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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
ENST00000307000.7:c.-147A>G
ENST00000546844.1:c.1A>G
ENST00000547319.1:n.312A>G
ENST00000549111.5:n.97A>G
ENST00000551337.5:c.1A>G
ENST00000551988.5:n.90A>G
ENST00000307000.7:c.-147A>G
ENST00000546844.1:c.1A>G
ENST00000547319.1:n.312A>G
ENST00000549111.5:n.97A>G
ENST00000551337.5:c.1A>G
ENST00000551988.5:n.90A>G
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PM2, PP4_Moderate, PVS1, PS3
Pathogenic
Evidence Links 2
NM_000277.2:c.806delT
NC_000012.12:g.102852851del
CM000674.2:g.102852851del
NC_000012.10:g.101770759del
NC_000012.11:g.103246629del
CM000674.1:g.103246629del
NG_008690.1:g.69752del
NC_000012.12:g.102852851del
CM000674.2:g.102852851del
NC_000012.10:g.101770759del
NC_000012.11:g.103246629del
CM000674.1:g.103246629del
NG_008690.1:g.69752del
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PP4, PM2, PVS1
Pathogenic
Evidence Links 1
NM_000277.2:c.561G>A
ENST00000307000.7:c.546G>A
ENST00000549111.5:n.657G>A
ENST00000551988.5:n.582G>A
ENST00000553106.5:c.561G>A
NM_000277.1:c.561G>A
XM_011538422.1:c.561G>A
ENST00000307000.7:c.546G>A
ENST00000549111.5:n.657G>A
ENST00000551988.5:n.582G>A
ENST00000553106.5:c.561G>A
NM_000277.1:c.561G>A
XM_011538422.1:c.561G>A
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PM2, PP4_Moderate, PVS1
Pathogenic
Evidence Links 1
NM_000277.2:c.503delA
ENST00000307000.7:c.488del
ENST00000549111.5:n.599del
ENST00000551988.5:n.530+10860del
ENST00000553106.5:c.503del
NM_000277.1:c.503del
XM_011538422.1:c.503del
ENST00000307000.7:c.488del
ENST00000549111.5:n.599del
ENST00000551988.5:n.530+10860del
ENST00000553106.5:c.503del
NM_000277.1:c.503del
XM_011538422.1:c.503del
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PP4, PM2, PVS1
Pathogenic
Evidence Links 1
NM_000277.2:c.1089delG
ENST00000307000.7:c.1074del
ENST00000549247.6:n.848del
ENST00000551114.2:n.751del
ENST00000553106.5:c.1089del
ENST00000635477.1:n.193del
ENST00000635528.1:n.604del
ENST00000307000.7:c.1074del
ENST00000549247.6:n.848del
ENST00000551114.2:n.751del
ENST00000553106.5:c.1089del
ENST00000635477.1:n.193del
ENST00000635528.1:n.604del
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PP4, PM2, PVS1
Pathogenic
Evidence Links 1
NM_000277.2:c.1055delG
ENST00000307000.7:c.1040del
ENST00000549247.6:n.814del
ENST00000551114.2:n.717del
ENST00000553106.5:c.1055del
ENST00000635477.1:n.159del
ENST00000635528.1:n.570del
ENST00000307000.7:c.1040del
ENST00000549247.6:n.814del
ENST00000551114.2:n.717del
ENST00000553106.5:c.1055del
ENST00000635477.1:n.159del
ENST00000635528.1:n.570del
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PP4, PM2, PVS1
Pathogenic
Evidence Links 1
NM_000277.2:c.1024delG
ENST00000307000.7:c.1009del
ENST00000549247.6:n.783del
ENST00000551114.2:n.686del
ENST00000553106.5:c.1024del
ENST00000635477.1:n.128del
ENST00000635528.1:n.539del
ENST00000307000.7:c.1009del
ENST00000549247.6:n.783del
ENST00000551114.2:n.686del
ENST00000553106.5:c.1024del
ENST00000635477.1:n.128del
ENST00000635528.1:n.539del
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PM2, PP4_Moderate, PVS1
Pathogenic
Evidence Links 1
NM_000277.2:c.912+1G>A
ENST00000307000.7:c.897+1G>A
ENST00000549247.6:n.671+1G>A
ENST00000551114.2:n.574+1G>A
ENST00000553106.5:c.912+1G>A
ENST00000635477.1:n.73+1G>A
NM_000277.1:c.912+1G>A
ENST00000307000.7:c.897+1G>A
ENST00000549247.6:n.671+1G>A
ENST00000551114.2:n.574+1G>A
ENST00000553106.5:c.912+1G>A
ENST00000635477.1:n.73+1G>A
NM_000277.1:c.912+1G>A
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PP4, PM2, PVS1
Pathogenic
Evidence Links 1
NM_000277.2:c.331C>T
ENST00000307000.7:c.316C>T
ENST00000546844.1:c.331C>T
