The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Keyword Search Parameters
Keyword(s): PTEN
In any of these fields: Gene
Uuid: 835a14e6-4a41-47df-a1ff-271c872adf39
NM_000314.6:c.737C>T
NM_000314.5:c.737C>T
NM_001304717.2:c.1256C>T
NM_001304718.1:c.146C>T
XM_006717926.2:c.692C>T
XM_011539981.1:c.737C>T
XM_011539982.1:c.641C>T
NM_000314.5:c.737C>T
NM_001304717.2:c.1256C>T
NM_001304718.1:c.146C>T
XM_006717926.2:c.692C>T
XM_011539981.1:c.737C>T
XM_011539982.1:c.641C>T
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Pathogenic
Evidence Links 0
Uuid: 8c50af60-fe53-4c9b-b60a-3735d21c8645
NM_000314.6:c.-1170C>T
NC_000010.11:g.87863299C>T
CM000672.2:g.87863299C>T
NC_000010.10:g.89623056C>T
CM000672.1:g.89623056C>T
NC_000010.9:g.89613036C>T
NG_007466.2:g.4862C>T
NC_000010.11:g.87863299C>T
CM000672.2:g.87863299C>T
NC_000010.10:g.89623056C>T
CM000672.1:g.89623056C>T
NC_000010.9:g.89613036C>T
NG_007466.2:g.4862C>T
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Likely Benign
Evidence Links 0
Uuid: 049d3e03-b5ad-4a47-92e9-ee077179049a
NM_000314.6:c.209+3A>T
NC_000010.11:g.87925560A>T
CM000672.2:g.87925560A>T
NC_000010.10:g.89685317A>T
CM000672.1:g.89685317A>T
NC_000010.9:g.89675297A>T
NG_007466.2:g.67122A>T
NC_000010.11:g.87925560A>T
CM000672.2:g.87925560A>T
NC_000010.10:g.89685317A>T
CM000672.1:g.89685317A>T
NC_000010.9:g.89675297A>T
NG_007466.2:g.67122A>T
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Uncertain Significance
Evidence Links 0
Uuid: 0340272b-ab4c-4672-94b8-40e0525d8eda
NM_000314.6:c.235G>A
NM_000314.5:c.235G>A
NM_001304717.2:c.754G>A
NM_001304718.1:c.-516G>A
XM_006717926.2:c.190G>A
XM_011539981.1:c.235G>A
XM_011539982.1:c.139G>A
NM_000314.5:c.235G>A
NM_001304717.2:c.754G>A
NM_001304718.1:c.-516G>A
XM_006717926.2:c.190G>A
XM_011539981.1:c.235G>A
XM_011539982.1:c.139G>A
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Likely Benign
Evidence Links 0
Uuid: 742e08c9-7bda-4006-95f1-22f34ec0d9e1
NM_000314.6:c.304_306dupAAA
NC_000010.11:g.87933063_87933065dup
CM000672.2:g.87933063_87933065dup
NC_000010.10:g.89692820_89692822dup
CM000672.1:g.89692820_89692822dup
NC_000010.9:g.89682800_89682802dup
NG_007466.2:g.74625_74627dup
NC_000010.11:g.87933063_87933065dup
CM000672.2:g.87933063_87933065dup
NC_000010.10:g.89692820_89692822dup
CM000672.1:g.89692820_89692822dup
NC_000010.9:g.89682800_89682802dup
NG_007466.2:g.74625_74627dup
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Uncertain Significance
Evidence Links 0
Uuid: ba4a2bab-161e-445b-a38c-7ef4639e08a9
NM_000314.6:c.1052_1054delTAG
NC_000010.11:g.87965312_87965314del
CM000672.2:g.87965312_87965314del
NC_000010.10:g.89725069_89725071del
CM000672.1:g.89725069_89725071del
NC_000010.9:g.89715049_89715051del
NG_007466.2:g.106874_106876del
NC_000010.11:g.87965312_87965314del
CM000672.2:g.87965312_87965314del
NC_000010.10:g.89725069_89725071del
CM000672.1:g.89725069_89725071del
NC_000010.9:g.89715049_89715051del
NG_007466.2:g.106874_106876del
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Uncertain Significance
