"GeneDx"[submitter] AND "PKDCC"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 59144	GRCh38/hg38 2p21(chr2:41999414-42915744)x3	OXER1, PKDCC +53 more	Copy number gain	See cases	GPathogenic
Select item 1722583	NM_138370.3(PKDCC):c.290_320del (p.Leu97fs)	PKDCC (L97fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1455668	NM_138370.3(PKDCC):c.492del (p.Leu165fs)	LOC129933566, PKDCC (L165fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1722582	NM_138370.3(PKDCC):c.606dup (p.Leu203fs)	LOC129933566, PKDCC (L203fs)	Duplication (frameshift variant)	not provided	GPathogenic

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