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: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C0152421
Disease: Macrotia
Macrotia 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C4021099
Disease: Orthostatic tachycardia
Orthostatic tachycardia 		0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv
CUI: C1844505
Disease: Pointed chin
Pointed chin 		0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv
CUI: C1854301
Disease: Motor delay
Motor delay 		0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv
CUI: C1835884
Disease: Triangular face
Triangular face 		0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv
CUI: C4025747
Disease: Bulbous tips of toes
Bulbous tips of toes 		0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv
CUI: C0239676
Disease: High forehead
High forehead 		0.700 0