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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
Parent Node: Brain Diseases, Metabolic, Inborn (D020739)
..Starting node ..Phenylketonurias (D010661)
Child Nodes:
........6-pyruvoyl-tetrahydropterin synthase deficiency (C535325)
........Hyperphenylalaninemia with primapterinuria (C538382)
........Hyperphenylalaninemia, BH4-Deficient, B (C562656)
........HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
........HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D (OMIM:264070)
........Hyperphenylalaninemia, BH4-Deficient, Due To Partial PTS Deficiency (C567493)
........Hyperphenylalaninemia, Non-Pku Mild (C567494)
........Phenylketonuria, Maternal (D017042)
Sister Nodes:
..2-Hydroxyglutaricaciduria (C535306)
..Cerebral Amyloid Angiopathy, Familial (D028243) 2
..Creatine deficiency, X-linked (C535598)
..Encephalopathy, Spastic Tetraparesis, and Hypogonadism (C565722)
..Ethylmalonic encephalopathy (C535737)
..Galactosemias (D005693)
..Hartnup Disease (D006250)
..Hepatolenticular Degeneration (D006527) 2
..Hereditary Central Nervous System Demyelinating Diseases (D020279) 29
..Homocarnosinosis (C535328)
..Homocystinuria (D006712) 5
..Hyperglycinemia, Nonketotic (D020158) 1
..Hyperlysinemias (D020167) 3
..Leigh Disease (D007888) 12
..Lesch-Nyhan Syndrome (D007926) 1
..Lysosomal Storage Diseases, Nervous System (D020140) 70
..Maple Syrup Urine Disease (D008375) 5
..MELAS Syndrome (D017241) 1
..Menkes Kinky Hair Syndrome (D007706) 1
..MERRF Syndrome (D017243)
..Microphthalmia and mental deficiency (C537462)
..Oculocerebrorenal Syndrome (D009800) 1
..Peroxisomal Disorders (D018901) 39
..Phenylketonurias (D010661) 8
..Pyruvate Carboxylase Deficiency Disease (D015324) 1
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
..Silengo Lerone Pelizza syndrome (C537336)
..Tricarboxylic Acid Cycle, Defect of (C564762)
..Tyrosinemias (D020176) 1
..Urea Cycle Disorders, Inborn (D056806) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8893

Name:

Phenylketonurias

Definition:

A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).

Alternative IDs:

OMIM:261600

ParentIDs:

MESH:D000592|MESH:D020739

TreeNumbers:

C10.228.140.163.100.687 |C16.320.565.100.766 |C16.320.565.189.687 |C18.452.132.100.687 |C18.452.648.100.766 |C18.452.648.189.687

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: D010661
MeSH: D010661
OMIM: 261600;

Genes: PAH;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000718	Aggressive behavior
3	HP:0000739	Anxiety
4	HP:0007018	Attention deficit hyperactivity disorder
5	HP:0000635	Blue irides
6	HP:0000518	Cataract
7	HP:0002514	Cerebral calcification
8	HP:0000716	Depression
9	HP:0000958	Dry skin
10	HP:0000964	Eczema
11	HP:0002286	Fair hair
12	HP:0007513	Generalized hypopigmentation
13	HP:0004923	Hyperphenylalaninemia
14	HP:0001347	Hyperreflexia
15	HP:0410066	Increased level of hippuric acid in urine
16	HP:0001249	Intellectual disability
17	HP:0000737	Irritability
18	HP:0100610	Maternal hyperphenylalaninemia
19	HP:0000252	Microcephaly
20	HP:0000722	Obsessive-compulsive behavior
21	HP:0004920	Phenylpyruvic acidemia
22	HP:0002686	Prenatal maternal abnormality
23	HP:0000709	Psychosis
24	HP:0005982	Reduced phenylalanine hydroxylase level
25	HP:0100324	Scleroderma
26	HP:0001250	Seizure
27	HP:0000742	Self-mutilation

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NG_008690.1:g.22736_29335delinsGGCACCTG	-1	-	Pathogenic	-1	RCV000000615; RCV000088856;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103287046	103293645	-	-		OMIM Allelic Variant:612349.0008	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1352_1356delTAAAG (p.Ter453Profs)	5053	PAH	Pathogenic	794727086	RCV000174462;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103232956	103232960	NM_000277.1:c.1352_1356delTAAAG	NP_000268.1:p.Ter453Profs	NC_000012.11:g.103232956_103232960delCTTTA	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1355dupA (p.Ter453Valfs)	5053	PAH	Likely pathogenic	199475641	RCV000169511; RCV000088835;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103232957	103232957	NM_000277.1:c.1355dupA	NP_000268.1:p.Ter453Valfs	NC_000012.11:g.103232957dupT	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1315+2T>C	5053	PAH	Likely pathogenic	1799970	RCV000169029; RCV000088827;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103234176	103234176	NM_000277.1:c.1315+2T>C		NC_000012.11:g.103234176A>G	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1315+1G>A	5053	PAH	Pathogenic	5030861	RCV000000606; RCV000078510;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103234177	103234177	NM_000277.1:c.1315+1G>A		NC_000012.11:g.103234177C>T	OMIM Allelic Variant:612349.0001	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1301C>A (p.Ala434Asp)	5053	PAH	Likely pathogenic	199475659	RCV000169393; RCV000088825;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103234192	103234192	NM_000277.1:c.1301C>A	NP_000268.1:p.Ala434Asp	NC_000012.11:g.103234192G>T	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1241A>G (p.Tyr414Cys)	5053	PAH	Pathogenic	5030860	RCV000150074; RCV000000624; RCV000078508;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:C0751435; MedGen:CN221809	12	103234252	103234252	NM_000277.1:c.1241A>G	NP_000268.1:p.Tyr414Cys	NC_000012.11:g.103234252T>C	HGMD:CM910294,OMIM Allelic Variant:612349.0017	C0751435 Hyperphenylalaninemia, non-pku; CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1240T>C (p.Tyr414His)	5053	PAH	Likely pathogenic	281865437	RCV000106346;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103234253	103234253	NM_000277.1:c.1240T>C	NP_000268.1:p.Tyr414His	NC_000012.11:g.103234253A>G	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1238G>C (p.Arg413Pro)	5053	PAH	Pathogenic	79931499	RCV000000623; RCV000088813;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103234255	103234255	NM_000277.1:c.1238G>C	NP_000268.1:p.Arg413Pro	NC_000012.11:g.103234255C>G	OMIM Allelic Variant:612349.0016	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1223G>A (p.Arg408Gln)	5053	PAH	Pathogenic	5030859	RCV000000643; RCV000088806;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103234270	103234270	NM_000277.1:c.1223G>A	NP_000268.1:p.Arg408Gln	NC_000012.11:g.103234270C>T	OMIM Allelic Variant:612349.0038	