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: rs1554120894
rs1554120894
SYNGAP1
6 33435150 splice acceptor variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 18 2004 2017
dbSNP: rs1554121353
rs1554121353
SYNGAP1 ; MIR5004
6 33438527 frameshift variant A/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 18 2004 2017
dbSNP: rs1554121353
rs1554121353
SYNGAP1 ; MIR5004
6 33438527 frameshift variant A/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 18 2004 2017
dbSNP: rs1554122402
rs1554122402
SYNGAP1
6 33443961 splice donor variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 18 2004 2017
dbSNP: rs1554122458
rs1554122458
SYNGAP1
6 33444450 frameshift variant -/A delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 18 2004 2017
dbSNP: rs1554122458
rs1554122458
SYNGAP1
6 33444450 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 18 2004 2017
dbSNP: rs1554304258
rs1554304258
SYNGAP1
6 33420307 frameshift variant G/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 18 2004 2017
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C1859846
Disease: Childhood-onset truncal obesity
Childhood-onset truncal obesity 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C0003079
Disease: Anisocoria
Anisocoria 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C1844577
Disease: Hyperextensibility of the finger joints
Hyperextensibility of the finger joints 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C0574974
Disease: Finger joint hypermobility
Finger joint hypermobility 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C1864361
Disease: Lower thoracic kyphosis
Lower thoracic kyphosis 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C1861388
Disease: Short 5th metacarpal
Short 5th metacarpal 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C0241240
Disease: Tall stature
Tall stature 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0