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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.

CA114360
ClinVar Variation ID: 586
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: PM2, PP4_Moderate, PVS1, PS3
Pathogenic

Evidence Links 2

CA229778
ClinVar Variation ID: 102844
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: PP4, PM2, PVS1
Pathogenic

Evidence Links 1

CA229624
ClinVar Variation ID: 102736
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: PM2, PP4_Moderate, PVS1
Pathogenic

Evidence Links 1

CA229588
ClinVar Variation ID: 102705
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: PP4, PM2, PVS1
Pathogenic

Evidence Links 1

CA229336
ClinVar Variation ID: 102518
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: PP4, PM2, PVS1
Pathogenic

Evidence Links 1

CA229311
ClinVar Variation ID: 102498
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: PP4, PM2, PVS1
Pathogenic

Evidence Links 1

CA229279
ClinVar Variation ID: 102475
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: PM2, PP4_Moderate, PVS1
Pathogenic

Evidence Links 1

CA220591
ClinVar Variation ID: 92752
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: PP4, PM2, PVS1
Pathogenic

Evidence Links 1

CA251526
ClinVar Variation ID: 581
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: PM3, PP4_Moderate, PVS1
Pathogenic

Evidence Links 4

CA229570
ClinVar Variation ID: 102693
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: PP3, PM2, PM3_Strong, PP4_Moderate, PS3
Pathogenic

Evidence Links 5

CA275338
ClinVar Variation ID: 102723
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: PM2, PM3_Strong, PP4_Moderate, PVS1
Pathogenic

Evidence Links 2

CA220578
ClinVar Variation ID: 92737
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: PM2, PM3, PP4_Moderate
Likely Pathogenic

Evidence Links 1

CA229633
ClinVar Variation ID: 102742
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: PP3, PM2, PM3_Strong, PP4_Moderate
Likely Pathogenic

Evidence Links 4

CA273110
ClinVar Variation ID: 92746
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: PP3, PM2, PM3_Strong, PP4_Moderate, PS3
Pathogenic

Evidence Links 3

CA200893
ClinVar Variation ID: 102577
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: BS1, BS2
Benign

Evidence Links 0

CA145978
ClinVar Variation ID: 92732
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: BP4, BA1
Benign

Evidence Links 0

CA220582
ClinVar Variation ID: 92741
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: PP3, PM3_Strong, PP4_Moderate
Likely Pathogenic

Evidence Links 2

CA6748985
ClinVar Variation ID: 306914
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: PP4, PM3, BP4
Uncertain Significance

Evidence Links 1

CA6748843
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: BS1, BP7
Likely Benign

Evidence Links 0

CA229873
ClinVar Variation ID: 102911
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: BS1, BS2, BP7, BS3_Supporting
Benign

Evidence Links 0

CA229585
ClinVar Variation ID: 102703
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: PP4, BS1
Uncertain Significance

Evidence Links 1

CA229561
ClinVar Variation ID: 102687
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: PP3, PM2, PM3, PP4_Moderate
Likely Pathogenic

Evidence Links 1

CA229598
ClinVar Variation ID: 102716
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: PP3, PM2, PM3_Strong, PP4_Moderate
Likely Pathogenic

Evidence Links 2

CA229447
ClinVar Variation ID: 102601
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
Guideline: ACMG variant classification (PAH)
Expert Panel(s)
PAH EP
Codes: PP4, PM3, BS1
Uncertain Significance

Evidence Links 1

CA229613
ClinVar Variation ID: 102729
Gene: PAH
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
Phenylketonuria
(MONDO:0009861 )
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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