Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: rs4647924
rs4647924
FGFR3
G 0.710 CausalMutation CLINVAR

dbSNP: rs1014959895
rs1014959895
PRMT7
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894396
rs104894396
GJB2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518907
rs1057518907
GNAS
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518972
rs1057518972
TRPS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519324
rs1057519324
NPR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057520063
rs1057520063
GLI3
CA 0.700 CausalMutation CLINVAR

dbSNP: rs1251713297
rs1251713297
PRMT7
A 0.700 CausalMutation CLINVAR

dbSNP: rs137853027
rs137853027
DYNC2H1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs137854539
rs137854539
GNAS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1400419650
rs1400419650
TRIP11
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553154130
rs1553154130
RERE
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554888939
rs1554888939
EHMT1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555154946
rs1555154946
ARID2 ; LOC105369745
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555386022
rs1555386022
TRIP11
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555528356
rs1555528356
ANKRD11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1556165162
rs1556165162
HDAC8
T 0.700 CausalMutation CLINVAR

dbSNP: rs1565311145
rs1565311145
DYNC2H1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1565317399
rs1565317399
DYNC2H1
T 0.700 CausalMutation CLINVAR

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