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Please note this is a beta version of the ClinGen Evidence Repository. This resource is intended to provide access to variant level evidence used and applied by ClinGen Variant Curation Expert Panels in the classification of variants. In this beta version, the evidence is limited to curation notes and referenced literature (PMIDs).
For general information about ClinGen Expert Panels and Variant Curation please visit: Clinical Domain Working Groups. For specific inquiries regarding a variant classification or evidence curation (e.g. population database queried, segregation counts or other evidence used) or to submit general comments about the evidence repo, please email us.
The resource is undergoing updates and tesing. Should you encounter any issues regarding the data displayed, lack of functionality or other problems, please let us know so we can rectify these accordingly. Your help in this regard is greatly appreciated.
NM_000277.2:c.1A>G
NC_000012.12:g.102917130T>C
CM000674.2:g.102917130T>C
NC_000012.11:g.103310908T>C
CM000674.1:g.103310908T>C
NC_000012.10:g.101835038T>C
NG_008690.1:g.5473A>G
NC_000012.12:g.102917130T>C
CM000674.2:g.102917130T>C
NC_000012.11:g.103310908T>C
CM000674.1:g.103310908T>C
NC_000012.10:g.101835038T>C
NG_008690.1:g.5473A>G
Criteria Specification: ACMG variant classification (PAH)
Pathogenic
Evidence Links 2
NM_000277.2:c.806delT
NC_000012.12:g.102852851del
CM000674.2:g.102852851del
NC_000012.11:g.103246629del
CM000674.1:g.103246629del
NC_000012.10:g.101770759del
NG_008690.1:g.69752del
NC_000012.12:g.102852851del
CM000674.2:g.102852851del
NC_000012.11:g.103246629del
CM000674.1:g.103246629del
NC_000012.10:g.101770759del
NG_008690.1:g.69752del
Criteria Specification: ACMG variant classification (PAH)
Pathogenic
Evidence Links 1
NM_000277.2:c.561G>A
NC_000012.12:g.102855281C>T
CM000674.2:g.102855281C>T
NC_000012.11:g.103249059C>T
CM000674.1:g.103249059C>T
NC_000012.10:g.101773189C>T
NG_008690.1:g.67322G>A
NC_000012.12:g.102855281C>T
CM000674.2:g.102855281C>T
NC_000012.11:g.103249059C>T
CM000674.1:g.103249059C>T
NC_000012.10:g.101773189C>T
NG_008690.1:g.67322G>A
Criteria Specification: ACMG variant classification (PAH)
Pathogenic
Evidence Links 1
NM_000277.2:c.503delA
NC_000012.12:g.102866602del
CM000674.2:g.102866602del
NC_000012.11:g.103260380del
CM000674.1:g.103260380del
NC_000012.10:g.101784510del
NG_008690.1:g.56001del
NC_000012.12:g.102866602del
CM000674.2:g.102866602del
NC_000012.11:g.103260380del
CM000674.1:g.103260380del
NC_000012.10:g.101784510del
NG_008690.1:g.56001del
Criteria Specification: ACMG variant classification (PAH)
Pathogenic
Evidence Links 1
NM_000277.2:c.1089delG
NC_000012.12:g.102843756del
CM000674.2:g.102843756del
NC_000012.11:g.103237534del
CM000674.1:g.103237534del
NC_000012.10:g.101761664del
NG_008690.1:g.78847del
NC_000012.12:g.102843756del
CM000674.2:g.102843756del
