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: rs1553368900
rs1553368900
NRXN1
1.000 0.040 2 50925810 splice acceptor variant CACAATCCAGAAACCAACAAATGTTCAGAAAGAAGTTCAACTTACCATCTAACTTCAAGATGTACCCTATTAGTACTAAGAAATAAAGGACAAATGAGAGTTGGAAAAATAAGGTAGAAAGCACCCACCTTCCACATTGTTGTCTTCTGAAAGCACATGACAAGGAGGGAGAGAAAAGGAAAAACATTCATTAAGCAGCATGCAGACTGGACCTTGCCTTTGCATGTCTTCCTCATGCAAGGCACCAAACACATCATGCAAGTGCTCCATCACTATCATTCAAGGGGGAAAACAAAATCACAGGGAAGCAGGTTCCCTCCCATTGGCAGCATTGATAGGAAGTGAGACAAACTTTCATAATACTGCCATGCCCTGTGCAAAGAGTTTTTAAAAAAATCTTTCAACTACCCAGTATAAAGCAAACATTATTGTTATTACATGTTGCTGGTG/- del
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 1.000 2 2012 2013
dbSNP: rs387907144
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 1.000 2 2012 2015
dbSNP: rs1057519565
rs1057519565
DEAF1
0.851 0.200 11 687941 missense variant C/T snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 1.000 1 2017 2017
dbSNP: rs1554297905
rs1554297905
RALA
0.882 0.160 7 39686740 missense variant G/A snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 1.000 1 2018 2018
dbSNP: rs1554904159
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 1.000 1 2019 2019
dbSNP: rs1554904772
rs1554904772
BRSK2
0.882 0.280 11 1443490 missense variant G/A snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 1.000 1 2019 2019
dbSNP: rs1554943158
rs1554943158
DEAF1
0.882 0.040 11 681045 inframe deletion CTT/- delins
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 1.000 1 2017 2017
dbSNP: rs1554944271
rs1554944271
DEAF1
0.851 0.240 11 686925 missense variant C/G snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 1.000 1 2017 2017
dbSNP: rs1555649483
rs1555649483
BPTF
0.851 0.200 17 67909751 splice donor variant GAAGGACCAAGG/- del
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 1.000 1 2017 2017
dbSNP: rs1567368243
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 1.000 1 2019 2019
dbSNP: rs1057518850
rs1057518850
FMR1
1.000 0.040 X 147928320 splice acceptor variant A/G snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1057524237
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1085308042
rs1085308042
PTEN
0.882 0.120 10 87894076 missense variant G/A snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1085308044
rs1085308044
PTEN ; KLLN
0.882 0.120 10 87864504 missense variant A/C snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1085308045
rs1085308045
PTEN
0.807 0.160 10 87933128 missense variant C/G;T snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1085308046
rs1085308046
PTEN
0.790 0.240 10 87933160 missense variant T/C;G snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1085308047
rs1085308047
PTEN ; KLLN
0.827 0.160 10 87864509 missense variant A/G snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1085308048
rs1085308048
PTEN
0.851 0.320 10 87933175 stop gained T/G snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1085308050
rs1085308050
PTEN
0.827 0.160 10 87933178 frameshift variant -/A delins
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1085308051
rs1085308051
PTEN
0.882 0.200 10 87933229 missense variant A/G snv 4.0E-06
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1085308052
rs1085308052
PTEN
0.851 0.160 10 87952144 frameshift variant -/T delins
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1085308054
rs1085308054
PTEN
0.827 0.160 10 87952231 frameshift variant AT/- delins
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1085308055
rs1085308055
PTEN
0.882 0.120 10 87952240 frameshift variant TCAGT/- delins
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1085308056
rs1085308056
PTEN
0.851 0.160 10 87957850 splice region variant C/G snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0