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: rs1555850868
rs1555850868
KCNQ2
1.000 20 63407149 frameshift variant G/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 29 1980 2017
dbSNP: rs1555850868
rs1555850868
KCNQ2
1.000 20 63407149 frameshift variant G/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 29 1980 2017
dbSNP: rs1555873985
rs1555873985
KCNQ2 ; KCNQ2-AS1
0.925 20 63445322 missense variant G/A;C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 29 1980 2017
dbSNP: rs1555873985
rs1555873985
KCNQ2 ; KCNQ2-AS1
0.925 20 63445322 missense variant G/A;C snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 29 1980 2017
dbSNP: rs797044938
rs797044938
KCNQ2
20 63442529 missense variant C/A;G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 29 1980 2017
dbSNP: rs1382415023
rs1382415023
SON
1.000 21 33554945 frameshift variant GAAA/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 28 1988 2016
dbSNP: rs1382415023
rs1382415023
SON
1.000 21 33554945 frameshift variant GAAA/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 28 1988 2016
dbSNP: rs1382415023
rs1382415023
SON
1.000 21 33554945 frameshift variant GAAA/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 28 1988 2016
dbSNP: rs1555899177
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 28 1988 2016
dbSNP: rs1555899177
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 28 1988 2016
dbSNP: rs1555899177
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 28 1988 2016
dbSNP: rs1555899177
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 28 1988 2016
dbSNP: rs1555899242
rs1555899242
SON
1.000 21 33554269 stop gained G/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 28 1988 2016
dbSNP: rs1555899242
rs1555899242
SON
1.000 21 33554269 stop gained G/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 28 1988 2016
dbSNP: rs1555899379
rs1555899379
SON
1.000 21 33554726 stop gained CTG/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 28 1988 2016
dbSNP: rs1555899379
rs1555899379
SON
1.000 21 33554726 stop gained CTG/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 28 1988 2016
dbSNP: rs886039774
rs886039774
SON
21 33554777 frameshift variant GA/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 28 1988 2016
dbSNP: rs1554776842
rs1554776842
STXBP1
9 127660080 frameshift variant C/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 27 1998 2016
dbSNP: rs1554777375
rs1554777375
STXBP1
9 127665304 frameshift variant -/A delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 27 1998 2016
dbSNP: rs1554777375
rs1554777375
STXBP1
9 127665304 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 27 1998 2016
dbSNP: rs1554777919
rs1554777919
STXBP1
9 127669950 frameshift variant G/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 27 1998 2016
dbSNP: rs1554777919
rs1554777919
STXBP1
9 127669950 frameshift variant G/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 27 1998 2016
dbSNP: rs1554778941
rs1554778941
STXBP1
9 127682485 frameshift variant G/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 27 1998 2016
dbSNP: rs1554778941
rs1554778941
STXBP1
9 127682485 frameshift variant G/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 27 1998 2016
dbSNP: rs1555859157
rs1555859157
ATP1A3
1.000 19 41968833 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 27 1988 2017