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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCH1, LOC130055692
Single nucleotide variant
GTP cyclohydrolase I deficiency
+1 more
GLikely benign
SPR
Single nucleotide variant
(3 prime UTR variant)
Dopa-responsive dystonia
GUncertain significance
LOC129934069, SPR
Single nucleotide variant
Dopa-responsive dystonia
GUncertain significance
GCH1, LOC130055692
Single nucleotide variant
(5 prime UTR variant)
Dopa-responsive dystonia
+1 more
GUncertain significance
GCH1
(K213fs)
Microsatellite
(3 prime UTR variant +2 more)
Dopa-responsive dystonia
+1 more
GUncertain significance
GCH1
Microsatellite
(3 prime UTR variant +1 more)
Dopa-responsive dystonia
+2 more
GBenign
GCH1
Insertion
(3 prime UTR variant)
Dopa-responsive dystonia
+2 more
GBenign
GCH1
Duplication
(3 prime UTR variant)
Dopa-responsive dystonia
+1 more
GLikely benign
GCH1
Single nucleotide variant
(3 prime UTR variant)
Dopa-responsive dystonia
+1 more
GLikely benign
GCH1
(V204I)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
GCH1
(K224R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
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