Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200426926
rs200426926
THOC6 ; BICDL2
CUI: C3150939
Disease: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 		A 0.700 GeneticVariation CLINVAR Whole-exome sequencing identified three linked homozygous missense variants in THOC6 (c.298T>A, p.Trp100Arg; c.700G>C, p.Val234Leu; c.824G>A, p.Gly275Asp) as the likely cause of this child's intellectual disability syndrome, resulting in a molecular diagnosis of Beaulieu-Boycott-Innes syndrome (BBIS). 27295358

2016
dbSNP: rs200426926
rs200426926
THOC6 ; BICDL2
CUI: C3150939
Disease: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 		A 0.700 CausalMutation CLINVAR