PAH (phenylalanine hydroxylase) - Rat Genome Database
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Gene: PAH (phenylalanine hydroxylase) Homo sapiens
Analyze
Symbol: PAH
Name: phenylalanine hydroxylase
RGD ID: 735410
HGNC Page HGNC
Description: Exhibits phenylalanine 4-monooxygenase activity. Predicted to be involved in tyrosine biosynthetic process. Predicted to localize to cytosol. Implicated in intellectual disability and phenylketonuria.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: PH; phe-4-monooxygenase; phenylalanine 4-monooxygenase; phenylalanine-4-hydroxylase; PKU; PKU1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Is Marker For: QTLs:   UAE2_H   BW37_H   MULTSCL22_H   SPSL2_H   BW195_H  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl12102,836,889 - 102,958,410 (-)EnsemblGRCh38hg38GRCh38
GRCh3812102,836,889 - 102,958,441 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712103,232,104 - 103,311,381 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612101,756,234 - 101,835,511 (-)NCBINCBI36hg18NCBI36
Build 3412101,734,570 - 101,813,848NCBI
Celera12102,896,051 - 102,975,653 (-)NCBI
Cytogenetic Map12q23.2NCBI
HuRef12100,291,597 - 100,370,682 (-)NCBIHuRef
CHM1_112103,199,004 - 103,278,175 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-lipoic acid  (ISO)
17beta-estradiol  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
astaxanthin  (ISO)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
Benzo[k]fluoranthene  (EXP)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
carbon nanotube  (ISO)
chrysene  (EXP)
ciprofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (ISO)
coenzyme Q10  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
curcumin  (ISO)
cyclosporin A  (EXP)
dibenz[a,h]anthracene  (EXP)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
flutamide  (ISO)
glafenine  (ISO)
glycidol  (ISO)
Indeno[1,2,3-cd]pyrene  (EXP)
iodide salt  (ISO)
kojic acid  (EXP)
lipoic acid  (ISO)
lycopene  (ISO)
lysophosphatidylcholine  (ISO)
methapyrilene  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-ethylmaleimide  (ISO)
N-nitrosodiethylamine  (EXP,ISO)
N-nitrosomorpholine  (ISO)
naphthalene  (EXP)
O-acetyl-L-carnitine  (ISO)
O-methyleugenol  (EXP)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenanthrene  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
resveratrol  (ISO)
S-methylcysteine  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
tauroursodeoxycholic acid  (ISO)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
tetraphene  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal facial shape  (IAGP)
Abnormal renal morphology  (IAGP)
Aggressive behavior  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bifid distal phalanx of the thumb  (IAGP)
Bilateral ptosis  (IAGP)
Bladder exstrophy  (IAGP)
Blue irides  (IAGP)
Brachydactyly  (IAGP)
Cataract  (IAGP)
Cerebral calcification  (IAGP)
Clinodactyly  (IAGP)
Coarctation of aorta  (IAGP)
Depressivity  (IAGP)
Deviated nasal septum  (IAGP)
Double outlet right ventricle  (IAGP)
Dry skin  (IAGP)
Eczema  (IAGP)
Epicanthus  (IAGP)
Esophageal atresia  (IAGP)
Fair hair  (IAGP)
Generalized hypopigmentation  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hemiplegia  (IAGP)
High palate  (IAGP)
Hyperactivity  (IAGP)
Hyperphenylalaninemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Hypopigmentation of hair  (IAGP)
Hypopigmentation of the skin  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic helices  (IAGP)
Hypoplastic left heart  (IAGP)
Hypotelorism  (IAGP)
Increased level of hippuric acid in urine  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Irritability  (IAGP)
Lack of skin elasticity  (IAGP)
Long philtrum  (IAGP)
Maternal hyperphenylalaninemia  (IAGP)
Memory impairment  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Motor deterioration  (IAGP)
Nausea and vomiting  (IAGP)
Obsessive-compulsive behavior  (IAGP)
Paraplegia  (IAGP)
Phenylpyruvic acidemia  (IAGP)
Prenatal maternal abnormality  (IAGP)
Psychosis  (IAGP)
Reduced phenylalanine hydroxylase level  (IAGP)
Scleroderma  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Self-mutilation  (IAGP)
Sloping forehead  (IAGP)
Strabismus  (IAGP)
Tetralogy of Fallot  (IAGP)
Tremor  (IAGP)
Ventricular septal defect  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:1301187   PMID:1301193   PMID:1301200   PMID:1301201   PMID:1301202   PMID:1301947   PMID:1312992   PMID:1326329   PMID:1349576   PMID:1355066   PMID:1358789   PMID:1360590  
PMID:1363837   PMID:1363838   PMID:1601425   PMID:1609797   PMID:1671768   PMID:1671770   PMID:1671810   PMID:1671881   PMID:1672290   PMID:1672294   PMID:1679029   PMID:1679030  
PMID:1682235   PMID:1682495   PMID:1709636   PMID:1769645   PMID:1915502   PMID:1968617   PMID:1971144   PMID:1971147   PMID:1975096   PMID:1975559   PMID:1978553   PMID:2006152  
PMID:2014802   PMID:2035532   PMID:2044609   PMID:2063869   PMID:2246858   PMID:2309142   PMID:2461704   PMID:2564729   PMID:2574002   PMID:2606484   PMID:2615649   PMID:2816939  
PMID:2840952   PMID:2872999   PMID:2986678   PMID:3008810   PMID:3615198   PMID:3856322   PMID:7581408   PMID:7668259   PMID:7807961   PMID:7833954   PMID:7860062   PMID:7981714  
PMID:8068076   PMID:8088845   PMID:8095248   PMID:8097261   PMID:8098245   PMID:8116675   PMID:8364546   PMID:8370573   PMID:8401510   PMID:8406445   PMID:8487271   PMID:8594560  
PMID:8696344   PMID:8825461   PMID:8889583   PMID:8889590   PMID:8990013   PMID:9016524   PMID:9048935   PMID:9101291   PMID:9169088   PMID:9406548   PMID:9450182   PMID:9450897  
PMID:9521426   PMID:9600453   PMID:9642259   PMID:9792407   PMID:9792411   PMID:9843368   PMID:9852673   PMID:9950317   PMID:10200057   PMID:10472529   PMID:10679941   PMID:10694386  
PMID:10784452   PMID:11172645   PMID:11180595   PMID:11214902   PMID:11326337   PMID:11385716   PMID:11461190   PMID:11461196   PMID:11524738   PMID:11678552   PMID:11708866   PMID:11718561  
PMID:11855940   PMID:11935335   PMID:12056888   PMID:12096915   PMID:12126628   PMID:12173030   PMID:12185072   PMID:12200907   PMID:12210276   PMID:12379147   PMID:12477932   PMID:12603326  
PMID:12603331   PMID:12640344   PMID:12649065   PMID:12653545   PMID:12655545   PMID:12655546   PMID:12655548   PMID:12655552   PMID:12765842   PMID:12777691   PMID:12782966   PMID:12833401  
PMID:14568534   PMID:15060071   PMID:15135070   PMID:15192831   PMID:15300621   PMID:15313177   PMID:15459954   PMID:15464430   PMID:15489334   PMID:15556637   PMID:15730960   PMID:15793771  
PMID:15917086   PMID:16086286   PMID:16256386   PMID:16344560   PMID:16402341   PMID:16545551   PMID:16755493   PMID:16765994   PMID:16917891   PMID:16935936   PMID:17096675   PMID:17207965  
PMID:17502162   PMID:17557229   PMID:17627389   PMID:17630668   PMID:17633563   PMID:17924342   PMID:18184144   PMID:18247293   PMID:18294361   PMID:18299955   PMID:18346471   PMID:18374504  
PMID:18387838   PMID:18447256   PMID:18538294   PMID:18769885   PMID:18798839   PMID:18937047   PMID:18937293   PMID:18956252   PMID:18985011   PMID:19036622   PMID:19062537   PMID:19062542  
PMID:19086053   PMID:19099685   PMID:19147918   PMID:19161120   PMID:19199246   PMID:19268543   PMID:19292873   PMID:19360691   PMID:19394257   PMID:19444284   PMID:19485247   PMID:19629656  
PMID:19674121   PMID:19786003   PMID:19915519   PMID:19938643   PMID:20017307   PMID:20082265   PMID:20140859   PMID:20187763   PMID:20188615   PMID:20301334   PMID:20301677   PMID:20457534  
PMID:20468064   PMID:20667834   PMID:20937381   PMID:21154324   PMID:21811977   PMID:21873635   PMID:21890392   PMID:21988832   PMID:22333022   PMID:22513348   PMID:22526846   PMID:22698810  
PMID:22763404   PMID:22808937   PMID:23074961   PMID:23220018   PMID:23296088   PMID:23376485   PMID:23856132   PMID:23898865   PMID:23932990   PMID:24048906   PMID:24078561   PMID:24130151  
PMID:24350308   PMID:24401910   PMID:24510552   PMID:24510568   PMID:24606907   PMID:24607329   PMID:24816252   PMID:24825084   PMID:24941924   PMID:25449068   PMID:25596310   PMID:25750018  
PMID:25863075   PMID:25863076   PMID:25894915   PMID:25990862   PMID:26025954   PMID:26542770   PMID:26575882   PMID:26600521   PMID:26759449   PMID:26803807   PMID:26919687   PMID:27049649  
PMID:27173423   PMID:27264808   PMID:27308838   PMID:27447460   PMID:27620137   PMID:28389235   PMID:28604955   PMID:28653649   PMID:28676969   PMID:28982351   PMID:29032371   PMID:29174366  
PMID:29390883   PMID:29413232   PMID:29514280   PMID:29653233   PMID:29684050   PMID:29987050   PMID:30037505   PMID:30050108   PMID:30159852   PMID:30287685   PMID:30459323   PMID:30512147  
PMID:30747360   PMID:31102715   PMID:31382905   PMID:31703125   PMID:31703126   PMID:31923802   PMID:32069237   PMID:32074228  


Genomics

Comparative Map Data
PAH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl12102,836,889 - 102,958,410 (-)EnsemblGRCh38hg38GRCh38
GRCh3812102,836,889 - 102,958,441 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712103,232,104 - 103,311,381 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612101,756,234 - 101,835,511 (-)NCBINCBI36hg18NCBI36
Build 3412101,734,570 - 101,813,848NCBI
Celera12102,896,051 - 102,975,653 (-)NCBI
Cytogenetic Map12q23.2NCBI
HuRef12100,291,597 - 100,370,682 (-)NCBIHuRef
CHM1_112103,199,004 - 103,278,175 (-)NCBICHM1_1
Pah
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391087,357,657 - 87,419,999 (+)NCBIGRCm39mm39
GRCm381087,521,795 - 87,584,137 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1087,521,795 - 87,584,136 (+)EnsemblGRCm38mm10GRCm38
MGSCv371086,984,540 - 87,046,882 (+)NCBIGRCm37mm9NCBIm37
MGSCv361086,951,768 - 87,013,930 (+)NCBImm8
Celera1089,475,828 - 89,562,695 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1043.64NCBI
Pah
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0728,066,639 - 28,129,772 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl728,066,635 - 28,129,769 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0728,180,707 - 28,245,428 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4724,175,898 - 24,243,592 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1724,196,183 - 24,263,859 (+)NCBI
Celera719,108,301 - 19,168,259 (+)NCBICelera
Cytogenetic Map7q13NCBI
RH 3.4 Map7119.56RGD
Pah
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540537,846,354 - 37,909,457 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540537,848,486 - 37,909,163 (-)NCBIChiLan1.0ChiLan1.0
PAH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.112103,811,761 - 103,891,726 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12103,811,761 - 103,891,726 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v012100,417,267 - 100,496,888 (-)NCBIMhudiblu_PPA_v0panPan3
PAH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1541,592,876 - 41,670,837 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11541,590,253 - 41,670,156 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Pah
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493649211,342,566 - 11,412,323 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PAH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl581,236,096 - 81,463,452 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1581,385,401 - 81,460,569 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2585,200,848 - 85,228,826 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PAH
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl1198,063,199 - 98,139,285 (-)Ensembl
ChlSab1.11198,065,869 - 98,140,011 (-)NCBI
Pah
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247505,527,720 - 5,598,173 (+)NCBI

Position Markers
D12S1418  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712103,232,612 - 103,232,947UniSTSGRCh37
Build 3612101,756,742 - 101,757,077RGDNCBI36
Celera12102,896,559 - 102,896,894RGD
Cytogenetic Map12q22-q24.2UniSTS
HuRef12100,292,105 - 100,292,440UniSTS
Whitehead-YAC Contig Map12 UniSTS
GeneMap99-G3 RH Map124748.0UniSTS
GDB:177363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712103,234,126 - 103,234,369UniSTSGRCh37
Build 3612101,758,256 - 101,758,499RGDNCBI36
Celera12102,898,073 - 102,898,316RGD
Cytogenetic Map12q22-q24.2UniSTS
HuRef12100,293,619 - 100,293,862UniSTS
GDB:177555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712103,288,483 - 103,288,782UniSTSGRCh37
Build 3612101,812,613 - 101,812,912RGDNCBI36