NC_000012.11:g.103237534del
CM000674.1:g.103237534del
NC_000012.10:g.101761664del
NG_008690.1:g.78847del
Criteria Specification: ACMG variant classification (PAH)
Pathogenic
Evidence Links 1
NM_000277.2:c.1055delG
NC_000012.12:g.102844347del
CM000674.2:g.102844347del
NC_000012.11:g.103238125del
CM000674.1:g.103238125del
NC_000012.10:g.101762255del
NG_008690.1:g.78257del
NC_000012.12:g.102844347del
CM000674.2:g.102844347del
NC_000012.11:g.103238125del
CM000674.1:g.103238125del
NC_000012.10:g.101762255del
NG_008690.1:g.78257del
Criteria Specification: ACMG variant classification (PAH)
Pathogenic
Evidence Links 1
NM_000277.2:c.1024delG
NC_000012.12:g.102844378del
CM000674.2:g.102844378del
NC_000012.11:g.103238156del
CM000674.1:g.103238156del
NC_000012.10:g.101762286del
NG_008690.1:g.78226del
NC_000012.12:g.102844378del
CM000674.2:g.102844378del
NC_000012.11:g.103238156del
CM000674.1:g.103238156del
NC_000012.10:g.101762286del
NG_008690.1:g.78226del
Criteria Specification: ACMG variant classification (PAH)
Pathogenic
Evidence Links 1
NM_000277.2:c.912+1G>A
NC_000012.12:g.102851686C>T
CM000674.2:g.102851686C>T
NC_000012.11:g.103245464C>T
CM000674.1:g.103245464C>T
NC_000012.10:g.101769594C>T
NG_008690.1:g.70917G>A
NC_000012.12:g.102851686C>T
CM000674.2:g.102851686C>T
NC_000012.11:g.103245464C>T
CM000674.1:g.103245464C>T
NC_000012.10:g.101769594C>T
NG_008690.1:g.70917G>A
Criteria Specification: ACMG variant classification (PAH)
Pathogenic
Evidence Links 1
NM_000277.2:c.331C>T
NC_000012.12:g.102894756G>A
CM000674.2:g.102894756G>A
NC_000012.11:g.103288534G>A
CM000674.1:g.103288534G>A
NC_000012.10:g.101812664G>A
NG_008690.1:g.27847C>T
NC_000012.12:g.102894756G>A
CM000674.2:g.102894756G>A
NC_000012.11:g.103288534G>A
CM000674.1:g.103288534G>A
NC_000012.10:g.101812664G>A
NG_008690.1:g.27847C>T
Criteria Specification: ACMG variant classification (PAH)
Pathogenic
Evidence Links 5
NM_000277.2:c.472C>T
NC_000012.12:g.102866633G>A
CM000674.2:g.102866633G>A
NC_000012.11:g.103260411G>A
CM000674.1:g.103260411G>A
NC_000012.10:g.101784541G>A
NG_008690.1:g.55970C>T
NC_000012.12:g.102866633G>A
CM000674.2:g.102866633G>A
NC_000012.11:g.103260411G>A
CM000674.1:g.103260411G>A
NC_000012.10:g.101784541G>A
NG_008690.1:g.55970C>T
Criteria Specification: ACMG variant classification (PAH)
Pathogenic
Evidence Links 5
NM_000277.2:c.526C>T
NC_000012.12:g.102855316G>A
CM000674.2:g.102855316G>A
NC_000012.11:g.103249094G>A
CM000674.1:g.103249094G>A
NC_000012.10:g.101773224G>A
NG_008690.1:g.67287C>T
NC_000012.12:g.102855316G>A
CM000674.2:g.102855316G>A
NC_000012.11:g.103249094G>A
CM000674.1:g.103249094G>A
NC_000012.10:g.101773224G>A
NG_008690.1:g.67287C>T
Criteria Specification: ACMG variant classification (PAH)
Pathogenic
Evidence Links 2
NM_000277.2:c.169G>A
NC_000012.12:g.102894918C>T
CM000674.2:g.102894918C>T
NC_000012.11:g.103288696C>T
CM000674.1:g.103288696C>T
NC_000012.10:g.101812826C>T
NG_008690.1:g.27685G>A
NC_000012.12:g.102894918C>T
