"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PKP3"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 784519	NM_007183.4(PKP3):c.364C>T (p.Arg122Cys)	PKP3 (R122C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 742567	NM_007183.4(PKP3):c.477C>T (p.Thr159=)	PKP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778476	NM_007183.4(PKP3):c.889G>T (p.Val297Leu)	PKP3 (V297L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777195	NM_007183.4(PKP3):c.1371G>A (p.Ser457=)	PKP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715485	NM_007183.4(PKP3):c.2055C>T (p.Asn685=)	PKP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1017523	NC_000011.9:g.(?_298501)_(4113028_?)dup	DEAF1, MIR210 +89 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance

ClinVar