"Revvity Omics, Revvity"[submitter] AND "MEGF10"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 855665	NM_001256545.2(MEGF10):c.209C>T (p.Thr70Met)	MEGF10 (T70M)	Single nucleotide variant (missense variant)	MEGF10-related myopathy +1 more	GUncertain significance
Select item 539958	NM_001256545.2(MEGF10):c.581G>A (p.Arg194Lys)	MEGF10 (R194K)	Single nucleotide variant (missense variant)	MEGF10-related myopathy +1 more	GUncertain significance
Select item 350640	NM_001256545.2(MEGF10):c.631C>T (p.Arg211Cys)	MEGF10 (R211C)	Single nucleotide variant (missense variant)	MEGF10-related myopathy +1 more	GUncertain significance
Select item 1324714	NM_001256545.2(MEGF10):c.1131-1G>A	MEGF10	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2208762	NM_001256545.2(MEGF10):c.1508A>G (p.Asn503Ser)	MEGF10 (N503S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 653244	NM_001256545.2(MEGF10):c.1801G>A (p.Glu601Lys)	MEGF10 (E601K)	Single nucleotide variant (missense variant)	MEGF10-related myopathy +2 more	GUncertain significance
Select item 2441377	NM_001256545.2(MEGF10):c.2104+1G>T	MEGF10	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 30965	NM_001256545.2(MEGF10):c.2320T>C (p.Cys774Arg)	MEGF10 (C774R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 948426	NM_001256545.2(MEGF10):c.2795C>T (p.Thr932Met)	MEGF10 (T932M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1324715	NM_001256545.2(MEGF10):c.2952G>A (p.Trp984Ter)	MEGF10 (W984*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic