Related gene-specific medical variations for Gene (Select 10367) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382200	NM_001195518.2(MICU1):c.156G>A (p.Trp52Ter)	MICU1 (W52*)	Single nucleotide variant (nonsense)	Proximal myopathy with extrapyramidal signs	GLikely pathogenic
Select item 3244973	NC_000010.10:g.(?_74267893)_(74268047_?)del	MICU1	Deletion	not provided	GPathogenic
Select item 3244972	NC_000010.10:g.(?_74326371)_(74326551_?)del	MICU1	Deletion	not provided	GPathogenic
Select item 2690642	NM_001195518.2(MICU1):c.765dup (p.Met256fs)	MICU1 (M256fs +3 more)	Duplication (frameshift variant)	Proximal myopathy with extrapyramidal signs	GLikely pathogenic
Select item 1699954	NM_001195518.2:g.(?_74326370)_(74326571_?)del	MICU1	Deletion	Proximal myopathy with extrapyramidal signs	GPathogenic
Select item 1174137	NG_033179.1:g.(5183_64397)_(64560_68128)_del	MICU1	Deletion	Proximal myopathy with extrapyramidal signs	GPathogenic
Select item 980928	GRCh37/hg19 10q22.1(chr10:74226439-74318714)x1	MICU1	Copy number loss	not provided	GUncertain significance
Select item 916533	MICU1, EX9-10DUP	MICU1	Duplication	Proximal myopathy with extrapyramidal signs	GPathogenic
Select item 815359	GRCh37/hg19 10q22.1(chr10:74133054-74368127)x3	MICU1	Copy number gain	not provided	GUncertain significance
Select item 687373	GRCh37/hg19 10q22.1(chr10:74133380-74367694)x3	MICU1	Copy number gain	not provided	GUncertain significance