Total 13 pathogenic variants reported for Proximal myopathy with extrapyramidal signs

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001195518.2(MICU1):c.1072-1G>C	SNV Germline	Chr10:72408038	Pathogenic	Proximal myopathy with extrapyramidal signs Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5550074	rs_754639936	4 SubmittersRCV000087303 RCV001818255
NM_001195518.2(MICU1):c.735+1G>A	SNV Germline	Chr10:72477173	Pathogenic/Likely pathogenic	Proximal myopathy with extrapyramidal signs Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10575625	rs_369915689	10 SubmittersRCV000087304 RCV001573399
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter)	SNV Germline	Chr10:72508260	Conflicting classifications of pathogenicity	Condition: not provided Proximal myopathy with extrapyramidal signs Abnormality of the nervous system	Criteria Provided Conflicting Classifications	CA5550207	rs_777327250	7 SubmittersRCV000254969 RCV000985189 RCV001814130
NM_001195518.2(MICU1):c.386G>C (p.Arg129Pro)	SNV Germline	Chr10:72551286	Pathogenic/Likely pathogenic	Condition: not provided Proximal myopathy with extrapyramidal signs	Criteria Provided Multiple Submitters No Conflicts	CA5550283	rs_375664373	4 SubmittersRCV000340498 RCV001527686
NM_001195518.2(MICU1):c.1042C>T (p.Gln348Ter)	SNV Germline	Chr10:72423263	Pathogenic	Proximal myopathy with extrapyramidal signs	Criteria Provided Single Submitter	CA377171683	rs_1135401814	1 SubmittersRCV000496153
NM_001195518.2(MICU1):c.355C>T (p.Arg119Ter)	SNV Germline	Chr10:72551317	Pathogenic	Condition: not provided Fabry disease Proximal myopathy with extrapyramidal signs	Criteria Provided Multiple Submitters No Conflicts	CA209804361	rs_538329212	3 SubmittersRCV000498673 RCV004525946 RCV004579549
NM_001195518.2(MICU1):c.161+1G>A	SNV Germline	Chr10:72566632	Pathogenic/Likely pathogenic	Condition: not provided Proximal myopathy with extrapyramidal signs	Criteria Provided Multiple Submitters No Conflicts		rs_375502236	4 SubmittersRCV001280701 RCV001527685
NM_001195518.2(MICU1):c.460C>T (p.Arg154Ter)	SNV Germline	Chr10:72551212	Pathogenic/Likely pathogenic	Proximal myopathy with extrapyramidal signs	Criteria Provided Multiple Submitters No Conflicts		rs_1840027040	2 SubmittersRCV001328705
NM_001195518.2(MICU1):c.52C>T (p.Arg18Ter)	SNV Germline	Chr10:72566742	Pathogenic	Proximal myopathy with extrapyramidal signs	No Assertion Criteria Provided		rs_746453954	1 SubmittersRCV001527687
NM_001195518.2(MICU1):c.1A>G (p.Met1Val)	SNV Germline	Chr10:72566793	Conflicting classifications of pathogenicity	Condition: not provided Proximal myopathy with extrapyramidal signs	Criteria Provided Conflicting Classifications		rs_747832014	3 SubmittersRCV002043874 RCV002086728