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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCH1
Insertion
(inframe_insertion)
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
GLikely pathogenic
PTS
(L31I)
Single nucleotide variant
(missense variant)
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
GUncertain significance
PTS
(N36K)
Single nucleotide variant
(missense variant)
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
GLikely pathogenic
GCH1
(M215T)
Single nucleotide variant
(missense variant +1 more)
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
GLikely pathogenic
GCH1, LOC130055692
(V6L)
Single nucleotide variant
(missense variant)
Dystonia 5
+2 more
GUncertain significance
GCH1
(S100L)
Single nucleotide variant
(missense variant)
Dystonia 5
+2 more
GUncertain significance
GCH1
(V172I)
Single nucleotide variant
(missense variant)
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
GUncertain significance
GCH1
Single nucleotide variant
(3 prime UTR variant)
Dystonia 5
+2 more
GUncertain significance
GCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
GTP cyclohydrolase I deficiency
+2 more
GUncertain significance
GCH1
(Q110E)
Single nucleotide variant
(missense variant)
Dystonia 5
+3 more
GUncertain significance
LOC130055692, GCH1
Single nucleotide variant
(5 prime UTR variant)
Dystonia 5
+2 more
GUncertain significance
GCH1
Single nucleotide variant
(3 prime UTR variant)
Dystonia 5
+2 more
GUncertain significance
PTS
(P87S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
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