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: rs1057520918
rs1057520918
0.790 0.160 19 13262780 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 46 1988 2017
dbSNP: rs886037945
rs886037945
0.827 0.160 19 13303584 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 46 1988 2017
dbSNP: rs1554767313
rs1554767313
9 128203597 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 38 1983 2017
dbSNP: rs1554767317
rs1554767317
1.000 9 128203604 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 38 1983 2017
dbSNP: rs1554774587
rs1554774587
1.000 9 128222543 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 38 1983 2017
dbSNP: rs781139634
rs781139634
2 25235768 stop gained G/A snv 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 36 1989 2018
dbSNP: rs137854562
rs137854562
NF1
0.925 0.120 17 31235623 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 34 1967 2017
dbSNP: rs1553583712
rs1553583712
1.000 2 165354339 frameshift variant GA/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 34 1991 2017
dbSNP: rs1555533842
rs1555533842
NF1
1.000 17 31330303 frameshift variant -/C delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 34 1967 2017
dbSNP: rs1554698878
rs1554698878
0.925 9 83971976 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 30 1996 2018
dbSNP: rs1555873985
rs1555873985
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: rs797044938
rs797044938
20 63442529 missense variant C/A;G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 29 1980 2017
dbSNP: rs869025411
rs869025411
0.925 0.160 15 48432911 missense variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 29 1986 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
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: rs886039774
rs886039774
SON
21 33554777 frameshift variant GA/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 28 1988 2016
dbSNP: rs1554777375
rs1554777375
9 127665304 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 27 1998 2016
dbSNP: rs1554778941
rs1554778941
9 127682485 frameshift variant G/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 27 1998 2016
dbSNP: rs1555859593
rs1555859593
1.000 19 41970483 missense variant G/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 27 1988 2017
dbSNP: rs796053361
rs796053361
0.925 0.040 9 127668160 missense variant G/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 27 1998 2016
dbSNP: rs797044897
rs797044897
19 41984940 missense variant T/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 27 1988 2017
dbSNP: rs80356537
rs80356537
0.752 0.320 19 41970405 missense variant C/A;G;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 27 1988 2017
dbSNP: rs1553270522
rs1553270522
1.000 1 244054804 frameshift variant GATGA/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 26 1997 2017
dbSNP: rs1555226081
rs1555226081
1.000 12 51768899 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 26 1995 2017