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: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C4021959
Disease: Round ear
Round ear 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C1854408
Disease: Glabellar hemangioma
Glabellar hemangioma 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C4023689
Disease: Abnormality of copper homeostasis
Abnormality of copper homeostasis 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0685707
Disease: Muscular ventricular septum defect
Muscular ventricular septum defect 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0423113
Disease: Telecanthus
Telecanthus 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		0.700 0
dbSNP: rs886041066
rs886041066
ASXL2
1.000 2 25744255 frameshift variant -/C delins
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		0.700 0
dbSNP: rs886041067
rs886041067
ASXL2
1.000 2 25750328 frameshift variant GTTG/- delins
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		0.700 0
dbSNP: rs886041068
rs886041068
ASXL2
1.000 2 25743865 frameshift variant G/- delins
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		0.700 0
dbSNP: rs886041069
rs886041069
ASXL2
1.000 2 25743363 frameshift variant TCCC/- delins
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		0.700 0
dbSNP: rs886041070
rs886041070
ASXL2
1.000 2 25750268 stop gained C/A snv
CUI: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		0.700 0