Variants studied for Dystonia 5; GTP cyclohydrolase I deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
62	13	131	149	9	362

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GCH1	53	13	111	127	5	308
GCH1, LOC130055692	8	0	19	20	3	49
GCH1, LOC130055688	0	0	0	2	1	3
BMP4, CDKN3, CGRRF1, CNIH1, GCH1, GMFB, SAMD4A	1	0	0	0	0	1
GCH1, LOC130055686, LOC130055687, LOC130055688, LOC130055689, LOC130055690, LOC130055691, LOC130055692, MIR4308	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 2

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	62	13	129	149	9	362
Elsea Laboratory, Baylor College of Medicine	0	0	2	0	0	2

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