GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Yunis-Varon Syndrome(Cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia)      Explore Disorder's Alias
An Autosomal recessive mode(s) within the Bone disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 FIG4/9896 FIG4 phosphoinositide 5-phosphatase 6q21 Chr6, NC_000006.12
(109691296..109825426)
134131 nt 24 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 VAC14/55697 VAC14 component of PIKFYVE complex 16q22.1 Chr16, NC_000016.10
(70687439..70801158, complement)
113720 nt 21 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information    
Disorder Cross-References:      GARD          GTR          MalaCards          NORD     

Patient care services
Clinical Symptoms & Disabilities