Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853321
rs878853321
GBA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853250
rs878853250
SCN8A
CUI: C1836830
Disease: Developmental regression
Developmental regression 		C 0.700 CausalMutation CLINVAR

dbSNP: rs876660634
rs876660634
PTEN
CUI: C1836830
Disease: Developmental regression
Developmental regression 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869312878
rs869312878
AUTS2
CUI: C1836830
Disease: Developmental regression
Developmental regression 		AC 0.700 GeneticVariation CLINVAR

dbSNP: rs869312825
rs869312825
GNB1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		C 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs864309505
rs864309505
TPP1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs796052686
rs796052686
KCTD7
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs796052243
rs796052243
SPATA5
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs786204585
rs786204585
HEXA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 CausalMutation CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118

2014
dbSNP: rs773446161
rs773446161
HEXA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 CausalMutation CLINVAR Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. 9150157

1997
dbSNP: rs762374961
rs762374961
HEXA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 CausalMutation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

2014
dbSNP: rs754609693
rs754609693
ECHS1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs752914124
rs752914124
SGSH
CUI: C1836830
Disease: Developmental regression
Developmental regression 		C 0.700 CausalMutation CLINVAR

dbSNP: rs752746786
rs752746786
GNB1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		G 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs752298579
rs752298579
TANGO2
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs751486476
rs751486476
CLN6
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 CausalMutation CLINVAR

dbSNP: rs748787734
rs748787734
TUBB4A
CUI: C1836830
Disease: Developmental regression
Developmental regression 		C 0.700 GeneticVariation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942

2014
dbSNP: rs748190164
rs748190164
HEXA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 CausalMutation CLINVAR

dbSNP: rs727503786
rs727503786
ABCD1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 CausalMutation CLINVAR

dbSNP: rs727502818
rs727502818
KCNC1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 CausalMutation CLINVAR

dbSNP: rs61749715
rs61749715
MECP2
CUI: C1836830
Disease: Developmental regression
Developmental regression 		C 0.700 CausalMutation CLINVAR

dbSNP: rs61748421
rs61748421
MECP2
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587784347
rs587784347
PLA2G6
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs587777446
rs587777446
IFIH1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs555145190
rs555145190
NAGLU
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 CausalMutation CLINVAR