"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PGGHG"[ - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 37143	NM_001025295.3(IFITM5):c.-14C>T	IFITM5, PGGHG	Single nucleotide variant (5 prime UTR variant)	Osteogenesis imperfecta type 5 +3 more	GPathogenic
Select item 3244777	NC_000011.9:g.(?_216698)_(679836_?)del	ANO9, B4GALNT4 +25 more	Deletion	not provided	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 1421885	NC_000011.9:g.(?_216698)_(720766_?)dup	ANO9, B4GALNT4 +27 more	Duplication	Immunodeficiency 39	GUncertain significance
Select item 1410009	NC_000011.9:g.(?_216698)_(299504_?)dup	PSMD13, IFITM5 +3 more	Duplication	not provided	GUncertain significance

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