Evidence Links 1
Uuid: 2353f24f-8466-46ea-838d-a36a749f6a49
NM_000314.6:c.1171C>T
NC_000010.11:g.87965431C>T
CM000672.2:g.87965431C>T
NC_000010.10:g.89725188C>T
CM000672.1:g.89725188C>T
NC_000010.9:g.89715168C>T
NG_007466.2:g.106993C>T
NC_000010.11:g.87965431C>T
CM000672.2:g.87965431C>T
NC_000010.10:g.89725188C>T
CM000672.1:g.89725188C>T
NC_000010.9:g.89715168C>T
NG_007466.2:g.106993C>T
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Uncertain Significance
Evidence Links 3
Uuid: 1c091a56-7fdb-41a4-9573-e48254ef08b7
NM_000314.6:c.-764G>A
NC_000010.11:g.87863705G>A
CM000672.2:g.87863705G>A
NC_000010.10:g.89623462G>A
CM000672.1:g.89623462G>A
NC_000010.9:g.89613442G>A
NG_007466.2:g.5268G>A
NC_000010.11:g.87863705G>A
CM000672.2:g.87863705G>A
NC_000010.10:g.89623462G>A
CM000672.1:g.89623462G>A
NC_000010.9:g.89613442G>A
NG_007466.2:g.5268G>A
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Uncertain Significance
Evidence Links 0
Uuid: 9b8faad8-e78a-4d2f-8805-210367466752
NM_000314.6:c.44G>A
NC_000010.11:g.87864513G>A
CM000672.2:g.87864513G>A
NC_000010.10:g.89624270G>A
CM000672.1:g.89624270G>A
NC_000010.9:g.89614250G>A
NG_007466.2:g.6075G>A
NC_000010.11:g.87864513G>A
CM000672.2:g.87864513G>A
NC_000010.10:g.89624270G>A
CM000672.1:g.89624270G>A
NC_000010.9:g.89614250G>A
NG_007466.2:g.6075G>A
Criteria Specification:ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTEN Version 3.1.0
Version: 3.1.0
Likely Pathogenic
Evidence Links 2
Uuid: 5ae8d67a-b184-476c-878e-aef6ec246a56
NM_000314.6:c.78C>T
NC_000010.11:g.87864547C>T
CM000672.2:g.87864547C>T
NC_000010.10:g.89624304C>T
CM000672.1:g.89624304C>T
NC_000010.9:g.89614284C>T
NG_007466.2:g.6109C>T
NC_000010.11:g.87864547C>T
CM000672.2:g.87864547C>T
NC_000010.10:g.89624304C>T
CM000672.1:g.89624304C>T
NC_000010.9:g.89614284C>T
NG_007466.2:g.6109C>T
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Uncertain Significance
Evidence Links 1
Uuid: 8c8c1292-baf8-4fcd-abbf-e22a7793a5dd
NM_000314.8:c.165-1G>A
NC_000010.11:g.87925512G>A
CM000672.2:g.87925512G>A
NC_000010.10:g.89685269G>A
CM000672.1:g.89685269G>A
NC_000010.9:g.89675249G>A
NG_007466.2:g.67074G>A
NC_000010.11:g.87925512G>A
CM000672.2:g.87925512G>A
NC_000010.10:g.89685269G>A
CM000672.1:g.89685269G>A
NC_000010.9:g.89675249G>A
NG_007466.2:g.67074G>A
Criteria Specification:ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTEN Version 3.1.0
Version: 3.1.0
Likely Pathogenic
Evidence Links 0
Uuid: 2f607d68-ce7c-4110-9640-98a0992a2d02
NM_000314.6:c.80-1G>C
NC_000010.11:g.87894024G>C
CM000672.2:g.87894024G>C
NC_000010.10:g.89653781G>C
CM000672.1:g.89653781G>C
NC_000010.9:g.89643761G>C
NG_007466.2:g.35586G>C
NC_000010.11:g.87894024G>C
CM000672.2:g.87894024G>C
NC_000010.10:g.89653781G>C
CM000672.1:g.89653781G>C
NC_000010.9:g.89643761G>C
NG_007466.2:g.35586G>C
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Likely Pathogenic
Evidence Links 0
Uuid: e41ad782-4c9c-4ae6-ba02-ec2e11c967fc
NM_000314.6:c.987_990delTAAA
