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: rs1057519392
rs1057519392
POGZ
1.000 0.160 1 151412348 missense variant A/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057519392
rs1057519392
POGZ
1.000 0.160 1 151412348 missense variant A/G snv
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		0.700 0
dbSNP: rs1131692270
rs1131692270
POGZ
1.000 0.160 1 151412327 missense variant T/C snv
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		0.700 0
dbSNP: rs1131692270
rs1131692270
POGZ
1.000 0.160 1 151412327 missense variant T/C snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1135401798
rs1135401798
POGZ
1.000 0.160 1 151411741 stop gained C/A snv
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		0.700 0
dbSNP: rs1276388879
rs1276388879
POGZ
1.000 0.040 1 151405647 missense variant A/C;G snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 0
dbSNP: rs1372713010
rs1372713010
POGZ
1.000 0.040 1 151428041 missense variant G/A snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 0
dbSNP: rs1418634444
rs1418634444
POGZ
1.000 0.040 1 151408777 missense variant T/C snv 7.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 0
dbSNP: rs1452048149
rs1452048149
POGZ
1.000 0.040 1 151404828 missense variant C/T snv 4.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 0
dbSNP: rs1476293577
rs1476293577
POGZ
1.000 0.040 1 151428188 missense variant G/A;C snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 0
dbSNP: rs1484207450
rs1484207450
POGZ
1.000 0.040 1 151405155 missense variant A/G snv 7.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 0
dbSNP: rs1553212374
rs1553212374
POGZ
1.000 0.160 1 151405828 frameshift variant TA/- delins
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0024433
Disease: Macrostomia
Macrostomia 		0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		0.700 0