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: rs1554120939
rs1554120939
SYNGAP1
1.000 6 33435269 frameshift variant -/CACA delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 18 2004 2017
dbSNP: rs1554120939
rs1554120939
SYNGAP1
1.000 6 33435269 frameshift variant -/CACA delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 2004 2017
dbSNP: rs1554121729
rs1554121729
SYNGAP1
1.000 6 33440943 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 2004 2017
dbSNP: rs1554122252
rs1554122252
SYNGAP1
1.000 6 33443341 frameshift variant CT/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 2004 2017
dbSNP: rs1554122252
rs1554122252
SYNGAP1
1.000 6 33443341 frameshift variant CT/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 18 2004 2017
dbSNP: rs1554122252
rs1554122252
SYNGAP1
1.000 6 33443341 frameshift variant CT/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 18 2004 2017
dbSNP: rs1554121189
rs1554121189
SYNGAP1 ; MIR5004
1.000 0.160 6 33437760 frameshift variant -/TGGATGAC delins
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.700 1.000 2 2013 2013
dbSNP: rs397514670
rs397514670
SYNGAP1
1.000 0.160 6 33440737 missense variant C/T snv
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.800 1.000 2 2009 2016
dbSNP: rs397514741
rs397514741
SYNGAP1
1.000 0.160 6 33432724 stop gained C/T snv
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.700 1.000 2 2013 2016
dbSNP: rs869312955
rs869312955
SYNGAP1
1.000 0.160 6 33446710 stop gained C/T snv
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.700 1.000 2 2015 2016
dbSNP: rs1131691979
rs1131691979
SYNGAP1
1.000 0.160 6 33432198 frameshift variant A/- del
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.700 1.000 1 2014 2014
dbSNP: rs397515320
rs397515320
SYNGAP1
1.000 0.160 6 33442990 frameshift variant T/- del
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.700 1.000 1 2009 2009
dbSNP: rs797045012
rs797045012
SYNGAP1
1.000 0.160 6 33432683 splice acceptor variant A/C;G snv
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.700 1.000 1 2013 2013
dbSNP: rs1057518352
rs1057518352
SYNGAP1
1.000 0.160 6 33432787 stop gained C/T snv
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.700 0
dbSNP: rs1057518786
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1057518786
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1057518786
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		0.700 0
dbSNP: rs1057518786
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518786
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.700 0
dbSNP: rs1057518796
rs1057518796
SYNGAP1
1.000 6 33443751 frameshift variant C/- delins
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.700 0
dbSNP: rs1057518796
rs1057518796
SYNGAP1
1.000 6 33443751 frameshift variant C/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518796
rs1057518796
SYNGAP1
1.000 6 33443751 frameshift variant C/- delins
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0
dbSNP: rs1057519400
rs1057519400
SYNGAP1
1.000 0.160 6 33440958 frameshift variant TT/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057519400
rs1057519400
SYNGAP1
1.000 0.160 6 33440958 frameshift variant TT/- delins
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.700 0
dbSNP: rs1057519405
rs1057519405
SYNGAP1
1.000 0.160 6 33440735 frameshift variant C/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0