Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1425998598
rs1425998598
BPTF
A 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
C 0.700 GeneticVariation CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072

2017
dbSNP: rs1555970404
rs1555970404
ZNF711
TA 0.700 GeneticVariation CLINVAR Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. 27993705

2017
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
C 0.700 GeneticVariation CLINVAR Clinical and molecular features of POLG-related mitochondrial disease. 23545419

2013
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
C 0.700 GeneticVariation CLINVAR Polymerase gamma 1 mutations: clinical correlations. 20220442

2010
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. 19206176

2009
dbSNP: rs1555970404
rs1555970404
ZNF711
TA 0.700 GeneticVariation CLINVAR A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476

2009
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR Severe neonatal manifestations of Costello syndrome. 18039947

2008
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 17054105

2007
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR Somatic mosaicism for an HRAS mutation causes Costello syndrome. 16969868

2006
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. 16372351

2006
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078

2006
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854

2006
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. 16881968

2006
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316

2005
dbSNP: rs1208636573
rs1208636573
MSTO1 ; LOC105371452
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554642022
rs1554642022
PUF60 ; SCRIB
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555575860
rs1555575860
COG4
T 0.700 CausalMutation CLINVAR

dbSNP: rs1560264452
rs1560264452
SOX2 ; SOX2-OT
C 0.700 CausalMutation CLINVAR

dbSNP: rs200635937
rs200635937
GPR161
T 0.700 GeneticVariation CLINVAR

dbSNP: rs622288
rs622288
MSTO1 ; LOC105371452
T 0.700 GeneticVariation CLINVAR

dbSNP: rs770374710
rs770374710
MAGEL2
TG 0.700 CausalMutation CLINVAR

dbSNP: rs886041116
rs886041116
ADNP
A 0.700 GeneticVariation CLINVAR

dbSNP: rs137853223
rs137853223
CSHL1 ; GH1 ; LOC112268204
0.020 GeneticVariation BEFREE Patients with classical IGHD phenotype carried a heterozygous variant in GH1: c.626G>A (p.R209H). 31835104

2020
dbSNP: rs121918117
rs121918117
GHRHR
0.020 GeneticVariation BEFREE Twenty one of the 23 FIGHD had homozygous GHRHR(E72X) mutation and four with IGHD had heterozygous GHRHR(E72X) mutation.IGF1 and IGFBP3 were low. 23436191

2013