"GeneDx"[submitter] AND "DNAJC30"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58552	GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1	AUTS2, BAZ1B +117 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 976691	NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys)	DNAJC30, LOC129998603 (Y51C)	Single nucleotide variant (missense variant)	Leber optic atrophy, susceptibility to +3 more	GPathogenic/Likely pathogenic
Select item 1254123	NM_032317.3(DNAJC30):c.100G>A (p.Gly34Arg)	DNAJC30, LOC129998603 (G34R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 253635	GRCh37/hg19 7q11.22-11.23(chr7:71968212-74133332)x3	CLDN4, POM121 +28 more	Copy number gain	See cases	GPathogenic
Select item 253539	GRCh37/hg19 7q11.23(chr7:72718252-74133332)x1	LAT2, GTF2IRD1 +25 more	Copy number loss	See cases	GPathogenic
Select item 253423	GRCh37/hg19 7q11.23(chr7:72708237-74339044)x1	VPS37D, CLIP2 +27 more	Copy number loss	See cases	GPathogenic

ClinVar