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1222C>T (p.Arg408Trp)	5053	PAH	Pathogenic	5030858	RCV000000607; RCV000078507;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103234271	103234271	NM_000277.1:c.1222C>T	NP_000268.1:p.Arg408Trp	NC_000012.11:g.103234271G>A	HGMD:CM870016,OMIM Allelic Variant:612349.0002	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1220C>T (p.Pro407Leu)	5053	PAH	Pathogenic	62644473	RCV000000667; RCV000088804;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103234273	103234273	NM_000277.1:c.1220C>T	NP_000268.1:p.Pro407Leu	NC_000012.11:g.103234273G>A	OMIM Allelic Variant:612349.0062	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1208C>T (p.Ala403Val)	5053	PAH	Pathogenic	5030857	RCV000150075; RCV000078506;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103234285	103234285	NM_000277.1:c.1208C>T	NP_000268.1:p.Ala403Val	NC_000012.11:g.103234285G>A	HGMD:CM930567	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1200-1G>A	5053	PAH	Pathogenic	62507322	RCV000150076; RCV000078505;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103234294	103234294	NM_000277.1:c.1200-1G>A		NC_000012.11:g.103234294C>T	HGMD:CS962555	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1199+70G>A	5053	PAH	Likely benign	281865457	RCV000106345;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103237354	103237354	NM_000277.1:c.1199+70G>A		NC_000012.11:g.103237354C>T	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1199+1G>C	5053	PAH	Likely pathogenic;Pathogenic	62509015	RCV000169248; RCV000088791;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103237423	103237423	NM_000277.1:c.1199+1G>C		NC_000012.11:g.103237423C>G,NC_000012.11:g.103237423C>T	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1197A>T (p.Val399=)	5053	PAH	Pathogenic	199475584	RCV000000632; RCV000088786;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103237426	103237426	NM_000277.1:c.1197A>T	NP_000268.1:p.Val399=	NC_000012.11:g.103237426T>A	OMIM Allelic Variant:612349.0027,OMIM Allelic Variant:612349.0065	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1196T>C (p.Val399Ala)	5053	PAH	Likely pathogenic	281865436	RCV000106344;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103237427	103237427	NM_000277.1:c.1196T>C	NP_000268.1:p.Val399Ala	NC_000012.11:g.103237427A>G	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1180G>T (p.Asp394Tyr)	5053	PAH	Likely pathogenic	62516142	RCV000106343;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103237443	103237443	NM_000277.1:c.1180G>T	NP_000268.1:p.Asp394Tyr	NC_000012.11:g.103237443C>A,NC_000012.11:g.103237443C>G	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1172G>C (p.Ser391Thr)	5053	PAH	Likely pathogenic	869312997	RCV000210788;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103237451	103237451	NM_000277.1:c.1172G>C	NP_000268.1:p.Ser391Thr	NC_000012.11:g.103237451C>G	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1171A>G (p.Ser391Gly)	5053	PAH	Likely pathogenic	281865453	RCV000106342;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103237452	103237452	NM_000277.1:c.1171A>G	NP_000268.1:p.Ser391Gly	NC_000012.11:g.103237452T>C	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1169A>G (p.Glu390Gly)	5053	PAH	Pathogenic	5030856	RCV000000657; RCV000000656; RCV000078503;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:C0751435; MedGen:CN221809	12	103237454	103237454	NM_000277.1:c.1169A>G	NP_000268.1:p.Glu390Gly	NC_000012.11:g.103237454T>C	HGMD:CM941139,OMIM Allelic Variant:612349.0051	C0751435 Hyperphenylalaninemia, non-pku; CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1163T>C (p.Val388Ala)	5053	PAH	Likely pathogenic	281865435	RCV000106341;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103237460	103237460	NM_000277.1:c.1163T>C	NP_000268.1:p.Val388Ala	NC_000012.11:g.103237460A>G	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1162G>A (p.Val388Met)	5053	PAH	Pathogenic	62516101	RCV000000650; RCV000088774;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103237461	103237461	NM_000277.1:c.1162G>A	NP_000268.1:p.Val388Met	NC_000012.11:g.103237461C>G,NC_000012.11:g.103237461C>T	HGMD:CM930564,OMIM Allelic Variant:612349.0045	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1157A>G (p.Tyr386Cys)	5053	PAH	Likely pathogenic;Pathogenic	62516141	RCV000169306; RCV000088771;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103237466	103237466	NM_000277.1:c.1157A>G	NP_000268.1:p.Tyr386Cys	NC_000012.11:g.103237466T>C	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1152C>G (p.Pro384=)	5053	PAH	Likely benign	281865458	RCV000106340;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103237471	103237471	NM_000277.1:c.1152C>G	NP_000268.1:p.Pro384=	NC_000012.11:g.103237471G>C	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1139C>T (p.Thr380Met)	5053	PAH	Likely pathogenic;Pathogenic	62642937	RCV000150077; RCV000000660; RCV000078502;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:C0751435; MedGen:CN221809	12	103237484	103237484	NM_000277.1:c.1139C>T	NP_000268.1:p.Thr380Met	NC_000012.11:g.103237484G>A	HGMD:CM930563,OMIM Allelic Variant:612349.0054	C0751435 Hyperphenylalaninemia, non-pku; CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1129delT (p.Tyr377Thrfs)	5053	PAH	Pathogenic	62642941	RCV000000666; RCV000088766;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103237494	103237494	NM_000277.1:c.1129delT	NP_000268.1:p.Tyr377Thrfs	NC_000012.11:g.103237494delA	OMIM Allelic Variant:612349.0061	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1092_1106delTCTCCCCCTGGAGCT (p.Leu365_Leu369del)	5053	PAH	Pathogenic	62516097	RCV000000651; RCV000088753;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103237517	103237531	NM_000277.1:c.1092_1106delTCTCCCCCTGGAGCT	NP_000268.1:p.Leu365_Leu369del	NC_000012.11:g.103237517_103237531delAGCTCCAGGGGGAGA	OMIM Allelic Variant:612349.0046	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1092_1094delTCT (p.Leu365del)	5053	PAH	Pathogenic	62516096	RCV000000628; RCV000088752;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103237529	103237531	NM_000277.1:c.1092_1094delTCT	NP_000268.1:p.Leu365del	NC_000012.11:g.103237529_103237531delAGA	OMIM Allelic Variant:612349.0021	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1089delG (p.Lys363Asnfs)	