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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
NM_000277.1:c.1A>G
XM_011538422.1:c.1A>G
NM_001354304.1:c.1A>G
XM_017019370.2:c.1A>G
NM_000277.3:c.1A>G
ENST00000307000.7:c.-147A>G
NM_000277.1:c.1A>G
XM_011538422.1:c.1A>G
NM_001354304.1:c.1A>G
XM_017019370.2:c.1A>G
NM_000277.3:c.1A>G
ENST00000307000.7:c.-147A>G
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PP4_Moderate, PM2, PM3, PS3
Pathogenic
Evidence Links 2
NM_000277.2:c.806delT
NM_000277.1:c.806del
XM_011538422.1:c.806del
NM_000277.2:c.806del
NM_001354304.1:c.806del
NM_000277.3:c.806del
ENST00000307000.7:c.791del
NM_000277.1:c.806del
XM_011538422.1:c.806del
NM_000277.2:c.806del
NM_001354304.1:c.806del
NM_000277.3:c.806del
ENST00000307000.7:c.791del
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PP4, PM2, PVS1
Pathogenic
Evidence Links 1
NM_000277.2:c.561G>A
NM_000277.1:c.561G>A
XM_011538422.1:c.561G>A
NM_001354304.1:c.561G>A
XM_017019370.2:c.561G>A
NM_000277.3:c.561G>A
ENST00000307000.7:c.546G>A
NM_000277.1:c.561G>A
XM_011538422.1:c.561G>A
NM_001354304.1:c.561G>A
XM_017019370.2:c.561G>A
NM_000277.3:c.561G>A
ENST00000307000.7:c.546G>A
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PP4_Moderate, PM2, PVS1
Pathogenic
Evidence Links 1
NM_000277.2:c.503delA
NM_000277.1:c.503del
XM_011538422.1:c.503del
NM_000277.2:c.503del
NM_001354304.1:c.503del
XM_017019370.2:c.503del
NM_000277.3:c.503del
NM_000277.1:c.503del
XM_011538422.1:c.503del
NM_000277.2:c.503del
NM_001354304.1:c.503del
XM_017019370.2:c.503del
NM_000277.3:c.503del
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PP4, PM2, PVS1
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
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PP4, PM2, PVS1
Pathogenic
Evidence Links 1
NM_000277.2:c.1055delG
NM_000277.1:c.1055del
XM_011538422.1:c.998del
NM_000277.2:c.1055del
NM_001354304.1:c.1055del
NM_000277.3:c.1055del
ENST00000307000.7:c.1040del
NM_000277.1:c.1055del
XM_011538422.1:c.998del
NM_000277.2:c.1055del
NM_001354304.1:c.1055del
NM_000277.3:c.1055del
ENST00000307000.7:c.1040del
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PP4, PM2, PVS1
Pathogenic
Evidence Links 1
NM_000277.2:c.1024delG
NM_000277.1:c.1024del
XM_011538422.1:c.967del
NM_000277.2:c.1024del
NM_001354304.1:c.1024del
NM_000277.3:c.1024del
ENST00000307000.7:c.1009del
NM_000277.1:c.1024del
XM_011538422.1:c.967del
NM_000277.2:c.1024del
NM_001354304.1:c.1024del
NM_000277.3:c.1024del
ENST00000307000.7:c.1009del
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PP4_Moderate, PM2, PVS1
Pathogenic
Evidence Links 1
NM_000277.2:c.912+1G>A
NM_000277.1:c.912+1G>A
XM_011538422.1:c.912+1G>A
NM_001354304.1:c.912+1G>A
NM_000277.3:c.912+1G>A
ENST00000307000.7:c.897+1G>A
ENST00000549247.6:n.671+1G>A
NM_000277.1:c.912+1G>A
XM_011538422.1:c.912+1G>A
NM_001354304.1:c.912+1G>A
NM_000277.3:c.912+1G>A
