Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057516040
rs1057516040
NALCN
0.851 0.200 13 101292052 missense variant T/C snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2016 2016
dbSNP: rs1057516040
rs1057516040
NALCN
0.851 0.200 13 101292052 missense variant T/C snv
CUI: C4023171
Disease: Chin with horizontal crease
Chin with horizontal crease 		0.700 1.000 1 2016 2016
dbSNP: rs1057516040
rs1057516040
NALCN
0.851 0.200 13 101292052 missense variant T/C snv
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		0.700 1.000 1 2016 2016
dbSNP: rs1057516040
rs1057516040
NALCN
0.851 0.200 13 101292052 missense variant T/C snv
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 		0.700 1.000 1 2016 2016
dbSNP: rs1057516040
rs1057516040
NALCN
0.851 0.200 13 101292052 missense variant T/C snv
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		0.700 1.000 1 2016 2016
dbSNP: rs1057516040
rs1057516040
NALCN
0.851 0.200 13 101292052 missense variant T/C snv
CUI: C3494422
Disease: Retrognathia
Retrognathia 		0.700 1.000 1 2016 2016
dbSNP: rs1057516040
rs1057516040
NALCN
0.851 0.200 13 101292052 missense variant T/C snv
CUI: C4025173
Disease: Arthrogryposis-like hand anomaly
Arthrogryposis-like hand anomaly 		0.700 1.000 1 2016 2016
dbSNP: rs1057519432
rs1057519432
NALCN
1.000 13 101192042 missense variant T/C snv
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 		0.700 0
dbSNP: rs1057519433
rs1057519433
NALCN
1.000 13 101292072 missense variant A/G snv
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 		0.700 0
dbSNP: rs1158141270
rs1158141270
NALCN
0.925 13 101061967 splice donor variant C/A snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 9 2013 2017
dbSNP: rs1158141270
rs1158141270
NALCN
0.925 13 101061967 splice donor variant C/A snv 4.0E-06
CUI: C3809454
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 		0.700 0
dbSNP: rs1158141270
rs1158141270
NALCN
0.925 13 101061967 splice donor variant C/A snv 4.0E-06
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 		0.700 0
dbSNP: rs1158771233
rs1158771233
NALCN
1.000 13 101068789 stop gained G/T snv 7.0E-06
CUI: C3809454
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 		0.700 0
dbSNP: rs1555373511
rs1555373511
NALCN
13 101062119 splice acceptor variant C/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 9 2013 2017
dbSNP: rs1555379886
rs1555379886
NALCN
1.000 13 101095574 stop gained C/T snv
CUI: C3809454
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 		0.700 0
dbSNP: rs1555381108
rs1555381108
NALCN
1.000 13 101100882 missense variant T/C snv
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 		0.700 0
dbSNP: rs1566385468
rs1566385468
NALCN
1.000 13 101176339 missense variant G/T snv
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 		0.700 0
dbSNP: rs1566460907
rs1566460907
NALCN
1.000 13 101229448 missense variant C/T snv
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 		0.700 0
dbSNP: rs587777038
rs587777038
NALCN
1.000 13 101144812 stop gained G/A;C snv
CUI: C3809454
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 		0.700 0
dbSNP: rs587777068
rs587777068
NALCN
1.000 13 101081552 missense variant C/A snv
CUI: C3809454
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 		0.800 1.000 0 2013 2013
dbSNP: rs786201003
rs786201003
NALCN
0.925 0.080 13 101083752 missense variant C/T snv
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 		0.700 1.000 1 2015 2015
dbSNP: rs786203984
rs786203984
NALCN
1.000 13 101376814 missense variant T/G snv
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 		0.800 1.000 1 2015 2015
dbSNP: rs786203985
rs786203985
NALCN
1.000 13 101292228 missense variant A/C snv
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 		0.800 1.000 1 2015 2015
dbSNP: rs786203986
rs786203986
NALCN
0.925 13 101176371 missense variant G/A;C snv 4.3E-06
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 		0.810 1.000 1 2015 2016
dbSNP: rs786203987
rs786203987
NALCN
1.000 13 101229493 missense variant A/G snv
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 		0.800 1.000 1 2015 2015