Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs897535441
rs897535441
ERCC8
CUI: C0456070
Disease: Growth delay
Growth delay 		T 0.700 CausalMutation CLINVAR

dbSNP: rs886040971
rs886040971
TRPS1
CUI: C0456070
Disease: Growth delay
Growth delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312824
rs869312824
GNB1
CUI: C0456070
Disease: Growth delay
Growth delay 		G 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs869312823
rs869312823
GNB1
CUI: C0456070
Disease: Growth delay
Growth delay 		C 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs869312697
rs869312697
ARID1B
CUI: C0456070
Disease: Growth delay
Growth delay 		T 0.700 CausalMutation CLINVAR

dbSNP: rs869025319
rs869025319
UNC80
CUI: C0456070
Disease: Growth delay
Growth delay 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs869025318
rs869025318
UNC80
CUI: C0456070
Disease: Growth delay
Growth delay 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs869025317
rs869025317
UNC80
CUI: C0456070
Disease: Growth delay
Growth delay 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs869025316
rs869025316
UNC80
CUI: C0456070
Disease: Growth delay
Growth delay 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs863223330
rs863223330
SIX1 ; MIR9718
CUI: C0456070
Disease: Growth delay
Growth delay 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs796051881
rs796051881
PEX5
CUI: C0456070
Disease: Growth delay
Growth delay 		CA 0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973

2015
dbSNP: rs780533096
rs780533096
MIPEP
CUI: C0456070
Disease: Growth delay
Growth delay 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs757744435
rs757744435
NPR2
CUI: C0456070
Disease: Growth delay
Growth delay 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs752746786
rs752746786
GNB1
CUI: C0456070
Disease: Growth delay
Growth delay 		G 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs752746786
rs752746786
GNB1
CUI: C0456070
Disease: Growth delay
Growth delay 		T 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs748379243
rs748379243
ERCC8
CUI: C0456070
Disease: Growth delay
Growth delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587779388
rs587779388
AP4B1 ; AP4B1-AS1
CUI: C0456070
Disease: Growth delay
Growth delay 		C 0.700 CausalMutation CLINVAR Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. 21620353

2011
dbSNP: rs587779388
rs587779388
AP4B1 ; AP4B1-AS1
CUI: C0456070
Disease: Growth delay
Growth delay 		C 0.700 CausalMutation CLINVAR A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. 21440262

2011
dbSNP: rs587779388
rs587779388
AP4B1 ; AP4B1-AS1
CUI: C0456070
Disease: Growth delay
Growth delay 		C 0.700 CausalMutation CLINVAR Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . 22290197

2012
dbSNP: rs550423482
rs550423482
PNPO
CUI: C0456070
Disease: Growth delay
Growth delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs372392424
rs372392424
PIGG
CUI: C0456070
Disease: Growth delay
Growth delay 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1569518070
rs1569518070
COL6A1
CUI: C0456070
Disease: Growth delay
Growth delay 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1557781252
rs1557781252
GATAD2B
CUI: C0456070
Disease: Growth delay
Growth delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1557036768
rs1557036768
HUWE1
CUI: C0456070
Disease: Growth delay
Growth delay 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C0456070
Disease: Growth delay
Growth delay 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016