Related gene-specific medical variations for Gene (Select 730) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246449	NC_000005.9:g.(?_40964823)_(40972716_?)dup	C7	Duplication	not provided	GLikely pathogenic
Select item 3246448	NC_000005.9:g.(?_40958115)_(40959742_?)del	C7	Deletion	not provided	GPathogenic
Select item 3246447	NC_000005.9:g.(?_40949986)_(40950136_?)del	C7	Deletion	not provided	GUncertain significance
Select item 12112	C7, 11-BP DEL, NT631	C7	Deletion	Complement component 7 deficiency	GPathogenic
Select item 12107	C7, EX7-8DEL	C7	Deletion	Complement component 7 deficiency	GPathogenic

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