Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs762292772
rs762292772
SHANK3
4 0.882 0.160 22 50721505 frameshift variant G/-;GG delins 0.700 1.000 2 2015 2019
dbSNP: rs121912562
rs121912562
NR3C2
2 0.925 0.160 4 148435252 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1396313317
rs1396313317
CNTNAP2 ; LOC107986721
1 1.000 0.040 7 147562137 splice acceptor variant G/A;C snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1553518509
rs1553518509
MBD5
2 1.000 0.040 2 148468916 stop gained C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1555910143
rs1555910143
SHANK3
2 0.925 0.120 22 50721257 frameshift variant CT/- del 0.700 1.000 1 2019 2019
dbSNP: rs1561824498
rs1561824498
MEF2C
1 1.000 0.040 5 88752044 splice acceptor variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1564801388
rs1564801388
PTEN ; KLLN
1 1.000 0.040 10 87864353 5 prime UTR variant -/G delins 0.700 1.000 1 2019 2019
dbSNP: rs1564801473
rs1564801473
PTEN ; KLLN
1 1.000 0.040 10 87864406 5 prime UTR variant -/C delins 0.700 1.000 1 2019 2019
dbSNP: rs1564950387
rs1564950387
DEAF1
1 1.000 0.040 11 687909 splice donor variant A/C snv 0.700 1.000 1 2019 2019
dbSNP: rs1565527302
rs1565527302
SHANK2
1 1.000 0.040 11 70485988 frameshift variant TG/- del 0.700 1.000 1 2019 2019
dbSNP: rs1567533189
rs1567533189
TSC2
2 0.925 0.160 16 2086283 frameshift variant AAGGACTGCCA/- del 0.700 1.000 1 2019 2019
dbSNP: rs1569305431
rs1569305431
IQSEC2
1 1.000 0.040 X 53254702 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1569513495
rs1569513495
SBF1
1 1.000 0.040 22 50465238 stop gained C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs724159978
rs724159978
RNF135
1 1.000 0.040 17 30998906 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs727504317
rs727504317
MAP2K1
6 0.807 0.320 15 66435145 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs762735676
rs762735676
NF1
1 1.000 0.040 17 31221945 frameshift variant TTT/-;TTTT delins 6.6E-05 0.700 1.000 1 2019 2019
dbSNP: rs796052733
rs796052733
MEF2C
1 1.000 0.040 5 88731773 stop gained G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs886037776
rs886037776
EHMT1
2 0.925 0.280 9 137817477 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1085308043
rs1085308043
PTEN
12 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs121909219
rs121909219
PTEN
24 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs121909224
rs121909224
PTEN
35 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs121909231
rs121909231
PTEN
29 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
dbSNP: rs1276388879
rs1276388879
POGZ
1 1.000 0.040 1 151405647 missense variant A/C;G snv 0.700 0
dbSNP: rs1372713010
rs1372713010
POGZ
1 1.000 0.040 1 151428041 missense variant G/A snv 0.700 0
dbSNP: rs1452048149
rs1452048149
POGZ
1 1.000 0.040 1 151404828 missense variant C/T snv 4.0E-06 0.700 0