Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516264
rs1057516264
TPP1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		TC 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516945
rs1057516945
TPP1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518843
rs1057518843
GALC
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519437
rs1057519437
EBF3
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519463
rs1057519463
HEXA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		G 0.700 CausalMutation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

2014
dbSNP: rs1057519464
rs1057519464
HEXA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		G 0.700 CausalMutation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

2014
dbSNP: rs1057519465
rs1057519465
HEXA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519466
rs1057519466
HEXA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519467
rs1057519467
HEXA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 CausalMutation CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944

2012
dbSNP: rs1057519468
rs1057519468
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: rs1057519565
rs1057519565
DEAF1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1057521737
rs1057521737
EP300
CUI: C1836830
Disease: Developmental regression
Developmental regression 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057524157
rs1057524157
DEAF1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017
dbSNP: rs1057524157
rs1057524157
DEAF1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1057524820
rs1057524820
SCN8A
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499679
rs1060499679
GNPTAB
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs112543062
rs112543062
GNPTAB
CUI: C1836830
Disease: Developmental regression
Developmental regression 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs113994063
rs113994063
EIF2B5
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121907966
rs121907966
HEXA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 CausalMutation CLINVAR Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. 1532289

1992
dbSNP: rs121907972
rs121907972
HEXA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 CausalMutation CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944

2012
dbSNP: rs121907978
rs121907978
HEXA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs121908681
rs121908681
PLA2G6
CUI: C1836830
Disease: Developmental regression
Developmental regression 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1224421127
rs1224421127
NDUFAF6
CUI: C1836830
Disease: Developmental regression
Developmental regression 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1247665387
rs1247665387
FA2H
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1380822792
rs1380822792
NAA15
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 CausalMutation CLINVAR