CM000674.2:g.102894918C>T
NC_000012.11:g.103288696C>T
CM000674.1:g.103288696C>T
NC_000012.10:g.101812826C>T
NG_008690.1:g.27685G>A
Criteria Specification: ACMG variant classification (PAH)
Uncertain Significance
Evidence Links 1
NM_000277.2:c.581T>C
NC_000012.12:g.102855261A>G
CM000674.2:g.102855261A>G
NC_000012.11:g.103249039A>G
CM000674.1:g.103249039A>G
NC_000012.10:g.101773169A>G
NG_008690.1:g.67342T>C
NC_000012.12:g.102855261A>G
CM000674.2:g.102855261A>G
NC_000012.11:g.103249039A>G
CM000674.1:g.103249039A>G
NC_000012.10:g.101773169A>G
NG_008690.1:g.67342T>C
Criteria Specification: ACMG variant classification (PAH)
Likely Pathogenic
Evidence Links 4
NM_000277.2:c.533A>G
NC_000012.12:g.102855309T>C
CM000674.2:g.102855309T>C
NC_000012.11:g.103249087T>C
CM000674.1:g.103249087T>C
NC_000012.10:g.101773217T>C
NG_008690.1:g.67294A>G
NC_000012.12:g.102855309T>C
CM000674.2:g.102855309T>C
NC_000012.11:g.103249087T>C
CM000674.1:g.103249087T>C
NC_000012.10:g.101773217T>C
NG_008690.1:g.67294A>G
Criteria Specification: ACMG variant classification (PAH)
Pathogenic
Evidence Links 3
NM_000277.2:c.1242C>T
NC_000012.12:g.102840473G>A
CM000674.2:g.102840473G>A
NC_000012.11:g.103234251G>A
CM000674.1:g.103234251G>A
NC_000012.10:g.101758381G>A
NG_008690.1:g.82130C>T
NC_000012.12:g.102840473G>A
CM000674.2:g.102840473G>A
NC_000012.11:g.103234251G>A
CM000674.1:g.103234251G>A
NC_000012.10:g.101758381G>A
NG_008690.1:g.82130C>T
Criteria Specification: ACMG variant classification (PAH)
Benign
Evidence Links 0
NM_000277.2:c.1278T>C
NC_000012.12:g.102840437A>G
CM000674.2:g.102840437A>G
NC_000012.11:g.103234215A>G
CM000674.1:g.103234215A>G
NC_000012.10:g.101758345A>G
NG_008690.1:g.82166T>C
NC_000012.12:g.102840437A>G
CM000674.2:g.102840437A>G
NC_000012.11:g.103234215A>G
CM000674.1:g.103234215A>G
NC_000012.10:g.101758345A>G
NG_008690.1:g.82166T>C
Criteria Specification: ACMG variant classification (PAH)
Benign
Evidence Links 0
NM_000277.2:c.355C>T
NC_000012.12:g.102877548G>A
CM000674.2:g.102877548G>A
NC_000012.11:g.103271326G>A
CM000674.1:g.103271326G>A
NC_000012.10:g.101795456G>A
NG_008690.1:g.45055C>T
NC_000012.12:g.102877548G>A
CM000674.2:g.102877548G>A
NC_000012.11:g.103271326G>A
CM000674.1:g.103271326G>A
NC_000012.10:g.101795456G>A
NG_008690.1:g.45055C>T
Criteria Specification: ACMG variant classification (PAH)
Likely Pathogenic
Evidence Links 2
NM_000277.2:c.299A>G
NC_000012.12:g.102894788T>C
CM000674.2:g.102894788T>C
NC_000012.11:g.103288566T>C
CM000674.1:g.103288566T>C
NC_000012.10:g.101812696T>C
NG_008690.1:g.27815A>G
NC_000012.12:g.102894788T>C
CM000674.2:g.102894788T>C
NC_000012.11:g.103288566T>C
CM000674.1:g.103288566T>C
NC_000012.10:g.101812696T>C
NG_008690.1:g.27815A>G
Criteria Specification: ACMG variant classification (PAH)
Uncertain Significance
Evidence Links 1
NM_000277.1:c.772C>T
NC_000012.12:g.102852885G>A
CM000674.2:g.102852885G>A
NC_000012.11:g.103246663G>A
CM000674.1:g.103246663G>A
