ClinVar Miner

Variants in gene PAH with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
419 208 8 77 4 0 31 114

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 72 9 0 0
likely pathogenic 72 6 26 0 0
uncertain significance 9 26 0 4 2
likely benign 0 0 4 2 5
benign 0 0 2 5 0

All variants with conflicting interpretations #

Total variants: 114
Download table as spreadsheet
HGVS dbSNP
NM_000277.1(PAH):c.*19G>T rs372637021
NM_000277.1(PAH):c.1033G>T (p.Ala345Ser) rs62516062
NM_000277.1(PAH):c.1045T>C (p.Ser349Pro) rs62508646
NM_000277.1(PAH):c.1089delG (p.Lys363Asnfs) rs5030654
NM_000277.1(PAH):c.1097C>A (p.Pro366His) rs62516098
NM_000277.1(PAH):c.1157A>G (p.Tyr386Cys) rs62516141
NM_000277.1(PAH):c.1184C>G (p.Ala395Gly) rs62508736
NM_000277.1(PAH):c.165T>G (p.Phe55Leu) rs199475598
NM_000277.1(PAH):c.204A>T (p.Arg68Ser) rs76394784
NM_000277.1(PAH):c.212G>A (p.Arg71His) rs62508695
NM_000277.1(PAH):c.250G>T (p.Asp84Tyr) rs62514902
NM_000277.1(PAH):c.283A>T (p.Ile95Phe) rs62508682
NM_000277.1(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000277.1(PAH):c.559T>C (p.Trp187Arg) rs62507272
NM_000277.1(PAH):c.611A>G (p.Tyr204Cys) rs62514927
NM_000277.1(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.1(PAH):c.664_665delGA (p.Asp222Terfs) rs62514936
NM_000277.1(PAH):c.770G>T (p.Gly257Val) rs62642908
NM_000277.1(PAH):c.842+5G>A rs62516146
NM_000277.1(PAH):c.896T>G (p.Phe299Cys) rs62642933
NM_000277.1(PAH):c.960G>C (p.Lys320Asn) rs199475615
NM_000277.2(PAH):c.1066-3C>T rs62507344
NM_000277.2(PAH):c.116_118del (p.Phe39del) rs199475565
NM_000277.2(PAH):c.1199+1G>A rs62509015
NM_000277.2(PAH):c.1199+70G>A rs281865457
NM_000277.2(PAH):c.1200-8G>A rs62507261
NM_000277.2(PAH):c.1357_*2delTAAAG (p.Ter453Profs) rs794727086
NM_000277.2(PAH):c.165delT (p.Phe55Leufs) rs199475566
NM_000277.2(PAH):c.169-42T>A rs281865459
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer) rs281865431
NM_000277.2(PAH):c.227A>G (p.Glu76Gly) rs62507347
NM_000277.2(PAH):c.261C>A (p.Ser87Arg) rs62516151
NM_000277.2(PAH):c.284_286delTCA (p.Ile95del) rs62508727
NM_000277.2(PAH):c.357delC (p.Trp120Glyfs) rs794727619
NM_000277.2(PAH):c.440C>T (p.Pro147Leu) rs199475694
NM_000277.2(PAH):c.441+1G>A rs62517166
NM_000277.2(PAH):c.441+4A>G rs62508586
NM_000277.2(PAH):c.442-18G>A rs149538764
NM_000277.2(PAH):c.442-2A>C rs281865448
NM_000277.2(PAH):c.47_48delCT (p.Ser16Terfs) rs62642906
NM_000277.2(PAH):c.601C>T (p.His201Tyr) rs62517205
NM_000277.2(PAH):c.632C>T (p.Pro211Leu) rs281865443
NM_000277.2(PAH):c.694C>T (p.Gln232Ter) rs62507348
NM_000277.2(PAH):c.733G>C (p.Val245Leu) rs62508694
NM_000277.2(PAH):c.740G>T (p.Gly247Val) rs199475579
NM_000277.2(PAH):c.764T>C (p.Leu255Ser) rs62642930
NM_000277.2(PAH):c.776C>T (p.Ala259Val) rs118203921
NM_000277.2(PAH):c.806delT (p.Ile269Thrfs) rs62508687
NM_000277.2(PAH):c.847A>T (p.Ile283Phe) rs62517168
NM_000277.2(PAH):c.913-7A>G rs62517165
NM_000277.2(PAH):c.932T>C (p.Leu311Pro) rs62642936
NM_000277.2(PAH):c.941C>A (p.Pro314His) rs62642940
NM_000277.2(PAH):c.965C>G (p.Ala322Gly) rs62514958
NM_000277.2(PAH):c.967_969delACA (p.Thr323del) rs199475618
NM_000277.2(PAH):c.974A>G (p.Tyr325Cys) rs62508578
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) rs62516062
NM_000277.3(PAH):c.1065+3A>G rs62508689
NM_000277.3(PAH):c.1066-2A>T rs281865447
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1147C>T (p.Gln383Ter) rs1037293795
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) rs764974157
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.164T>C (p.Phe55Ser) rs281865438
NM_000277.3(PAH):c.168+1G>A rs62514898
NM_000277.3(PAH):c.169G>A (p.Glu57Lys) rs140945592
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891
NM_000277.3(PAH):c.242C>A (p.Thr81Asn) rs796064502
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000277.3(PAH):c.350C>T (p.Thr117Ile) rs281865439
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796
NM_000277.3(PAH):c.441+5G>T rs62507321
NM_000277.3(PAH):c.464G>C (p.Arg155Pro) rs199475663
NM_000277.3(PAH):c.490A>G (p.Ile164Val) rs199475647
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.511G>A (p.Gly171Arg) rs199475613
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.535T>A (p.Tyr179Asn) rs199475671
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336
NM_000277.3(PAH):c.568G>A (p.Val190Met) rs281865441
NM_000277.3(PAH):c.581T>C (p.Leu194Pro) rs5030844
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.754C>G (p.Arg252Gly) rs5030847
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000277.3(PAH):c.785T>G (p.Val262Gly) rs281865445
NM_000277.3(PAH):c.796A>C (p.Thr266Pro) rs62508752
NM_000277.3(PAH):c.800A>G (p.Gln267Arg) rs778154939
NM_000277.3(PAH):c.800A>T (p.Gln267Leu) rs778154939
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.812A>T (p.His271Leu) rs199475692
NM_000277.3(PAH):c.818C>T (p.Ser273Phe) rs62514953
NM_000277.3(PAH):c.823C>T (p.Pro275Ser) rs62508691
NM_000277.3(PAH):c.841C>T (p.Pro281Ser) rs199475654
NM_000277.3(PAH):c.842+1G>A rs5030852
NM_000277.3(PAH):c.842+3G>C rs62507324
NM_000277.3(PAH):c.842+4A>G rs1555204434
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934
NM_000277.3(PAH):c.926C>T (p.Ala309Val) rs62642935

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.