"GeneDx"[submitter] AND "DNAJC3"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57678	GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1	ABCC4, CLDN10 +168 more	Copy number loss	See cases	GPathogenic
Select item 429787	NM_006260.5(DNAJC3):c.1177C>T (p.Arg393Ter)	DNAJC3 (R393*)	Single nucleotide variant (nonsense)	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1693486	NM_006260.5(DNAJC3):c.1367_1370del (p.Lys456fs)	DNAJC3 (K456fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 253491	GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1	ABCC4, ABHD13 +94 more	Copy number loss	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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