NC_000012.10:g.101770793G>A
NG_008690.1:g.69718C>T
NC_000012.12:g.102852885G>A
CM000674.2:g.102852885G>A
NC_000012.11:g.103246663G>A
CM000674.1:g.103246663G>A
NC_000012.10:g.101770793G>A
NG_008690.1:g.69718C>T
Criteria Specification: ACMG variant classification (PAH)
Likely Benign
Evidence Links 0
NM_000277.2:c.963C>T
NC_000012.12:g.102846901G>A
CM000674.2:g.102846901G>A
NC_000012.11:g.103240679G>A
CM000674.1:g.103240679G>A
NC_000012.10:g.101764809G>A
NG_008690.1:g.75702C>T
NC_000012.12:g.102846901G>A
CM000674.2:g.102846901G>A
NC_000012.11:g.103240679G>A
CM000674.1:g.103240679G>A
NC_000012.10:g.101764809G>A
NG_008690.1:g.75702C>T
Criteria Specification: ACMG variant classification (PAH)
Benign
Evidence Links 0
NM_000277.2:c.500A>G
NC_000012.12:g.102866605T>C
CM000674.2:g.102866605T>C
NC_000012.11:g.103260383T>C
CM000674.1:g.103260383T>C
NC_000012.10:g.101784513T>C
NG_008690.1:g.55998A>G
NC_000012.12:g.102866605T>C
CM000674.2:g.102866605T>C
NC_000012.11:g.103260383T>C
CM000674.1:g.103260383T>C
NC_000012.10:g.101784513T>C
NG_008690.1:g.55998A>G
Criteria Specification: ACMG variant classification (PAH)
Uncertain Significance
Evidence Links 1
NM_000277.2:c.464G>C
NC_000012.12:g.102866641C>G
CM000674.2:g.102866641C>G
NC_000012.11:g.103260419C>G
CM000674.1:g.103260419C>G
NC_000012.10:g.101784549C>G
NG_008690.1:g.55962G>C
NC_000012.12:g.102866641C>G
CM000674.2:g.102866641C>G
NC_000012.11:g.103260419C>G
CM000674.1:g.103260419C>G
NC_000012.10:g.101784549C>G
NG_008690.1:g.55962G>C
Criteria Specification: ACMG variant classification (PAH)
Likely Pathogenic
Evidence Links 1
NM_000277.2:c.511G>A
NC_000012.12:g.102855331C>T
CM000674.2:g.102855331C>T
NC_000012.11:g.103249109C>T
CM000674.1:g.103249109C>T
NC_000012.10:g.101773239C>T
NG_008690.1:g.67272G>A
NC_000012.12:g.102855331C>T
CM000674.2:g.102855331C>T
NC_000012.11:g.103249109C>T
CM000674.1:g.103249109C>T
NC_000012.10:g.101773239C>T
NG_008690.1:g.67272G>A
Criteria Specification: ACMG variant classification (PAH)
Likely Pathogenic
Evidence Links 2
NM_000277.2:c.158G>A
NC_000012.12:g.102912801C>T
CM000674.2:g.102912801C>T
NC_000012.11:g.103306579C>T
CM000674.1:g.103306579C>T
NC_000012.10:g.101830709C>T
NG_008690.1:g.9802G>A
NC_000012.12:g.102912801C>T
CM000674.2:g.102912801C>T
NC_000012.11:g.103306579C>T
CM000674.1:g.103306579C>T
NC_000012.10:g.101830709C>T
NG_008690.1:g.9802G>A
Criteria Specification: ACMG variant classification (PAH)
Uncertain Significance
Evidence Links 2
NM_000277.2:c.535T>A
NC_000012.12:g.102855307A>T
CM000674.2:g.102855307A>T
NC_000012.11:g.103249085A>T
CM000674.1:g.103249085A>T
NC_000012.10:g.101773215A>T
NG_008690.1:g.67296T>A
NC_000012.12:g.102855307A>T
CM000674.2:g.102855307A>T
NC_000012.11:g.103249085A>T
CM000674.1:g.103249085A>T
NC_000012.10:g.101773215A>T
NG_008690.1:g.67296T>A
Criteria Specification: ACMG variant classification (PAH)
Likely Pathogenic
Evidence Links 1
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