Related gene-specific medical variations for Gene (Select 2643) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342444	NM_000161.3(GCH1):c.-26C>T	GCH1, LOC130055692	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3243959	NC_000014.8:g.(?_55310735)_(55312590_?)dup	GCH1	Duplication	Dystonia 5 +1 more	GUncertain significance
Select item 3243958	NC_000014.8:g.(?_55310735)_(55369403_?)del	GCH1	Deletion	Dystonia 5 +1 more	GPathogenic
Select item 3069162	NM_000161.3(GCH1):c.260_261insTGAGAACCCCCA (p.Pro86_Gln87insHisGluAsnPro)	GCH1	Insertion (inframe_insertion)	GTP cyclohydrolase I deficiency with hyperphenylalaninemia	GLikely pathogenic
Select item 3050919	NM_000161.3(GCH1):c.92G>T (p.Gly31Val)	GCH1, LOC130055692 (G31V)	Single nucleotide variant (missense variant)	GCH1-related disorder	GUncertain significance
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 2949734	NM_000161.3(GCH1):c.69C>G (p.Pro23=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	Dystonia 5 +1 more	GLikely benign
Select item 2948083	NM_000161.3(GCH1):c.75G>C (p.Arg25=)	GCH1, LOC130055692	Single nucleotide variant (synonymous 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 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 2943588	NM_000161.3(GCH1):c.72G>A (p.Glu24=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	Dystonia 5 +1 more	GLikely benign
Select item 2942592	NM_000161.3(GCH1):c.96C>G (p.Pro32=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	Dystonia 5 +1 more	GLikely benign
Select item 2941134	NM_000161.3(GCH1):c.91G>C (p.Gly31Arg)	GCH1, LOC130055692 (G31R)	Single nucleotide variant (missense variant)	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 2933924	NM_000161.3(GCH1):c.90C>G (p.Pro30=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	Dystonia 5 +1 more	GLikely benign
Select item 2933641	NM_000161.3(GCH1):c.30G>A (p.Ala10=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	Dystonia 5 +1 more	GLikely benign
Select item 2933378	NM_000161.3(GCH1):c.75G>A (p.Arg25=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	Dystonia 5 +1 more	GLikely benign
Select item 2932919	NM_000161.3(GCH1):c.25C>T (p.Pro9Ser)	GCH1, LOC130055692 (P9S)	Single nucleotide variant (missense variant)	Dystonia 5 +1 more	GUncertain significance
Select item 2929224	NM_000161.3(GCH1):c.27G>T (p.Pro9=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	Dystonia 5 +1 more	GLikely benign
Select item 2926199	NM_000161.3(GCH1):c.93G>A (p.Gly31=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	Dystonia 5 +1 more	GLikely benign
Select item 2925520	NM_000161.3(GCH1):c.-22C>T	GCH1, LOC130055692	Single nucleotide variant (5 prime UTR variant)	Dystonia 5 +1 more	GPathogenic
Select item 2922471	NM_000161.3(GCH1):c.39G>C (p.Pro13=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	Dystonia 5 +1 more	GLikely benign
Select item 2921954	NM_000161.3(GCH1):c.12C>A (p.Gly4=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	Dystonia 5 +1 more	GLikely benign
Select item 2504993	NM_000161.3(GCH1):c.19C>T (p.Arg7Trp)	GCH1, LOC130055692 (R7W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432081	NM_000161.3(GCH1):c.10G>A (p.Gly4Ser)	GCH1, LOC130055692 (G4S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2186792	NM_000161.3(GCH1):c.90C>T (p.Pro30=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	Dystonia 5 +1 more	GLikely benign
Select item 2182754	NM_000161.3(GCH1):c.73C>T (p.Arg25Trp)	GCH1, LOC130055692 (R25W)	Single nucleotide variant (missense variant)	Dystonia 5 +1 more	GUncertain significance
Select item 2147592	NM_000161.3(GCH1):c.66C>T (p.Phe22=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 2140614	NM_000161.3(GCH1):c.43G>A (p.Gly15Ser)	GCH1, LOC130055692 (G15S)	Single nucleotide variant (missense variant)	Dystonia 5 +1 more	GUncertain significance
Select item 2135615	NM_000161.3(GCH1):c.49del (p.Arg17fs)	GCH1, LOC130055692 (R17fs)	Deletion (frameshift variant)	Dystonia 5 +1 more	GPathogenic
Select item 2088570	NM_000161.3(GCH1):c.82C>T (p.Pro28Ser)	GCH1, LOC130055692 (P28S)	Single nucleotide variant (missense variant)	Dystonia 5 +1 more	GUncertain significance
Select item 1807219	NM_000161.3(GCH1):c.557C>T (p.Thr186Ile)	GCH1 (T186I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1694720	NM_000161.3(GCH1):c.4G>A (p.Glu2Lys)	GCH1, LOC130055692 (E2K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678081	NM_000161.3(GCH1):c.-37G>A	GCH1, LOC130055692	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1635656	NM_000161.3(GCH1):c.344-16715G>C	GCH1, LOC130055688	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 1627837	NM_000161.3(GCH1):c.33G>A (p.Glu11=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	Dystonia 5 +1 more	GLikely benign
Select item 1618829	NM_000161.3(GCH1):c.344-16715G>T	GCH1, LOC130055688	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GLikely benign
Select item 1552714	NM_000161.3(GCH1):c.27G>C (p.Pro9=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	GTP cyclohydrolase I deficiency +2 more	GLikely benign
Select item 1520609	NM_000161.3(GCH1):c.115C>A (p.Pro39Thr)	GCH1, LOC130055692 (P39T)	Single nucleotide variant (missense variant)	Dystonia 5 +1 more	GUncertain significance
Select item 1508497	NM_000161.3(GCH1):c.97A>T (p.Ser33Cys)	GCH1, LOC130055692 (S33C)	Single nucleotide variant (missense variant)	Dystonia 5 +1 more	GUncertain significance
Select item 1464467	NM_000161.3(GCH1):c.22G>C (p.Ala8Pro)	GCH1, LOC130055692 (A8P)	Single nucleotide variant (missense variant)	Dystonia 5 +1 more	GUncertain significance
Select item 1452723	NM_000161.3(GCH1):c.1A>C (p.Met1Leu)	GCH1, LOC130055692 (M1L)	Single nucleotide variant (missense variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GPathogenic
Select item 1431041	NM_000161.3(GCH1):c.16G>T (p.Val6Leu)	GCH1, LOC130055692 (V6L)	Single nucleotide variant (missense variant)	Dystonia 5 +2 more	GUncertain significance
Select item 1426335	NM_000161.3(GCH1):c.83C>T (p.Pro28Leu)	GCH1, LOC130055692 (P28L)	Single nucleotide variant (missense variant)	Dystonia 5 +1 more	GUncertain significance
Select item 1360090	NM_000161.3(GCH1):c.89C>G (p.Pro30Arg)	GCH1, LOC130055692 (P30R)	Single nucleotide variant (missense variant)	Dystonia 5 +1 more	GUncertain significance
Select item 1354621	NM_000161.3(GCH1):c.109G>T (p.Glu37Ter)	GCH1, LOC130055692 (E37*)	Single nucleotide variant (nonsense)	GTP cyclohydrolase I deficiency +1 more	GPathogenic
Select item 1331138	NM_000161.3(GCH1):c.11G>A (p.Gly4Asp)	GCH1, LOC130055692 (G4D)	Single nucleotide variant (missense variant)	Dystonia 5 +2 more	GUncertain significance
Select item 1195520	NM_000161.3(GCH1):c.343+286T>G	GCH1, LOC130055690	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193688	NM_000161.3(GCH1):c.59A>G (p.Asn20Ser)	GCH1, LOC130055692 (N20S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1169986	NM_000161.3(GCH1):c.344-16715G>A	GCH1, LOC130055688	Single nucleotide variant (intron variant)	GTP cyclohydrolase I deficiency +1 more	GBenign
Select item 966562	NM_000161.3(GCH1):c.22G>T (p.Ala8Ser)	GCH1, LOC130055692 (A8S)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 939309	NM_000161.3(GCH1):c.13C>G (p.Pro5Ala)	GCH1, LOC130055692 (P5A)	Single nucleotide variant (missense variant)	Dystonia 5 +1 more	GUncertain significance