5053	PAH	Likely pathogenic	5030654	RCV000169397; RCV000088751;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103237534	103237534	NM_000277.1:c.1089delG	NP_000268.1:p.Lys363Asnfs	NC_000012.11:g.103237534delC	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1076C>G (p.Ser359Ter)	5053	PAH	Pathogenic	5030854	RCV000000658; RCV000088747;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103237547	103237547	NM_000277.1:c.1076C>G	NP_000268.1:p.Ser359Ter	NC_000012.11:g.103237547G>C	OMIM Allelic Variant:612349.0052	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1068C>G (p.Tyr356Ter)	5053	PAH	Likely pathogenic;Pathogenic	62516095	RCV000000626; RCV000088745;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103237555	103237555	NM_000277.1:c.1068C>G	NP_000268.1:p.Tyr356Ter	NC_000012.11:g.103237555G>C,NC_000012.11:g.103237555G>T	OMIM Allelic Variant:612349.0019	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1068C>A (p.Tyr356Ter)	5053	PAH	Pathogenic	62516095	RCV000150078; RCV000078501;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103237555	103237555	NM_000277.1:c.1068C>A	NP_000268.1:p.Tyr356Ter	NC_000012.11:g.103237555G>C,NC_000012.11:g.103237555G>T	HGMD:CM941138	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1066-2A>T	5053	PAH	Likely pathogenic	281865447	RCV000106339;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103237559	103237559	NM_000277.1:c.1066-2A>T		NC_000012.11:g.103237559T>A	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1066-3C>T	5053	PAH	Likely pathogenic;Pathogenic	62507344	RCV000000654; RCV000088742;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103237560	103237560	NM_000277.1:c.1066-3C>T		NC_000012.11:g.103237560G>A	OMIM Allelic Variant:612349.0049	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1066-11G>A	5053	PAH	Pathogenic	5030855	RCV000000638; RCV000078500;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103237568	103237568	NM_000277.1:c.1066-11G>A		NC_000012.11:g.103237568C>T	OMIM Allelic Variant:612349.0033	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1045T>C (p.Ser349Pro)	5053	PAH	Pathogenic	62508646	RCV000000646; RCV000078499;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103238134	103238134	NM_000277.1:c.1045T>C	NP_000268.1:p.Ser349Pro	NC_000012.11:g.103238134A>C,NC_000012.11:g.103238134A>G	HGMD:CM910293,OMIM Allelic Variant:612349.0041	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1042C>G (p.Leu348Val)	5053	PAH	Pathogenic	62516092	RCV000150080; RCV000078498;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103238137	103238137	NM_000277.1:c.1042C>G	NP_000268.1:p.Leu348Val	NC_000012.11:g.103238137G>C	HGMD:CM920561	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1025C>A (p.Ala342Glu)	5053	PAH	Likely pathogenic	796064501	RCV000190375;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103238154	103238154	NM_000277.1:c.1025C>A	NP_000268.1:p.Ala342Glu	NC_000012.11:g.103238154G>T	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1004A>C (p.Lys335Thr)	5053	PAH	Likely pathogenic	281865434	RCV000106338;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103238175	103238175	NM_000277.1:c.1004A>C	NP_000268.1:p.Lys335Thr	NC_000012.11:g.103238175T>G	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.977G>A (p.Trp326Ter)	5053	PAH	Pathogenic	62514959	RCV000000609; RCV000089188;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103238202	103238202	NM_000277.1:c.977G>A	NP_000268.1:p.Trp326Ter	NC_000012.11:g.103238202C>T	OMIM Allelic Variant:612349.0015	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.974A>G (p.Tyr325Cys)	5053	PAH	Pathogenic	62508578	RCV000150081; RCV000078541;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103238205	103238205	NM_000277.1:c.974A>G	NP_000268.1:p.Tyr325Cys	NC_000012.11:g.103238205T>C	HGMD:CM000547	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.970-1G>A	5053	PAH	Likely pathogenic	202183605	RCV000106379;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103238210	103238210	NM_000277.1:c.970-1G>A		NC_000012.11:g.103238210C>T	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.955G>T (p.Glu319Ter)	5053	PAH	Pathogenic	398123294	RCV000078539;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103240687	103240687	NM_000277.1:c.955G>T	NP_000268.1:p.Glu319Ter	NC_000012.11:g.103240687C>A	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.932T>C (p.Leu311Pro)	5053	PAH	Likely pathogenic;Pathogenic	62642936	RCV000000608; RCV000089164;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103240710	103240710	NM_000277.1:c.932T>C	NP_000268.1:p.Leu311Pro	NC_000012.11:g.103240710A>G	OMIM Allelic Variant:612349.0003	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.931_932delCT (p.Leu311Glyfs)	5053	PAH	Likely pathogenic	281865430	RCV000106378;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103240710	103240711	NM_000277.1:c.931_932delCT	NP_000268.1:p.Leu311Glyfs	NC_000012.11:g.103240710_103240711delAG	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.926C>T (p.Ala309Val)	5053	PAH	Pathogenic	62642935	RCV000150082; RCV000078538;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103240716	103240716	NM_000277.1:c.926C>T	NP_000268.1:p.Ala309Val	NC_000012.11:g.103240716G>A,NC_000012.11:g.103240716G>T	HGMD:CM930556	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.916A>G (p.Ile306Val)	5053	PAH	Likely pathogenic;Pathogenic	62642934	RCV000169485; RCV000000649; RCV000089157;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:C0751435; MedGen:CN221809	12	103240726	103240726	NM_000277.1:c.916A>G	NP_000268.1:p.Ile306Val	NC_000012.11:g.103240726T>C	OMIM Allelic Variant:612349.0044	C0751435 Hyperphenylalaninemia, non-pku; CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.916delA (p.Ile306Leufs)	5053	PAH	Likely pathogenic	281865456	RCV000106377;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103240726	103240726	NM_000277.1:c.916delA	NP_000268.1:p.Ile306Leufs	NC_000012.11:g.103240726delT	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.913-3C>G	5053	PAH	Likely pathogenic	281865451	RCV000106375;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103240732	103240732	NM_000277.1:c.913-3C>G		NC_000012.11:g.103240732G>C	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.913-8A>G	5053	PAH	Likely pathogenic	281865452	