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: rs398123001
rs398123001
PUF60
0.925 8 143818378 missense variant G/A snv
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.800 1.000 0 2013 2013
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: rs1057518681
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv
CUI: C3810023
Disease: VERHEIJ SYNDROME
VERHEIJ SYNDROME 		0.700 0
dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0
dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.700 0
dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1064795388
rs1064795388
PUF60 ; NRBP2 ; LOC107986985
0.882 0.080 8 143829279 splice donor variant C/G;T snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 0
dbSNP: rs1064795388
rs1064795388
PUF60 ; NRBP2 ; LOC107986985
0.882 0.080 8 143829279 splice donor variant C/G;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1064795388
rs1064795388
PUF60 ; NRBP2 ; LOC107986985
0.882 0.080 8 143829279 splice donor variant C/G;T snv
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
Partial or complete agenesis of corpus callosum 		0.700 0
dbSNP: rs1085307132
rs1085307132
PUF60 ; SCRIB
0.882 0.160 8 143817668 frameshift variant -/TTTT delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1085307132
rs1085307132
PUF60 ; SCRIB
0.882 0.160 8 143817668 frameshift variant -/TTTT delins
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0
dbSNP: rs1085307132
rs1085307132
PUF60 ; SCRIB
0.882 0.160 8 143817668 frameshift variant -/TTTT delins
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs1085307132
rs1085307132
PUF60 ; SCRIB
0.882 0.160 8 143817668 frameshift variant -/TTTT delins
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.700 0
dbSNP: rs1085307132
rs1085307132
PUF60 ; SCRIB
0.882 0.160 8 143817668 frameshift variant -/TTTT delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1085307134
rs1085307134
PUF60 ; SCRIB
0.925 0.040 8 143816728 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1085307134
rs1085307134
PUF60 ; SCRIB
0.925 0.040 8 143816728 missense variant C/T snv
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.700 0
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