Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864321623
rs864321623
UNC80
CUI: C4225203
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 		A 0.800 CausalMutation CLINVAR

dbSNP: rs869025316
rs869025316
UNC80
CUI: C4225203
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 		T 0.800 GeneticVariation CLINVAR

dbSNP: rs869025316
rs869025316
UNC80
CUI: C4225203
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 		T 0.800 CausalMutation CLINVAR

dbSNP: rs1135401813
rs1135401813
UNC80
CUI: C4225203
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 		C 0.700 CausalMutation CLINVAR Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). 30167850

2018
dbSNP: rs1553621490
rs1553621490
UNC80
CUI: C4225203
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C1854882
Disease: Absent speech
Absent speech 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C4225203
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C1836038
Disease: Poor head control
Poor head control 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C0014877
Disease: Esotropia
Esotropia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C0007642
Disease: Cellulitis
Cellulitis 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C0039231
Disease: Tachycardia
Tachycardia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C1847524
Disease: Hyperopic astigmatism
Hyperopic astigmatism 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C4023452
Disease: Elevated C-reactive protein level
Elevated C-reactive protein level 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		G 0.700 GeneticVariation CLINVAR