"Athena Diagnostics"[submitter] AND "HSPB3"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 353898	NM_006308.3(HSPB3):c.199G>A (p.Gly67Ser)	HSPB3 (G67S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
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 471414	NM_006308.3(HSPB3):c.347G>A (p.Arg116Gln)	HSPB3 (R116Q)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2C +1 more	GBenign/Likely benign
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

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