RCV000106376;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103240737	103240737	NM_000277.1:c.913-8A>G		NC_000012.11:g.103240737T>C	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.912+3A>C	5053	PAH	Likely pathogenic	281865450	RCV000106374;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103245462	103245462	NM_000277.1:c.912+3A>C		NC_000012.11:g.103245462T>G	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.912+2T>C	5053	PAH	Likely pathogenic	281865449	RCV000106373;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103245463	103245463	NM_000277.1:c.912+2T>C		NC_000012.11:g.103245463A>G	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.912+1G>A	5053	PAH	Pathogenic	62514956	RCV000150083; RCV000078537;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103245464	103245464	NM_000277.1:c.912+1G>A		NC_000012.11:g.103245464C>T	HGMD:CS961660	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.898G>T (p.Ala300Ser)	5053	PAH	Pathogenic	5030853	RCV000150084; RCV000078536;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103245479	103245479	NM_000277.1:c.898G>T	NP_000268.1:p.Ala300Ser	NC_000012.11:g.103245479C>A	HGMD:CM920555	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.896T>G (p.Phe299Cys)	5053	PAH	Likely pathogenic;Pathogenic	62642933	RCV000000644; RCV000089148;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103245481	103245481	NM_000277.1:c.896T>G	NP_000268.1:p.Phe299Cys	NC_000012.11:g.103245481A>C	OMIM Allelic Variant:612349.0039	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.895T>C (p.Phe299Leu)	5053	PAH	Likely pathogenic	796064504	RCV000190378;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103245482	103245482	NM_000277.1:c.895T>C	NP_000268.1:p.Phe299Leu	NC_000012.11:g.103245482A>G	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.890G>A (p.Arg297His)	5053	PAH	Pathogenic	62642939	RCV000150085; RCV000078535;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103245487	103245487	NM_000277.1:c.890G>A	NP_000268.1:p.Arg297His	NC_000012.11:g.103245487C>T	HGMD:CM971133	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.887A>G (p.Asp296Gly)	5053	PAH	Likely pathogenic	281865446	RCV000106372;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103245490	103245490	NM_000277.1:c.887A>G	NP_000268.1:p.Asp296Gly	NC_000012.11:g.103245490T>C	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.869A>T (p.His290Leu)	5053	PAH	Likely pathogenic	62642919	RCV000106371;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103245508	103245508	NM_000277.1:c.869A>T	NP_000268.1:p.His290Leu	NC_000012.11:g.103245508T>A,NC_000012.11:g.103245508T>C	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.847A>T (p.Ile283Phe)	5053	PAH	Likely pathogenic	62517168	RCV000169005; RCV000089137;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103245530	103245530	NM_000277.1:c.847A>T	NP_000268.1:p.Ile283Phe	NC_000012.11:g.103245530T>A	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.842+5G>A	5053	PAH	Likely pathogenic	62516146	RCV000169348; RCV000089133;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246588	103246588	NM_000277.1:c.842+5G>A		NC_000012.11:g.103246588C>T	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.842+2T>A	5053	PAH	Pathogenic	62514955	RCV000000645; RCV000089131;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246591	103246591	NM_000277.1:c.842+2T>A		NC_000012.11:g.103246591A>T	OMIM Allelic Variant:612349.0040	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.842+1G>A	5053	PAH	Likely pathogenic;Pathogenic	5030852	RCV000000630; RCV000089129;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246592	103246592	NM_000277.1:c.842+1G>A		NC_000012.11:g.103246592C>A,NC_000012.11:g.103246592C>T	OMIM Allelic Variant:612349.0025	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.842C>T (p.Pro281Leu)	5053	PAH	Pathogenic	5030851	RCV000000620; RCV000078534;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246593	103246593	NM_000277.1:c.842C>T	NP_000268.1:p.Pro281Leu	NC_000012.11:g.103246593G>A	HGMD:CM910292,OMIM Allelic Variant:612349.0012	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.841C>G (p.Pro281Ala)	5053	PAH	Likely pathogenic	199475654	RCV000106370;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103246594	103246594	NM_000277.1:c.841C>G	NP_000268.1:p.Pro281Ala	NC_000012.11:g.103246594G>A,NC_000012.11:g.103246594G>C	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.838G>A (p.Glu280Lys)	5053	PAH	Pathogenic	62508698	RCV000000610; RCV000078532;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246597	103246597	NM_000277.1:c.838G>A	NP_000268.1:p.Glu280Lys	NC_000012.11:g.103246597C>G,NC_000012.11:g.103246597C>T	HGMD:CM890094,OMIM Allelic Variant:612349.0004	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.837delC (p.Glu280Asnfs)	5053	PAH	Likely pathogenic	281865429	RCV000106369;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103246598	103246598	NM_000277.1:c.837delC	NP_000268.1:p.Glu280Asnfs	NC_000012.11:g.103246598delG	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.836C>T (p.Pro279Leu)	5053	PAH	Likely pathogenic	796064503	RCV000190377;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103246599	103246599	NM_000277.1:c.836C>T	NP_000268.1:p.Pro279Leu	NC_000012.11:g.103246599G>A	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.829T>G (p.Tyr277Asp)	5053	PAH	Pathogenic	78655458	RCV000000634; RCV000078531;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246606	103246606	NM_000277.1:c.829T>G	NP_000268.1:p.Tyr277Asp	NC_000012.11:g.103246606A>C	HGMD:CM910291,OMIM Allelic Variant:612349.0029	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.820A>G (p.Lys274Glu)	5053	PAH	Likely benign	142934616	RCV000148723; RCV000089112;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246615	103246615	NM_000277.1:c.820A>G	NP_000268.1:p.Lys274Glu	NC_000012.11:g.103246615T>C	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.818C>T (p.Ser273Phe)	5053	PAH	Pathogenic	62514953	RCV000000629; RCV000089111;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246617	103246617	NM_000277.1:c.818C>T	NP_000268.1:p.Ser273Phe	NC_000012.11:g.103246617G>A	OMIM Allelic Variant:612349.0023	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.814G>T (p.Gly272Ter)	5053	PAH	Pathogenic	62514952	RCV000000627; RCV000089110;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246621	