Total 11 pathogenic variants reported for GTP cyclohydrolase I deficiency with hyperphenylalaninemia 
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

11 SubmittersRCV000000509RCV002264906RCV003153291RCV003982818

NM_000161.3(GCH1):c.662T>C (p.Met221Thr) SNV
Germline
Chr14:54844108 Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency
Dystonia 5
Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
Dystonia 5
Intellectual disability
Dystonia 5
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA120278 rs_104894434

8 SubmittersRCV001851776RCV002508112RCV004786251RCV001260617RCV005400412RCV002223756RCV004766995

NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) SNV
Germline
Chr14:54844099 Conflicting classifications of pathogenicity Dystonia 5
Condition: not provided
Dystonia 5
GTP cyclohydrolase I deficiency
GTP cyclohydrolase I deficiency
Dopa-responsive dystonia
Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
Inborn genetic diseases
Dystonia 5
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
Criteria Provided
Conflicting Classifications
CA120280 rs_41298442

16 SubmittersRCV000009865RCV000517539RCV000525589RCV000989227RCV002255090RCV002508114RCV002512951RCV005003351RCV005252669

NM_000161.3(GCH1):c.633G>A (p.Met211Ile) SNV
Germline
Chr14:54844137 Pathogenic GTP cyclohydrolase I deficiency with hyperphenylalaninemia No Assertion Criteria Provided
CA120282 rs_104894443

1 SubmittersRCV004576896

NM_000161.3(GCH1):c.551G>A (p.Arg184His) SNV
Germline
Chr14:54845843 Pathogenic GTP cyclohydrolase I deficiency
Condition: not provided
GTP cyclohydrolase I deficiency
Dystonia 5
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
Criteria Provided
Multiple Submitters
No Conflicts
CA120283 rs_104894445

4 SubmittersRCV000009873RCV003137509RCV003764543RCV004576897

NM_000161.3(GCH1):c.610G>A (p.Val204Ile) SNV
Germline
Chr14:54845784 Conflicting classifications of pathogenicity Dopa-responsive dystonia
Condition: not provided
Dystonia 5
GTP cyclohydrolase I deficiency
Dystonia 5
not specified
Dystonia 5
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
Intellectual disability
Criteria Provided
Conflicting Classifications
CA211435 rs_200891969

12 SubmittersRCV000148506RCV000489411RCV000819611RCV001705951RCV001797636RCV005359312RCV005625324

NM_000161.3(GCH1):c.644T>C (p.Met215Thr) SNV
Germline
Chr14:54844126 Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency with hyperphenylalaninemia Criteria Provided
Conflicting Classifications
CA389787204 rs_2140038918

2 SubmittersRCV002264873

NM_000317.3(PTS):c.108C>A (p.Asn36Lys) SNV
Germline
Chr11:112228618 Likely pathogenic GTP cyclohydrolase I deficiency with hyperphenylalaninemia No Assertion Criteria Provided
CA382627000 rs_1449216377

1 SubmittersRCV003983773

NM_000161.3(GCH1):c.667A>G (p.Ser223Gly) SNV
Germline
Chr14:54844103 Pathogenic GTP cyclohydrolase I deficiency with hyperphenylalaninemia Criteria Provided
Single Submitter

1 SubmittersRCV005233280