ENST00000548928.1:n.253C>T
ENST00000549111.5:n.427C>T
ENST00000550978.6:n.315C>T
ENST00000551337.5:c.331C>T
ENST00000307000.7:c.316C>T
ENST00000546844.1:c.331C>T
ENST00000548928.1:n.253C>T
ENST00000549111.5:n.427C>T
ENST00000550978.6:n.315C>T
ENST00000551337.5:c.331C>T
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PM3, PP4_Moderate, PVS1
Pathogenic
Evidence Links 4
NM_000277.2:c.472C>T
NC_000012.12:g.102866633G>A
CM000674.2:g.102866633G>A
NC_000012.10:g.101784541G>A
NC_000012.11:g.103260411G>A
CM000674.1:g.103260411G>A
NG_008690.1:g.55970C>T
NC_000012.12:g.102866633G>A
CM000674.2:g.102866633G>A
NC_000012.10:g.101784541G>A
NC_000012.11:g.103260411G>A
CM000674.1:g.103260411G>A
NG_008690.1:g.55970C>T
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PP3, PM2, PM3_Strong, PP4_Moderate, PS3
Pathogenic
Evidence Links 5
NM_000277.2:c.526C>T
NC_000012.12:g.102855316G>A
CM000674.2:g.102855316G>A
NC_000012.10:g.101773224G>A
NC_000012.11:g.103249094G>A
CM000674.1:g.103249094G>A
NG_008690.1:g.67287C>T
NC_000012.12:g.102855316G>A
CM000674.2:g.102855316G>A
NC_000012.10:g.101773224G>A
NC_000012.11:g.103249094G>A
CM000674.1:g.103249094G>A
NG_008690.1:g.67287C>T
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PM2, PM3_Strong, PP4_Moderate, PVS1
Pathogenic
Evidence Links 2
NM_000277.2:c.169G>A
NC_000012.12:g.102894918C>T
CM000674.2:g.102894918C>T
NC_000012.10:g.101812826C>T
NC_000012.11:g.103288696C>T
CM000674.1:g.103288696C>T
NG_008690.1:g.27685G>A
NC_000012.12:g.102894918C>T
CM000674.2:g.102894918C>T
NC_000012.10:g.101812826C>T
NC_000012.11:g.103288696C>T
CM000674.1:g.103288696C>T
NG_008690.1:g.27685G>A
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PM2, PM3, PP4_Moderate
Likely Pathogenic
Evidence Links 1
NM_000277.2:c.581T>C
ENST00000307000.7:c.566T>C
ENST00000549111.5:n.677T>C
ENST00000553106.5:c.581T>C
NM_000277.1:c.581T>C
XM_011538422.1:c.581T>C
NM_001354304.1:c.581T>C
ENST00000307000.7:c.566T>C
ENST00000549111.5:n.677T>C
ENST00000553106.5:c.581T>C
NM_000277.1:c.581T>C
XM_011538422.1:c.581T>C
NM_001354304.1:c.581T>C
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PP3, PM2, PM3_Strong, PP4_Moderate
Likely Pathogenic
Evidence Links 4
NM_000277.2:c.533A>G
ENST00000307000.7:c.518A>G
ENST00000549111.5:n.629A>G
ENST00000551988.5:n.554A>G
ENST00000553106.5:c.533A>G
NM_000277.1:c.533A>G
XM_011538422.1:c.533A>G
ENST00000307000.7:c.518A>G
ENST00000549111.5:n.629A>G
ENST00000551988.5:n.554A>G
ENST00000553106.5:c.533A>G
NM_000277.1:c.533A>G
XM_011538422.1:c.533A>G
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PP3, PM2, PM3_Strong, PP4_Moderate, PS3
Pathogenic
Evidence Links 3
NM_000277.2:c.1242C>T
NC_000012.12:g.102840473G>A
CM000674.2:g.102840473G>A
NC_000012.10:g.101758381G>A
NC_000012.11:g.103234251G>A
CM000674.1:g.103234251G>A
NG_008690.1:g.82130C>T
NC_000012.12:g.102840473G>A
CM000674.2:g.102840473G>A
NC_000012.10:g.101758381G>A
NC_000012.11:g.103234251G>A
CM000674.1:g.103234251G>A
NG_008690.1:g.82130C>T
Evidence Links 0
NM_000277.2:c.1278T>C
NC_000012.12:g.102840437A>G
CM000674.2:g.102840437A>G
NC_000012.10:g.101758345A>G
NC_000012.11:g.103234215A>G
CM000674.1:g.103234215A>G
NG_008690.1:g.82166T>C
NC_000012.12:g.102840437A>G
CM000674.2:g.102840437A>G
NC_000012.10:g.101758345A>G
NC_000012.11:g.103234215A>G
CM000674.1:g.103234215A>G
NG_008690.1:g.82166T>C
Evidence Links 0
NM_000277.2:c.355C>T
NC_000012.12:g.102877548G>A
CM000674.2:g.102877548G>A
NC_000012.10:g.101795456G>A
NC_000012.11:g.103271326G>A
CM000674.1:g.103271326G>A
NG_008690.1:g.45055C>T
NC_000012.12:g.102877548G>A
CM000674.2:g.102877548G>A
NC_000012.10:g.101795456G>A
NC_000012.11:g.103271326G>A
CM000674.1:g.103271326G>A
NG_008690.1:g.45055C>T
