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: rs1427299519
rs1427299519
ASXL1
1.000 20 32433315 stop gained C/T snv 8.0E-06 1.4E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 2004 2015
dbSNP: rs1427299519
rs1427299519
ASXL1
1.000 20 32433315 stop gained C/T snv 8.0E-06 1.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 7 2004 2015
dbSNP: rs1555912285
rs1555912285
ASXL1
1.000 20 32435475 frameshift variant TGTTGAGC/CAA delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 2004 2015
dbSNP: rs1555912285
rs1555912285
ASXL1
1.000 20 32435475 frameshift variant TGTTGAGC/CAA delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 7 2004 2015
dbSNP: rs1555912285
rs1555912285
ASXL1
1.000 20 32435475 frameshift variant TGTTGAGC/CAA delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 2004 2015
dbSNP: rs1555912296
rs1555912296
ASXL1
20 32435501 frameshift variant G/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 2004 2015
dbSNP: rs1555912419
rs1555912419
ASXL1
20 32435823 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 7 2004 2015
dbSNP: rs1555912897
rs1555912897
ASXL1
1.000 20 32436833 frameshift variant -/G delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 2004 2015
dbSNP: rs1555912897
rs1555912897
ASXL1
1.000 20 32436833 frameshift variant -/G delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 2004 2015
dbSNP: rs754129466
rs754129466
ASXL1
1.000 20 32436955 stop gained C/G;T snv 1.2E-04 4.9E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 2004 2015
dbSNP: rs754129466
rs754129466
ASXL1
1.000 20 32436955 stop gained C/G;T snv 1.2E-04 4.9E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 2004 2015
dbSNP: rs777537805
rs777537805
ASXL1
1.000 20 32433740 frameshift variant TG/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 2004 2015
dbSNP: rs777537805
rs777537805
ASXL1
1.000 20 32433740 frameshift variant TG/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 7 2004 2015
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: rs1261178797
rs1261178797
ASXL1
1.000 20 32434812 stop gained T/A;C snv 7.0E-06
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		0.700 0
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: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		0.700 0
dbSNP: rs1569324457
rs1569324457
ASXL1
0.851 0.280 20 32433481 frameshift variant AG/- del
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		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: rs1569324457
rs1569324457
ASXL1
0.851 0.280 20 32433481 frameshift variant AG/- del
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		0.700 0
dbSNP: rs1569324457
rs1569324457
ASXL1
0.851 0.280 20 32433481 frameshift variant AG/- del
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1569324457
rs1569324457
ASXL1
0.851 0.280 20 32433481 frameshift variant AG/- del
CUI: C0042961
Disease: Intestinal Volvulus
Intestinal Volvulus 		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: rs1569337176
rs1569337176
ASXL1
1.000 0.240 20 32436347 frameshift variant C/- delins
CUI: C0796232
Disease: Bohring syndrome
Bohring syndrome 		0.700 0