Celera12102,952,336 - 102,952,635RGD
Cytogenetic Map12q22-q24.2UniSTS
HuRef12100,347,785 - 100,348,084UniSTS
GDB:178434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712103,246,516 - 103,246,728UniSTSGRCh37
Build 3612101,770,646 - 101,770,858RGDNCBI36
Celera12102,910,465 - 102,910,677RGD
Cytogenetic Map12q22-q24.2UniSTS
HuRef12100,305,904 - 100,306,116UniSTS
GDB:181551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712103,232,318 - 103,232,652UniSTSGRCh37
Build 3612101,756,448 - 101,756,782RGDNCBI36
Celera12102,896,265 - 102,896,599RGD
Cytogenetic Map12q22-q24.2UniSTS
HuRef12100,291,811 - 100,292,145UniSTS
GDB:182301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712103,245,504 - 103,245,925UniSTSGRCh37
Build 3612101,769,634 - 101,770,055RGDNCBI36
Celera12102,909,453 - 102,909,874RGD
Cytogenetic Map12q22-q24.2UniSTS
HuRef12100,304,892 - 100,305,313UniSTS
GDB:182302  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712103,310,585 - 103,310,874UniSTSGRCh37
Build 3612101,834,715 - 101,835,004RGDNCBI36
Celera12102,974,857 - 102,975,146RGD
Cytogenetic Map12q22-q24.2UniSTS
HuRef12100,369,886 - 100,370,175UniSTS
GDB:182303  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712103,305,185 - 103,305,556UniSTSGRCh37
Build 3612101,829,315 - 101,829,686RGDNCBI36
Celera12102,969,457 - 102,969,828RGD
Cytogenetic Map12q22-q24.2UniSTS
HuRef12100,364,487 - 100,364,858UniSTS
GDB:196577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712103,243,920 - 103,244,123UniSTSGRCh37
Build 3612101,768,050 - 101,768,253RGDNCBI36
Celera12102,907,867 - 102,908,070RGD
Cytogenetic Map12q22-q24.2UniSTS
HuRef12100,303,307 - 100,303,510UniSTS
GDB:199078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712103,283,158 - 103,283,399UniSTSGRCh37
Build 3612101,807,288 - 101,807,529RGDNCBI36
Celera12102,947,015 - 102,947,252RGD
Cytogenetic Map12q22-q24.2UniSTS
HuRef12100,342,454 - 100,342,699UniSTS
GDB:454047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712103,246,518 - 103,246,802UniSTSGRCh37
Build 3612101,770,648 - 101,770,932RGDNCBI36
Celera12102,910,467 - 102,910,751RGD
Cytogenetic Map12q22-q24.2UniSTS
HuRef12100,305,906 - 100,306,190UniSTS
GDB:454053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712103,237,310 - 103,237,666UniSTSGRCh37
Build 3612101,761,440 - 101,761,796RGDNCBI36
Celera12102,901,257 - 102,901,613RGD
Cytogenetic Map12q22-q24.2UniSTS
HuRef12100,296,803 - 100,297,159UniSTS
SHGC-107607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712103,262,912 - 103,263,192UniSTSGRCh37
Build 3612101,787,042 - 101,787,322RGDNCBI36
Celera12102,926,794 - 102,927,074RGD
Cytogenetic Map12q22-q24.2UniSTS
HuRef12100,322,244 - 100,322,524UniSTS
TNG Radiation Hybrid Map1251286.0UniSTS
SHGC-143102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712103,238,472 - 103,238,819UniSTSGRCh37
Build 3612101,762,602 - 101,762,949RGDNCBI36
Celera12102,902,419 - 102,902,766RGD
Cytogenetic Map12q22-q24.2UniSTS
HuRef12100,297,965 - 100,298,312UniSTS
TNG Radiation Hybrid Map1251282.0UniSTS
SHGC-155640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712103,294,675 - 103,294,958UniSTSGRCh37
Build 3612101,818,805 - 101,819,088RGDNCBI36
Celera12102,958,947 - 102,959,230RGD
Cytogenetic Map12q22-q24.2UniSTS
HuRef12100,353,977 - 100,354,260UniSTS
TNG Radiation Hybrid Map1251331.0UniSTS
SHGC-37493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712103,285,351 - 103,285,500UniSTSGRCh37
Build 3612101,809,481 - 101,809,630RGDNCBI36
Celera12102,949,204 - 102,949,353RGD
Cytogenetic Map12q22-q24.2UniSTS
HuRef12100,344,651 - 100,344,800UniSTS
GeneMap99-G3 RH Map124281.0UniSTS
RH68979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712103,232,667 - 103,232,878UniSTSGRCh37
Build 3612101,756,797 - 101,757,008RGDNCBI36
Celera12102,896,614 - 102,896,825RGD
Cytogenetic Map12q22-q24.2UniSTS
HuRef12100,292,160 - 100,292,371UniSTS
GeneMap99-GB4 RH Map12399.61UniSTS
NCBI RH Map12689.3UniSTS
WI-12632  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712103,234,104 - 103,234,228UniSTSGRCh37
Build 3612101,758,234 - 101,758,358RGDNCBI36
Celera12102,898,051 - 102,898,175RGD
Cytogenetic Map12q22-q24.2UniSTS
HuRef12100,293,597 - 100,293,721UniSTS
GeneMap99-GB4 RH Map12400.1UniSTS
Whitehead-RH Map12496.5UniSTS
NCBI RH Map12689.3UniSTS
PAH__5816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712103,232,037 - 103,232,906UniSTSGRCh37
Build 3612101,756,167 - 101,757,036RGDNCBI36
Celera12102,895,984 - 102,896,853RGD
HuRef12100,291,530 - 100,292,399UniSTS
GDB:454059  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q22-q24.2UniSTS
HuRef12100,308,219 - 100,308,562UniSTS
GDB:177630  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q22-q24.2UniSTS
HuRef12100,319,675 - 100,319,934UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3208
Count of miRNA genes:1226
Interacting mature miRNAs:1534
Transcripts:ENST00000307000, ENST00000546708, ENST00000546844, ENST00000547319, ENST00000548677, ENST00000548928, ENST00000549111, ENST00000549247, ENST00000550405, ENST00000550978, ENST00000551114, ENST00000551337, ENST00000551988, ENST00000552251, ENST00000553106
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 3 3 3 1
Medium 5 2 457 431 5 432 163 5 12 1
Low 72 43 625 15 132 14 222 5 1994 102 514 205 2 27 31
Below cutoff 1951 1669 604 153 1128 5 2530 1356 1625 73 662 1056 150 835 1740 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB778766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF003965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF003967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF404777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY563525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY722625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY722626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY722627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ268294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA299598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K03020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L47726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S61296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S61396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S75697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S75702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S75704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S83538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U49897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000307000   ⟹   ENSP00000303500
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12102,838,324 - 102,917,254 (-)Ensembl
RefSeq Acc Id: ENST00000546708
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12102,917,172 - 102,950,850 (-)Ensembl
RefSeq Acc Id: ENST00000546844   ⟹   ENSP00000446658
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12102,894,735 - 102,950,846 (-)Ensembl
RefSeq Acc Id: ENST00000547319
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12102,916,573 - 102,958,410 (-)Ensembl
RefSeq Acc Id: ENST00000548677
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12102,894,801 - 102,915,192 (-)Ensembl
RefSeq Acc Id: ENST00000548928
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12102,886,045 - 102,912,880 (-)Ensembl
RefSeq Acc Id: ENST00000549111
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12102,854,686 - 102,917,226 (-)Ensembl
RefSeq Acc Id: ENST00000549247
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12102,840,513 - 102,853,415 (-)Ensembl
RefSeq Acc Id: ENST00000550405
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12102,945,959 - 102,950,845 (-)Ensembl
RefSeq Acc Id: ENST00000550978   ⟹   ENSP00000489016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12102,877,235 - 102,917,114 (-)Ensembl
RefSeq Acc Id: ENST00000551114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12102,839,087 - 102,852,260 (-)Ensembl
RefSeq Acc Id: ENST00000551337   ⟹   ENSP00000447620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12102,877,495 - 102,958,366 (-)Ensembl
RefSeq Acc Id: ENST00000551988
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12102,855,279 - 102,917,219 (-)Ensembl
RefSeq Acc Id: ENST00000552251
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12102,945,088 - 102,950,868 (-)Ensembl
RefSeq Acc Id: ENST00000553106   ⟹   ENSP00000448059
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12102,836,889 - 102,917,244 (-)Ensembl
RefSeq Acc Id: ENST00000635477   ⟹   ENSP00000489230
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12102,839,209 - 102,852,817 (-)Ensembl
RefSeq Acc Id: ENST00000635500
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12102,894,866 - 102,958,222 (-)Ensembl
RefSeq Acc Id: ENST00000635528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12102,839,089 - 102,847,378 (-)Ensembl
RefSeq Acc Id: NM_000277   ⟹   NP_000268
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812102,836,889 - 102,917,244 (-)NCBI
GRCh3712103,232,104 - 103,311,381 (-)ENTREZGENE
Build 3612101,756,234 - 101,835,511 (-)NCBI Archive
HuRef12100,291,597 - 100,370,682 (-)ENTREZGENE
CHM1_112103,199,004 - 103,278,175 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354304   ⟹   NP_001341233
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812102,836,889 - 102,958,441 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019370   ⟹   XP_016874859
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812102,853,828 - 102,917,244 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000268   ⟸   NM_000277
- UniProtKB: P00439 (UniProtKB/Swiss-Prot),   A0A024RBG4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016874859   ⟸   XM_017019370
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001341233   ⟸   NM_001354304
- Sequence:
RefSeq Acc Id: ENSP00000303500   ⟸   ENST00000307000
RefSeq Acc Id: ENSP00000489230   ⟸   ENST00000635477
RefSeq Acc Id: ENSP00000446658   ⟸   ENST00000546844
RefSeq Acc Id: ENSP00000489016   ⟸   ENST00000550978
RefSeq Acc Id: ENSP00000447620   ⟸   ENST00000551337
RefSeq Acc Id: ENSP00000448059   ⟸   ENST00000553106
Protein Domains
ACT   BH4_AAA_HYDROXYL_2

Promoters
RGD ID:6790342
Promoter ID:HG_KWN:16483
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_000277
Position:
Human AssemblyChrPosition (strand)Source
Build 3612101,835,054 - 101,835,554 (-)MPROMDB
RGD ID:6852588
Promoter ID:EP74106
Type:initiation region
Name:HS_PAH
Description:Phenylalanine hydroxylase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 3612101,835,135 - 101,835,195EPD
RGD ID:7225203
Promoter ID:EPDNEW_H18347
Type:initiation region
Name:PAH_1
Description:phenylalanine hydroxylase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812102,917,283 - 102,917,343EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000277.3(PAH):c.1037G>A (p.Gly346Glu) single nucleotide variant Phenylketonuria [RCV000553622] Chr12:102844364 [GRCh38]
Chr12:103238142 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_000277.3(PAH):c.1315+1G>A single nucleotide variant Autistic disorder of childhood onset [RCV001196422]|Inborn genetic diseases [RCV000622610]|Phenylketonuria [RCV000000606]|not provided [RCV000078510] Chr12:102840399 [GRCh38]
Chr12:103234177 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.442-1G>A single nucleotide variant Phenylketonuria [RCV000000625]|not provided [RCV000088924] Chr12:102866664 [GRCh38]
Chr12:103260442 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.1092_1094del (p.Leu365del) deletion Phenylketonuria [RCV000000628]|not provided [RCV000088752] Chr12:102843751..102843753 [GRCh38]
Chr12:103237529..103237531 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.842+1G>A single nucleotide variant Phenylketonuria [RCV000000630]|not provided [RCV000089129] Chr12:102852814 [GRCh38]
Chr12:103246592 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_000277.3(PAH):c.1197A>T (p.Val399=) single nucleotide variant Phenylketonuria [RCV000000632]|not provided [RCV000088786] Chr12:102843648 [GRCh38]
Chr12:103237426 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.281_283TCA[1] (p.Ile95del) microsatellite Phenylketonuria [RCV000000635]|not provided [RCV000078518] Chr12:102894801..102894803 [GRCh38]
Chr12:103288579..103288581 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
PAH, SER349ARG variation Phenylketonuria [RCV000000637] Chr12:12q24.1 pathogenic