ENST00000307000.7:c.897+1G>A
ENST00000549247.6:n.671+1G>A
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PP4, PM2, PVS1
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
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PP4_Moderate, PM3_Very Strong, PVS1
Pathogenic
Evidence Links 5
NM_000277.2:c.472C>T
NM_000277.1:c.472C>T
XM_011538422.1:c.472C>T
NM_001354304.1:c.472C>T
XM_017019370.2:c.472C>T
NM_000277.3:c.472C>T
ENST00000307000.7:c.457C>T
NM_000277.1:c.472C>T
XM_011538422.1:c.472C>T
NM_001354304.1:c.472C>T
XM_017019370.2:c.472C>T
NM_000277.3:c.472C>T
ENST00000307000.7:c.457C>T
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PP4_Moderate, PP3, PM3_Strong, PM2, PS3
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
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PP4_Moderate, PM3_Strong, PM2, PVS1
Pathogenic
Evidence Links 2
NM_000277.2:c.169G>A
NM_000277.1:c.169G>A
XM_011538422.1:c.169G>A
NM_001354304.1:c.169G>A
XM_017019370.2:c.169G>A
NM_000277.3:c.169G>A
ENST00000307000.7:c.154G>A
NM_000277.1:c.169G>A
XM_011538422.1:c.169G>A
NM_001354304.1:c.169G>A
XM_017019370.2:c.169G>A
NM_000277.3:c.169G>A
ENST00000307000.7:c.154G>A
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PP4_Moderate, PM2, PM3_Supporting
Uncertain Significance
Evidence Links 1
NM_000277.2:c.581T>C
NM_000277.1:c.581T>C
XM_011538422.1:c.581T>C
NM_001354304.1:c.581T>C
XM_017019370.2:c.581T>C
NM_000277.3:c.581T>C
ENST00000307000.7:c.566T>C
NM_000277.1:c.581T>C
XM_011538422.1:c.581T>C
NM_001354304.1:c.581T>C
XM_017019370.2:c.581T>C
NM_000277.3:c.581T>C
ENST00000307000.7:c.566T>C
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PP4_Moderate, PP3, PM3_Strong, PM2
Likely Pathogenic
Evidence Links 4
NM_000277.2:c.533A>G
NM_000277.1:c.533A>G
XM_011538422.1:c.533A>G
NM_001354304.1:c.533A>G
XM_017019370.2:c.533A>G
NM_000277.3:c.533A>G
ENST00000307000.7:c.518A>G
NM_000277.1:c.533A>G
XM_011538422.1:c.533A>G
NM_001354304.1:c.533A>G
XM_017019370.2:c.533A>G
NM_000277.3:c.533A>G
ENST00000307000.7:c.518A>G
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PP4_Moderate, PP3, PM3_Strong, PM2, PS3
Pathogenic
Evidence Links 3
NM_000277.2:c.1242C>T
NM_000277.1:c.1242C>T
XM_011538422.1:c.1185C>T
NM_001354304.1:c.1242C>T
NM_000277.3:c.1242C>T
ENST00000307000.7:c.1227C>T
ENST00000551114.2:n.904C>T
NM_000277.1:c.1242C>T
XM_011538422.1:c.1185C>T
NM_001354304.1:c.1242C>T
NM_000277.3:c.1242C>T
ENST00000307000.7:c.1227C>T
ENST00000551114.2:n.904C>T
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
Evidence Links 0
NM_000277.2:c.355C>T
NM_000277.1:c.355C>T
XM_011538422.1:c.355C>T
NM_001354304.1:c.355C>T
XM_017019370.2:c.355C>T
NM_000277.3:c.355C>T
ENST00000307000.7:c.340C>T
NM_000277.1:c.355C>T
XM_011538422.1:c.355C>T
NM_001354304.1:c.355C>T
XM_017019370.2:c.355C>T
NM_000277.3:c.355C>T
ENST00000307000.7:c.340C>T
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PP4_Moderate, PP3, PM3_Strong
Likely Pathogenic
Evidence Links 2
NM_000277.2:c.299A>G
NM_000277.1:c.299A>G
XM_011538422.1:c.299A>G
NM_001354304.1:c.299A>G
XM_017019370.2:c.299A>G
NM_000277.3:c.299A>G
ENST00000307000.7:c.284A>G
NM_000277.1:c.299A>G
XM_011538422.1:c.299A>G
NM_001354304.1:c.299A>G
XM_017019370.2:c.299A>G
NM_000277.3:c.299A>G
ENST00000307000.7:c.284A>G
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
BP4, PP4, PM3
Uncertain Significance
Evidence Links 1
NM_000277.1:c.772C>T
XM_011538422.1:c.772C>T
NM_000277.2:c.772C>T
NM_001354304.1:c.772C>T
NM_000277.3:c.772C>T
ENST00000307000.7:c.757C>T
ENST00000549247.6:n.531C>T
XM_011538422.1:c.772C>T
NM_000277.2:c.772C>T
NM_001354304.1:c.772C>T
NM_000277.3:c.772C>T
ENST00000307000.7:c.757C>T
ENST00000549247.6:n.531C>T
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
BP7, BS1
Likely Benign
Evidence Links 0
NM_000277.2:c.963C>T
NM_000277.1:c.963C>T
XM_011538422.1:c.913-2470C>T
NM_001354304.1:c.963C>T
NM_000277.3:c.963C>T
ENST00000307000.7:c.948C>T
ENST00000549247.6:n.722C>T
NM_000277.1:c.963C>T
XM_011538422.1:c.913-2470C>T
NM_001354304.1:c.963C>T
NM_000277.3:c.963C>T
ENST00000307000.7:c.948C>T
ENST00000549247.6:n.722C>T
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
BP7, BS3_Supporting, BS1, BS2
Benign
Evidence Links 0
NM_000277.2:c.500A>G
NM_000277.1:c.500A>G
XM_011538422.1:c.500A>G
NM_001354304.1:c.500A>G
XM_017019370.2:c.500A>G
NM_000277.3:c.500A>G
ENST00000307000.7:c.485A>G
NM_000277.1:c.500A>G
XM_011538422.1:c.500A>G
NM_001354304.1:c.500A>G
XM_017019370.2:c.500A>G
NM_000277.3:c.500A>G
ENST00000307000.7:c.485A>G
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PP4, BS1
Uncertain Significance
Evidence Links 1
NM_000277.2:c.464G>C
NM_000277.1:c.464G>C
XM_011538422.1:c.464G>C
NM_001354304.1:c.464G>C
XM_017019370.2:c.464G>C
NM_000277.3:c.464G>C
ENST00000307000.7:c.449G>C
NM_000277.1:c.464G>C
XM_011538422.1:c.464G>C
NM_001354304.1:c.464G>C
XM_017019370.2:c.464G>C
NM_000277.3:c.464G>C
ENST00000307000.7:c.449G>C
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PP4_Moderate, PP3, PM2, PM3
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
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PP4_Moderate, PP3, PM3_Strong, PM2
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
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PP4_Moderate, PM3, BS1
Uncertain Significance
Evidence Links 2
NM_000277.2:c.535T>A
NM_000277.1:c.535T>A
XM_011538422.1:c.535T>A
NM_001354304.1:c.535T>A
XM_017019370.2:c.535T>A
NM_000277.3:c.535T>A
ENST00000307000.7:c.520T>A
NM_000277.1:c.535T>A
XM_011538422.1:c.535T>A
NM_001354304.1:c.535T>A
XM_017019370.2:c.535T>A
NM_000277.3:c.535T>A
ENST00000307000.7:c.520T>A
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PP4_Moderate, PP3, PM2, PM3
Likely Pathogenic
Evidence Links 1
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