Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1034395178
rs1034395178
LZTR1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
dbSNP: rs1057516031
rs1057516031
MTM1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		T 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057516032
rs1057516032
ATP1A3
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		GA 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057516033
rs1057516033
KAT6B
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057516040
rs1057516040
NALCN
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		C 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518786
rs1057518786
SYNGAP1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518794
rs1057518794
ARX
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518845
rs1057518845
SOX5 ; LOC105369696
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518879
rs1057518879
PLOD1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518928
rs1057518928
SOX5
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		A 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519429
rs1057519429
CACNA1A
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519437
rs1057519437
EBF3
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519443
rs1057519443
MPP4
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057519444
rs1057519444
SYN3
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		AA 0.700 CausalMutation CLINVAR

dbSNP: rs1057519450
rs1057519450
HEATR4 ; ACOT1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057519521
rs1057519521
EBF3
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519566
rs1057519566
MDH2
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		T 0.700 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324

2017
dbSNP: rs1057519567
rs1057519567
MDH2
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		T 0.700 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324

2017
dbSNP: rs1057519925
rs1057519925
PIK3CA
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057524157
rs1057524157
DEAF1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		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