ClinVar for MedGen (Select 808180) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369073	NM_000161.2(GCH1):c.-169C>T	GCH1, LOC130055692	Single nucleotide variant	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 336994	NM_003124.5(SPR):c.*308C>T	SPR	Single nucleotide variant (3 prime UTR variant)	Dopa-responsive dystonia	GUncertain significance
Select item 336986	NM_003124.4(SPR):c.-40C>G	LOC129934069, SPR	Single nucleotide variant	Dopa-responsive dystonia	GUncertain significance
Select item 313402	NM_000161.3(GCH1):c.-98C>T	GCH1, LOC130055692	Single nucleotide variant (5 prime UTR variant)	Dopa-responsive dystonia +1 more	GUncertain significance
Select item 313387	NM_000161.3(GCH1):c.*155AATA[1]	GCH1 (K213fs)	Microsatellite (3 prime UTR variant +2 more)	Dopa-responsive dystonia +1 more	GUncertain significance
Select item 313375	NM_000161.3(GCH1):c.*883CTT[3]	GCH1	Microsatellite (3 prime UTR variant +1 more)	Dopa-responsive dystonia +2 more	GBenign
Select item 313373	NM_000161.3(GCH1):c.1056_1057insAT	GCH1	Insertion (3 prime UTR variant)	Dopa-responsive dystonia +2 more	GBenign
Select item 313364	NM_000161.3(GCH1):c.1463_1464dup	GCH1	Duplication (3 prime UTR variant)	Dopa-responsive dystonia +1 more	GLikely benign
Select item 313362	NM_000161.3(GCH1):c.*1479G>T	GCH1	Single nucleotide variant (3 prime UTR variant)	Dopa-responsive dystonia +1 more	GLikely benign
Select item 161248	NM_000161.3(GCH1):c.610G>A (p.Val204Ile)	GCH1 (V204I)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +3 more	GConflicting classifications of pathogenicity
Select item 9283	NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)	GCH1 (K224R)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity