"GeneDx"[submitter] AND "CD63"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 1236949	NM_002905.5(RDH5):c.570-100C>T	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 386307	NM_002905.5(RDH5):c.570-8G>C	RDH5, BLOC1S1-RDH5 +1 more	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 258858	NM_002905.5(RDH5):c.600C>G (p.Val200=)	BLOC1S1-RDH5, CD63 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 8003	NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)	BLOC1S1-RDH5, CD63 +1 more (G238W)	Single nucleotide variant (non-coding transcript variant +1 more)	Pigmentary retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 8009	NM_002905.5(RDH5):c.928delinsGAAG (p.Leu310delinsGluVal)	BLOC1S1-RDH5, CD63 +1 more	Indel (non-coding transcript variant +2 more)	not provided	GPathogenic

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