"Genome-Nilou Lab"[submitter] AND "ACTN2"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 671982	NM_001103.4(ACTN2):c.241+131C>T	ACTN2	Single nucleotide variant (intron variant)	Myopathy, congenital, with structured cores and z-line abnormalities +1 more	GBenign
Select item 671983	NM_001103.4(ACTN2):c.242-84G>A	ACTN2	Single nucleotide variant (intron variant)	Myopathy, congenital, with structured cores and z-line abnormalities +1 more	GBenign
Select item 43937	NM_001103.4(ACTN2):c.351T>C (p.Ile117=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign
Select item 43938	NM_001103.4(ACTN2):c.378C>T (p.Asn126=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +5 more	GBenign
Select item 671985	NM_001103.4(ACTN2):c.448+73G>A	ACTN2	Single nucleotide variant (intron variant)	Myopathy, congenital, with structured cores and z-line abnormalities +1 more	GBenign
Select item 671060	NM_001103.4(ACTN2):c.697+33G>A	ACTN2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 671061	NM_001103.4(ACTN2):c.877-42C>T	ACTN2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 43950	NM_001103.4(ACTN2):c.877-8C>G	ACTN2	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 671062	NM_001103.4(ACTN2):c.1107+33A>C	ACTN2	Single nucleotide variant (intron variant)	Myopathy, congenital, with structured cores and z-line abnormalities +1 more	GBenign
Select item 671063	NM_001103.4(ACTN2):c.2526+33A>G	ACTN2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign