PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs886041877
rs886041877 		1.000 10 87894025 missense variant A/C;G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 14 2001 2015
dbSNP: rs886041877
rs886041877 		1.000 10 87894025 missense variant A/C;G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 14 2001 2015
dbSNP: rs886041877
rs886041877 		1.000 10 87894025 missense variant A/C;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 14 2001 2015
dbSNP: rs886041877
rs886041877 		1.000 10 87894025 missense variant A/C;G snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 14 2001 2015
dbSNP: rs398123317
rs398123317 		0.790 0.160 10 87925550 missense variant T/A;C;G snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 13 1998 2015
dbSNP: rs876660634
rs876660634 		0.807 0.200 10 87925551 missense variant A/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 13 1997 2017
dbSNP: rs587782350
rs587782350 		0.776 0.160 10 87957955 missense variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 12 1999 2017
dbSNP: rs1554900534
rs1554900534 		1.000 0.080 10 87952133 missense variant A/C;G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 11 1997 2013
dbSNP: rs1057519724
rs1057519724 		1.000 0.080 10 87933236 missense variant G/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 10 2004 2012
dbSNP: rs121909219
rs121909219 		0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 10 2004 2012
dbSNP: rs121913289
rs121913289 		1.000 0.080 10 87958013 frameshift variant A/- delins
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 10 2004 2012
dbSNP: rs587782350
rs587782350 		0.776 0.160 10 87957955 missense variant C/T snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 1999 2017
dbSNP: rs786201044
rs786201044 		0.827 0.200 10 87933165 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 2000 2014
dbSNP: rs121909231
rs121909231 		0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 9 1997 2015
dbSNP: rs121909238
rs121909238 		0.925 0.240 10 87933037 missense variant A/C;G snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 9 2005 2018
dbSNP: rs121909241
rs121909241 		0.790 0.160 10 87933154 missense variant G/A;T snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 9 2006 2017
dbSNP: rs786204900
rs786204900 		1.000 0.080 10 87933246 frameshift variant AA/-;A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 9 2002 2017
dbSNP: rs876661024
rs876661024 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 9 1998 2017
dbSNP: rs1060500126
rs1060500126 		0.790 0.160 10 87933223 missense variant A/C;G snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 2000 2016
dbSNP: rs121909219
rs121909219 		0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 1997 2014
dbSNP: rs121909219
rs121909219 		0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 1997 2017
dbSNP: rs121909231
rs121909231 		0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.730 1.000 8 1997 2015
dbSNP: rs121909231
rs121909231 		0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.720 1.000 8 1997 2015
dbSNP: rs587782343
rs587782343 		0.851 0.200 10 87933073 missense variant G/A snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.080 1.000 8 2004 2019
dbSNP: rs587782350
rs587782350 		0.776 0.160 10 87957955 missense variant C/T snv
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 8 1999 2017