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: 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: 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: 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: 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: rs1554698878
rs1554698878
HNRNPK
0.925 9 83971976 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 30 1996 2018
dbSNP: rs797044870
rs797044870
CDC42
0.925 1 22086456 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 30 1993 2015
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: 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: 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: 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: 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: 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: 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: 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: 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 26 1995 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 26 1995 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