Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123425
rs398123425
ATRX
C 0.700 CausalMutation CLINVAR

dbSNP: rs587776917
rs587776917
ECEL1
GT 0.700 CausalMutation CLINVAR

dbSNP: rs587784000
rs587784000
NIPBL
C 0.700 GeneticVariation CLINVAR

dbSNP: rs61752717
rs61752717
MEFV
C 0.700 CausalMutation CLINVAR

dbSNP: rs764926983
rs764926983
DYNC2H1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs767846762
rs767846762
DYNC2H1
G 0.700 CausalMutation CLINVAR

dbSNP: rs771148519
rs771148519
WDR19
G 0.700 CausalMutation CLINVAR

dbSNP: rs775769424
rs775769424
BBS1 ; ZDHHC24
C 0.700 CausalMutation CLINVAR

dbSNP: rs776587763
rs776587763
FGFR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs863225094
rs863225094
PPP2R1A
A 0.700 CausalMutation CLINVAR

dbSNP: rs886039795
rs886039795
TMEM256 ; TMEM256-PLSCR3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs886039813
rs886039813
OFD1
G 0.700 CausalMutation CLINVAR

dbSNP: rs886040971
rs886040971
TRPS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs4647924
rs4647924
FGFR3
0.710 GeneticVariation BEFREE We compare the clinical characteristics of previously reported cases of this unique Pro250Arg mutation with those of two additional families and suggest that this syndrome with a unique mutational basis be designated coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene, to emphasize the distinctive findings which may be present even in the absence of coronal craniosynostosis. 9600744

1998
dbSNP: rs267607016
rs267607016
ROR2
0.010 GeneticVariation BEFREE We here report a novel nonsense mutation in ROR2 (c.1324C>T; p.R441X) causing intracellular protein truncation in a patient exhibiting features of RRS in conjunction with severe recessive brachydactyly. 19640924

2009
dbSNP: rs77096466
rs77096466
GNAS
0.010 GeneticVariation BEFREE Here, we describe a young female with a bilateral Madelung deformity, mild cognitive disability, some dysmorphic facial features, and a type E-like brachydactyly, in whom we identified a novel and de novo mutation (c.476T>C; p.Val159Ala) in exon 6 of the GNAS gene. 21910239

2011
dbSNP: rs199566527
rs199566527
NOG
0.010 GeneticVariation BEFREE We conclude that p.G92E represents a rare polymorphism of the NOGGIN gene-- causing neither brachydactyly nor fibrodysplasia ossificans progressiva. 22529972

2012
dbSNP: rs140047318
rs140047318
BMPR1B
0.010 GeneticVariation BEFREE In this article we report a family of Polish extraction with a novel mutation: c.1457G>T (R486L) which segregated with a complex brachydactyly. 25776145

2015
dbSNP: rs1567499068
rs1567499068
SCAPER
A 0.700 CausalMutation CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319

2019