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: rs1114167445
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		0.700 1.000 1 2017 2017
dbSNP: rs1114167445
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		0.700 1.000 1 2017 2017
dbSNP: rs1114167445
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		0.700 1.000 1 2017 2017
dbSNP: rs1114167445
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.700 1.000 1 2017 2017
dbSNP: rs1114167445
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 1.000 1 2017 2017
dbSNP: rs1114167445
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06
CUI: C1858719
Disease: Facial muscle weakness of muscles innervated by CN VII
Facial muscle weakness of muscles innervated by CN VII 		0.700 1.000 1 2017 2017
dbSNP: rs1114167445
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 1.000 1 2017 2017
dbSNP: rs1114167445
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06
CUI: C0917967
Disease: Pupillary Functions, Abnormal
Pupillary Functions, Abnormal 		0.700 1.000 1 2017 2017
dbSNP: rs1114167445
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		0.700 1.000 1 2017 2017
dbSNP: rs1114167445
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 1.000 1 2017 2017
dbSNP: rs1114167445
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 1.000 1 2017 2017
dbSNP: rs1114167445
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06
CUI: C1836038
Disease: Poor head control
Poor head control 		0.700 1.000 1 2017 2017
dbSNP: rs1114167445
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		0.700 1.000 1 2017 2017
dbSNP: rs1114167445
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1114167445
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06
CUI: C4479603
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS 		0.700 0