A total 4 pathogenic variants reported in gene transmembrane protein 218 (TMEM218)

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys)	SNV Germline	Chr11:125097716	Pathogenic/Likely pathogenic	Joubert syndrome Meckel syndrome, type 4 Joubert syndrome 39 Retinal disorder	Criteria Provided Multiple Submitters No Conflicts	CA6347295	rs_141744337	4 SubmittersRCV001263490 RCV001263493 RCV001729826 RCV006742032
NM_001258244.2(TMEM218):c.175C>T (p.Arg59Ter)	SNV Germline	Chr11:125101239	Pathogenic	Meckel syndrome, type 4	No Assertion Criteria Provided	CA6347326	rs_758805438	1 SubmittersRCV001263492
NM_001258244.2(TMEM218):c.26G>T (p.Gly9Val)	SNV Germline	Chr11:125102216	Pathogenic	Joubert syndrome 39 Joubert syndrome	No Assertion Criteria Provided	CA383169836	rs_1950967763	2 SubmittersRCV001729827 RCV001263491
NM_001258244.2(TMEM218):c.111G>T (p.Arg37Ser)	SNV Unknown	Chr11:125101303	Likely pathogenic	Joubert syndrome 39	Criteria Provided Single Submitter	CA383169384	rs_1248550491	1 SubmittersRCV002223152