Total 3 pathogenic variants reported for Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000317.3(PTS):c.259C>T (p.Pro87Ser)	SNV Germline	Chr11:112233178	Pathogenic	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency Condition: not provided Hyperphenylalaninemia due to tetrahydrobiopterin deficiency GTP cyclohydrolase I deficiency with hyperphenylalaninemia	Criteria Provided Multiple Submitters No Conflicts	CA114319	rs_104894276	10 SubmittersRCV000000509 RCV002264906 RCV003153291 RCV003982818
NM_000320.3(QDPR):c.68G>A (p.Gly23Asp)	SNV Germline	Chr4:17511987	Pathogenic/Likely pathogenic	Dihydropteridine reductase deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA114324	rs_104893863	4 SubmittersRCV000000519 RCV003153240
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu)	SNV Germline	Chr14:54902458	Conflicting classifications of pathogenicity	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency GTP cyclohydrolase I deficiency Dystonia 5 Condition: not provided Dystonia 5 GTP cyclohydrolase I deficiency GCH1-related disorder	Criteria Provided Conflicting Classifications	CA211433	rs_56127440	8 SubmittersRCV000148505 RCV000265088 RCV000362082 RCV000585377 RCV000687434 RCV003917463