"Invitae"[submitter] AND "GFUS"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2792294	NM_003313.4(GFUS):c.-12+43C>T	GFUS (L2F)	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1454990	NC_000008.10:g.(?_144295143)_(145701139_?)del	TOP1MT, ZFTRAF1 +52 more	Deletion	Epidermolysis bullosa simplex 5B, with muscular dystrophy +5 more	GPathogenic
Select item 1411704	NC_000008.10:g.(?_143822561)_(145743168_?)dup	ADCK5, BOP1 +66 more	Duplication	Holoprosencephaly sequence	GUncertain significance

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