NM_000277.3(PAH):c.1066-11G>A single nucleotide variant Phenylketonuria [RCV000000638]|not provided [RCV000078500] Chr12:102843790 [GRCh38]
Chr12:103237568 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.165del (p.Phe55fs) deletion Phenylketonuria [RCV000000642]|not provided [RCV000078513] Chr12:102912794 [GRCh38]
Chr12:103306572 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_000277.3(PAH):c.842+2T>A single nucleotide variant Phenylketonuria [RCV000000645]|not provided [RCV000089131] Chr12:102852813 [GRCh38]
Chr12:103246591 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.1092_1106del (p.Leu365_Leu369del) deletion Phenylketonuria [RCV000000651]|not provided [RCV000088753] Chr12:102843739..102843753 [GRCh38]
Chr12:103237517..103237531 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.1066-3C>T single nucleotide variant Phenylketonuria [RCV000000654]|not provided [RCV000088742] Chr12:102843782 [GRCh38]
Chr12:103237560 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_000277.3(PAH):c.1065+3A>G single nucleotide variant Hyperphenylalaninemia, non-pku [RCV000000665]|Phenylketonuria [RCV000758111]|not provided [RCV000088736] Chr12:102844333 [GRCh38]
Chr12:103238111 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000277.3(PAH):c.1129del (p.Tyr377fs) deletion Phenylketonuria [RCV000000666]|not provided [RCV000088766] Chr12:102843716 [GRCh38]
Chr12:103237494 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.1(PAH):c.913_1199del (p.Ile306Leufs) deletion Phenylketonuria [RCV000000669] Chr12:102843645..102846952 [GRCh38]
Chr12:12q23.2
pathogenic
NM_001354304.2(PAH):c.-95-4071_-95-313del deletion Hyperphenylalaninemia, non-pku [RCV000000670] Chr12:102917538..102921296 [GRCh38]
Chr12:103311316..103315074 [GRCh37]
Chr12:12q24.1
pathogenic
NM_000277.3(PAH):c.506G>C (p.Arg169Pro) single nucleotide variant Phenylketonuria [RCV000515792] Chr12:102866599 [GRCh38]
Chr12:103260377 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_000277.3(PAH):c.837C>T (p.Pro279=) single nucleotide variant Phenylketonuria [RCV000875702]|not specified [RCV000603245] Chr12:102852820 [GRCh38]
Chr12:103246598 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_000277.3(PAH):c.865G>A (p.Gly289Arg) single nucleotide variant Phenylketonuria [RCV000548849] Chr12:102851734 [GRCh38]
Chr12:103245512 [GRCh37]
Chr12:12q23.2
pathogenic
NM_000277.3(PAH):c.934G>T (p.Gly312Cys) single nucleotide variant Phenylketonuria [RCV000515773] Chr12:102846930 [GRCh38]
Chr12:103240708 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_000277.3(PAH):c.814G>T (p.Gly272Ter) single nucleotide variant Phenylketonuria [RCV000000627]|not provided [RCV000089110] Chr12:102852843 [GRCh38]
Chr12:103246621 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.818C>T (p.Ser273Phe) single nucleotide variant Phenylketonuria [RCV000000629]|not provided [RCV000089111] Chr12:102852839 [GRCh38]
Chr12:103246617 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.764T>C (p.Leu255Ser) single nucleotide variant Phenylketonuria [RCV000000631]|not provided [RCV000089083] Chr12:102852893 [GRCh38]
Chr12:103246671 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.776C>T (p.Ala259Val) single nucleotide variant Phenylketonuria [RCV000000633]|not provided [RCV000089089] Chr12:102852881 [GRCh38]
Chr12:103246659 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) single nucleotide variant Phenylketonuria [RCV000000634]|not provided [RCV000078531] Chr12:102852828 [GRCh38]
Chr12:103246606 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) single nucleotide variant Phenylketonuria [RCV000000636]|not provided [RCV000078504] Chr12:102912842 [GRCh38]
Chr12:103306620 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) single nucleotide variant Congenital cataract [RCV001195969]|Phenylketonuria [RCV000000639]|not provided [RCV000078511] Chr12:102912816 [GRCh38]
Chr12:103306594 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.662A>G (p.Glu221Gly) single nucleotide variant Phenylketonuria [RCV000000640]|not provided [RCV000089024] Chr12:102855180 [GRCh38]
Chr12:103248958 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) single nucleotide variant Phenylketonuria [RCV000000641]|not provided [RCV000089090] Chr12:102852876 [GRCh38]
Chr12:103246654 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) single nucleotide variant Phenylketonuria [RCV000000643]|not provided [RCV000088806] Chr12:102840492 [GRCh38]
Chr12:103234270 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) single nucleotide variant Phenylketonuria [RCV000000644]|not provided [RCV000089148] Chr12:102851703 [GRCh38]
Chr12:103245481 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) single nucleotide variant Phenylketonuria [RCV000000646]|not provided [RCV000078499] Chr12:102844356 [GRCh38]
Chr12:103238134 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) single nucleotide variant Mild non-PKU hyperphenylalanemia [RCV000000647]|Phenylketonuria [RCV000675108]|not provided [RCV000089177] Chr12:102846899 [GRCh38]
Chr12:103240677 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) single nucleotide variant Hyperphenylalaninemia, non-pku [RCV000000648]|Phenylketonuria [RCV000401074]|not provided [RCV000088815] Chr12:102840472 [GRCh38]
Chr12:103234250 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.916A>G (p.Ile306Val) single nucleotide variant Hyperphenylalaninemia, non-pku [RCV000000649]|Phenylketonuria [RCV000169485]|not provided [RCV000089157] Chr12:102846948 [GRCh38]
Chr12:103240726 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000277.3(PAH):c.1162G>A (p.Val388Met) single nucleotide variant Phenylketonuria [RCV000000650]|not provided [RCV000088774] Chr12:102843683 [GRCh38]
Chr12:103237461 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.731C>T (p.Pro244Leu) single nucleotide variant Phenylketonuria [RCV000000652]|not provided [RCV000089061] Chr12:102852926 [GRCh38]
Chr12:103246704 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.3G>A (p.Met1Ile) single nucleotide variant Phenylketonuria [RCV000000653]|not provided [RCV000088911] Chr12:102917128 [GRCh38]
Chr12:103310906 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.997C>T (p.Leu333Phe) single nucleotide variant Hyperphenylalaninemia, non-pku [RCV000000655]|not provided [RCV000089195] Chr12:102844404 [GRCh38]
Chr12:103238182 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) single nucleotide variant Hyperphenylalaninemia, non-pku [RCV000000656]|Motor delay [RCV001195999]|Phenylketonuria [RCV000000657]|not provided [RCV000078503] Chr12:102843676 [GRCh38]
Chr12:103237454 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000277.3(PAH):c.1076C>G (p.Ser359Ter) single nucleotide variant Phenylketonuria [RCV000000658]|not provided [RCV000088747] Chr12:102843769 [GRCh38]
Chr12:103237547 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) single nucleotide variant Mild non-PKU hyperphenylalanemia [RCV000000659]|Phenylketonuria [RCV000675074]|not provided [RCV000088892] Chr12:102894794 [GRCh38]
Chr12:103288572 [GRCh37]
Chr12:12q23.2
pathogenic|uncertain significance|not provided
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) single nucleotide variant Hyperphenylalaninemia, non-pku [RCV000000660]|Marfanoid habitus and intellectual disability [RCV000850463]|Phenylketonuria [RCV000150077]|not provided [RCV000078502] Chr12:102843706 [GRCh38]
Chr12:103237484 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_000277.3(PAH):c.136G>A (p.Gly46Ser) single nucleotide variant Phenylketonuria [RCV000000661]|not provided [RCV000088836] Chr12:102912823 [GRCh38]
Chr12:103306601 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.140C>T (p.Ala47Val) single nucleotide variant Hyperphenylalaninemia, non-pku [RCV000000662]|Phenylketonuria [RCV001200011]|not provided [RCV000088839] Chr12:102912819 [GRCh38]
Chr12:103306597 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) single nucleotide variant Hyperphenylalaninemia, non-pku [RCV000000663]|Phenylketonuria [RCV000346024]|not provided [RCV000088974] Chr12:102855315 [GRCh38]
Chr12:103249093 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.734T>C (p.Val245Ala) single nucleotide variant Hyperphenylalaninaemia [RCV000148724]|Hyperphenylalaninemia, non-pku [RCV000000664]|Phenylketonuria [RCV000346938]|not provided [RCV000089065] Chr12:102852923 [GRCh38]
Chr12:103246701 [GRCh37]
Chr12:12q23.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000277.3(PAH):c.1220C>T (p.Pro407Leu) single nucleotide variant Phenylketonuria [RCV000000667]|not provided [RCV000088804] Chr12:102840495 [GRCh38]
Chr12:103234273 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) single nucleotide variant Phenylketonuria [RCV000000668]|not provided [RCV000078516] Chr12:102894893 [GRCh38]
Chr12:103288671 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000277.3(PAH):c.227A>G (p.Glu76Gly) single nucleotide variant Hyperphenylalaninemia, non-pku [RCV000000671]|Phenylketonuria [RCV000672628]|not provided [RCV000088878] Chr12:102894860 [GRCh38]
Chr12:103288638 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) single nucleotide variant Phenylketonuria [RCV000000607]|not provided [RCV000078507] Chr12:102840493 [GRCh38]
Chr12:103234271 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.932T>C (p.Leu311Pro) single nucleotide variant Phenylketonuria [RCV000000608]|not provided [RCV000089164] Chr12:102846932 [GRCh38]
Chr12:103240710 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_000277.3(PAH):c.977G>A (p.Trp326Ter) single nucleotide variant Phenylketonuria [RCV000000609]|not provided [RCV000089188] Chr12:102844424 [GRCh38]
Chr12:103238202 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) single nucleotide variant Phenylketonuria [RCV000000610]|not provided [RCV000078532] Chr12:102852819 [GRCh38]
Chr12:103246597 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) single nucleotide variant Phenylketonuria [RCV000000611]|not provided [RCV000088898] Chr12:102894756 [GRCh38]
Chr12:103288534 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) single nucleotide variant Phenylketonuria [RCV000000612]|not provided [RCV000078530] Chr12:102852875 [GRCh38]
Chr12:103246653 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) single nucleotide variant Hyperphenylalaninemia, non-pku [RCV000000613]|Phenylketonuria [RCV000763293]|not provided [RCV000088884] Chr12:102894826 [GRCh38]
Chr12:103288604 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) single nucleotide variant Phenylketonuria [RCV000000614]|not provided [RCV000089079] Chr12:102852903 [GRCh38]
Chr12:103246681 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_000277.3(PAH):c.1A>G (p.Met1Val) single nucleotide variant Hyperphenylalaninemia, non-pku [RCV000000617]|Phenylketonuria [RCV000000616]|not provided [RCV000088868] Chr12:102917130 [GRCh38]
Chr12:103310908 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) single nucleotide variant Phenylketonuria [RCV000000618]|not provided [RCV000078522] Chr12:102866632 [GRCh38]
Chr12:103260410 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) single nucleotide variant Phenylketonuria [RCV000000619]|not provided [RCV000078528] Chr12:102852930 [GRCh38]
Chr12:103246708 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) single nucleotide variant Inborn genetic diseases [RCV001265833]|Phenylketonuria [RCV000000620]|not provided [RCV000078534] Chr12:102852815 [GRCh38]
Chr12:103246593 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys) single nucleotide variant Phenylketonuria [RCV000000621]|not provided [RCV000089007] Chr12:102855231 [GRCh38]
Chr12:103249009 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) single nucleotide variant Inborn genetic diseases [RCV000624337]|Phenylketonuria [RCV000000622]|not provided [RCV000089059] Chr12:102852929 [GRCh38]
Chr12:103246707 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro) single nucleotide variant Phenylketonuria [RCV000000623]|not provided [RCV000088813] Chr12:102840477 [GRCh38]
Chr12:103234255 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) single nucleotide variant Cardiomyopathy [RCV001197003]|Hyperphenylalaninemia, non-pku [RCV000000624]|Phenylketonuria [RCV000150074]|not provided [RCV000078508] Chr12:102840474 [GRCh38]
Chr12:103234252 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter) single nucleotide variant Phenylketonuria [RCV000000626]|not provided [RCV000088745] Chr12:102843777 [GRCh38]