103246621	NM_000277.1:c.814G>T	NP_000268.1:p.Gly272Ter	NC_000012.11:g.103246621C>A	OMIM Allelic Variant:612349.0020,OMIM Allelic Variant:612349.0022	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.812A>T (p.His271Leu)	5053	PAH	Likely pathogenic	199475692	RCV000106368;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103246623	103246623	NM_000277.1:c.812A>T	NP_000268.1:p.His271Leu	NC_000012.11:g.103246623T>A,NC_000012.11:g.103246623T>C	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.809G>A (p.Arg270Lys)	5053	PAH	Pathogenic	62514950	RCV000153632; RCV000089105;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246626	103246626	NM_000277.1:c.809G>A	NP_000268.1:p.Arg270Lys	NC_000012.11:g.103246626C>T	HGMD:CM950892	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.806delT (p.Ile269Thrfs)	5053	PAH	Pathogenic	62508687	RCV000153633; RCV000089103;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246629	103246629	NM_000277.1:c.806delT	NP_000268.1:p.Ile269Thrfs	NC_000012.11:g.103246629delA	HGMD:CD011182	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.800A>T (p.Gln267Leu)	5053	PAH	Likely pathogenic	778154939	RCV000210763;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103246635	103246635	NM_000277.1:c.800A>T	NP_000268.1:p.Gln267Leu	NC_000012.11:g.103246635T>A	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.796A>C (p.Thr266Pro)	5053	PAH	Likely pathogenic	62508752	RCV000106367;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103246639	103246639	NM_000277.1:c.796A>C	NP_000268.1:p.Thr266Pro	NC_000012.11:g.103246639T>C,NC_000012.11:g.103246639T>G	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.785T>G (p.Val262Gly)	5053	PAH	Likely pathogenic	281865445	RCV000106366;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103246650	103246650	NM_000277.1:c.785T>G	NP_000268.1:p.Val262Gly	NC_000012.11:g.103246650A>C	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.782G>A (p.Arg261Gln)	5053	PAH	Pathogenic	5030849	RCV000000612; RCV000078530;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246653	103246653	NM_000277.1:c.782G>A	NP_000268.1:p.Arg261Gln	NC_000012.11:g.103246653C>G,NC_000012.11:g.103246653C>T	HGMD:CM910287,OMIM Allelic Variant:612349.0006	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.781C>T (p.Arg261Ter)	5053	PAH	Pathogenic	5030850	RCV000000641; RCV000089090;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246654	103246654	NM_000277.1:c.781C>T	NP_000268.1:p.Arg261Ter	NC_000012.11:g.103246654G>A,NC_000012.11:g.103246654G>C	OMIM Allelic Variant:612349.0036	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.781C>G (p.Arg261Gly)	5053	PAH	Likely pathogenic	5030850	RCV000119826;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103246654	103246654	NM_000277.1:c.781C>G	NP_000268.1:p.Arg261Gly	NC_000012.11:g.103246654G>A,NC_000012.11:g.103246654G>C	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.776C>T (p.Ala259Val)	5053	PAH	Pathogenic	118203921	RCV000000633; RCV000089089;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246659	103246659	NM_000277.1:c.776C>T	NP_000268.1:p.Ala259Val	NC_000012.11:g.103246659G>A	OMIM Allelic Variant:612349.0028	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.764T>C (p.Leu255Ser)	5053	PAH	Pathogenic	62642930	RCV000000631; RCV000089083;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246671	103246671	NM_000277.1:c.764T>C	NP_000268.1:p.Leu255Ser	NC_000012.11:g.103246671A>G	OMIM Allelic Variant:612349.0026	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.755G>A (p.Arg252Gln)	5053	PAH	Pathogenic	62644503	RCV000179742; RCV000089080;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246680	103246680	NM_000277.1:c.755G>A	NP_000268.1:p.Arg252Gln	NC_000012.11:g.103246680C>T	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.754C>T (p.Arg252Trp)	5053	PAH	Likely pathogenic;Pathogenic	5030847	RCV000000614; RCV000089079; RCV000201954;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246681	103246681	NM_000277.1:c.754C>T	NP_000268.1:p.Arg252Trp	NC_000012.11:g.103246681G>A,NC_000012.11:g.103246681G>C	OMIM Allelic Variant:612349.0007	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.754C>T (p.Arg252Trp)	5053	PAH	Likely pathogenic;Pathogenic	5030847	RCV000000614; RCV000089079; RCV000201954;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246681	103246681	NM_000277.1:c.754C>T	NP_000268.1:p.Arg252Trp	NC_000012.11:g.103246681G>A,NC_000012.11:g.103246681G>C	OMIM Allelic Variant:612349.0007	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.745C>T (p.Leu249Phe)	5053	PAH	Pathogenic	74503222	RCV000153634; RCV000089076;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246690	103246690	NM_000277.1:c.745C>T	NP_000268.1:p.Leu249Phe	NC_000012.11:g.103246690G>A	HGMD:CM950890	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.740G>T (p.Gly247Val)	5053	PAH	Likely pathogenic	199475579	RCV000169396; RCV000089073;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246695	103246695	NM_000277.1:c.740G>T	NP_000268.1:p.Gly247Val	NC_000012.11:g.103246695C>A,NC_000012.11:g.103246695C>T	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.731C>T (p.Pro244Leu)	5053	PAH	Pathogenic	118203923	RCV000000652; RCV000089061;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246704	103246704	NM_000277.1:c.731C>T	NP_000268.1:p.Pro244Leu	NC_000012.11:g.103246704G>A	OMIM Allelic Variant:612349.0047	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.728G>A (p.Arg243Gln)	5053	PAH	Pathogenic	62508588	RCV000000622; RCV000089059;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246707	103246707	NM_000277.1:c.728G>A	NP_000268.1:p.Arg243Gln	NC_000012.11:g.103246707C>A,NC_000012.11:g.103246707C>T	OMIM Allelic Variant:612349.0014	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.727C>T (p.Arg243Ter)	5053	PAH	Pathogenic	5030846	RCV000000619; RCV000078528;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246708	103246708	NM_000277.1:c.727C>T	NP_000268.1:p.Arg243Ter	NC_000012.11:g.103246708G>A	HGMD:CM900176,OMIM Allelic Variant:612349.0011	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.722delG (p.Arg241Profs)	5053	PAH	Likely pathogenic	199475657	RCV000169560; RCV000089057;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246713	103246713	NM_000277.1:c.722delG	NP_000268.1:p.Arg241Profs	