NM_000314.5:c.987_990del
NM_000314.6:c.987_990del
NM_001304717.2:c.1506_1509del
NM_001304718.1:c.396_399del
XM_006717926.2:c.942_945del
XM_011539981.1:c.987_990del
NM_000314.5:c.987_990del
NM_000314.6:c.987_990del
NM_001304717.2:c.1506_1509del
NM_001304718.1:c.396_399del
XM_006717926.2:c.942_945del
XM_011539981.1:c.987_990del
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Pathogenic
Evidence Links 0
Uuid: f890d81d-90ed-4411-a0fd-a89669dd616a
NM_000314.6:c.892C>T
NC_000010.11:g.87960984C>T
CM000672.2:g.87960984C>T
NC_000010.10:g.89720741C>T
CM000672.1:g.89720741C>T
NC_000010.9:g.89710721C>T
NG_007466.2:g.102546C>T
NC_000010.11:g.87960984C>T
CM000672.2:g.87960984C>T
NC_000010.10:g.89720741C>T
CM000672.1:g.89720741C>T
NC_000010.9:g.89710721C>T
NG_007466.2:g.102546C>T
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Pathogenic
Evidence Links 0
Uuid: bfdfbf81-6f26-43f8-aa4b-bbb17ebaf54a
NM_000314.6:c.964A>T
NC_000010.11:g.87961056A>T
CM000672.2:g.87961056A>T
NC_000010.10:g.89720813A>T
CM000672.1:g.89720813A>T
NC_000010.9:g.89710793A>T
NG_007466.2:g.102618A>T
NC_000010.11:g.87961056A>T
CM000672.2:g.87961056A>T
NC_000010.10:g.89720813A>T
CM000672.1:g.89720813A>T
NC_000010.9:g.89710793A>T
NG_007466.2:g.102618A>T
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Likely Pathogenic
Evidence Links 0
Uuid: 276b536d-e9cf-488e-a7bf-d2d8d0b119b6
NM_000314.6:c.511C>T
NM_000314.5:c.511C>T
NM_001304717.2:c.1030C>T
NM_001304718.1:c.-81C>T
XM_006717926.2:c.466C>T
XM_011539981.1:c.511C>T
XM_011539982.1:c.415C>T
NM_000314.5:c.511C>T
NM_001304717.2:c.1030C>T
NM_001304718.1:c.-81C>T
XM_006717926.2:c.466C>T
XM_011539981.1:c.511C>T
XM_011539982.1:c.415C>T
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Pathogenic
Evidence Links 0
Uuid: 2b40684d-92f4-40ce-8062-ffd5a0278fbd
NM_000314.6:c.50_51delAA
NM_000314.5:c.50_51del
NM_000314.6:c.50_51del
NM_001304717.2:c.569_570del
NM_001304718.1:c.-656_-655del
XM_006717926.2:c.50_51del
XM_011539981.1:c.50_51del
NM_000314.5:c.50_51del
NM_000314.6:c.50_51del
NM_001304717.2:c.569_570del
NM_001304718.1:c.-656_-655del
XM_006717926.2:c.50_51del
XM_011539981.1:c.50_51del
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Pathogenic
Evidence Links 1
Uuid: 30a41c35-daf4-47cc-b83c-ccf0c557f631
NM_000314.6:c.1026+32T>G
NC_000010.11:g.87961150T>G
CM000672.2:g.87961150T>G
NC_000010.10:g.89720907T>G
CM000672.1:g.89720907T>G
NC_000010.9:g.89710887T>G
NG_007466.2:g.102712T>G
NC_000010.11:g.87961150T>G
CM000672.2:g.87961150T>G
NC_000010.10:g.89720907T>G
CM000672.1:g.89720907T>G
NC_000010.9:g.89710887T>G
NG_007466.2:g.102712T>G
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Benign
Evidence Links 0
Uuid: 742d7bc7-fc1a-47ac-b7fb-3be400cfe09f
NM_000314.6:c.801+23G>A
NM_000314.5:c.801+23G>A
NM_001304717.2:c.1320+23G>A
NM_001304718.1:c.210+23G>A
XM_006717926.2:c.756+23G>A
XM_011539981.1:c.801+23G>A
XM_011539982.1:c.705+23G>A
NM_000314.5:c.801+23G>A
NM_001304717.2:c.1320+23G>A
NM_001304718.1:c.210+23G>A
XM_006717926.2:c.756+23G>A