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PP3, PM3_Strong, PP4_Moderate
Likely Pathogenic
Evidence Links 2
NM_000277.2:c.299A>G
NC_000012.12:g.102894788T>C
CM000674.2:g.102894788T>C
NC_000012.10:g.101812696T>C
NC_000012.11:g.103288566T>C
CM000674.1:g.103288566T>C
NG_008690.1:g.27815A>G
NC_000012.12:g.102894788T>C
CM000674.2:g.102894788T>C
NC_000012.10:g.101812696T>C
NC_000012.11:g.103288566T>C
CM000674.1:g.103288566T>C
NG_008690.1:g.27815A>G
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PP4, PM3, BP4
Uncertain Significance
Evidence Links 1
NC_000012.12:g.102852885G>A
CM000674.2:g.102852885G>A
NC_000012.10:g.101770793G>A
NC_000012.11:g.103246663G>A
CM000674.1:g.103246663G>A
NG_008690.1:g.69718C>T
NG_008690.2:g.110526C>T
CM000674.2:g.102852885G>A
NC_000012.10:g.101770793G>A
NC_000012.11:g.103246663G>A
CM000674.1:g.103246663G>A
NG_008690.1:g.69718C>T
NG_008690.2:g.110526C>T
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
BS1, BP7
Likely Benign
Evidence Links 0
NM_000277.2:c.963C>T
ENST00000307000.7:c.948C>T
ENST00000549247.6:n.722C>T
ENST00000551114.2:n.625C>T
ENST00000553106.5:c.963C>T
ENST00000635477.1:n.74-2470C>T
ENST00000635528.1:n.478C>T
ENST00000307000.7:c.948C>T
ENST00000549247.6:n.722C>T
ENST00000551114.2:n.625C>T
ENST00000553106.5:c.963C>T
ENST00000635477.1:n.74-2470C>T
ENST00000635528.1:n.478C>T
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
BS1, BS2, BP7, BS3_Supporting
Benign
Evidence Links 0
NM_000277.2:c.500A>G
NC_000012.12:g.102866605T>C
CM000674.2:g.102866605T>C
NC_000012.10:g.101784513T>C
NC_000012.11:g.103260383T>C
CM000674.1:g.103260383T>C
NG_008690.1:g.55998A>G
NC_000012.12:g.102866605T>C
CM000674.2:g.102866605T>C
NC_000012.10:g.101784513T>C
NC_000012.11:g.103260383T>C
CM000674.1:g.103260383T>C
NG_008690.1:g.55998A>G
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PP4, BS1
Uncertain Significance
Evidence Links 1
NM_000277.2:c.464G>C
ENST00000307000.7:c.449G>C
ENST00000549111.5:n.560G>C
ENST00000551988.5:n.530+10821G>C
ENST00000553106.5:c.464G>C
NM_000277.1:c.464G>C
XM_011538422.1:c.464G>C
ENST00000307000.7:c.449G>C
ENST00000549111.5:n.560G>C
ENST00000551988.5:n.530+10821G>C
ENST00000553106.5:c.464G>C
NM_000277.1:c.464G>C
XM_011538422.1:c.464G>C
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PP3, PM2, PM3, PP4_Moderate
Likely Pathogenic
Evidence Links 1
NM_000277.2:c.511G>A
ENST00000307000.7:c.496G>A
ENST00000549111.5:n.607G>A
ENST00000551988.5:n.532G>A
ENST00000553106.5:c.511G>A
NM_000277.1:c.511G>A
XM_011538422.1:c.511G>A
ENST00000307000.7:c.496G>A
ENST00000549111.5:n.607G>A
ENST00000551988.5:n.532G>A
ENST00000553106.5:c.511G>A
NM_000277.1:c.511G>A
XM_011538422.1:c.511G>A
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PP3, PM2, PM3_Strong, PP4_Moderate
Likely Pathogenic
Evidence Links 2
NM_000277.2:c.158G>A
NC_000012.12:g.102912801C>T
CM000674.2:g.102912801C>T
NC_000012.10:g.101830709C>T
NC_000012.11:g.103306579C>T
CM000674.1:g.103306579C>T
NG_008690.1:g.9802G>A
NC_000012.12:g.102912801C>T
CM000674.2:g.102912801C>T
NC_000012.10:g.101830709C>T
NC_000012.11:g.103306579C>T
CM000674.1:g.103306579C>T
NG_008690.1:g.9802G>A
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PP4, PM3, BS1
Uncertain Significance
Evidence Links 1
NM_000277.2:c.535T>A
NC_000012.12:g.102855307A>T
CM000674.2:g.102855307A>T
NC_000012.10:g.101773215A>T
NC_000012.11:g.103249085A>T
CM000674.1:g.103249085A>T
NG_008690.1:g.67296T>A
NC_000012.12:g.102855307A>T
CM000674.2:g.102855307A>T
NC_000012.10:g.101773215A>T
NC_000012.11:g.103249085A>T
CM000674.1:g.103249085A>T
NG_008690.1:g.67296T>A
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes:
PP3, PM2, PM3, PP4_Moderate
Likely Pathogenic
Evidence Links 1
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