Chr12:103237555 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
GRCh38/hg38 12q23.1-23.3(chr12:100670616-108583607)x1 copy number loss See cases [RCV000051320] Chr12:100670616..108583607 [GRCh38]
Chr12:101064394..108977383 [GRCh37]
Chr12:99588525..107501512 [NCBI36]
Chr12:12q23.1-23.3
pathogenic
NM_000277.1(PAH):c.1141G>A (p.Glu381Lys) single nucleotide variant Malignant melanoma [RCV000069777] Chr12:102843704 [GRCh38]
Chr12:103237482 [GRCh37]
Chr12:101761612 [NCBI36]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.926C>A (p.Ala309Asp) single nucleotide variant Phenylketonuria [RCV000668228]|not provided [RCV000089160] Chr12:102846938 [GRCh38]
Chr12:103240716 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.929C>A (p.Ser310Tyr) single nucleotide variant not provided [RCV000089161] Chr12:102846935 [GRCh38]
Chr12:103240713 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.929C>T (p.Ser310Phe) single nucleotide variant Phenylketonuria [RCV000552302]|not provided [RCV000089162] Chr12:102846935 [GRCh38]
Chr12:103240713 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.930_940del (p.Ser310_Leu311insTer) deletion Phenylketonuria [RCV001240978]|not provided [RCV000089163] Chr12:102846924..102846934 [GRCh38]
Chr12:103240702..103240712 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.935G>A (p.Gly312Asp) single nucleotide variant not provided [RCV000089165] Chr12:102846929 [GRCh38]
Chr12:103240707 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.937G>A (p.Ala313Thr) single nucleotide variant Phenylketonuria [RCV000669990]|not provided [RCV000089166] Chr12:102846927 [GRCh38]
Chr12:103240705 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.938C>T (p.Ala313Val) single nucleotide variant not provided [RCV000089167] Chr12:102846926 [GRCh38]
Chr12:103240704 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.940C>A (p.Pro314Thr) single nucleotide variant Phenylketonuria [RCV000672630]|not provided [RCV000089168] Chr12:102846924 [GRCh38]
Chr12:103240702 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.940C>T (p.Pro314Ser) single nucleotide variant Phenylketonuria [RCV000758098]|not provided [RCV000089169] Chr12:102846924 [GRCh38]
Chr12:103240702 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.941del (p.Pro314fs) deletion not provided [RCV000089170] Chr12:102846923 [GRCh38]
Chr12:103240701 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.941C>A (p.Pro314His) single nucleotide variant Phenylketonuria [RCV000409567]|not provided [RCV000089171] Chr12:102846923 [GRCh38]
Chr12:103240701 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000277.3(PAH):c.943G>T (p.Asp315Tyr) single nucleotide variant not provided [RCV000089172] Chr12:102846921 [GRCh38]
Chr12:103240699 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.953T>C (p.Ile318Thr) single nucleotide variant not provided [RCV000089173] Chr12:102846911 [GRCh38]
Chr12:103240689 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.960G>C (p.Lys320Asn) single nucleotide variant Phenylketonuria [RCV000666332]|not provided [RCV000089174] Chr12:102846904 [GRCh38]
Chr12:103240682 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.963C>T (p.Leu321=) single nucleotide variant Phenylketonuria [RCV000721181]|not provided [RCV000089175]|not specified [RCV000507684] Chr12:102846901 [GRCh38]
Chr12:103240679 [GRCh37]
Chr12:12q23.2
benign|not provided
NM_000277.3(PAH):c.964G>A (p.Ala322Thr) single nucleotide variant Phenylketonuria [RCV000797233]|not provided [RCV000089176] Chr12:102846900 [GRCh38]
Chr12:103240678 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.968_970del (p.Thr323del) deletion Phenylketonuria [RCV000587503]|not provided [RCV000089178] Chr12:102846895..102846897 [GRCh38]
Chr12:103240673..103240675 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.969+1G>A single nucleotide variant Phenylketonuria [RCV000797251]|not provided [RCV000089179] Chr12:102846894 [GRCh38]
Chr12:103240672 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.969+5G>A single nucleotide variant Phenylketonuria [RCV001093511]|not provided [RCV000089181] Chr12:102846890 [GRCh38]
Chr12:103240668 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.969+6T>A single nucleotide variant Phenylketonuria [RCV000664529]|not provided [RCV000089182] Chr12:102846889 [GRCh38]
Chr12:103240667 [GRCh37]
Chr12:12q23.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000277.3(PAH):c.969A>G (p.Thr323=) single nucleotide variant Phenylketonuria [RCV000672139]|not provided [RCV000089183] Chr12:102846895 [GRCh38]
Chr12:103240673 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.970-2A>C single nucleotide variant not provided [RCV000089184] Chr12:102844433 [GRCh38]
Chr12:103238211 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.970-5T>A single nucleotide variant not provided [RCV000089185] Chr12:102844436 [GRCh38]
Chr12:103238214 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.970-6T>G single nucleotide variant not provided [RCV000089186] Chr12:102844437 [GRCh38]
Chr12:103238215 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.975C>G (p.Tyr325Ter) single nucleotide variant Phenylketonuria [RCV000410321]|not provided [RCV000089187] Chr12:102844426 [GRCh38]
Chr12:103238204 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.981T>G (p.Phe327Leu) single nucleotide variant Phenylketonuria [RCV001199991]|not provided [RCV000089189] Chr12:102844420 [GRCh38]
Chr12:103238198 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.982A>G (p.Thr328Ala) single nucleotide variant not provided [RCV000089190] Chr12:102844419 [GRCh38]
Chr12:103238197 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.990G>C (p.Glu330Asp) single nucleotide variant not provided [RCV000089191] Chr12:102844411 [GRCh38]
Chr12:103238189 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.991T>C (p.Phe331Leu) single nucleotide variant not provided [RCV000089192] Chr12:102844410 [GRCh38]
Chr12:103238188 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.992T>G (p.Phe331Cys) single nucleotide variant not provided [RCV000089193] Chr12:102844409 [GRCh38]
Chr12:103238187 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.995G>A (p.Gly332Glu) single nucleotide variant not provided [RCV000089194] Chr12:102844406 [GRCh38]
Chr12:103238184 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1004A>C (p.Lys335Thr) single nucleotide variant Phenylketonuria [RCV000106338] Chr12:102844397 [GRCh38]
Chr12:103238175 [GRCh37]
Chr12:12q23.2
likely pathogenic|uncertain significance
NM_000277.3(PAH):c.1066-2A>T single nucleotide variant Phenylketonuria [RCV000106339] Chr12:102843781 [GRCh38]
Chr12:103237559 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic
NM_000277.3(PAH):c.1152C>G (p.Pro384=) single nucleotide variant Phenylketonuria [RCV000106340]|not provided [RCV000929022] Chr12:102843693 [GRCh38]
Chr12:103237471 [GRCh37]
Chr12:12q23.2
likely benign
NM_000277.3(PAH):c.1163T>C (p.Val388Ala) single nucleotide variant Phenylketonuria [RCV000106341] Chr12:102843682 [GRCh38]
Chr12:103237460 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_000277.3(PAH):c.1171A>G (p.Ser391Gly) single nucleotide variant Phenylketonuria [RCV000106342] Chr12:102843674 [GRCh38]
Chr12:103237452 [GRCh37]
Chr12:12q23.2
likely pathogenic|uncertain significance
NM_000277.3(PAH):c.1180G>T (p.Asp394Tyr) single nucleotide variant Phenylketonuria [RCV000106343] Chr12:102843665 [GRCh38]
Chr12:103237443 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_000277.3(PAH):c.1196T>C (p.Val399Ala) single nucleotide variant Phenylketonuria [RCV000106344] Chr12:102843649 [GRCh38]
Chr12:103237427 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_000277.3(PAH):c.1199+70G>A single nucleotide variant Phenylketonuria [RCV000106345] Chr12:102843576 [GRCh38]
Chr12:103237354 [GRCh37]
Chr12:12q23.2
likely benign
NM_000277.3(PAH):c.1240T>C (p.Tyr414His) single nucleotide variant Phenylketonuria [RCV000106346] Chr12:102840475 [GRCh38]
Chr12:103234253 [GRCh37]
Chr12:12q23.2
likely pathogenic|uncertain significance
NM_000277.3(PAH):c.164T>C (p.Phe55Ser) single nucleotide variant Phenylketonuria [RCV000106347] Chr12:102912795 [GRCh38]
Chr12:103306573 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_000277.3(PAH):c.169-42T>A single nucleotide variant Phenylketonuria [RCV000106348] Chr12:102894960 [GRCh38]
Chr12:103288738 [GRCh37]
Chr12:12q23.2
likely benign
NM_000277.3(PAH):c.169G>T (p.Glu57Ter) single nucleotide variant Phenylketonuria [RCV000106349] Chr12:102894918 [GRCh38]
Chr12:103288696 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic
NM_000277.3(PAH):c.183C>A (p.Asn61Lys) single nucleotide variant Phenylketonuria [RCV000106350] Chr12:102894904 [GRCh38]
Chr12:103288682 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_000277.3(PAH):c.196G>T (p.Glu66Ter) single nucleotide variant Phenylketonuria [RCV000106351] Chr12:102894891 [GRCh38]
Chr12:103288669 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer) duplication Phenylketonuria [RCV000106352] Chr12:102894875..102894876 [GRCh38]
Chr12:103288653..103288654 [GRCh37]
Chr12:12q23.2
likely pathogenic|uncertain significance
NM_000277.3(PAH):c.284_285delinsCA (p.Ile95Thr) indel Phenylketonuria [RCV000106353] Chr12:102894802..102894803 [GRCh38]
Chr12:103288580..103288581 [GRCh37]
Chr12:12q23.2
likely pathogenic|uncertain significance
NM_000277.3(PAH):c.350C>T (p.Thr117Ile) single nucleotide variant Phenylketonuria [RCV000106354] Chr12:102894737 [GRCh38]
Chr12:103288515 [GRCh37]
Chr12:12q23.2
likely pathogenic|uncertain significance
NM_000277.3(PAH):c.350del (p.Thr117fs) deletion Phenylketonuria [RCV000106355] Chr12:102894737 [GRCh38]
Chr12:103288515 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic
NM_000277.3(PAH):c.441+6T>A single nucleotide variant Phenylketonuria [RCV000106356] Chr12:102877456 [GRCh38]
Chr12:103271234 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_000277.3(PAH):c.442-2A>C single nucleotide variant Phenylketonuria [RCV000106357] Chr12:102866665 [GRCh38]
Chr12:103260443 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_000277.3(PAH):c.504C>A (p.Tyr168Ter) single nucleotide variant Phenylketonuria [RCV000106358] Chr12:102866601 [GRCh38]
Chr12:103260379 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic
NM_000277.3(PAH):c.547_548delinsTT (p.Glu183Leu) indel Phenylketonuria [RCV000106359] Chr12:102855294..102855295 [GRCh38]
Chr12:103249072..103249073 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_000277.3(PAH):c.568G>A (p.Val190Met) single nucleotide variant Phenylketonuria [RCV000106360] Chr12:102855274 [GRCh38]
Chr12:103249052 [GRCh37]
Chr12:12q23.2
likely pathogenic|uncertain significance
NM_000277.3(PAH):c.591G>C (p.Leu197Phe) single nucleotide variant Phenylketonuria [RCV000106361] Chr12:102855251 [GRCh38]
Chr12:103249029 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_000277.3(PAH):c.60+5G>A single nucleotide variant Phenylketonuria [RCV000106362] Chr12:102917066 [GRCh38]
Chr12:103310844 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_000277.3(PAH):c.612T>C (p.Tyr204=) single nucleotide variant Phenylketonuria [RCV000106363] Chr12:102855230 [GRCh38]
Chr12:103249008 [GRCh37]
Chr12:12q23.2
benign|likely benign
NM_000277.3(PAH):c.632C>T (p.Pro211Leu) single nucleotide variant Phenylketonuria [RCV000106364] Chr12:102855210 [GRCh38]
Chr12:103248988 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_000277.3(PAH):c.682G>A (p.Glu228Lys) single nucleotide variant Phenylketonuria [RCV000106365] Chr12:102855160 [GRCh38]
Chr12:103248938 [GRCh37]
Chr12:12q23.2
likely pathogenic|uncertain significance
NM_000277.3(PAH):c.785T>G (p.Val262Gly) single nucleotide variant Phenylketonuria [RCV000106366] Chr12:102852872 [GRCh38]
Chr12:103246650 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_000277.3(PAH):c.796A>C (p.Thr266Pro) single nucleotide variant Phenylketonuria [RCV000106367] Chr12:102852861 [GRCh38]
Chr12:103246639 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_000277.3(PAH):c.812A>T (p.His271Leu) single nucleotide variant Phenylketonuria [RCV000106368] Chr12:102852845 [GRCh38]
Chr12:103246623 [GRCh37]
Chr12:12q23.2
likely pathogenic|uncertain significance
NM_000277.3(PAH):c.837del (p.Glu280fs) deletion Phenylketonuria [RCV000106369] Chr12:102852820 [GRCh38]
