Gene: TMCO1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs372701032
rs372701032
TMCO1
G 0.700 CausalMutation CLINVAR Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. 24424126

2014
dbSNP: rs786204789
rs786204789
TMCO1 ; TMCO1-AS1
A 0.700 CausalMutation CLINVAR TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia. 24194475

2014
dbSNP: rs786204789
rs786204789
TMCO1 ; TMCO1-AS1
A 0.700 CausalMutation CLINVAR Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. 24424126

2014
dbSNP: rs786204789
rs786204789
TMCO1 ; TMCO1-AS1
A 0.700 CausalMutation CLINVAR Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum. 23320496

2013
dbSNP: rs786204789
rs786204789
TMCO1 ; TMCO1-AS1
A 0.700 CausalMutation CLINVAR Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. 20018682

2010
dbSNP: rs201213306
rs201213306
TMCO1
A 0.700 CausalMutation CLINVAR

dbSNP: rs397518448
rs397518448
TMCO1 ; TMCO1-AS1
G 0.700 CausalMutation CLINVAR

dbSNP: rs752176040
rs752176040
TMCO1 ; TMCO1-AS1
A 0.700 CausalMutation CLINVAR