Source: CURATED

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: rs121909241
rs121909241
PTEN
0.790 0.160 10 87933154 missense variant G/A;T snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 9 2006 2017
dbSNP: rs786204900
rs786204900
PTEN
1.000 0.080 10 87933246 frameshift variant AA/-;A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 2002 2017
dbSNP: rs876661024
rs876661024
PTEN
0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 9 1998 2017
dbSNP: rs121909219
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1997 2017
dbSNP: rs587782350
rs587782350
PTEN
0.776 0.160 10 87957955 missense variant C/T snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		0.700 1.000 8 1999 2017
dbSNP: rs587782350
rs587782350
PTEN
0.776 0.160 10 87957955 missense variant C/T snv
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		0.700 1.000 8 1999 2017
dbSNP: rs587782350
rs587782350
PTEN
0.776 0.160 10 87957955 missense variant C/T snv
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		0.700 1.000 8 1999 2017
dbSNP: rs587782350
rs587782350
PTEN
0.776 0.160 10 87957955 missense variant C/T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 8 1999 2017
dbSNP: rs587782350
rs587782350
PTEN
0.776 0.160 10 87957955 missense variant C/T snv
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		0.700 1.000 8 1999 2017
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 7 2000 2017
dbSNP: rs1085308041
rs1085308041
PTEN
0.763 0.160 10 87965285 splice acceptor variant A/C;G snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 6 2000 2017
dbSNP: rs587776667
rs587776667
PTEN
0.742 0.280 10 87931090 splice donor variant G/A;C;T snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 6 1997 2017
dbSNP: rs1064793243
rs1064793243
PTEN
1.000 0.080 10 87933082 missense variant T/C snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 5 2007 2017
dbSNP: rs1114167621
rs1114167621
PTEN
0.790 0.160 10 87931045 splice acceptor variant G/A;C;T snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 1.000 5 1998 2017
dbSNP: rs121909227
rs121909227
PTEN
0.776 0.240 10 87957858 stop gained C/T snv
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		0.700 1.000 5 1998 2017
dbSNP: rs121913289
rs121913289
PTEN
1.000 0.080 10 87958013 frameshift variant A/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2007 2017
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C1848599
Disease: VACTERL Association With Hydrocephalus
VACTERL Association With Hydrocephalus 		0.700 1.000 5 2007 2017
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		0.700 1.000 5 2007 2017
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		0.700 1.000 5 2007 2017
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		0.700 1.000 5 2007 2017
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		0.700 1.000 5 2007 2017
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		0.700 1.000 5 2007 2017
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 5 2007 2017
dbSNP: rs121913293
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 1.000 5 2007 2017
dbSNP: rs1564566706
rs1564566706
PTEN
1.000 0.080 10 87957851 splice acceptor variant A/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 1.000 5 1998 2017