Chr12:103246598 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic
NM_000277.3(PAH):c.841C>G (p.Pro281Ala) single nucleotide variant Phenylketonuria [RCV000106370] Chr12:102852816 [GRCh38]
Chr12:103246594 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_000277.3(PAH):c.869A>T (p.His290Leu) single nucleotide variant Phenylketonuria [RCV000106371] Chr12:102851730 [GRCh38]
Chr12:103245508 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_000277.3(PAH):c.887A>G (p.Asp296Gly) single nucleotide variant Phenylketonuria [RCV000106372] Chr12:102851712 [GRCh38]
Chr12:103245490 [GRCh37]
Chr12:12q23.2
likely pathogenic|uncertain significance
NM_000277.3(PAH):c.912+2T>C single nucleotide variant Global developmental delay [RCV001199241]|Phenylketonuria [RCV000106373] Chr12:102851685 [GRCh38]
Chr12:103245463 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic
NM_000277.3(PAH):c.912+3A>C single nucleotide variant Phenylketonuria [RCV000106374] Chr12:102851684 [GRCh38]
Chr12:103245462 [GRCh37]
Chr12:12q23.2
likely pathogenic|uncertain significance
NM_000277.3(PAH):c.913-3C>G single nucleotide variant Phenylketonuria [RCV000106375] Chr12:102846954 [GRCh38]
Chr12:103240732 [GRCh37]
Chr12:12q23.2
likely pathogenic|uncertain significance
NM_000277.3(PAH):c.913-8A>G single nucleotide variant Phenylketonuria [RCV000106376] Chr12:102846959 [GRCh38]
Chr12:103240737 [GRCh37]
Chr12:12q23.2
likely pathogenic|uncertain significance
NM_000277.3(PAH):c.916del (p.Ile306fs) deletion Phenylketonuria [RCV000106377] Chr12:102846948 [GRCh38]
Chr12:103240726 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic
NM_000277.3(PAH):c.927_928CT[2] (p.Leu311fs) microsatellite Phenylketonuria [RCV000106378] Chr12:102846932..102846933 [GRCh38]
Chr12:103240710..103240711 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic
NM_000277.3(PAH):c.970-1G>A single nucleotide variant Phenylketonuria [RCV000106379] Chr12:102844432 [GRCh38]
Chr12:103238210 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_000277.3(PAH):c.155del (p.Leu52fs) deletion Phenylketonuria [RCV000106392] Chr12:102912804 [GRCh38]
Chr12:103306582 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.1(PAH):c.169-1353C>A single nucleotide variant Lung cancer [RCV000110539] Chr12:102896271 [GRCh38]
Chr12:103290049 [GRCh37]
Chr12:12q23.2
uncertain significance
NM_000277.3(PAH):c.505C>T (p.Arg169Cys) single nucleotide variant Phenylketonuria [RCV000111461] Chr12:102866600 [GRCh38]
Chr12:103260378 [GRCh37]
Chr12:12q23.2
likely pathogenic
NM_000277.3(PAH):c.1039C>T (p.Leu347Phe) single nucleotide variant not provided [RCV000088719] Chr12:102844362 [GRCh38]
Chr12:103238140 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1043_1053del (p.Leu348fs) deletion not provided [RCV000088720] Chr12:102844348..102844358 [GRCh38]
Chr12:103238126..103238136 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1045T>G (p.Ser349Ala) single nucleotide variant not provided [RCV000088721] Chr12:102844356 [GRCh38]
Chr12:103238134 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1046C>A (p.Ser349Ter) single nucleotide variant Phenylketonuria [RCV001200004]|not provided [RCV000088722] Chr12:102844355 [GRCh38]
Chr12:103238133 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.1046C>T (p.Ser349Leu) single nucleotide variant Phenylketonuria [RCV001040702]|not provided [RCV000088723] Chr12:102844355 [GRCh38]
Chr12:103238133 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.1044_1047dup (p.Ser350fs) duplication not provided [RCV000088724] Chr12:102844353..102844354 [GRCh38]
Chr12:103238131..103238132 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1048T>A (p.Ser350Thr) single nucleotide variant not provided [RCV000088725] Chr12:102844353 [GRCh38]
Chr12:103238131 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1049C>A (p.Ser350Tyr) single nucleotide variant not provided [RCV000088726] Chr12:102844352 [GRCh38]
Chr12:103238130 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.1054G>C (p.Gly352Arg) single nucleotide variant not provided [RCV000088727] Chr12:102844347 [GRCh38]
Chr12:103238125 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1054G>T (p.Gly352Cys) single nucleotide variant not provided [RCV000088728] Chr12:102844347 [GRCh38]
Chr12:103238125 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1055del (p.Gly352fs) deletion Phenylketonuria [RCV000267428]|not provided [RCV000088729] Chr12:102844346 [GRCh38]
Chr12:103238124 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.1056del (p.Glu353fs) deletion Intellectual disability [RCV001252101]|not provided [RCV000088730] Chr12:102844345 [GRCh38]
Chr12:103238123 [GRCh37]
Chr12:12q23.2
likely benign|not provided
NM_000277.3(PAH):c.1063C>T (p.Gln355Ter) single nucleotide variant Phenylketonuria [RCV001234044]|not provided [RCV000088731] Chr12:102844338 [GRCh38]
Chr12:103238116 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.1065+1G>A single nucleotide variant Phenylketonuria [RCV000411856]|not provided [RCV000088732] Chr12:102844335 [GRCh38]
Chr12:103238113 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.1065+32T>A single nucleotide variant not provided [RCV000088733] Chr12:102844304 [GRCh38]
Chr12:103238082 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1065+39G>T single nucleotide variant Phenylketonuria [RCV000665017]|not provided [RCV000088734] Chr12:102844297 [GRCh38]
Chr12:103238075 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.1065+3A>C single nucleotide variant not provided [RCV000088735] Chr12:102844333 [GRCh38]
Chr12:103238111 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.1(PAH):c.1065+3A>G single nucleotide variant not provided [RCV000088736] Chr12:102844333 [GRCh38]
Chr12:103238111 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1065+7C>A single nucleotide variant not provided [RCV000088737] Chr12:102844329 [GRCh38]
Chr12:103238107 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1065+97G>A single nucleotide variant not provided [RCV000088738] Chr12:102844239 [GRCh38]
Chr12:103238017 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1066-14C>G single nucleotide variant not provided [RCV000088739] Chr12:102843793 [GRCh38]
Chr12:103237571 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1066-1G>A single nucleotide variant Phenylketonuria [RCV001199985]|not provided [RCV000088740] Chr12:102843780 [GRCh38]
Chr12:103237558 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.1066-31G>A single nucleotide variant Phenylketonuria [RCV000666911]|not provided [RCV000088741] Chr12:102843810 [GRCh38]
Chr12:103237588 [GRCh37]
Chr12:12q23.2
likely benign|not provided
NM_000277.1(PAH):c.1066-3C>T single nucleotide variant not provided [RCV000088742] Chr12:102843782 [GRCh38]
Chr12:103237560 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1066T>C (p.Tyr356His) single nucleotide variant not provided [RCV000088743] Chr12:102843779 [GRCh38]
Chr12:103237557 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.2(PAH):c.1066_1067ins6 insertion not provided [RCV000088744] Chr12:102843778..102843779 [GRCh38]
Chr12:103237556..103237557 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1069T>G (p.Cys357Gly) single nucleotide variant Phenylketonuria [RCV001199978]|not provided [RCV000088746] Chr12:102843776 [GRCh38]
Chr12:103237554 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.1084C>A (p.Pro362Thr) single nucleotide variant not provided [RCV000088748] Chr12:102843761 [GRCh38]
Chr12:103237539 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1087_1088del (p.Lys363fs) deletion not provided [RCV000088749] Chr12:102843757..102843758 [GRCh38]
Chr12:103237535..103237536 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1089G>T (p.Lys363Asn) single nucleotide variant Phenylketonuria [RCV000668925]|not provided [RCV000088750] Chr12:102843756 [GRCh38]
Chr12:103237534 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.1089del (p.Lys363fs) deletion Phenylketonuria [RCV000169397]|not provided [RCV000088751] Chr12:102843756 [GRCh38]
Chr12:103237534 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000277.1(PAH):c.1090_1092delCTT (p.Leu365del) deletion not provided [RCV000088752] Chr12:102843753..102843755 [GRCh38]
Chr12:103237531..103237533 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.1(PAH):c.1090_1104delCTTCTCCCCCTGGAG (p.Leu365_Leu369del) deletion not provided [RCV000088753] Chr12:102843741..102843755 [GRCh38]
Chr12:103237519..103237533 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1097C>A (p.Pro366His) single nucleotide variant Phenylketonuria [RCV000672118]|not provided [RCV000088754] Chr12:102843748 [GRCh38]
Chr12:103237526 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.1099del (p.Leu367fs) deletion Phenylketonuria [RCV000781680]|not provided [RCV000088757] Chr12:102843746 [GRCh38]
Chr12:103237524 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.1100T>C (p.Leu367Pro) single nucleotide variant Phenylketonuria [RCV000758106]|not provided [RCV000088758] Chr12:102843745 [GRCh38]
Chr12:103237523 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.1101G>A (p.Leu367=) single nucleotide variant Phenylketonuria [RCV000758108]|not provided [RCV000088759] Chr12:102843744 [GRCh38]
Chr12:103237522 [GRCh37]
Chr12:12q23.2
likely pathogenic|likely benign|not provided
NM_000277.3(PAH):c.1112A>G (p.Lys371Arg) single nucleotide variant not provided [RCV000088760] Chr12:102843733 [GRCh38]
Chr12:103237511 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser) single nucleotide variant Phenylketonuria [RCV000306209]|not provided [RCV000088761] Chr12:102843731 [GRCh38]
Chr12:103237509 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.1117G>A (p.Ala373Thr) single nucleotide variant not provided [RCV000088762] Chr12:102843728 [GRCh38]
Chr12:103237506 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1117_1118del (p.Ala373fs) deletion not provided [RCV000088763] Chr12:102843727..102843728 [GRCh38]
Chr12:103237505..103237506 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1127del (p.Asn376fs) deletion not provided [RCV000088765] Chr12:102843718 [GRCh38]
Chr12:103237496 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.1(PAH):c.1129delT (p.Tyr377Thrfs) deletion not provided [RCV000088766] Chr12:102843716 [GRCh38]
Chr12:103237494 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1130A>G (p.Tyr377Cys) single nucleotide variant not provided [RCV000088767] Chr12:102843715 [GRCh38]
Chr12:103237493 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1132A>T (p.Thr378Ser) single nucleotide variant Phenylketonuria [RCV001200006]|not provided [RCV000088768] Chr12:102843713 [GRCh38]
Chr12:103237491 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.1155= (p.Leu385=) single nucleotide variant Phenylketonuria [RCV001084011]|not provided [RCV000088769] Chr12:102843690 [GRCh38]
Chr12:103237468 [GRCh37]
Chr12:12q23.2
benign|not provided
NM_000277.3(PAH):c.1156T>G (p.Tyr386Asp) single nucleotide variant Phenylketonuria [RCV001239036]|not provided [RCV000088770] Chr12:102843689 [GRCh38]
Chr12:103237467 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys) single nucleotide variant Phenylketonuria [RCV000169306]|not provided [RCV000088771] Chr12:102843688 [GRCh38]
Chr12:103237466 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.1159T>C (p.Tyr387His) single nucleotide variant not provided [RCV000088772] Chr12:102843686 [GRCh38]
Chr12:103237464 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.1(PAH):c.115_117delTTC (p.Phe39del) deletion not provided [RCV000088773] Chr12:102912842..102912844 [GRCh38]
Chr12:103306620..103306622 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1162G>C (p.Val388Leu) single nucleotide variant not provided [RCV000088775] Chr12:102843683 [GRCh38]
Chr12:103237461 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.1163_1164del (p.Val388fs) deletion not provided [RCV000088776] Chr12:102843681..102843682 [GRCh38]
Chr12:103237459..103237460 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1166del (p.Ala389fs) deletion Phenylketonuria [RCV000669467]|not provided [RCV000088777] Chr12:102843679 [GRCh38]
Chr12:103237457 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.1175T>C (p.Phe392Ser) single nucleotide variant not provided [RCV000088778] Chr12:102843670 [GRCh38]
Chr12:103237448 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1180G>C (p.Asp394His) single nucleotide variant Phenylketonuria [RCV000714571]|not provided [RCV000088779] Chr12:102843665 [GRCh38]
Chr12:103237443 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.1181A>C (p.Asp394Ala) single nucleotide variant not provided [RCV000088780] Chr12:102843664 [GRCh38]
Chr12:103237442 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1183G>C (p.Ala395Pro) single nucleotide variant Phenylketonuria [RCV000781679]|not provided [RCV000088781] Chr12:102843662 [GRCh38]
Chr12:103237440 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.1184C>A (p.Ala395Asp) single nucleotide variant not provided [RCV000088782] Chr12:102843661 [GRCh38]
Chr12:103237439 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) single nucleotide variant Phenylketonuria [RCV000410586]|not provided [RCV000088783] Chr12:102843661 [GRCh38]
Chr12:103237439 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.1194A>G (p.Lys398=) single nucleotide variant not provided [RCV000088784] Chr12:102843651 [GRCh38]
Chr12:103237429 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1196_1199del (p.Val399fs) deletion not provided [RCV000088785] Chr12:102843646..102843649 [GRCh38]
Chr12:103237424..103237427 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.1(PAH):c.1197A>T (p.Val399=) single nucleotide variant not provided [RCV000088786] Chr12:102843648 [GRCh38]
Chr12:103237426 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1198A>C (p.Arg400=) single nucleotide variant Phenylketonuria [RCV000671619]|not provided [RCV000088787] Chr12:102843647 [GRCh38]
Chr12:103237425 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.1198del (p.Arg400fs) deletion Phenylketonuria [RCV000671992]|not provided [RCV000088788] Chr12:102843647 [GRCh38]
Chr12:103237425 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.1199+17G>A single nucleotide variant Phenylketonuria [RCV000316500]|not provided [RCV000088789] Chr12:102843629 [GRCh38]
Chr12:103237407 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.1199+1G>A single nucleotide variant Phenylketonuria [RCV000632882]|not provided [RCV000088790] Chr12:102843645 [GRCh38]
Chr12:103237423 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.1199+1G>C single nucleotide variant Phenylketonuria [RCV000169248]|not provided [RCV000088791] Chr12:102843645 [GRCh38]
Chr12:103237423 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000277.3(PAH):c.1199+20G>C single nucleotide variant not provided [RCV000088792] Chr12:102843626 [GRCh38]
Chr12:103237404 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1199+2T>C single nucleotide variant not provided [RCV000088793] Chr12:102843644 [GRCh38]
Chr12:103237422 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1199+5G>T single nucleotide variant not provided [RCV000088794] Chr12:102843641 [GRCh38]
Chr12:103237419 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1199G>A (p.Arg400Lys) single nucleotide variant Phenylketonuria [RCV000672156]|not provided [RCV000088795] Chr12:102843646 [GRCh38]
Chr12:103237424 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.1199G>C (p.Arg400Thr) single nucleotide variant not provided [RCV000088796] Chr12:102843646 [GRCh38]
Chr12:103237424 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.119C>T (p.Ser40Leu) single nucleotide variant not provided [RCV000088797] Chr12:102912840 [GRCh38]
Chr12:103306618 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.2(PAH):c.1200-1delG deletion not provided [RCV000088798] Chr12:102840515 [GRCh38]
Chr12:103234293 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1200-8G>A single nucleotide variant Phenylketonuria [RCV000525956]|not provided [RCV000088799] Chr12:102840523 [GRCh38]
Chr12:103234301 [GRCh37]
Chr12:12q23.2
likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000277.3(PAH):c.1204T>C (p.Phe402Leu) single nucleotide variant not provided [RCV000088800] Chr12:102840511 [GRCh38]
Chr12:103234289 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1217T>C (p.Ile406Thr) single nucleotide variant Phenylketonuria [RCV000758128]|not provided [RCV000088801] Chr12:102840498 [GRCh38]
Chr12:103234276 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.1219C>T (p.Pro407Ser) single nucleotide variant Phenylketonuria [RCV000672236]|not provided [RCV000088802] Chr12:102840496 [GRCh38]
Chr12:103234274 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.121C>T (p.Leu41Phe) single nucleotide variant Phenylketonuria [RCV000697659]|not provided [RCV000088803] Chr12:102912838 [GRCh38]
Chr12:103306616 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.1220del (p.Pro407fs) deletion not provided [RCV000088805] Chr12:102840495 [GRCh38]
Chr12:103234273 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1229T>C (p.Phe410Ser) single nucleotide variant Phenylketonuria [RCV000665363]|not provided [RCV000088807] Chr12:102840486 [GRCh38]
Chr12:103234264 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.1229T>G (p.Phe410Cys) single nucleotide variant not provided [RCV000088808] Chr12:102840486 [GRCh38]
Chr12:103234264 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.122T>C (p.Leu41Pro) single nucleotide variant Phenylketonuria [RCV001093507]|not provided [RCV000088809] Chr12:102912837 [GRCh38]
Chr12:103306615 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.1232C>A (p.Ser411Ter) single nucleotide variant not provided [RCV000088810] Chr12:102840483 [GRCh38]
Chr12:103234261 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1237C>A (p.Arg413Ser) single nucleotide variant not provided [RCV000088811] Chr12:102840478 [GRCh38]
Chr12:103234256 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1237C>T (p.Arg413Cys) single nucleotide variant not provided [RCV000088812] Chr12:102840478 [GRCh38]
Chr12:103234256 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) single nucleotide variant Phenylketonuria [RCV000541061]|not provided [RCV000088814]|not specified [RCV000174235] Chr12:102840473 [GRCh38]
Chr12:103234251 [GRCh37]
Chr12:12q23.2
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000277.3(PAH):c.1249T>A (p.Tyr417Asn) single nucleotide variant not provided [RCV000088816] Chr12:102840466 [GRCh38]
Chr12:103234244 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1249T>C (p.Tyr417His) single nucleotide variant not provided [RCV000088817] Chr12:102840466 [GRCh38]
Chr12:103234244 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.1252A>C (p.Thr418Pro) single nucleotide variant Phenylketonuria [RCV000672448]|not provided [RCV000088818] Chr12:102840463 [GRCh38]
Chr12:103234241 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.125A>T (p.Lys42Ile) single nucleotide variant Phenylketonuria [RCV000993605]|not provided [RCV000088819] Chr12:102912834 [GRCh38]
Chr12:103306612 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.1262T>C (p.Ile421Thr) single nucleotide variant not provided [RCV000088820] Chr12:102840453 [GRCh38]
Chr12:103234231 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1264G>A (p.Glu422Lys) single nucleotide variant Phenylketonuria [RCV001199987]|not provided [RCV000088821] Chr12:102840451 [GRCh38]
Chr12:103234229 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.1271T>C (p.Leu424Ser) single nucleotide variant Phenylketonuria [RCV000993606]|not provided [RCV000088822] Chr12:102840444 [GRCh38]
Chr12:103234222 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.1289T>C (p.Leu430Pro) single nucleotide variant not provided [RCV000088824] Chr12:102840426 [GRCh38]
Chr12:103234204 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp) single nucleotide variant Phenylketonuria [RCV000169393]|not provided [RCV000088825] Chr12:102840414 [GRCh38]
Chr12:103234192 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.1(PAH):c.130_132delGAA (p.Glu44del) deletion not provided [RCV000088826] Chr12:102912827..102912829 [GRCh38]
Chr12:103306605..103306607 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1315+2T>C single nucleotide variant Phenylketonuria [RCV000169029]|not provided [RCV000088827] Chr12:102840398 [GRCh38]
Chr12:103234176 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.1315+4A>G single nucleotide variant Phenylketonuria [RCV000672561]|not provided [RCV000088828] Chr12:102840396 [GRCh38]
Chr12:103234174 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.1315+6T>A single nucleotide variant Phenylketonuria [RCV000668481]|not provided [RCV000088829] Chr12:102840394 [GRCh38]
Chr12:103234172 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.1316-15T>C single nucleotide variant not provided [RCV000088830] Chr12:102839233 [GRCh38]
Chr12:103233011 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.1316-35C>T single nucleotide variant Phenylketonuria [RCV001199990]|not provided [RCV000088831]|not specified [RCV000251588] Chr12:102839253 [GRCh38]
Chr12:103233031 [GRCh37]
Chr12:12q23.2
benign|not provided
NM_000277.3(PAH):c.1316-5T>C single nucleotide variant not provided [RCV000088832]|not specified [RCV000423424] Chr12:102839223 [GRCh38]
Chr12:103233001 [GRCh37]
Chr12:12q23.2
likely benign|not provided
NM_000277.3(PAH):c.125_127AAG[2] (p.Glu44del) microsatellite Phenylketonuria [RCV000666206]|not provided [RCV000088833] Chr12:102912826..102912828 [GRCh38]
Chr12:103306604..103306606 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.1340C>A (p.Ala447Asp) single nucleotide variant Phenylketonuria [RCV000632880]|not provided [RCV000088834] Chr12:102839194 [GRCh38]
Chr12:103232972 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.137del (p.Gly46fs) deletion Phenylketonuria [RCV000993607]|not provided [RCV000088837] Chr12:102912822 [GRCh38]
Chr12:103306600 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.140C>A (p.Ala47Glu) single nucleotide variant not provided [RCV000088838] Chr12:102912819 [GRCh38]
Chr12:103306597 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.155T>C (p.Leu52Ser) single nucleotide variant not provided [RCV000088840] Chr12:102912804 [GRCh38]
Chr12:103306582 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.157C>T (p.Arg53Cys) single nucleotide variant Phenylketonuria [RCV000664566]|not provided [RCV000088841] Chr12:102912802 [GRCh38]
Chr12:103306580 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.158G>A (p.Arg53His) single nucleotide variant Phenylketonuria [RCV000490373]|not provided [RCV000088842]|not specified [RCV001175359] Chr12:102912801 [GRCh38]
Chr12:103306579 [GRCh37]
Chr12:12q23.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000277.3(PAH):c.161T>C (p.Leu54Ser) single nucleotide variant Phenylketonuria [RCV000669099]|not provided [RCV000088843] Chr12:102912798 [GRCh38]
Chr12:103306576 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.163_165del (p.Phe55del) deletion not provided [RCV000088844] Chr12:102912794..102912796 [GRCh38]
Chr12:103306572..103306574 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.168+1G>A single nucleotide variant Phenylketonuria [RCV000169163]|not provided [RCV000088846] Chr12:102912790 [GRCh38]
Chr12:103306568 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.168+5G>A single nucleotide variant Phenylketonuria [RCV000666582]|not provided [RCV000088847] Chr12:102912786 [GRCh38]
Chr12:103306564 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.168+5G>C single nucleotide variant Phenylketonuria [RCV000350592]|not provided [RCV000088848] Chr12:102912786 [GRCh38]
Chr12:103306564 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.168+5G>T single nucleotide variant Phenylketonuria [RCV000993608]|not provided [RCV000088849] Chr12:102912786 [GRCh38]
Chr12:103306564 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.168+6T>G single nucleotide variant Phenylketonuria [RCV000993609]|not provided [RCV000088850] Chr12:102912785 [GRCh38]
Chr12:103306563 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.168G>A (p.Glu56=) single nucleotide variant Phenylketonuria [RCV001093508]|not provided [RCV000088851]|not specified [RCV000249357] Chr12:102912791 [GRCh38]
Chr12:103306569 [GRCh37]
Chr12:12q23.2
likely benign|uncertain significance|not provided
NM_000277.3(PAH):c.168G>T (p.Glu56Asp) single nucleotide variant not provided [RCV000088852] Chr12:102912791 [GRCh38]
Chr12:103306569 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.169-13T>G single nucleotide variant Phenylketonuria [RCV000778351]|not provided [RCV000088853] Chr12:102894931 [GRCh38]
