Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1563686762
rs1563686762
RAD21 ; UTP23
C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677

2019
dbSNP: rs1060499548
rs1060499548
ABL1
A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113

2017
dbSNP: rs1135401778
rs1135401778
BPTF
C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs1554333853
rs1554333853
CDK13
G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
dbSNP: rs1555639076
rs1555639076
BPTF
G 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs782736894
rs782736894
BPTF
G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs864309486
rs864309486
GMNN
T 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980

2015
dbSNP: rs864309487
rs864309487
GMNN
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980

2015
dbSNP: rs1057518345
rs1057518345
ADNP
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518914
rs1057518914
RPS6KA3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519381
rs1057519381
MED12
A 0.700 GeneticVariation CLINVAR

dbSNP: rs112550005
rs112550005
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1135402761
rs1135402761
SYT1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
G 0.700 CausalMutation CLINVAR

dbSNP: rs137854466
rs137854466
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1481733213
rs1481733213
ATR
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553370918
rs1553370918
MYCN
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553538917
rs1553538917
SATB2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553761113
rs1553761113
ATR
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
ZNF292
C 0.700 GeneticVariation CLINVAR