"GeneDx"[submitter] AND "HSPB3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 1280164	NC_000005.10:g.54455256A>G	HSPB3	Single nucleotide variant	not provided	GBenign
Select item 1236658	NC_000005.10:g.54455412C>T	HSPB3	Single nucleotide variant	not provided	GBenign
Select item 1242746	NC_000005.10:g.54455434A>G	HSPB3	Single nucleotide variant	not provided	GBenign
Select item 1293443	NC_000005.10:g.54455555dup	HSPB3	Duplication	not provided	GBenign
Select item 488693	NM_006308.3(HSPB3):c.1A>G (p.Met1Val)	HSPB3 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 353899	NM_006308.3(HSPB3):c.282G>A (p.Leu94=)	HSPB3	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2C +1 more	GBenign
Select item 353903	NM_006308.3(HSPB3):c.369T>C (p.Gly123=)	HSPB3	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, type 2C +1 more	GBenign

ClinVar