ClinVar for MedGen (Select 481835) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299709	NM_001553.3(IGFBP7):c.585+4T>A	IGFBP7	Single nucleotide variant (intron variant)	Familial retinal arterial macroaneurysm	GBenign
Select item 1252043	NM_001553.3(IGFBP7):c.829G>A (p.Gly277Ser)	IGFBP7 (G277S)	Single nucleotide variant (missense variant)	Familial retinal arterial macroaneurysm	GPathogenic
Select item 30280	NM_001553.3(IGFBP7):c.830-1G>A	IGFBP7	Single nucleotide variant (splice acceptor variant)	Familial retinal arterial macroaneurysm	GPathogenic

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