Chr12:103288709 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.1(PAH):c.169-?_352+?del deletion not provided [RCV000088854]   not provided
NM_000277.2(PAH):c.169_171delGAG (p.Glu57del) deletion Phenylketonuria [RCV000993610]|not provided [RCV000088855] Chr12:102894916..102894918 [GRCh38]
Chr12:103288694..103288696 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.1(PAH):c.169_352del184 (p.Glu57Cysfs) deletion not provided [RCV000088856] Chr12:102894735..102894918 [GRCh38]
Chr12:103288513..103288696 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.175G>T (p.Asp59Tyr) single nucleotide variant not provided [RCV000088857] Chr12:102894912 [GRCh38]
Chr12:103288690 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.176A>G (p.Asp59Gly) single nucleotide variant Phenylketonuria [RCV000758114]|not provided [RCV000088858] Chr12:102894911 [GRCh38]
Chr12:103288689 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.181A>G (p.Asn61Asp) single nucleotide variant not provided [RCV000088859] Chr12:102894906 [GRCh38]
Chr12:103288684 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.183C>G (p.Asn61Lys) single nucleotide variant Phenylketonuria [RCV001199974]|not provided [RCV000088860] Chr12:102894904 [GRCh38]
Chr12:103288682 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.187A>C (p.Thr63Pro) single nucleotide variant Phenylketonuria [RCV000758120]|not provided [RCV000088861] Chr12:102894900 [GRCh38]
Chr12:103288678 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.190C>A (p.His64Asn) single nucleotide variant Phenylketonuria [RCV000758122]|not provided [RCV000088862] Chr12:102894897 [GRCh38]
Chr12:103288675 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.190del (p.His64fs) deletion not provided [RCV000088863] Chr12:102894897 [GRCh38]
Chr12:103288675 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.193A>G (p.Ile65Val) single nucleotide variant Phenylketonuria [RCV000803656]|not provided [RCV000088864] Chr12:102894894 [GRCh38]
Chr12:103288672 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.194T>A (p.Ile65Asn) single nucleotide variant Phenylketonuria [RCV000758100]|not provided [RCV000088865] Chr12:102894893 [GRCh38]
Chr12:103288671 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.194T>G (p.Ile65Ser) single nucleotide variant not provided [RCV000088866] Chr12:102894893 [GRCh38]
Chr12:103288671 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.199T>C (p.Ser67Pro) single nucleotide variant Phenylketonuria [RCV001260324]|not provided [RCV000088867] Chr12:102894888 [GRCh38]
Chr12:103288666 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.1A>T (p.Met1Leu) single nucleotide variant Phenylketonuria [RCV000993611]|not provided [RCV000088869] Chr12:102917130 [GRCh38]
Chr12:103310908 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.202A>G (p.Arg68Gly) single nucleotide variant not provided [RCV000088870] Chr12:102894885 [GRCh38]
Chr12:103288663 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.205C>T (p.Pro69Ser) single nucleotide variant not provided [RCV000088871] Chr12:102894882 [GRCh38]
Chr12:103288660 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.1(PAH):c.206_208delCTT (p.Ser70del) deletion not provided [RCV000088872] Chr12:102894879..102894881 [GRCh38]
Chr12:103288657..103288659 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.1(PAH):c.207_209delTTC (p.Ser70del) deletion not provided [RCV000088873] Chr12:102894878..102894880 [GRCh38]
Chr12:103288656..103288658 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.208T>C (p.Ser70Pro) single nucleotide variant not provided [RCV000088874] Chr12:102894879 [GRCh38]
Chr12:103288657 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.208_210del (p.Ser70del) deletion Phenylketonuria [RCV000411181]|not provided [RCV000088875] Chr12:102894877..102894879 [GRCh38]
Chr12:103288655..103288657 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.212G>A (p.Arg71His) single nucleotide variant Phenylketonuria [RCV000672919]|not provided [RCV000088876] Chr12:102894875 [GRCh38]
Chr12:103288653 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000277.3(PAH):c.227A>C (p.Glu76Ala) single nucleotide variant not provided [RCV000088877] Chr12:102894860 [GRCh38]
Chr12:103288638 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.231T>G (p.Tyr77Ter) single nucleotide variant not provided [RCV000088879] Chr12:102894856 [GRCh38]
Chr12:103288634 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.232G>A (p.Glu78Lys) single nucleotide variant not provided [RCV000088880] Chr12:102894855 [GRCh38]
Chr12:103288633 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.241A>C (p.Thr81Pro) single nucleotide variant Phenylketonuria [RCV001192889]|not provided [RCV000088881] Chr12:102894846 [GRCh38]
Chr12:103288624 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.241_256del (p.Thr81fs) deletion not provided [RCV000088882] Chr12:102894831..102894846 [GRCh38]
Chr12:103288609..103288624 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr) single nucleotide variant Phenylketonuria [RCV000761308]|not provided [RCV000088883] Chr12:102894837 [GRCh38]
Chr12:103288615 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.265C>T (p.Pro89Ser) single nucleotide variant not provided [RCV000088886] Chr12:102894822 [GRCh38]
Chr12:103288600 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.275C>T (p.Thr92Ile) single nucleotide variant not provided [RCV000088888] Chr12:102894812 [GRCh38]
Chr12:103288590 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.281T>G (p.Ile94Ser) single nucleotide variant Phenylketonuria [RCV000673537]|not provided [RCV000088889] Chr12:102894806 [GRCh38]
Chr12:103288584 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.283A>T (p.Ile95Phe) single nucleotide variant Phenylketonuria [RCV000763292]|not provided [RCV000088890] Chr12:102894804 [GRCh38]
Chr12:103288582 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.1(PAH):c.283_285delATC (p.Ile95del) deletion not provided [RCV000088891] Chr12:102894802..102894804 [GRCh38]
Chr12:103288580..103288582 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.2T>G (p.Met1Arg) single nucleotide variant Phenylketonuria [RCV000993612]|not provided [RCV000088893] Chr12:102917129 [GRCh38]
Chr12:103310907 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.305T>C (p.Ile102Thr) single nucleotide variant not provided [RCV000088894] Chr12:102894782 [GRCh38]
Chr12:103288560 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.30C>G (p.Gly10=) single nucleotide variant Phenylketonuria [RCV000779088]|not provided [RCV000088895] Chr12:102917101 [GRCh38]
Chr12:103310879 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) single nucleotide variant Phenylketonuria [RCV000349567]|not provided [RCV000088896] Chr12:102894776 [GRCh38]
Chr12:103288554 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.329C>T (p.Ser110Leu) single nucleotide variant not provided [RCV000088897] Chr12:102894758 [GRCh38]
Chr12:103288536 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.340_343AAGA[1] (p.Lys115fs) microsatellite Phenylketonuria [RCV001175457]|not provided [RCV000088899] Chr12:102894740..102894743 [GRCh38]
Chr12:103288518..103288521 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.352+1G>A single nucleotide variant not provided [RCV000088900] Chr12:102894734 [GRCh38]
Chr12:103288512 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.353-22C>T single nucleotide variant Phenylketonuria [RCV001199988]|not provided [RCV000088901]|not specified [RCV000254369] Chr12:102877572 [GRCh38]
Chr12:103271350 [GRCh37]
Chr12:12q23.2
benign|not provided
NM_000277.3(PAH):c.353-6T>A single nucleotide variant not provided [RCV000088902] Chr12:102877556 [GRCh38]
Chr12:103271334 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.359G>A (p.Trp120Ter) single nucleotide variant Phenylketonuria [RCV001199994]|not provided [RCV000088903] Chr12:102877544 [GRCh38]
Chr12:103271322 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.365C>A (p.Pro122Gln) single nucleotide variant not provided [RCV000088904] Chr12:102877538 [GRCh38]
Chr12:103271316 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.368G>T (p.Arg123Ile) single nucleotide variant Phenylketonuria [RCV000666513]|not provided [RCV000088905] Chr12:102877535 [GRCh38]
Chr12:103271313 [GRCh37]
Chr12:12q23.2
pathogenic|uncertain significance|not provided
NM_000277.3(PAH):c.371C>T (p.Thr124Ile) single nucleotide variant not provided [RCV000088906] Chr12:102877532 [GRCh38]
Chr12:103271310 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr) single nucleotide variant Phenylketonuria [RCV000811501]|not provided [RCV000088907] Chr12:102877518 [GRCh38]
Chr12:103271296 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.386A>G (p.Asp129Gly) single nucleotide variant Phenylketonuria [RCV000672629]|not provided [RCV000088908] Chr12:102877517 [GRCh38]
Chr12:103271295 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.386A>T (p.Asp129Val) single nucleotide variant Phenylketonuria [RCV001093517]|not provided [RCV000088909] Chr12:102877517 [GRCh38]
Chr12:103271295 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.398_401del (p.Asn133fs) deletion Phenylketonuria [RCV000531628]|not provided [RCV000088910] Chr12:102877502..102877505 [GRCh38]
Chr12:103271280..103271283 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.400C>T (p.Gln134Ter) single nucleotide variant Phenylketonuria [RCV000169559]|not provided [RCV000088912] Chr12:102877503 [GRCh38]
Chr12:103271281 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.411C>T (p.Ser137=) single nucleotide variant Phenylketonuria [RCV001114784]|not provided [RCV000088913] Chr12:102877492 [GRCh38]
Chr12:103271270 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.428A>G (p.Asp143Gly) single nucleotide variant Phenylketonuria [RCV001209954]|not provided [RCV000088914] Chr12:102877475 [GRCh38]
Chr12:103271253 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.434A>T (p.Asp145Val) single nucleotide variant Phenylketonuria [RCV000546355]|not provided [RCV000088915] Chr12:102877469 [GRCh38]
Chr12:103271247 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.436C>T (p.His146Tyr) single nucleotide variant not provided [RCV000088916] Chr12:102877467 [GRCh38]
Chr12:103271245 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.439C>T (p.Pro147Ser) single nucleotide variant Phenylketonuria [RCV000674963]|not provided [RCV000088917] Chr12:102877464 [GRCh38]
Chr12:103271242 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.440C>T (p.Pro147Leu) single nucleotide variant Phenylketonuria [RCV000595460]|not provided [RCV000088918] Chr12:102877463 [GRCh38]
Chr12:103271241 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.441+1G>A single nucleotide variant Phenylketonuria [RCV000169579]|not provided [RCV000088919] Chr12:102877461 [GRCh38]
Chr12:103271239 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000277.3(PAH):c.441+3G>C single nucleotide variant Phenylketonuria [RCV000665892]|not provided [RCV000088920] Chr12:102877459 [GRCh38]
Chr12:103271237 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.441+47C>T single nucleotide variant not provided [RCV000088921]|not specified [RCV000244724] Chr12:102877415 [GRCh38]
Chr12:103271193 [GRCh37]
Chr12:12q23.2
benign|not provided
NM_000277.3(PAH):c.441+4A>G single nucleotide variant Phenylketonuria [RCV000669322]|not provided [RCV000088922] Chr12:102877458 [GRCh38]
Chr12:103271236 [GRCh37]
Chr12:12q23.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000277.3(PAH):c.441+6T>C single nucleotide variant not provided [RCV000088923] Chr12:102877456 [GRCh38]
Chr12:103271234 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.1(PAH):c.442-1G>A single nucleotide variant not provided [RCV000088924] Chr12:102866664 [GRCh38]
Chr12:103260442 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.442-5C>G single nucleotide variant Phenylketonuria [RCV000801016]|not provided [RCV000088925] Chr12:102866668 [GRCh38]
Chr12:103260446 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.1(PAH):c.442-?_509+?del deletion not provided [RCV000088926]   not provided
NM_000277.3(PAH):c.442G>A (p.Gly148Ser) single nucleotide variant Phenylketonuria [RCV001053534]|not provided [RCV000088928] Chr12:102866663 [GRCh38]
Chr12:103260441 [GRCh37]
Chr12:12q23.2
likely pathogenic|uncertain significance|not provided
NM_000277.3(PAH):c.443_509+1del deletion not provided [RCV000088929] Chr12:102866595..102866662 [GRCh38]