NC_000012.11:g.103246713delC	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.721C>T (p.Arg241Cys)	5053	PAH	Pathogenic	76687508	RCV000153635; RCV000089054;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103246714	103246714	NM_000277.1:c.721C>T	NP_000268.1:p.Arg241Cys	NC_000012.11:g.103246714G>A	HGMD:CM930548	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.694C>T (p.Gln232Ter)	5053	PAH	Likely pathogenic	62507348	RCV000169464; RCV000089039;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103248926	103248926	NM_000277.1:c.694C>T	NP_000268.1:p.Gln232Ter	NC_000012.11:g.103248926G>A	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.691T>C (p.Ser231Pro)	5053	PAH	Pathogenic	5030845	RCV000190611; RCV000089037;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103248929	103248929	NM_000277.1:c.691T>C	NP_000268.1:p.Ser231Pro	NC_000012.11:g.103248929A>G	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.682G>A (p.Glu228Lys)	5053	PAH	Likely pathogenic	281865444	RCV000106365;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103248938	103248938	NM_000277.1:c.682G>A	NP_000268.1:p.Glu228Lys	NC_000012.11:g.103248938C>T	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.664_665delGA (p.Asp222Terfs)	5053	PAH	Likely pathogenic	62514936	RCV000169088; RCV000089025;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103248955	103248956	NM_000277.1:c.664_665delGA	NP_000268.1:p.Asp222Terfs	NC_000012.11:g.103248955_103248956delTC	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.662A>G (p.Glu221Gly)	5053	PAH	Pathogenic	62514934	RCV000000640; RCV000089024;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103248958	103248958	NM_000277.1:c.662A>G	NP_000268.1:p.Glu221Gly	NC_000012.11:g.103248958T>C	OMIM Allelic Variant:612349.0035	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.648C>G (p.Tyr216Ter)	5053	PAH	Pathogenic	62509013	RCV000179283; RCV000089019;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103248972	103248972	NM_000277.1:c.648C>G	NP_000268.1:p.Tyr216Ter	NC_000012.11:g.103248972G>C	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.638T>C (p.Leu213Pro)	5053	PAH	Likely pathogenic;Pathogenic	62516109	RCV000150086; RCV000078527;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103248982	103248982	NM_000277.1:c.638T>C	NP_000268.1:p.Leu213Pro	NC_000012.11:g.103248982A>G	HGMD:CM961074	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.632C>T (p.Pro211Leu)	5053	PAH	Likely pathogenic	281865443	RCV000106364;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103248988	103248988	NM_000277.1:c.632C>T	NP_000268.1:p.Pro211Leu	NC_000012.11:g.103248988G>A	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.612T>C (p.Tyr204=)	5053	PAH	Likely benign	62514928	RCV000106363;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103249008	103249008	NM_000277.1:c.612T>C	NP_000268.1:p.Tyr204=	NC_000012.11:g.103249008A>C,NC_000012.11:g.103249008A>G	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.611A>G (p.Tyr204Cys)	5053	PAH	Likely pathogenic;Pathogenic	62514927	RCV000000621; RCV000089007;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103249009	103249009	NM_000277.1:c.611A>G	NP_000268.1:p.Tyr204Cys	NC_000012.11:g.103249009T>C	OMIM Allelic Variant:612349.0013	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.591G>C (p.Leu197Phe)	5053	PAH	Likely pathogenic	281865442	RCV000106361;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103249029	103249029	NM_000277.1:c.591G>C	NP_000268.1:p.Leu197Phe	NC_000012.11:g.103249029C>G	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.580_581delCT (p.Leu194Glufs)	5053	PAH	Likely pathogenic	62508587	RCV000169180; RCV000088990;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103249039	103249040	NM_000277.1:c.580_581delCT	NP_000268.1:p.Leu194Glufs	NC_000012.11:g.103249039_103249040delAG	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.568G>A (p.Val190Met)	5053	PAH	Likely pathogenic	281865441	RCV000106360;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103249052	103249052	NM_000277.1:c.568G>A	NP_000268.1:p.Val190Met	NC_000012.11:g.103249052C>T	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.561G>A (p.Trp187Ter)	5053	PAH	Likely pathogenic	62507336	RCV000169529; RCV000088985;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103249059	103249059	NM_000277.1:c.561G>A	NP_000268.1:p.Trp187Ter	NC_000012.11:g.103249059C>G,NC_000012.11:g.103249059C>T	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.547_548delGAinsTT (p.Glu183Leu)	5053	PAH	Likely pathogenic	281865433	RCV000106359;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103249072	103249073	NM_000277.1:c.547_548delGAinsTT	NP_000268.1:p.Glu183Leu	NC_000012.11:g.103249072_103249073delTCinsAA	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.533A>G (p.Glu178Gly)	5053	PAH	Pathogenic	77958223	RCV000150087; RCV000078526;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103249087	103249087	NM_000277.1:c.533A>G	NP_000268.1:p.Glu178Gly	NC_000012.11:g.103249087T>A,NC_000012.11:g.103249087T>C	HGMD:CM941131	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.526C>T (p.Arg176Ter)	5053	PAH	Pathogenic	199475575	RCV000179282; RCV000088971;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103249094	103249094	NM_000277.1:c.526C>T	NP_000268.1:p.Arg176Ter	NC_000012.11:g.103249094G>A	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.508C>G (p.His170Asp)	5053	PAH	Pathogenic	199475655	RCV000150088; RCV000078524;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103260375	103260375	NM_000277.1:c.508C>G	NP_000268.1:p.His170Asp	NC_000012.11:g.103260375G>C	HGMD:CM011946	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.505C>T (p.Arg169Cys)	5053	PAH	Likely pathogenic	281865440	RCV000111461;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103260378	103260378	NM_000277.1:c.505C>T	NP_000268.1:p.Arg169Cys	NC_000012.11:g.103260378G>A	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.504C>A (p.Tyr168Ter)	5053	PAH	Likely pathogenic	281865455	RCV000106358;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103260379	103260379	NM_000277.1:c.504C>A	NP_000268.1:p.Tyr168Ter	NC_000012.11:g.103260379G>T	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.500A>G (p.Asn167Ser)	5053	PAH	Likely benign	77554925	RCV000148722; RCV000088951;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103260383	