2643[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 146623	GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1	BMP4, CDKN3 +147 more	Copy number loss	See cases	GPathogenic
Select item 3061843	GRCh38/hg38 14q22.2-22.3(chr14:53949639-56297420)x1	LOC130055670, LOC130055671 +89 more	Copy number loss	Dystonia 5	GPathogenic
Select item 9291	NC_000014.9:g.(?_54842017)_(54902826_?)del	GCH1, LOC130055686 +7 more	Deletion	Dystonia 5	GPathogenic
Select item 313357	NM_000161.3(GCH1):c.*1915T>C	GCH1	Single nucleotide variant (3 prime UTR variant)	Dystonia 5 +1 more	GBenign
Select item 313358	NM_000161.3(GCH1):c.*1907A>G	GCH1	Single nucleotide variant (3 prime UTR variant)	Dystonia 5 +1 more	GUncertain significance
Select item 883578	NM_000161.3(GCH1):c.*1855A>G	GCH1	Single nucleotide variant (3 prime UTR variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 313359	NM_000161.3(GCH1):c.*1824A>C	GCH1	Single nucleotide variant (3 prime UTR variant)	Dystonia 5 +1 more	GUncertain significance
Select item 313360	NM_000161.3(GCH1):c.*1719C>T	GCH1	Single nucleotide variant (3 prime UTR variant)	Dystonia 5 +1 more	GUncertain significance
Select item 313361	NM_000161.3(GCH1):c.*1628A>C	GCH1	Single nucleotide variant (3 prime UTR variant)	Dystonia 5 +2 more	GUncertain significance
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 313363	NM_000161.3(GCH1):c.*1473A>G	GCH1	Single nucleotide variant (3 prime UTR variant)	Dystonia 5 +1 more	GUncertain significance
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 881215	NM_000161.3(GCH1):c.*1294A>G	GCH1	Single nucleotide variant (3 prime UTR variant)	Dystonia 5 +1 more	GUncertain significance
Select item 313365	NM_000161.3(GCH1):c.*1283A>C	GCH1	Single nucleotide variant (3 prime UTR variant)	Dystonia 5 +1 more	GUncertain significance
Select item 313366	NM_000161.3(GCH1):c.*1257C>T	GCH1	Single nucleotide variant (3 prime UTR variant)	Dystonia 5 +1 more	GUncertain significance
Select item 313367	NM_000161.3(GCH1):c.*1230C>T	GCH1	Single nucleotide variant (3 prime UTR variant)	Dystonia 5 +2 more	GBenign
Select item 313368	NM_000161.3(GCH1):c.*1183C>T	GCH1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 313369	NM_000161.3(GCH1):c.*1176C>G	GCH1	Single nucleotide variant (3 prime UTR variant)	Dystonia 5 +1 more	GBenign/Likely benign
Select item 313370	NM_000161.3(GCH1):c.*1142G>A	GCH1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 313371	NM_000161.3(GCH1):c.*1130C>G	GCH1	Single nucleotide variant (3 prime UTR variant)	Dystonia 5 +1 more	GBenign/Likely benign
Select item 313372	NM_000161.3(GCH1):c.*1122A>T	GCH1	Single nucleotide variant (3 prime UTR variant)	Dystonia 5 +2 more	GBenign/Likely benign
Select item 883617	NM_000161.3(GCH1):c.*1058G>A	GCH1	Single nucleotide variant (3 prime UTR variant)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 313373	NM_000161.3(GCH1):c.1056_1057insAT	GCH1	Insertion (3 prime UTR variant)	Dopa-responsive dystonia +2 more	GBenign
Select item 883618	NM_000161.3(GCH1):c.*1044G>A	GCH1	Single nucleotide variant (3 prime UTR variant)	GTP cyclohydrolase I deficiency +1 more	GConflicting classifications of pathogenicity
Select item 883619	NM_000161.3(GCH1):c.*1042A>G	GCH1	Single nucleotide variant (3 prime UTR variant)	Dystonia 5 +1 more	GUncertain significance
Select item 883620	NM_000161.3(GCH1):c.*1033C>T	GCH1	Single nucleotide variant (3 prime UTR variant)	Dystonia 5 +2 more	GUncertain significance
Select item 313374	NM_000161.3(GCH1):c.*1010C>T	GCH1	Single nucleotide variant (3 prime UTR variant)	GTP cyclohydrolase I deficiency +1 more	GConflicting classifications of pathogenicity
Select item 881260	NM_000161.3(GCH1):c.*935A>C	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	GTP cyclohydrolase I deficiency +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 313376	NM_000161.3(GCH1):c.*830A>T	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Dystonia 5 +1 more	GConflicting classifications of pathogenicity
Select item 313377	NM_000161.3(GCH1):c.*736A>G	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Dystonia 5 +1 more	GConflicting classifications of pathogenicity
Select item 313378	NM_000161.3(GCH1):c.*732A>G	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Dystonia 5 +2 more	GBenign
Select item 313379	NM_000161.3(GCH1):c.*727A>G	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GConflicting classifications of pathogenicity
