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: rs1318353774
rs1318353774
CACNA1A
1.000 19 13298827 stop gained G/A;C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 46 1988 2017
dbSNP: rs1318353774
rs1318353774
CACNA1A
1.000 19 13298827 stop gained G/A;C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 46 1988 2017
dbSNP: rs1555756091
rs1555756091
CACNA1A
1.000 19 13298847 frameshift variant -/A ins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 46 1988 2017
dbSNP: rs713993050
rs713993050
ABCD1 ; BCAP31
1.000 0.160 X 153725514 frameshift variant -/C delins
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.700 1.000 45 1981 2014
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
1.000 9 128203604 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 38 1983 2017
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
1.000 9 128203604 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 38 1983 2017
dbSNP: rs1554773487
rs1554773487
DNM1
1.000 9 128220205 missense variant G/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 38 1983 2017
dbSNP: rs1554774587
rs1554774587
DNM1
1.000 9 128222543 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 38 1983 2017
dbSNP: rs757823678
rs757823678
DNMT3A
1.000 0.160 2 25240312 missense variant C/A;T snv 4.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 36 1989 2018
dbSNP: rs1553583712
rs1553583712
SCN2A
1.000 2 165354339 frameshift variant GA/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 34 1991 2017
dbSNP: rs1553583712
rs1553583712
SCN2A
1.000 2 165354339 frameshift variant GA/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1991 2017
dbSNP: rs1555533842
rs1555533842
NF1
1.000 17 31330303 frameshift variant -/C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1967 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: rs1555533842
rs1555533842
NF1
1.000 17 31330303 frameshift variant -/C delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 34 1967 2017
dbSNP: rs1555534380
rs1555534380
NF1
1.000 17 31334860 stop gained T/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1967 2017
dbSNP: rs1555535052
rs1555535052
NF1
1.000 17 31338798 frameshift variant -/TA delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1967 2017
dbSNP: rs5030847
rs5030847
PAH
1.000 0.120 12 102852903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.810 1.000 33 1989 2017
dbSNP: rs137853287
rs137853287
ATP7B
1.000 0.160 13 51958362 frameshift variant G/-;GG delins 1.1E-04
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.700 1.000 31 1995 2016
dbSNP: rs137853284
rs137853284
ATP7B
1.000 0.160 13 51958334 missense variant G/A;C snv 5.2E-05; 8.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.800 1.000 30 1995 2017
dbSNP: rs797044916
rs797044916
CDC42
1.000 1 22078546 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 30 1993 2015
dbSNP: rs1555393647
rs1555393647
FBN1
1.000 15 48412588 frameshift variant -/T delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 29 1986 2016
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: rs1555869758
rs1555869758
KCNQ2
1.000 0.040 20 63438654 missense variant T/C snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 29 1980 2017
dbSNP: rs121907993
rs121907993
ATP7B
1.000 0.160 13 51949772 missense variant G/A;C;T snv 6.0E-05; 2.8E-05; 4.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.800 1.000 28 1995 2017