"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "RPN1"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 720033	NM_002950.4(RPN1):c.1647C>T (p.Ser549=)	RPN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713300	NM_002950.4(RPN1):c.1394A>G (p.Lys465Arg)	RPN1 (K465R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 774848	NM_002950.4(RPN1):c.633+6C>T	RPN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 709402	NM_002950.4(RPN1):c.576G>A (p.Thr192=)	RPN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	MBD4, MCM2 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 831903	NC_000003.12:g.(?_128480999)_(128912627_?)del	LINC01565, ACAD9 +3 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic

ClinVar