103260383	NM_000277.1:c.500A>G	NP_000268.1:p.Asn167Ser	NC_000012.11:g.103260383T>A,NC_000012.11:g.103260383T>C	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.473G>A (p.Arg158Gln)	5053	PAH	Pathogenic	5030843	RCV000000618; RCV000078522;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103260410	103260410	NM_000277.1:c.473G>A	NP_000268.1:p.Arg158Gln	NC_000012.11:g.103260410C>G,NC_000012.11:g.103260410C>T	HGMD:CM890093,OMIM Allelic Variant:612349.0010	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.442-1G>A	5053	PAH	Pathogenic	62514907	RCV000000625; RCV000088924;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103260442	103260442	NM_000277.1:c.442-1G>A		NC_000012.11:g.103260442C>T	OMIM Allelic Variant:612349.0018,OMIM Allelic Variant:612349.0024	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.442-2A>C	5053	PAH	Likely pathogenic;Pathogenic	281865448	RCV000106357; RCV000186072;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103260443	103260443	NM_000277.1:c.442-2A>C		NC_000012.11:g.103260443T>G	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.441+6T>A	5053	PAH	Likely pathogenic	199475698	RCV000106356;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103271234	103271234	NM_000277.1:c.441+6T>A		NC_000012.11:g.103271234A>G,NC_000012.11:g.103271234A>T	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.441+5G>T	5053	PAH	Pathogenic	62507321	RCV000150089; RCV000078521;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103271235	103271235	NM_000277.1:c.441+5G>T		NC_000012.11:g.103271235C>A	HGMD:CS971841	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.441+1G>A	5053	PAH	Likely pathogenic;Pathogenic	62517166	RCV000169579; RCV000088919;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103271239	103271239	NM_000277.1:c.441+1G>A		NC_000012.11:g.103271239C>T	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.400C>T (p.Gln134Ter)	5053	PAH	Likely pathogenic	199475680	RCV000169559; RCV000088912;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103271281	103271281	NM_000277.1:c.400C>T	NP_000268.1:p.Gln134Ter	NC_000012.11:g.103271281G>A	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.357delC (p.Trp120Glyfs)	5053	PAH	Pathogenic	794727619	RCV000178065;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103271324	103271324	NM_000277.1:c.357delC	NP_000268.1:p.Trp120Glyfs	NC_000012.11:g.103271324delG	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.355C>T (p.Pro119Ser)	5053	PAH	Likely pathogenic;Uncertain significance	398123292	RCV000178066; RCV000078520;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103271326	103271326	NM_000277.1:c.355C>T	NP_000268.1:p.Pro119Ser	NC_000012.11:g.103271326G>A	HGMD:CM043044	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.353-507G>T	5053	PAH	Pathogenic	863225301	RCV000201954;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103271835	103271835	NM_000277.1:c.353-507G>T		NC_000012.11:g.103271835C>A	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.350C>T (p.Thr117Ile)	5053	PAH	Likely pathogenic	281865439	RCV000106354;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103288515	103288515	NM_000277.1:c.350C>T	NP_000268.1:p.Thr117Ile	NC_000012.11:g.103288515G>A	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.350delC (p.Thr117Lysfs)	5053	PAH	Likely pathogenic	281865428	RCV000106355;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103288515	103288515	NM_000277.1:c.350delC	NP_000268.1:p.Thr117Lysfs	NC_000012.11:g.103288515delG	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.331C>T (p.Arg111Ter)	5053	PAH	Pathogenic	76296470	RCV000000611; RCV000088898;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103288534	103288534	NM_000277.1:c.331C>T	NP_000268.1:p.Arg111Ter	NC_000012.11:g.103288534G>A	OMIM Allelic Variant:612349.0005	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.320A>G (p.His107Arg)	5053	PAH	Likely pathogenic	542645236	RCV000210807;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103288545	103288545	NM_000277.1:c.320A>G	NP_000268.1:p.His107Arg	NC_000012.11:g.103288545T>C	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.284_286delTCA (p.Ile95del)	5053	PAH	Pathogenic	62508727	RCV000000635; RCV000078518;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103288579	103288581	NM_000277.1:c.284_286delTCA	NP_000268.1:p.Ile95del	NC_000012.11:g.103288579_103288581delTGA	OMIM Allelic Variant:612349.0030	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.284_285delTCinsCA (p.Ile95Thr)	5053	PAH	Likely pathogenic	281865432	RCV000106353;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103288580	103288581	NM_000277.1:c.284_285delTCinsCA	NP_000268.1:p.Ile95Thr	NC_000012.11:g.103288580_103288581delGAinsTG	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.250G>T (p.Asp84Tyr)	5053	PAH	Pathogenic	62514902	RCV000177027; RCV000088883;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103288615	103288615	NM_000277.1:c.250G>T	NP_000268.1:p.Asp84Tyr	NC_000012.11:g.103288615C>A	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.242C>A (p.Thr81Asn)	5053	PAH	Likely pathogenic	796064502	RCV000190376;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103288623	103288623	NM_000277.1:c.242C>A	NP_000268.1:p.Thr81Asn	NC_000012.11:g.103288623G>T	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.205_210dupCCTTCT (p.Ser70_Arg71insProSer)	5053	PAH	Likely pathogenic	281865431	RCV000106352;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103288655	103288660	NM_000277.1:c.205_210dupCCTTCT	NP_000268.1:p.Ser70_Arg71insProSer	NC_000012.11:g.103288655_103288660dupAGAAGG	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.204A>T (p.Arg68Ser)	5053	PAH	Likely pathogenic;Pathogenic	76394784	RCV000150091; RCV000078517;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103288661	103288661	NM_000277.1:c.204A>T	NP_000268.1:p.Arg68Ser	NC_000012.11:g.103288661T>A	HGMD:CM920542	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.196G>T (p.Glu66Ter)	5053	PAH	Likely pathogenic	281865454	RCV000106351;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103288669	103288669	NM_000277.1:c.196G>T	NP_000268.1:p.Glu66Ter	NC_000012.11:g.103288669C>A	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.194T>C (p.Ile65Thr)	5053	PAH	Pathogenic	75193786	