Related gene-specific medical variations for Gene (Select 84466) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441377	NM_001256545.2(MEGF10):c.2104+1G>T	MEGF10	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1324715	NM_001256545.2(MEGF10):c.2952G>A (p.Trp984Ter)	MEGF10 (W984*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1324714	NM_001256545.2(MEGF10):c.1131-1G>A	MEGF10	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 814743	GRCh37/hg19 5q23.2(chr5:126582778-126821947)x1	MEGF10	Copy number loss	not provided	GUncertain significance
Select item 805005	NM_001256545.2(MEGF10):c.227A>G (p.Tyr76Cys)	MEGF10 (Y76C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 687095	GRCh37/hg19 5q23.2(chr5:126677566-126828371)x3	MEGF10	Copy number gain	not provided	GUncertain significance
Select item 374554	NM_001256545.2(MEGF10):c.1976-1G>A	MEGF10	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 262062	NM_001256545.2(MEGF10):c.156T>C (p.Phe52=)	MEGF10	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

ClinVar