ClinVar for MedGen (Select 816615) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2074118	NM_001195518.2(MICU1):c.88C>T (p.Arg30Trp)	MICU1 (R30W)	Single nucleotide variant (missense variant)	Proximal myopathy with extrapyramidal signs +2 more	GUncertain significance
Select item 1709115	NM_001195518.2(MICU1):c.538-20G>A	MICU1	Single nucleotide variant (intron variant)	Proximal myopathy with extrapyramidal signs	GUncertain significance
Select item 1699954	NM_001195518.2:g.(?_74326370)_(74326571_?)del	MICU1	Deletion	Proximal myopathy with extrapyramidal signs	GPathogenic
Select item 1520093	NM_001195518.2(MICU1):c.1A>G (p.Met1Val)	MICU1 (M1V)	Single nucleotide variant (missense variant +1 more)	Proximal myopathy with extrapyramidal signs +1 more	GConflicting classifications of pathogenicity
Select item 1174137	NG_033179.1:g.(5183_64397)_(64560_68128)_del	MICU1	Deletion	Proximal myopathy with extrapyramidal signs	GPathogenic
Select item 1174136	NM_001195518.2(MICU1):c.52C>T (p.Arg18Ter)	MICU1	Single nucleotide variant (nonsense)	Proximal myopathy with extrapyramidal signs	GPathogenic
Select item 1033066	NM_001195518.2(MICU1):c.310del (p.Ser104fs)	MICU1 (S104fs)	Deletion (frameshift variant)	Proximal myopathy with extrapyramidal signs	GPathogenic
Select item 1027817	NM_001195518.2(MICU1):c.460C>T (p.Arg154Ter)	MICU1 (R154*)	Single nucleotide variant (nonsense)	Proximal myopathy with extrapyramidal signs	GPathogenic/Likely pathogenic
Select item 992285	NM_001195518.2(MICU1):c.161+1G>A	MICU1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 916533	MICU1, EX9-10DUP	MICU1	Duplication	Proximal myopathy with extrapyramidal signs	GPathogenic
Select item 559182	NM_001195518.2(MICU1):c.538-4A>G	MICU1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 431921	NM_001195518.2(MICU1):c.355C>T (p.Arg119Ter)	MICU1 (R119*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 431146	NM_001195518.2(MICU1):c.40del (p.Ala14fs)	MICU1 (A14fs)	Deletion (frameshift variant)	Neurodevelopmental disorder +3 more	GPathogenic/Likely pathogenic
Select item 431145	NM_001195518.2(MICU1):c.1042C>T (p.Gln348Ter)	MICU1 (Q350* +3 more)	Single nucleotide variant (nonsense)	Proximal myopathy with extrapyramidal signs	GPathogenic
Select item 279993	NM_001195518.2(MICU1):c.386G>C (p.Arg129Pro)	MICU1 (R129P)	Single nucleotide variant (missense variant)	Proximal myopathy with extrapyramidal signs +1 more	GPathogenic/Likely pathogenic
Select item 265243	NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter)	MICU1 (Q185* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 101046	NM_001195518.2(MICU1):c.735+1G>A	MICU1	Single nucleotide variant (splice donor variant)	Proximal myopathy with extrapyramidal signs +1 more	GPathogenic/Likely pathogenic
Select item 101045	NM_001195518.2(MICU1):c.1072-1G>C	MICU1	Single nucleotide variant (splice acceptor variant)	Proximal myopathy with extrapyramidal signs +1 more	GPathogenic