RCV000000668; RCV000078516;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103288671	103288671	NM_000277.1:c.194T>C	NP_000268.1:p.Ile65Thr	NC_000012.11:g.103288671A>C,NC_000012.11:g.103288671A>G,NC_000012.11:g.103288671	HGMD:CM920541,OMIM Allelic Variant:612349.0063	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.183C>A (p.Asn61Lys)	5053	PAH	Likely pathogenic	199475634	RCV000106350;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103288682	103288682	NM_000277.1:c.183C>A	NP_000268.1:p.Asn61Lys	NC_000012.11:g.103288682G>C,NC_000012.11:g.103288682G>T	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.169G>T (p.Glu57Ter)	5053	PAH	Likely pathogenic	140945592	RCV000106349;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103288696	103288696	NM_000277.1:c.169G>T	NP_000268.1:p.Glu57Ter	NC_000012.11:g.103288696C>A,NC_000012.11:g.103288696C>T	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.169-42T>A	5053	PAH	Likely benign	281865459	RCV000106348;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103288738	103288738	NM_000277.1:c.169-42T>A		NC_000012.11:g.103288738A>T	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.168+1G>A	5053	PAH	Likely pathogenic	62514898	RCV000169163; RCV000088846;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103306568	103306568	NM_000277.1:c.168+1G>A		NC_000012.11:g.103306568C>T	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.168_168+1delGGinsAA	5053	PAH	Likely pathogenic	786204457	RCV000169094;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103306568	103306569	NM_000277.1:c.168_168+1delGGinsAA		NC_000012.11:g.103306568_103306569delCCinsTT	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.165delT (p.Phe55Leufs)	5053	PAH	Likely pathogenic;Pathogenic	199475566	RCV000000642; RCV000078513;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103306572	103306572	NM_000277.1:c.165delT	NP_000268.1:p.Phe55Leufs	NC_000012.11:g.103306572delA	OMIM Allelic Variant:612349.0037	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.165T>G (p.Phe55Leu)	5053	PAH	Likely pathogenic;Pathogenic	199475598	RCV000150092; RCV000078512;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103306572	103306572	NM_000277.1:c.165T>G	NP_000268.1:p.Phe55Leu	NC_000012.11:g.103306572A>C	HGMD:CM971122	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.164T>C (p.Phe55Ser)	5053	PAH	Likely pathogenic	281865438	RCV000106347;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103306573	103306573	NM_000277.1:c.164T>C	NP_000268.1:p.Phe55Ser	NC_000012.11:g.103306573A>G	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.155delT (p.Leu52Cysfs)	5053	PAH	not provided	281865165	RCV000106392;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103306582	103306582	NM_000277.1:c.155delT	NP_000268.1:p.Leu52Cysfs	NC_000012.11:g.103306582delA	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.143T>C (p.Leu48Ser)	5053	PAH	Pathogenic	5030841	RCV000000639; RCV000078511;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103306594	103306594	NM_000277.1:c.143T>C	NP_000268.1:p.Leu48Ser	NC_000012.11:g.103306594A>G	HGMD:CM910281,OMIM Allelic Variant:612349.0034	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.136G>A (p.Gly46Ser)	5053	PAH	Pathogenic	74603784	RCV000000661; RCV000088836;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103306601	103306601	NM_000277.1:c.136G>A	NP_000268.1:p.Gly46Ser	NC_000012.11:g.103306601C>T	OMIM Allelic Variant:612349.0055	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.116_118delTCT (p.Phe39del)	5053	PAH	Likely pathogenic;Pathogenic	199475565	RCV000169302; RCV000186077;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103306619	103306621	NM_000277.1:c.116_118delTCT	NP_000268.1:p.Phe39del	NC_000012.11:g.103306619_103306621delAGA	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.117C>G (p.Phe39Leu)	5053	PAH	Pathogenic	62642926	RCV000000636; RCV000078504;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103306620	103306620	NM_000277.1:c.117C>G	NP_000268.1:p.Phe39Leu	NC_000012.11:g.103306620G>C	HGMD:CM910280,OMIM Allelic Variant:612349.0031	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.110T>C (p.Leu37Pro)	5053	PAH	Likely pathogenic	869312996	RCV000210792;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103306627	103306627	NM_000277.1:c.110T>C	NP_000268.1:p.Leu37Pro	NC_000012.11:g.103306627A>G	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.60+5G>T	5053	PAH	Pathogenic	62514895	RCV000173096; RCV000089000;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103310844	103310844	NM_000277.1:c.60+5G>T		NC_000012.11:g.103310844C>A,NC_000012.11:g.103310844C>T	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.60+5G>A	5053	PAH	Likely pathogenic	62514895	RCV000106362;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006	12	103310844	103310844	NM_000277.1:c.60+5G>A		NC_000012.11:g.103310844C>A,NC_000012.11:g.103310844C>T	-	C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.58C>T (p.Gln20Ter)	5053	PAH	Likely pathogenic	199475585	RCV000169450; RCV000088993;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103310851	103310851	NM_000277.1:c.58C>T	NP_000268.1:p.Gln20Ter	NC_000012.11:g.103310851G>A	-	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.47_48delCT (p.Ser16Terfs)	5053	PAH	Likely pathogenic;Pathogenic	62642906	RCV000153638; RCV000088944;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103310861	103310862	NM_000277.1:c.47_48delCT	NP_000268.1:p.Ser16Terfs	NC_000012.11:g.103310861_103310862delAG	HGMD:CD951813	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.3G>A (p.Met1Ile)	5053	PAH	Pathogenic	62514893	RCV000000653; RCV000088911;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:CN221809	12	103310906	103310906	NM_000277.1:c.3G>A	NP_000268.1:p.Met1Ile	NC_000012.11:g.103310906C>T	OMIM Allelic Variant:612349.0048	CN221809 not provided; C0031485 261600 Phenylketonuria
NM_000277.1(PAH):c.1A>G (p.Met1Val)	5053	PAH	Likely pathogenic;Pathogenic	62514891	RCV000000616; RCV000000617; RCV000088868;	N	MedGen:C0031485,OMIM:261600,ORPHA:716,SNOMED CT:154735006; MedGen:C0751435; MedGen:CN221809	12	103310908	103310908	NM_000277.1:c.1A>G	NP_000268.1:p.Met1Val	NC_000012.11:g.103310908T>A,NC_000012.11:g.103310908T>C	OMIM Allelic Variant:612349.0009	C0751435 Hyperphenylalaninemia, non-pku; CN221809 not provided; C0031485 261600 Phenylketonuria