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: rs1131692232
rs1131692232
PUF60
0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 12 1999 2018
dbSNP: rs1554643463
rs1554643463
PUF60
8 143818387 frameshift variant T/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 12 1999 2018
dbSNP: rs1554643473
rs1554643473
PUF60
1.000 8 143818404 frameshift variant AT/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1999 2018
dbSNP: rs1554643598
rs1554643598
PUF60
1.000 8 143818507 frameshift variant C/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 12 1999 2018
dbSNP: rs1554643598
rs1554643598
PUF60
1.000 8 143818507 frameshift variant C/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1999 2018
dbSNP: rs1085307135
rs1085307135
PUF60
0.882 0.160 8 143818255 missense variant C/T snv
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.700 0
dbSNP: rs1085307135
rs1085307135
PUF60
0.882 0.160 8 143818255 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1085307135
rs1085307135
PUF60
0.882 0.160 8 143818255 missense variant C/T snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.700 0
dbSNP: rs1085307135
rs1085307135
PUF60
0.882 0.160 8 143818255 missense variant C/T snv
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.700 0
dbSNP: rs1085307135
rs1085307135
PUF60
0.882 0.160 8 143818255 missense variant C/T snv
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney 		0.700 0
dbSNP: rs1085307137
rs1085307137
PUF60
0.851 0.160 8 143818408 missense variant C/T snv 7.0E-06
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs1085307137
rs1085307137
PUF60
0.851 0.160 8 143818408 missense variant C/T snv 7.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1085307137
rs1085307137
PUF60
0.851 0.160 8 143818408 missense variant C/T snv 7.0E-06
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.700 0
dbSNP: rs1085307137
rs1085307137
PUF60
0.851 0.160 8 143818408 missense variant C/T snv 7.0E-06
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.700 0
dbSNP: rs1085307137
rs1085307137
PUF60
0.851 0.160 8 143818408 missense variant C/T snv 7.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1131692232
rs1131692232
PUF60
0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs1131692232
rs1131692232
PUF60
0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		0.700 0
dbSNP: rs1131692232
rs1131692232
PUF60
0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.700 0
dbSNP: rs1131692232
rs1131692232
PUF60
0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1131692232
rs1131692232
PUF60
0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins
CUI: C0040115
Disease: Thymus Hyperplasia
Thymus Hyperplasia 		0.700 0
dbSNP: rs1554643142
rs1554643142
PUF60
0.925 0.120 8 143818042 frameshift variant CCTGCCCTATGTTGCTGGG/- delins
CUI: C4551487
Disease: Submucous cleft palate
Submucous cleft palate 		0.700 0
dbSNP: rs1554643142
rs1554643142
PUF60
0.925 0.120 8 143818042 frameshift variant CCTGCCCTATGTTGCTGGG/- delins
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0
dbSNP: rs1554643142
rs1554643142
PUF60
0.925 0.120 8 143818042 frameshift variant CCTGCCCTATGTTGCTGGG/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1554643142
rs1554643142
PUF60
0.925 0.120 8 143818042 frameshift variant CCTGCCCTATGTTGCTGGG/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1554643168
rs1554643168
PUF60
0.851 0.160 8 143818077 splice acceptor variant T/C;G snv
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.700 0