"GeneDx"[submitter] AND "LOC129935648"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 1231523	NC_000002.12:g.219279325C>A	DNAJB2, LOC129935648	Single nucleotide variant	not provided	GBenign
Select item 512511	NM_006736.6(DNAJB2):c.-37+10G>C	DNAJB2, LOC129935648	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 382216	NM_006736.6(DNAJB2):c.-37+20T>G	DNAJB2, LOC129935648	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1188674	NM_006736.6(DNAJB2):c.-37+75C>T	DNAJB2, LOC129935648	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680749	NM_006736.6(DNAJB2):c.-36-110G>C	DNAJB2, LOC129935648	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5 +1 more	GBenign

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