ClinVar for MedGen (Select 342121) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061843	GRCh38/hg38 14q22.2-22.3(chr14:53949639-56297420)x1	CGRRF1, LOC130055695 +89 more	Copy number loss	Dystonia 5	GPathogenic
Select item 2954084	NM_000161.3(GCH1):c.111G>A (p.Glu37=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2953790	NM_000161.3(GCH1):c.280A>G (p.Thr94Ala)	GCH1 (T94A)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2953555	NM_000161.3(GCH1):c.601G>C (p.Gly201Arg)	GCH1 (G103R +1 more)	Single nucleotide variant (intron variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GPathogenic
Select item 2952804	NM_000161.3(GCH1):c.509+20G>C	GCH1	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2952005	NM_000161.3(GCH1):c.187G>A (p.Asp63Asn)	GCH1 (D63N)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2951363	NM_000161.3(GCH1):c.510-13C>A	GCH1	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2949734	NM_000161.3(GCH1):c.69C>G (p.Pro23=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2949710	NM_000161.3(GCH1):c.138C>A (p.Ser46Arg)	GCH1 (S46R)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2949510	NM_000161.3(GCH1):c.491G>C (p.Gly164Ala)	GCH1 (G66A +1 more)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2949096	NM_000161.3(GCH1):c.626+18T>A	GCH1	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2948981	NM_000161.3(GCH1):c.476A>G (p.Asn159Ser)	GCH1 (N61S +1 more)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2948206	NM_000161.3(GCH1):c.687A>G (p.Thr229=)	GCH1	Single nucleotide variant (synonymous variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2948170	NM_000161.3(GCH1):c.627-2A>G	GCH1	Single nucleotide variant (intron variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2948083	NM_000161.3(GCH1):c.75G>C (p.Arg25=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2947713	NM_000161.3(GCH1):c.351A>C (p.Leu117=)	GCH1	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2947428	NM_000161.3(GCH1):c.307C>T (p.Gln103Ter)	GCH1 (Q103*)	Single nucleotide variant (nonsense)	GTP cyclohydrolase I deficiency +1 more	GPathogenic
Select item 2947287	NM_000161.3(GCH1):c.635G>A (p.Cys212Tyr)	GCH1 (C212Y +1 more)	Single nucleotide variant (missense variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2947209	NM_000161.3(GCH1):c.542-12T>C	GCH1	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2947175	NM_000161.3(GCH1):c.454-16C>T	GCH1	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2946941	NM_000161.3(GCH1):c.627-19G>T	GCH1	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2946531	NM_000161.3(GCH1):c.627-10del	GCH1	Deletion (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2946417	NM_000161.3(GCH1):c.349C>T (p.Leu117=)	GCH1	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2945953	NM_000161.3(GCH1):c.591G>C (p.Leu197Phe)	GCH1 (L197F +1 more)	Single nucleotide variant (missense variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2945693	NM_000161.3(GCH1):c.626+6T>G	GCH1	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2945587	NM_000161.3(GCH1):c.509+9G>A	GCH1	Single nucleotide variant (intron variant)	Dystonia 5 +1 more	GLikely benign
Select item 2945435	NM_000161.3(GCH1):c.120G>C (p.Pro40=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	Dystonia 5 +1 more	GLikely benign
Select item 2945325	NM_000161.3(GCH1):c.453+16T>C	GCH1	Single nucleotide variant (intron variant)	Dystonia 5 +1 more	GLikely benign
Select item 2944146	NM_000161.3(GCH1):c.93G>T (p.Gly31=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	Dystonia 5 +1 more	GLikely benign
Select item 2943733	NM_000161.3(GCH1):c.509+14T>C	GCH1	Single nucleotide variant (intron variant)	Dystonia 5 +1 more	GLikely benign
Select item 2943729	NM_000161.3(GCH1):c.268G>A (p.Gly90Arg)	GCH1 (G90R)	Single nucleotide variant (missense variant)	Dystonia 5 +1 more	GLikely pathogenic
Select item 2943588	NM_000161.3(GCH1):c.72G>A (p.Glu24=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2943583	NM_000161.3(GCH1):c.752G>A (p.Ter251=)	GCH1	Single nucleotide variant (synonymous variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2943393	NM_000161.3(GCH1):c.615G>A (p.Val205=)	GCH1	Single nucleotide variant (synonymous variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2943086	NM_000161.3(GCH1):c.174C>T (p.Pro58=)	GCH1	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2943014	NM_000161.3(GCH1):c.594G>T (p.Arg198=)	GCH1	Single nucleotide variant (synonymous variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2942642	NM_000161.3(GCH1):c.273G>A (p.Leu91=)	GCH1	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2942592	NM_000161.3(GCH1):c.96C>G (p.Pro32=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2942445	NM_000161.3(GCH1):c.344-14G>C	GCH1	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2942393	NM_000161.3(GCH1):c.246G>C (p.Leu82=)	GCH1	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2942124	NM_000161.3(GCH1):c.480G>A (p.Lys160=)	GCH1	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2942059	NM_000161.3(GCH1):c.162G>A (p.Lys54=)	GCH1	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2941788	NM_000161.3(GCH1):c.440_453+9dup	GCH1	Duplication (splice donor variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2941134	NM_000161.3(GCH1):c.91G>C (p.Gly31Arg)	GCH1, LOC130055692 (G31R)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2940815	NM_000161.3(GCH1):c.454-13C>G	GCH1	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2940814	NM_000161.3(GCH1):c.542-20G>A	GCH1	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2940635	NM_000161.3(GCH1):c.439C>A (p.Pro147Thr)	GCH1 (P147T +1 more)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2940349	NM_000161.3(GCH1):c.394G>A (p.Val132Met)	GCH1 (V132M +1 more)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2940320	NM_000161.3(GCH1):c.432C>T (p.His144=)	GCH1	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2939455	NM_000161.3(GCH1):c.486C>A (p.Val162=)	GCH1	Single nucleotide variant (synonymous variant)	Dystonia 5 +1 more	GLikely benign
Select item 2938967	NM_000161.3(GCH1):c.549G>A (p.Glu183=)	GCH1	Single nucleotide variant (synonymous variant +1 more)	Dystonia 5 +1 more	GLikely benign
Select item 2938928	NM_000161.3(GCH1):c.509+16C>T	GCH1	Single nucleotide variant (intron variant)	Dystonia 5 +1 more	GLikely benign
Select item 2938690	NM_000161.3(GCH1):c.509+9G>T	GCH1	Single nucleotide variant (intron variant)	Dystonia 5 +1 more	GLikely benign
Select item 2938609	NM_000161.3(GCH1):c.627-14_627-10del	GCH1	Deletion (intron variant)	Dystonia 5 +1 more	GLikely benign
Select item 2937916	NM_000161.3(GCH1):c.750C>T (p.Ser250=)	GCH1	Single nucleotide variant (synonymous variant +1 more)	Dystonia 5 +1 more	GUncertain significance
Select item 2937721	NM_000161.3(GCH1):c.96C>T (p.Pro32=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	Dystonia 5 +1 more	GLikely benign
Select item 2936997	NM_000161.3(GCH1):c.453+14T>C	GCH1	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2936480	NM_000161.3(GCH1):c.270G>A (p.Gly90=)	GCH1	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2936189	NM_000161.3(GCH1):c.666C>T (p.Asn222=)	GCH1	Single nucleotide variant (synonymous variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2936154	NM_000161.3(GCH1):c.183G>A (p.Glu61=)	GCH1	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2934404	NM_000161.3(GCH1):c.343+17G>A	GCH1	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2934345	NM_000161.3(GCH1):c.324C>A (p.Gly108=)	GCH1	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2934213	NM_000161.3(GCH1):c.525T>C (p.Tyr175=)	GCH1	Single nucleotide variant (synonymous variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2933924	NM_000161.3(GCH1):c.90C>G (p.Pro30=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2933641	NM_000161.3(GCH1):c.30G>A (p.Ala10=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2933378	NM_000161.3(GCH1):c.75G>A (p.Arg25=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2933136	NM_000161.3(GCH1):c.234C>T (p.Ile78=)	GCH1	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2932919	NM_000161.3(GCH1):c.25C>T (p.Pro9Ser)	GCH1, LOC130055692 (P9S)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2932320	NM_000161.3(GCH1):c.344-9del	GCH1	Deletion (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2931663	NM_000161.3(GCH1):c.541+10A>G	GCH1	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2931248	NM_000161.3(GCH1):c.198G>C (p.Leu66=)	GCH1	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2930589	NM_000161.3(GCH1):c.542-13A>G	GCH1	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2930211	NM_000161.3(GCH1):c.573A>G (p.Val191=)	GCH1	Single nucleotide variant (synonymous variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2929848	NM_000161.3(GCH1):c.164G>A (p.Gly55Asp)	GCH1 (G55D)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2929224	NM_000161.3(GCH1):c.27G>T (p.Pro9=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2929043	NM_000161.3(GCH1):c.714A>T (p.Pro238=)	GCH1	Single nucleotide variant (intron variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2928982	NM_000161.3(GCH1):c.747_748delinsCT (p.Arg249_Ser250delinsSerCys)	GCH1	Indel (missense variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2928762	NM_000161.3(GCH1):c.300G>C (p.Ser100=)	GCH1	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2928133	NM_000161.3(GCH1):c.343+12C>G	GCH1	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2928087	NM_000161.3(GCH1):c.343+14_343+15del	GCH1	Microsatellite (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2927911	NM_000161.3(GCH1):c.509+12T>A	GCH1	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2927553	NM_000161.3(GCH1):c.418A>G (p.Met140Val)	GCH1 (M42V +1 more)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2927021	NM_000161.3(GCH1):c.303C>T (p.Ala101=)	GCH1	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2926905	NM_000161.3(GCH1):c.343+10C>T	GCH1	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2926831	NM_000161.3(GCH1):c.235C>T (p.Leu79=)	GCH1	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2926692	NM_000161.3(GCH1):c.140C>T (p.Ala47Val)	GCH1 (A47V)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2926221	NM_000161.3(GCH1):c.154G>T (p.Gly52Cys)	GCH1 (G52C)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2926217	NM_000161.3(GCH1):c.626+9G>C	GCH1	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2926199	NM_000161.3(GCH1):c.93G>A (p.Gly31=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2926135	NM_000161.3(GCH1):c.361A>G (p.Ile121Val)	GCH1 (I121V +1 more)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2925684	NM_000161.3(GCH1):c.145C>T (p.Pro49Ser)	GCH1 (P49S)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2925520	NM_000161.3(GCH1):c.-22C>T	GCH1, LOC130055692	Single nucleotide variant (5 prime UTR variant)	GTP cyclohydrolase I deficiency +1 more	GPathogenic
Select item 2925519	NM_000161.3(GCH1):c.453+1G>A	GCH1	Single nucleotide variant (splice donor variant)	GTP cyclohydrolase I deficiency +1 more	GPathogenic
Select item 2925518	NM_000161.3(GCH1):c.458A>G (p.His153Arg)	GCH1 (H55R +1 more)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2925516	NM_000161.3(GCH1):c.631A>G (p.Met211Val)	GCH1 (M211V +1 more)	Single nucleotide variant (missense variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GLikely pathogenic
Select item 2925515	NM_000161.3(GCH1):c.721C>T (p.Arg241Trp)	GCH1 (R241W +1 more)	Single nucleotide variant (missense variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2925514	NM_000161.3(GCH1):c.751T>C (p.Ter251Arg)	GCH1	Single nucleotide variant (stop lost +1 more)	GTP cyclohydrolase I deficiency +1 more	GPathogenic
Select item 2925087	NM_000161.3(GCH1):c.498C>T (p.Ser166=)	GCH1	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2924823	NM_000161.3(GCH1):c.575C>T (p.Ala192Val)	GCH1 (A94V +1 more)	Single nucleotide variant (missense variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2924519	NM_000161.3(GCH1):c.474T>C (p.Pro158=)	GCH1	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign

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