Select item 882973	NM_000161.3(GCH1):c.-69G>C	GCH1, LOC130055692	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 807116	NM_000161.3(GCH1):c.234C>G (p.Ile78Met)	GCH1 (I78M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 803029	NM_000161.3(GCH1):c.26_27insTCT (p.Pro9_Ala10insLeu)	GCH1, LOC130055692	Insertion (inframe_insertion)	GTP cyclohydrolase I deficiency	GPathogenic
Select item 795024	NM_000161.3(GCH1):c.42G>A (p.Arg14=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	Dystonia 5 +1 more	GLikely benign
Select item 685932	GRCh37/hg19 14q22.2(chr14:55329585-55355031)x1	GCH1	Copy number loss	not provided	GPathogenic
Select item 647643	NM_000161.3(GCH1):c.76del (p.Asp26fs)	GCH1, LOC130055692 (D26fs)	Deletion (frameshift variant)	Dystonia 5 +1 more	GPathogenic
Select item 642685	NM_000161.3(GCH1):c.1A>G (p.Met1Val)	GCH1, LOC130055692 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 585905	NM_000161.3(GCH1):c.22G>A (p.Ala8Thr)	GCH1, LOC130055692 (A8T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 560371	NM_000161.3(GCH1):c.126dup (p.Glu43fs)	GCH1 (E43fs)	Duplication (frameshift variant)	Dystonic disorder	GPathogenic
Select item 522898	NM_000161.3(GCH1):c.274C>A (p.Leu92Ile)	GCH1 (L92I)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 465758	NM_000161.3(GCH1):c.1A>T (p.Met1Leu)	GCH1, LOC130055692 (M1L)	Single nucleotide variant (missense variant +1 more)	Dystonia 5 +1 more	GPathogenic
Select item 459898	NM_000161.3(GCH1):c.119C>G (p.Pro40Arg)	GCH1, LOC130055692 (P40R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 447374	NM_000161.3(GCH1):c.13_19del (p.Pro5fs)	GCH1, LOC130055692 (P5fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 313406	NM_000161.3(GCH1):c.-131C>T	GCH1, LOC130055692	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 313405	NM_000161.3(GCH1):c.-125A>C	GCH1, LOC130055692	Single nucleotide variant (5 prime UTR variant)	Dystonia 5 +1 more	GUncertain significance
Select item 313404	NM_000161.3(GCH1):c.-121T>C	GCH1, LOC130055692	Single nucleotide variant (5 prime UTR variant)	GTP cyclohydrolase I deficiency +2 more	GBenign
Select item 313403	NM_000161.3(GCH1):c.-106G>A	GCH1, LOC130055692	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	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 313401	NM_000161.3(GCH1):c.-72C>T	GCH1, LOC130055692	Single nucleotide variant (5 prime UTR variant)	Dystonia 5 +1 more	GUncertain significance
Select item 313400	NM_000161.3(GCH1):c.-56G>A	GCH1, LOC130055692	Single nucleotide variant (5 prime UTR variant)	Dystonia 5 +2 more	GUncertain significance
Select item 313399	NM_000161.3(GCH1):c.-5G>C	GCH1, LOC130055692	Single nucleotide variant (5 prime UTR variant)	Dystonia 5 +2 more	GUncertain significance
Select item 313398	NM_000161.3(GCH1):c.68C>T (p.Pro23Leu)	LOC130055692, GCH1 (P23L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 313397	NM_000161.3(GCH1):c.69C>T (p.Pro23=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	Dystonia 5 +2 more	GBenign/Likely benign
Select item 255397	NM_000161.3(GCH1):c.-40C>T	GCH1, LOC130055692	Single nucleotide variant (5 prime UTR variant)	Dystonia 5 +3 more	GBenign
Select item 9277	NM_000161.3(GCH1):c.3G>C (p.Met1Ile)	GCH1, LOC130055692 (M1I)	Single nucleotide variant (missense variant +1 more)	Dystonia 5	GPathogenic
Select item 9273	NM_000161.3(GCH1):c.3_4dup (p.Glu2fs)	GCH1, LOC130055692 (E2fs)	Duplication (frameshift variant +1 more)	Dystonia 5	GPathogenic

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Items: 78