The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
CA114360
ClinVar Variation ID: 586
Gene: PAH
Uuid: 89f04437-ed5d-4735-8c4a-a9b1d91d10ea
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: PS3, PM2, PM3, PP4_Moderate
Pathogenic

Evidence Links 2

CA229778
ClinVar Variation ID: 102844
Gene: PAH
Uuid: f5d8dc3f-dba0-4dc9-98cd-4a22b6a11a83
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: PVS1, PP4, PM2
Pathogenic

Evidence Links 1

CA229624
ClinVar Variation ID: 102736
Gene: PAH
Uuid: c75a3cc6-1a5e-4837-b431-6e2b2a14c0b1
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: PVS1, PM2, PP4_Moderate
Pathogenic

Evidence Links 1

CA229588
ClinVar Variation ID: 102705
Gene: PAH
Uuid: 7a494430-377e-4473-a5f7-e0698ec51cab
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: PVS1, PP4, PM2
Pathogenic

Evidence Links 1

CA229336
ClinVar Variation ID: 102518
Gene: PAH
Uuid: f73ce257-c08b-40ce-845f-012c6403252c
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: PVS1, PP4, PM2
Pathogenic

Evidence Links 1

CA229311
ClinVar Variation ID: 102498
Gene: PAH
Uuid: 65776af0-77ed-41ec-9999-612a44a636b2
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: PVS1, PP4, PM2
Pathogenic

Evidence Links 1

CA229279
ClinVar Variation ID: 102475
Gene: PAH
Uuid: 4cc2d322-d860-4209-b3df-63e58bac3b07
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: PVS1, PM2, PP4_Moderate
Pathogenic

Evidence Links 1

CA220591
ClinVar Variation ID: 92752
Gene: PAH
Uuid: f8b8c165-463e-4138-88c6-316879bdcf67
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: PVS1, PP4, PM2
Pathogenic

Evidence Links 1

CA251526
ClinVar Variation ID: 581
Gene: PAH
Uuid: a0f4f502-3d14-496e-92b6-b2160d5d9013
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: PM3_Very Strong, PVS1, PP4_Moderate
Pathogenic

Evidence Links 5

CA229570
ClinVar Variation ID: 102693
Gene: PAH
Uuid: faad1844-5076-4b6f-b671-eeb06035449a
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: PS3, PP3, PM3_Strong, PM2, PP4_Moderate
Pathogenic

Evidence Links 5

CA275338
ClinVar Variation ID: 102723
Gene: PAH
Uuid: 08d51386-af9e-4de1-8e7b-0dc6c2252c91
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: PVS1, PM3_Strong, PM2, PP4_Moderate
Pathogenic

Evidence Links 2

CA220578
ClinVar Variation ID: 92737
Gene: PAH
Uuid: 1afec1b2-0d05-412d-b7b8-5253350ff838
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: PM3_Supporting, PM2, PP4_Moderate
Uncertain Significance

Evidence Links 1

CA229633
ClinVar Variation ID: 102742
Gene: PAH
Uuid: 434f1539-4967-4ff7-abc2-e2ff3ca9ecbe
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: PP3, PM3_Strong, PM2, PP4_Moderate
Likely Pathogenic

Evidence Links 4

CA273110
ClinVar Variation ID: 92746
Gene: PAH
Uuid: 9cbb36d6-2daf-4507-b947-3a692ec4d9e7
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: PS3, PP3, PM3_Strong, PM2, PP4_Moderate
Pathogenic

Evidence Links 3

CA200893
ClinVar Variation ID: 102577
Gene: PAH
Uuid: 349736d7-05a8-4ec0-9b30-04fa24dd5529
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: BS1, BS2
Benign

Evidence Links 0

CA145978
ClinVar Variation ID: 92732
Gene: PAH
Uuid: 66eeb668-a8a7-49cb-a6cd-26afcc800972
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: BP4, BA1
Benign

Evidence Links 0

CA220582
ClinVar Variation ID: 92741
Gene: PAH
Uuid: 38a183ee-7e53-4c24-a250-50958f390c78
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: PP3, PM3_Strong, PP4_Moderate
Likely Pathogenic

Evidence Links 2

CA6748985
ClinVar Variation ID: 306914
Gene: PAH
Uuid: a445bf0d-e08f-4300-b282-53c974544d50
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: BP4, PP4, PM3
Uncertain Significance

Evidence Links 1

CA6748843
ClinVar Variation ID: 590340
Gene: PAH
Uuid: 254ed141-a219-404a-8c94-1fd2aceb8103
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: BS1, BP7
Likely Benign

Evidence Links 0

CA229873
ClinVar Variation ID: 102911
Gene: PAH
Uuid: 31e57f08-7be8-46c7-902d-8429b753f57c
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: BS1, BS2, BP7, BS3_Supporting
Benign

Evidence Links 0

CA229585
ClinVar Variation ID: 102703
Gene: PAH
Uuid: 33e1f5d5-20ab-45d2-8dcd-4eba431a8642
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: BS1, PP4
Uncertain Significance

Evidence Links 1

CA229561
ClinVar Variation ID: 102687
Gene: PAH
Uuid: a532eae1-862f-4d90-b69e-5e590a9f7512
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: PP3, PM2, PM3, PP4_Moderate
Likely Pathogenic

Evidence Links 1

CA229598
ClinVar Variation ID: 102716
Gene: PAH
Uuid: 0dbfb1dc-9c9b-4fbe-b1a1-37b190aafe51
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: PP3, PM3_Strong, PM2, PP4_Moderate
Likely Pathogenic

Evidence Links 2

CA229447
ClinVar Variation ID: 102601
Gene: PAH
Uuid: 0b0aa28d-6844-4b34-a270-410f26ce9504
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: BS1, PM3, PP4_Moderate
Uncertain Significance

Evidence Links 2

CA229613
ClinVar Variation ID: 102729
Gene: PAH
Uuid: 1530f57a-9096-4f98-a934-15ce8f576c73
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
Phenylketonuria
(MONDO:0009861 )
Criteria Specification: ACMG variant classification (PAH)
Expert Panel(s)
PAH VCEP
Codes: PP3, PM3, PM2, PP4_Moderate
Likely Pathogenic

Evidence Links 1

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