic (recessive) g.61160035G>T g.61392563G>T - - TMEM216_000026 variant has reduced promotor activity PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamM2PatB PubMed: Malka 2024 brother M no Zimbabwe Africa;black - - - - 1 Johan den Dunnen
+/. _1 c.-69G>T r.=|red p.=|red Unknown - NA g.61160035G>T g.61392563G>T - - TMEM216_000026 luciferase reporter gene assay showed reduced promotor activity PubMed: Malka 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5T>C r.(?) p.(Leu2Pro) Unknown - likely benign g.61160108T>C g.61392636T>C TMEM216(NM_001173990.2):c.5T>C (p.(Leu2Pro)) - TMEM216_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.35-17C>T r.(=) p.(=) Unknown - benign g.61160686C>T g.61393214C>T TMEM216(NM_001173990.3):c.35-17C>T, TMEM216(NM_001173991.2):c.35-17C>T - TMEM216_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.35-17C>T r.(=) p.(=) Unknown - benign g.61160686C>T - TMEM216(NM_001173990.3):c.35-17C>T, TMEM216(NM_001173991.2):c.35-17C>T - TMEM216_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.35-2A>G r.spl? p.? Unknown - pathogenic g.61160701A>G - TMEM216(NM_001173991.2):c.35-2A>G - TMEM216_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.35-2A>G r.spl p.? Parent #2 - pathogenic (recessive) g.61160701A>G g.61393229A>G - - TMEM216_000012 - PubMed: Malka 2024 - - Germline - - - - - DNA SEQ - - RP FamM1Pat PubMed: Malka 2024 2-generation family, 1 affected, unaffected parents F no - black;Caribbean - - - - 1 Johan den Dunnen
-?/. - c.140T>C r.(?) p.(Val47Ala) Unknown - likely benign g.61161359T>C - TMEM216(NM_001173990.2):c.140T>C (p.(Val47Ala)), TMEM216(NM_001173990.3):c.140T>C (p.V47A) - TMEM216_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140T>C r.(?) p.(Val47Ala) Unknown - likely benign g.61161359T>C - TMEM216(NM_001173990.2):c.140T>C (p.(Val47Ala)), TMEM216(NM_001173990.3):c.140T>C (p.V47A) - TMEM216_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.211G>T r.(?) p.(Val71Leu) Unknown - VUS g.61161430G>T - TMEM216(NM_001173990.3):c.211G>T (p.V71L), TMEM216(NM_001330285.1):c.28G>T (p.V10L) - TMEM216_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.211G>T r.(?) p.(Val71Leu) Unknown - likely benign g.61161430G>T - TMEM216(NM_001173990.3):c.211G>T (p.V71L), TMEM216(NM_001330285.1):c.28G>T (p.V10L) - TMEM216_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.216T>C r.(=) p.(=) Both (homozygous) - likely pathogenic g.61161435T>C g.61393963T>C NM_001173990.2:c.216T>C - TMEM216_000019 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW319-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.217C>T r.(?) p.(Arg73Cys) Paternal (inferred) - pathogenic g.61161436C>T g.61393964C>T C217T, R73C - TMEM216_000003 - PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - ? - - New Zealander - - - - 1 LOVD
+/. - c.217C>T r.(?) p.(Arg73Cys) Maternal (inferred) - pathogenic g.61161436C>T g.61393964C>T C217T, R73C - TMEM216_000003 - PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - - ? - - New Zealander - - - - 1 LOVD
+/. - c.217C>T r.(?) p.(Arg73Cys) Parent #2 - pathogenic g.61161436C>T g.61393964C>T NM_001173990.2:c.217C>T - TMEM216_000003 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW066-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.218G>A r.(?) p.(Arg73His) Paternal (inferred) - pathogenic g.61161437G>A g.61393965G>A G218A, R73H - TMEM216_000002 - PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - MKS and JSRDs coexisted in the same sibship M - - Turkish - - - - 1 LOVD
+/. - c.218G>A r.(?) p.(Arg73His) Maternal (inferred) - pathogenic g.61161437G>A g.61393965G>A G218A, R73H - TMEM216_000002 - PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - JBTS - - MKS and JSRDs coexisted in the same sibship M - - Turkish - - - - 1 LOVD
+/. - c.218G>A r.(?) p.(Arg73His) Paternal (inferred) - pathogenic g.61161437G>A g.61393965G>A G218A, R73H - TMEM216_000002 - PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - MKS2 - - Fetus, MKS and JSRDs coexisted in the same sibship M - - Turkish - - - - 1 LOVD
+/. - c.218G>A r.(?) p.(Arg73His) Maternal (inferred) - pathogenic g.61161437G>A g.61393965G>A G218A, R73H - TMEM216_000002 - PubMed: Valente 2010 - - Unknown - - - - - DNA MCA - - MKS2 - - Fetus, MKS and JSRDs coexisted in the same sibship M - - Turkish - - - - 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 - - - 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
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