Chr12:103260373..103260440 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.451G>C (p.Asp151His) single nucleotide variant not provided [RCV000088930] Chr12:102866654 [GRCh38]
Chr12:103260432 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.452A>G (p.Asp151Gly) single nucleotide variant not provided [RCV000088931] Chr12:102866653 [GRCh38]
Chr12:103260431 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.460T>A (p.Tyr154Asn) single nucleotide variant Phenylketonuria [RCV001093515]|not provided [RCV000088932] Chr12:102866645 [GRCh38]
Chr12:103260423 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.460T>C (p.Tyr154His) single nucleotide variant Phenylketonuria [RCV001093509]|not provided [RCV000088933] Chr12:102866645 [GRCh38]
Chr12:103260423 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.464G>A (p.Arg155His) single nucleotide variant Phenylketonuria [RCV000632881]|not provided [RCV000088934] Chr12:102866641 [GRCh38]
Chr12:103260419 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.464G>C (p.Arg155Pro) single nucleotide variant Phenylketonuria [RCV000675156]|not provided [RCV000088935] Chr12:102866641 [GRCh38]
Chr12:103260419 [GRCh37]
Chr12:12q23.2
likely pathogenic|uncertain significance|not provided
NM_000277.3(PAH):c.466G>C (p.Ala156Pro) single nucleotide variant not provided [RCV000088936] Chr12:102866639 [GRCh38]
Chr12:103260417 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.46T>C (p.Ser16Pro) single nucleotide variant Phenylketonuria [RCV000993613]|not provided [RCV000088937] Chr12:102917085 [GRCh38]
Chr12:103310863 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.470G>A (p.Arg157Lys) single nucleotide variant not provided [RCV000088938] Chr12:102866635 [GRCh38]
Chr12:103260413 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.470G>T (p.Arg157Ile) single nucleotide variant not provided [RCV000088939] Chr12:102866635 [GRCh38]
Chr12:103260413 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.471A>C (p.Arg157Ser) single nucleotide variant not provided [RCV000088940] Chr12:102866634 [GRCh38]
Chr12:103260412 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.472C>T (p.Arg158Trp) single nucleotide variant Phenylketonuria [RCV000409986]|not provided [RCV000088941] Chr12:102866633 [GRCh38]
Chr12:103260411 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.473G>C (p.Arg158Pro) single nucleotide variant Phenylketonuria [RCV000758092]|not provided [RCV000088942] Chr12:102866632 [GRCh38]
Chr12:103260410 [GRCh37]
Chr12:12q23.2
likely pathogenic|uncertain significance|not provided
NM_000277.3(PAH):c.479A>C (p.Gln160Pro) single nucleotide variant not provided [RCV000088943] Chr12:102866626 [GRCh38]
Chr12:103260404 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.43_44CT[2] (p.Leu15_Ser16insTer) microsatellite Phenylketonuria [RCV000153638]|not provided [RCV000088944] Chr12:102917083..102917084 [GRCh38]
Chr12:103310861..103310862 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_000277.3(PAH):c.482T>C (p.Phe161Ser) single nucleotide variant Phenylketonuria [RCV000674841]|not provided [RCV000088945] Chr12:102866623 [GRCh38]
Chr12:103260401 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.490A>G (p.Ile164Val) single nucleotide variant Phenylketonuria [RCV000535090]|not provided [RCV000088946] Chr12:102866615 [GRCh38]
Chr12:103260393 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000277.3(PAH):c.491T>C (p.Ile164Thr) single nucleotide variant not provided [RCV000088947] Chr12:102866614 [GRCh38]
Chr12:103260392 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.493G>A (p.Ala165Thr) single nucleotide variant Phenylketonuria [RCV000993614]|not provided [RCV000088948] Chr12:102866612 [GRCh38]
Chr12:103260390 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.493G>C (p.Ala165Pro) single nucleotide variant Phenylketonuria [RCV000672775]|not provided [RCV000088949] Chr12:102866612 [GRCh38]
Chr12:103260390 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.498C>A (p.Tyr166Ter) single nucleotide variant Phenylketonuria [RCV000993615]|not provided [RCV000088950] Chr12:102866607 [GRCh38]
Chr12:103260385 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) single nucleotide variant Phenylketonuria [RCV000148722]|not provided [RCV000088951] Chr12:102866605 [GRCh38]
Chr12:103260383 [GRCh37]
Chr12:12q23.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000277.3(PAH):c.502T>C (p.Tyr168His) single nucleotide variant not provided [RCV000088952] Chr12:102866603 [GRCh38]
Chr12:103260381 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.503del (p.Tyr168fs) deletion Phenylketonuria [RCV000375882]|not provided [RCV000088953] Chr12:102866602 [GRCh38]
Chr12:103260380 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.506G>A (p.Arg169His) single nucleotide variant Phenylketonuria [RCV000311018]|not provided [RCV000088954] Chr12:102866599 [GRCh38]
Chr12:103260377 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000277.3(PAH):c.509+1G>A single nucleotide variant Phenylketonuria [RCV001057888]|not provided [RCV000088955] Chr12:102866595 [GRCh38]
Chr12:103260373 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.509+1del deletion not provided [RCV000088956] Chr12:102866595 [GRCh38]
Chr12:103260373 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.509+54C>G single nucleotide variant not provided [RCV000088957] Chr12:102866542 [GRCh38]
Chr12:103260320 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.509+5del deletion not provided [RCV000088958] Chr12:102866591 [GRCh38]
Chr12:103260369 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.509A>G (p.His170Arg) single nucleotide variant not provided [RCV000088959] Chr12:102866596 [GRCh38]
Chr12:103260374 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.510-54G>A single nucleotide variant Phenylketonuria [RCV001199989]|not provided [RCV000088960] Chr12:102855386 [GRCh38]
Chr12:103249164 [GRCh37]
Chr12:12q23.2
benign|not provided
NM_000277.3(PAH):c.510-6T>A single nucleotide variant not provided [RCV000088961] Chr12:102855338 [GRCh38]
Chr12:103249116 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.510-6T>G single nucleotide variant not provided [RCV000088962] Chr12:102855338 [GRCh38]
Chr12:103249116 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.510T>A (p.His170Gln) single nucleotide variant Phenylketonuria [RCV001048510]|not provided [RCV000088963] Chr12:102855332 [GRCh38]
Chr12:103249110 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.511G>A (p.Gly171Arg) single nucleotide variant Phenylketonuria [RCV000560269]|not provided [RCV000088964] Chr12:102855331 [GRCh38]
Chr12:103249109 [GRCh37]
Chr12:12q23.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000277.3(PAH):c.512G>C (p.Gly171Ala) single nucleotide variant not provided [RCV000088965] Chr12:102855330 [GRCh38]
Chr12:103249108 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.514C>T (p.Gln172Ter) single nucleotide variant Phenylketonuria [RCV001238801]|not provided [RCV000088966] Chr12:102855328 [GRCh38]
Chr12:103249106 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.517C>A (p.Pro173Thr) single nucleotide variant not provided [RCV000088967] Chr12:102855325 [GRCh38]
Chr12:103249103 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.520A>G (p.Ile174Val) single nucleotide variant Phenylketonuria [RCV000675155]|not provided [RCV000088968] Chr12:102855322 [GRCh38]
Chr12:103249100 [GRCh37]
Chr12:12q23.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000277.3(PAH):c.521T>C (p.Ile174Thr) single nucleotide variant Phenylketonuria [RCV000993616]|not provided [RCV000088969] Chr12:102855321 [GRCh38]
Chr12:103249099 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.523C>G (p.Pro175Ala) single nucleotide variant Phenylketonuria [RCV001093516]|not provided [RCV000088970] Chr12:102855319 [GRCh38]
Chr12:103249097 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) single nucleotide variant Phenylketonuria [RCV000179282]|not provided [RCV000088971] Chr12:102855316 [GRCh38]
Chr12:103249094 [GRCh37]
Chr12:12q23.2
pathogenic|not provided
NM_000277.3(PAH):c.527G>A (p.Arg176Gln) single nucleotide variant Phenylketonuria [RCV000810165]|not provided [RCV000088972] Chr12:102855315 [GRCh38]
Chr12:103249093 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.527G>C (p.Arg176Pro) single nucleotide variant not provided [RCV000088973] Chr12:102855315 [GRCh38]
Chr12:103249093 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.529G>A (p.Val177Met) single nucleotide variant Hyperphenylalaninemia, non-pku [RCV000589313]|Phenylketonuria [RCV000534379]|not provided [RCV000088975] Chr12:102855313 [GRCh38]
Chr12:103249091 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.529G>C (p.Val177Leu) single nucleotide variant Phenylketonuria [RCV000669836]|not provided [RCV000088976] Chr12:102855313 [GRCh38]
Chr12:103249091 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.533A>T (p.Glu178Val) single nucleotide variant not provided [RCV000088977] Chr12:102855309 [GRCh38]
Chr12:103249087 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.535T>A (p.Tyr179Asn) single nucleotide variant Phenylketonuria [RCV000721182]|not provided [RCV000088978] Chr12:102855307 [GRCh38]
Chr12:103249085 [GRCh37]
Chr12:12q23.2
likely pathogenic|uncertain significance|not provided
NM_000277.3(PAH):c.535T>C (p.Tyr179His) single nucleotide variant not provided [RCV000088979] Chr12:102855307 [GRCh38]
Chr12:103249085 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.545A>G (p.Glu182Gly) single nucleotide variant Phenylketonuria [RCV001248714]|not provided [RCV000088980] Chr12:102855297 [GRCh38]
Chr12:103249075 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.547G>C (p.Glu183Gln) single nucleotide variant not provided [RCV000088981] Chr12:102855295 [GRCh38]
Chr12:103249073 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.556del (p.Thr186fs) deletion Phenylketonuria [RCV000586383]|not provided [RCV000088982] Chr12:102855286 [GRCh38]
Chr12:103249064 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.558_559del (p.Trp187fs) deletion Phenylketonuria [RCV000412455]|not provided [RCV000088983] Chr12:102855283..102855284 [GRCh38]
Chr12:103249061..103249062 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.559T>C (p.Trp187Arg) single nucleotide variant Phenylketonuria [RCV000671079]|not provided [RCV000088984] Chr12:102855283 [GRCh38]
Chr12:103249061 [GRCh37]
Chr12:12q23.2
likely pathogenic|uncertain significance|not provided
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) single nucleotide variant Phenylketonuria [RCV000169529]|not provided [RCV000088985] Chr12:102855281 [GRCh38]
Chr12:103249059 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000277.3(PAH):c.561G>C (p.Trp187Cys) single nucleotide variant Phenylketonuria [RCV000668474]|not provided [RCV000088986] Chr12:102855281 [GRCh38]
Chr12:103249059 [GRCh37]
Chr12:12q23.2
uncertain significance|not provided
NM_000277.3(PAH):c.563G>A (p.Gly188Asp) single nucleotide variant Phenylketonuria [RCV000674846]|not provided [RCV000088987] Chr12:102855279 [GRCh38]
Chr12:103249057 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.563del (p.Gly188fs) deletion not provided [RCV000088988] Chr12:102855279 [GRCh38]
Chr12:103249057 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.569T>C (p.Val190Ala) single nucleotide variant Phenylketonuria [RCV000632878]|not provided [RCV000088989] Chr12:102855273 [GRCh38]
Chr12:103249051 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.578_579CT[1] (p.Leu194fs) microsatellite Phenylketonuria [RCV000169180]|not provided [RCV000088990] Chr12:102855261..102855262 [GRCh38]
Chr12:103249039..103249040 [GRCh37]
Chr12:12q23.2
likely pathogenic|not provided
NM_000277.3(PAH):c.581T>C (p.Leu194Pro) single nucleotide variant Phenylketonuria [RCV000411842]|not provided [RCV000088991] Chr12:102855261 [GRCh38]
Chr12:103249039 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided
NM_000277.3(PAH):c.586_608del (p.Ser196fs) deletion not provided [RCV000088992] Chr12:102855234..102855256 [GRCh38]
Chr12:103249012..103249034 [GRCh37]
Chr12:12q23.2
not provided
NM_000277.3(PAH):c.58C>T (p.Gln20Ter) single nucleotide variant Phenylketonuria [RCV000169450]|not provided [RCV000088993] Chr12:102917073 [GRCh38]
Chr12:103310851 [GRCh37]
Chr12:12q23.2
pathogenic|likely pathogenic|not provided