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: rs373145711
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		0.700 0
dbSNP: rs1569324457
rs1569324457
ASXL1
0.851 0.280 20 32433481 frameshift variant AG/- del
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs1569339085
rs1569339085
ASXL1
1.000 0.240 20 32436772 stop gained G/T snv
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.700 1.000 2 2014 2016
dbSNP: rs1555901138
rs1555901138
ASXL1
1.000 0.240 20 32369088 stop gained A/T snv
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.700 0
dbSNP: rs1555912709
rs1555912709
ASXL1
1.000 0.240 20 32436462 frameshift variant GACAG/- delins
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.700 0
dbSNP: rs1569324457
rs1569324457
ASXL1
0.851 0.280 20 32433481 frameshift variant AG/- del
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.700 0
dbSNP: rs1569337176
rs1569337176
ASXL1
1.000 0.240 20 32436347 frameshift variant C/- delins
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.700 0
dbSNP: rs1569337452
rs1569337452
ASXL1
1.000 0.240 20 32436412 stop gained C/T snv
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.700 0
dbSNP: rs200702600
rs200702600
ASXL1
1.000 0.240 20 32435795 stop gained C/A;T snv 8.4E-05
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.700 0
dbSNP: rs387907077
rs387907077
ASXL1
1.000 0.240 20 32435485 stop gained C/T snv
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.700 0
dbSNP: rs387907078
rs387907078
ASXL1
1.000 0.240 20 32434909 stop gained C/T snv 4.0E-06
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.700 0
dbSNP: rs397515401
rs397515401
ASXL1
1.000 0.240 20 32435605 stop gained C/T snv 1.2E-05; 1.6E-04
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.700 0
dbSNP: rs750318549
rs750318549
ASXL1
1.000 0.240 20 32434639 frameshift variant GG/-;G;GGG delins 7.1E-06
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.700 0
dbSNP: rs764651405
rs764651405
ASXL1
1.000 0.240 20 32435914 stop gained C/T snv
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.700 0