XM_011539981.1:c.801+23G>A
XM_011539982.1:c.705+23G>A
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Likely Benign
Evidence Links 0
Uuid: e0072965-9b20-4fa8-bfab-2ec93223849b
NM_000314.6:c.254-39G>T
NC_000010.11:g.87932974G>T
CM000672.2:g.87932974G>T
NC_000010.10:g.89692731G>T
CM000672.1:g.89692731G>T
NC_000010.9:g.89682711G>T
NG_007466.2:g.74536G>T
NC_000010.11:g.87932974G>T
CM000672.2:g.87932974G>T
NC_000010.10:g.89692731G>T
CM000672.1:g.89692731G>T
NC_000010.9:g.89682711G>T
NG_007466.2:g.74536G>T
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Likely Benign
Evidence Links 0
Uuid: a81bf7b8-305b-4704-bf65-95e6aa54b5ba
NM_000314.6:c.165-13_165-10delGTTT
NC_000010.11:g.87925500_87925503del
CM000672.2:g.87925500_87925503del
NC_000010.10:g.89685257_89685260del
CM000672.1:g.89685257_89685260del
NC_000010.9:g.89675237_89675240del
NG_007466.2:g.67062_67065del
NC_000010.11:g.87925500_87925503del
CM000672.2:g.87925500_87925503del
NC_000010.10:g.89685257_89685260del
CM000672.1:g.89685257_89685260del
NC_000010.9:g.89675237_89675240del
NG_007466.2:g.67062_67065del
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Likely Benign
Evidence Links 0
Uuid: e71dcbfe-0aed-4400-9ea2-5ec0ef78a666
NM_000314.6:c.493-2A>G
NC_000010.11:g.87952116A>G
CM000672.2:g.87952116A>G
NC_000010.10:g.89711873A>G
CM000672.1:g.89711873A>G
NC_000010.9:g.89701853A>G
NG_007466.2:g.93678A>G
NC_000010.11:g.87952116A>G
CM000672.2:g.87952116A>G
NC_000010.10:g.89711873A>G
CM000672.1:g.89711873A>G
NC_000010.9:g.89701853A>G
NG_007466.2:g.93678A>G
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Pathogenic
Evidence Links 0
Uuid: e8d81f24-56b8-4bfb-82c1-e3c4bb305db9
NM_000314.6:c.79+35C>T
NC_000010.11:g.87864583C>T
CM000672.2:g.87864583C>T
NC_000010.10:g.89624340C>T
CM000672.1:g.89624340C>T
NC_000010.9:g.89614320C>T
NG_007466.2:g.6145C>T
NC_000010.11:g.87864583C>T
CM000672.2:g.87864583C>T
NC_000010.10:g.89624340C>T
CM000672.1:g.89624340C>T
NC_000010.9:g.89614320C>T
NG_007466.2:g.6145C>T
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Benign
Evidence Links 0
Uuid: 044a4a6a-4939-4e73-8b9d-ff941b58e27d
NM_000314.6:c.1104T>C
NM_000314.5:c.1104T>C
NM_001304717.2:c.1623T>C
NM_001304718.1:c.513T>C
XM_006717926.2:c.1059T>C
XM_011539982.1:c.1008T>C
XR_945791.1:n.1674T>C
NM_000314.5:c.1104T>C
NM_001304717.2:c.1623T>C
NM_001304718.1:c.513T>C
XM_006717926.2:c.1059T>C
XM_011539982.1:c.1008T>C
XR_945791.1:n.1674T>C
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Likely Benign
Evidence Links 0
Uuid: 53c09c9e-b77c-4949-8aef-58bcb3346e87
NM_000314.6:c.360A>C
NC_000010.11:g.87933119A>C
CM000672.2:g.87933119A>C
NC_000010.10:g.89692876A>C
CM000672.1:g.89692876A>C
NC_000010.9:g.89682856A>C
NG_007466.2:g.74681A>C
NC_000010.11:g.87933119A>C
CM000672.2:g.87933119A>C
NC_000010.10:g.89692876A>C
CM000672.1:g.89692876A>C
NC_000010.9:g.89682856A>C
NG_007466.2:g.74681A>C
Criteria Specification: ACMG-PTEN Variant Curation Guideline
Likely Benign
Evidence Links 0
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