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: rs1555859593
rs1555859593
ATP1A3
1.000 19 41970483 missense variant G/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 27 1988 2017
dbSNP: rs1555859593
rs1555859593
ATP1A3
1.000 19 41970483 missense variant G/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 27 1988 2017
dbSNP: rs1555859593
rs1555859593
ATP1A3
1.000 19 41970483 missense variant G/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 27 1988 2017
dbSNP: rs200891944
rs200891944
ATP1A3
19 41981976 missense variant C/A;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 27 1988 2017
dbSNP: rs767199598
rs767199598
STXBP1
9 127682451 stop gained C/A;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 27 1998 2016
dbSNP: rs797044897
rs797044897
ATP1A3
19 41984940 missense variant T/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 27 1988 2017
dbSNP: rs1553270522
rs1553270522
ZBTB18
1.000 1 244054804 frameshift variant GATGA/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 26 1997 2017
dbSNP: rs1553270522
rs1553270522
ZBTB18
1.000 1 244054804 frameshift variant GATGA/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 26 1997 2017
dbSNP: rs1553270522
rs1553270522
ZBTB18
1.000 1 244054804 frameshift variant GATGA/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 26 1997 2017
dbSNP: rs1554928978
rs1554928978
FGFR2
1.000 10 121517425 splice acceptor variant CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 26 1985 2017
dbSNP: rs1554928978
rs1554928978
FGFR2
1.000 10 121517425 splice acceptor variant CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 26 1985 2017
dbSNP: rs1555226081
rs1555226081
SCN8A
1.000 12 51768899 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 26 1995 2017
dbSNP: rs1555226081
rs1555226081
SCN8A
1.000 12 51768899 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 26 1995 2017
dbSNP: rs1555230924
rs1555230924
SCN8A
12 51806351 missense variant C/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 26 1995 2017
dbSNP: rs1555230924
rs1555230924
SCN8A
12 51806351 missense variant C/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 26 1995 2017
dbSNP: rs797044885
rs797044885
ZBTB18
0.925 1 244055156 missense variant A/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 26 1997 2017
dbSNP: rs797044885
rs797044885
ZBTB18
0.925 1 244055156 missense variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 26 1997 2017
dbSNP: rs797044885
rs797044885
ZBTB18
0.925 1 244055156 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 26 1997 2017
dbSNP: rs797044953
rs797044953
SETD5
1.000 3 9447684 splice acceptor variant A/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 26 1995 2018
dbSNP: rs797044953
rs797044953
SETD5
1.000 3 9447684 splice acceptor variant A/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 26 1995 2018
dbSNP: rs797044953
rs797044953
SETD5
1.000 3 9447684 splice acceptor variant A/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 26 1995 2018
dbSNP: rs875989786
rs875989786
ZBTB18
1.000 1 244054957 stop gained C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 26 1997 2017
dbSNP: rs1553352926
rs1553352926
BCL11A
0.925 2 60545969 splice donor variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 25 2000 2018
dbSNP: rs1553352926
rs1553352926
BCL11A
0.925 2 60545969 splice donor variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 2000 2018
dbSNP: rs1553521389
rs1553521389
CUL3
1.000 2 224503679 frameshift variant AG/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 25 1986 2016