ClinVar for MedGen (Select 762102) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2443932	NM_001256545.2(MEGF10):c.2096G>C (p.Cys699Ser)	MEGF10 (C699S)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GLikely pathogenic
Select item 2443931	NM_001256545.2(MEGF10):c.1426+1G>T	MEGF10	Single nucleotide variant (splice donor variant)	Congenital myopathy 10b, mild variant	GPathogenic
Select item 2443930	NM_001256545.2(MEGF10):c.352T>C (p.Cys118Arg)	MEGF10	Single nucleotide variant (missense variant)	Congenital myopathy 10b, mild variant	GPathogenic
Select item 2443929	NM_001256545.2(MEGF10):c.2429G>A (p.Cys810Tyr)	MEGF10	Single nucleotide variant (missense variant)	Congenital myopathy 10b, mild variant	GPathogenic
Select item 2443926	NM_001256545.2(MEGF10):c.2981-2A>G	MEGF10	Single nucleotide variant (splice acceptor variant)	Congenital myopathy 10b, mild variant	GPathogenic
Select item 577106	NM_001256545.2(MEGF10):c.319C>T (p.Pro107Ser)	MEGF10 (P107S)	Single nucleotide variant (missense variant)	Congenital myopathy 10b, mild variant +1 more	GConflicting classifications of pathogenicity
Select item 30967	NM_001256545.2(MEGF10):c.211C>T (p.Arg71Trp)	MEGF10 (R71W)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GUncertain significance
Select item 30966	NM_001256545.2(MEGF10):c.976T>C (p.Cys326Arg)	MEGF10 (C326R)	Single nucleotide variant (missense variant)	MEGF10-related myopathy	GPathogenic
Select item 30965	NM_001256545.2(MEGF10):c.2320T>C (p.Cys774Arg)	MEGF10 (C774R)	Single nucleotide variant (missense variant)	MEGF10-related myopathy +1 more	GPathogenic/Likely pathogenic