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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:
PS3, PP4_Moderate, PM3, PM2
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:
PVS1, PP4, PM2
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:
PVS1, PP4_Moderate, PM2
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:
PVS1, PP4, PM2
Pathogenic
Evidence Links 1
NM_000277.2:c.1089delG
NM_000277.1:c.1089del
XM_011538422.1:c.1032del
NM_000277.2:c.1089del
NM_001354304.1:c.1089del
NM_000277.3:c.1089del
ENST00000307000.7:c.1074del
NM_000277.1:c.1089del
XM_011538422.1:c.1032del
NM_000277.2:c.1089del
NM_001354304.1:c.1089del
NM_000277.3:c.1089del
ENST00000307000.7:c.1074del
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PVS1, PP4, PM2
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:
PVS1, PP4, PM2
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:
PVS1, PP4_Moderate, PM2
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:
PVS1, PP4, PM2
Pathogenic
Evidence Links 1
NM_000277.2:c.331C>T
NM_000277.1:c.331C>T
XM_011538422.1:c.331C>T
NM_001354304.1:c.331C>T
XM_017019370.2:c.331C>T
NM_000277.3:c.331C>T
ENST00000307000.7:c.316C>T
NM_000277.1:c.331C>T
XM_011538422.1:c.331C>T
NM_001354304.1:c.331C>T
XM_017019370.2:c.331C>T
NM_000277.3:c.331C>T
ENST00000307000.7:c.316C>T
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PVS1, PM3_Very Strong, PP4_Moderate
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:
PM3_Strong, PS3, PP3, PP4_Moderate, PM2
Pathogenic
Evidence Links 5
NM_000277.2:c.526C>T
NM_000277.1:c.526C>T
XM_011538422.1:c.526C>T
NM_001354304.1:c.526C>T
XM_017019370.2:c.526C>T
NM_000277.3:c.526C>T
ENST00000307000.7:c.511C>T
NM_000277.1:c.526C>T
XM_011538422.1:c.526C>T
NM_001354304.1:c.526C>T
XM_017019370.2:c.526C>T
NM_000277.3:c.526C>T
ENST00000307000.7:c.511C>T
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PVS1, PM3_Strong, PP4_Moderate, PM2
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:
PM3_Supporting, PP4_Moderate, PM2
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:
PM3_Strong, PP3, PP4_Moderate, 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:
PM3_Strong, PS3, PP3, PP4_Moderate, PM2
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
NM_000277.1:c.1278T>C
XM_011538422.1:c.1221T>C
NM_001354304.1:c.1278T>C
NM_000277.3:c.1278T>C
ENST00000307000.7:c.1263T>C
ENST00000551114.2:n.940T>C
NM_000277.1:c.1278T>C
XM_011538422.1:c.1221T>C
NM_001354304.1:c.1278T>C
NM_000277.3:c.1278T>C
ENST00000307000.7:c.1263T>C
ENST00000551114.2:n.940T>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:
PM3_Strong, PP3, PP4_Moderate
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:
BS1, BP7
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:
BS1, BS2, BS3_Supporting, BP7
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:
BS1, PP4
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:
PP3, PP4_Moderate, PM3, PM2
Likely Pathogenic
Evidence Links 1
NM_000277.2:c.511G>A
NM_000277.1:c.511G>A
XM_011538422.1:c.511G>A
NM_001354304.1:c.511G>A
XM_017019370.2:c.511G>A
NM_000277.3:c.511G>A
ENST00000307000.7:c.496G>A
NM_000277.1:c.511G>A
XM_011538422.1:c.511G>A
NM_001354304.1:c.511G>A
XM_017019370.2:c.511G>A
NM_000277.3:c.511G>A
ENST00000307000.7:c.496G>A
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
PM3_Strong, PP3, PP4_Moderate, PM2
Likely Pathogenic
Evidence Links 2
NM_000277.2:c.158G>A
NM_000277.1:c.158G>A
XM_011538422.1:c.158G>A
NM_001354304.1:c.158G>A
XM_017019370.2:c.158G>A
NM_000277.3:c.158G>A
ENST00000307000.7:c.143G>A
NM_000277.1:c.158G>A
XM_011538422.1:c.158G>A
NM_001354304.1:c.158G>A
XM_017019370.2:c.158G>A
NM_000277.3:c.158G>A
ENST00000307000.7:c.143G>A
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes:
BS1, PP4_Moderate, PM3
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:
PP3, PP4_Moderate, PM2, PM3
Likely Pathogenic
Evidence Links 1
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