Variants studied for Elevated circulating creatine kinase concentration; Dystonic disorder; Global developmental delay; Abnormal female external genitalia morphology; Oculomotor apraxia; Orofacial dyskinesia; Abnormal globus pallidus morphology; Involuntary movements; Hypoplastic female external genitalia; Rhabdomyolysis

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
0	0	2	0	0	2

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	uncertain significance	total
HERC2	1	1
RYR1	1	1

Submitter and significance breakdown #

Total submitters: 1

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Submitter	uncertain significance	total
Center for Personalized Medicine, Children's Hospital Los Angeles	2	2

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