Source: ALL

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: rs1554898085
rs1554898085
PTEN
0.790 0.160 10 87933061 frameshift variant -/AAACC delins
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		0.700 0
dbSNP: rs1554898085
rs1554898085
PTEN
0.790 0.160 10 87933061 frameshift variant -/AAACC delins
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0
dbSNP: rs1554898085
rs1554898085
PTEN
0.790 0.160 10 87933061 frameshift variant -/AAACC delins
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		0.700 0
dbSNP: rs1554898085
rs1554898085
PTEN
0.790 0.160 10 87933061 frameshift variant -/AAACC delins
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs1554898085
rs1554898085
PTEN
0.790 0.160 10 87933061 frameshift variant -/AAACC delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs786204898
rs786204898
PTEN
10 87931052 frameshift variant -/AAGA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1554825222
rs1554825222
PTEN
10 87957958 frameshift variant -/AC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1554826052
rs1554826052
PTEN
10 87965387 frameshift variant -/AT ins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1999 2014
dbSNP: rs786204902
rs786204902
PTEN
10 87957956 frameshift variant -/AT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs878853942
rs878853942
PTEN
1.000 0.080 10 87957972 frameshift variant -/AT delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs1114167628
rs1114167628
PTEN
0.925 0.080 10 87961033 stop gained -/ATATCTAG delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs1114167628
rs1114167628
PTEN
0.925 0.080 10 87961033 stop gained -/ATATCTAG delins
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2013 2013
dbSNP: rs1114167628
rs1114167628
PTEN
0.925 0.080 10 87961033 stop gained -/ATATCTAG delins
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs1114167628
rs1114167628
PTEN
0.925 0.080 10 87961033 stop gained -/ATATCTAG delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2013 2013
dbSNP: rs1114167628
rs1114167628
PTEN
0.925 0.080 10 87961033 stop gained -/ATATCTAG delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1564801473
rs1564801473
PTEN ; KLLN
1.000 0.040 10 87864406 5 prime UTR variant -/C delins
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 1.000 1 2019 2019
dbSNP: rs878853933
rs878853933
PTEN
1.000 0.080 10 87894076 frameshift variant -/C delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs1114167638
rs1114167638
PTEN
10 87961083 frameshift variant -/CA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1554825206
rs1554825206
PTEN
1.000 0.080 10 87957938 frameshift variant -/CA ins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		0.700 0
dbSNP: rs786203477
rs786203477
PTEN
10 87894025 frameshift variant -/CT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1554825530
rs1554825530
PTEN
0.790 0.160 10 87960957 frameshift variant -/CT;TTCT ins
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		0.700 0
dbSNP: rs1554825530
rs1554825530
PTEN
0.790 0.160 10 87960957 frameshift variant -/CT;TTCT ins
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		0.700 0
dbSNP: rs1554825530
rs1554825530
PTEN
0.790 0.160 10 87960957 frameshift variant -/CT;TTCT ins
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.700 0
dbSNP: rs1554825530
rs1554825530
PTEN
0.790 0.160 10 87960957 frameshift variant -/CT;TTCT ins
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		0.700 0
dbSNP: rs1554825530
rs1554825530
PTEN
0.790 0.160 10 87960957 frameshift variant -/CT;TTCT ins
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		0.700 0