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: 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: rs62508730
rs62508730
PAH
1.000 0.120 12 102852935 missense variant C/A;T snv 4.0E-06; 1.7E-04
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 28 1991 2015
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
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: 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: rs76394784
rs76394784
PAH
1.000 0.120 12 102894883 missense variant T/A snv 4.8E-05 7.0E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 1.000 26 1991 2015
dbSNP: rs77958223
rs77958223
PAH
1.000 0.120 12 102855309 missense variant T/A;C snv 7.2E-05
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.800 1.000 26 1994 2016