Select item 881720	NM_000161.3(GCH1):c.*721A>G	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Dystonia 5 +1 more	GUncertain significance
Select item 313380	NM_000161.3(GCH1):c.*715G>T	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Dystonia 5 +1 more	GUncertain significance
Select item 882874	NM_000161.3(GCH1):c.*695T>A	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Dystonia 5 +1 more	GUncertain significance
Select item 882875	NM_000161.3(GCH1):c.*677G>A	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Dystonia 5 +2 more	GBenign/Likely benign
Select item 882876	NM_000161.3(GCH1):c.*641G>A	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 313381	NM_000161.3(GCH1):c.*617A>G	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Dystonia 5 +1 more	GUncertain significance
Select item 313382	NM_000161.3(GCH1):c.*612C>T	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Dystonia 5 +1 more	GUncertain significance
Select item 313383	NM_000161.3(GCH1):c.*507C>G	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Dystonia 5 +1 more	GUncertain significance
Select item 883663	NM_000161.3(GCH1):c.*441G>A	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 313384	NM_000161.3(GCH1):c.*367G>A	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 313385	NM_000161.3(GCH1):c.*278C>T	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Dystonia 5 +1 more	GUncertain significance
Select item 881323	NM_000161.3(GCH1):c.*256A>G	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GBenign/Likely benign
Select item 881324	NM_000161.3(GCH1):c.*243C>G	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 313386	NM_000161.3(GCH1):c.*243C>T	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 1690957	NM_000161.3(GCH1):c.*197C>T	GCH1 (H226Y)	Single nucleotide variant (3 prime UTR variant +2 more)	See cases	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 881768	NM_000161.3(GCH1):c.*93G>A	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Dystonia 5 +2 more	GConflicting classifications of pathogenicity
Select item 881769	NM_000161.3(GCH1):c.*34C>T	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Dystonia 5 +2 more	GUncertain significance
Select item 313388	NM_000161.3(GCH1):c.*20C>T	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	GTP cyclohydrolase I deficiency +2 more	GConflicting classifications of pathogenicity
Select item 313389	NM_000161.3(GCH1):c.*12T>C	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 459901	NM_000161.3(GCH1):c.753A>C (p.Ter251Cys)	GCH1	Single nucleotide variant (stop lost +1 more)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2943583	NM_000161.3(GCH1):c.752G>A (p.Ter251=)	GCH1	Single nucleotide variant (synonymous variant +1 more)	Dystonia 5 +1 more	GLikely benign
Select item 447377	NM_000161.3(GCH1):c.752G>C (p.Ter251Ser)	GCH1	Single nucleotide variant (stop lost +1 more)	not provided	GPathogenic
Select item 2925514	NM_000161.3(GCH1):c.751T>C (p.Ter251Arg)	GCH1	Single nucleotide variant (stop lost +1 more)	Dystonia 5 +1 more	GPathogenic
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 3364584	NM_000161.3(GCH1):c.748A>G (p.Ser250Gly)	GCH1 (S152G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2928982	NM_000161.3(GCH1):c.747_748delinsCT (p.Arg249_Ser250delinsSerCys)	GCH1	Indel (missense variant +1 more)	Dystonia 5 +1 more	GUncertain significance
Select item 447376	NM_000161.3(GCH1):c.748A>T (p.Ser250Cys)	GCH1 (S250C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 9286	NM_000161.3(GCH1):c.747G>C (p.Arg249Ser)	GCH1 (R249S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 940380	NM_000161.3(GCH1):c.745A>G (p.Arg249Gly)	GCH1 (R249G)	Single nucleotide variant (missense variant +1 more)	GTP cyclohydrolase I deficiency +4 more	GConflicting classifications of pathogenicity
Select item 1392022	NM_000161.3(GCH1):c.737C>T (p.Thr246Ile)	GCH1 (T246I)	Single nucleotide variant (missense variant +1 more)	Dystonia 5 +1 more	GUncertain significance
Select item 1191883	NM_000161.3(GCH1):c.734T>C (p.Leu245Pro)	GCH1 (L245P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1119270	NM_000161.3(GCH1):c.732C>T (p.Phe244=)	GCH1	Single nucleotide variant (synonymous variant +1 more)	Dystonia 5 +1 more	GLikely benign
Select item 1334460	NM_000161.3(GCH1):c.728dup (p.Phe244fs)	GCH1 (F244fs)	Duplication (frameshift variant +1 more)	Dystonia 5	GPathogenic
Select item 1432028	NM_000161.3(GCH1):c.724G>T (p.Glu242Ter)	GCH1 (E242*)	Single nucleotide variant (intron variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 2137588	NM_000161.3(GCH1):c.722G>A (p.Arg241Gln)	GCH1 (R241Q)	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)	Dystonia 5 +1 more	GUncertain significance
Select item 2929043	NM_000161.3(GCH1):c.714A>T (p.Pro238=)	GCH1	Single nucleotide variant (synonymous variant +1 more)	Dystonia 5 +1 more	GLikely benign
Select item 1482272	NM_000161.3(GCH1):c.712C>A (p.Pro238Thr)	GCH1 (P238T)	Single nucleotide variant (missense variant +1 more)	Dystonia 5 +1 more	GUncertain significance
Select item 1465627	NM_000161.3(GCH1):c.709G>A (p.Asp237Asn)	GCH1 (D237N)	Single nucleotide variant (missense variant +1 more)	Dystonia 5 +1 more	GUncertain significance
Select item 2187614	NM_000161.3(GCH1):c.705G>C (p.Arg235=)	GCH1	Single nucleotide variant (synonymous variant +1 more)	Dystonia 5 +1 more	GLikely benign
Select item 522866	NM_000161.3(GCH1):c.704G>A (p.Arg235Gln)	GCH1 (R235Q)	Single nucleotide variant (missense variant +1 more)	Dystonia 5	GUncertain significance
Select item 1407807	NM_000161.3(GCH1):c.695G>A (p.Gly232Asp)	GCH1 (G232D)	Single nucleotide variant (missense variant +1 more)	Dystonia 5 +1 more	GUncertain significance
Select item 2011764	NM_000161.3(GCH1):c.694G>C (p.Gly232Arg)	GCH1 (G232R)	Single nucleotide variant (missense variant +1 more)	GTP cyclohydrolase I deficiency +2 more	GUncertain significance
Select item 1644828	NM_000161.3(GCH1):c.691T>C (p.Leu231=)	GCH1	Single nucleotide variant (synonymous variant +1 more)	Dystonia 5 +1 more	GLikely benign
Select item 1512651	NM_000161.3(GCH1):c.689T>C (p.Met230Thr)	GCH1 (M230T)	Single nucleotide variant (missense variant +1 more)	Dystonia 5 +1 more	GConflicting classifications of pathogenicity
Select item 2948206	NM_000161.3(GCH1):c.687A>G (p.Thr229=)	GCH1	Single nucleotide variant (synonymous variant +1 more)	Dystonia 5 +1 more	GLikely benign
Select item 1285492	NM_000161.3(GCH1):c.677T>A (p.Val226Glu)	GCH1 (V226E)	Single nucleotide variant (missense variant +1 more)	Dystonia 5 +1 more	GUncertain significance
Select item 1367478	NM_000161.3(GCH1):c.676G>C (p.Val226Leu)	GCH1 (V226L)	Single nucleotide variant (missense variant +1 more)	Dystonia 5 +1 more	GUncertain significance
Select item 2129813	NM_000161.3(GCH1):c.675T>A (p.Thr225=)	GCH1	Single nucleotide variant (synonymous variant +1 more)	Dystonia 5 +1 more	GLikely benign
Select item 1486304	NM_000161.3(GCH1):c.673del (p.Thr225fs)	GCH1 (T225fs)	Deletion (frameshift variant +1 more)	Dystonia 5 +1 more	GLikely pathogenic
Select item 3336544	NM_000161.3(GCH1):c.671A>C (p.Lys224Thr)	GCH1 (K126T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 9283	NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)	GCH1 (K224R)	Single nucleotide variant (missense variant +1 more)	Dopa-responsive dystonia +4 more	GConflicting classifications of pathogenicity
Select item 804831	NM_000161.3(GCH1):c.669C>A (p.Ser223Arg)	GCH1 (S223R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2936189	NM_000161.3(GCH1):c.666C>T (p.Asn222=)	GCH1	Single nucleotide variant (synonymous variant +1 more)	Dystonia 5 +1 more	GUncertain significance
Select item 1810004	NM_000161.3(GCH1):c.664A>T (p.Asn222Tyr)	GCH1 (N222Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 9281	NM_000161.3(GCH1):c.662T>C (p.Met221Thr)	GCH1 (M221T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +4 more	GConflicting classifications of pathogenicity
Select item 1718545	NM_000161.3(GCH1):c.661A>G (p.Met221Val)	GCH1 (M221V)	Single nucleotide variant (missense variant +1 more)	Dystonia 5 +1 more	GUncertain significance
Select item 523338	NM_000161.3(GCH1):c.655C>T (p.Gln219Ter)	GCH1 (Q219*)	Single nucleotide variant (nonsense +1 more)	Rigidity +5 more	GLikely pathogenic
Select item 757149	NM_000161.3(GCH1):c.651T>C (p.Gly217=)	GCH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 967583	NM_000161.3(GCH1):c.650G>T (p.Gly217Val)	GCH1 (G217V)	Single nucleotide variant (missense variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance
Select item 1705529	NM_000161.3(GCH1):c.649G>A (p.Gly217Ser)	GCH1 (G217S)	Single nucleotide variant (missense variant +1 more)	Dystonia 5	GUncertain significance
Select item 849521	NM_000161.3(GCH1):c.647G>C (p.Arg216Pro)	GCH1 (R216P)	Single nucleotide variant (missense variant +1 more)	GTP cyclohydrolase I deficiency +1 more	GUncertain significance

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