"Revvity Omics, Revvity"[submitter] AND "HSPB1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 917325	NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter)	HSPB1 (W51*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2F +2 more	GConflicting classifications of pathogenicity
Select item 560408	NM_001540.5(HSPB1):c.158G>A (p.Gly53Asp)	HSPB1 (G53D)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2B +1 more	GConflicting classifications of pathogenicity
Select item 423339	NM_001540.5(HSPB1):c.180dup (p.Ala61fs)	HSPB1 (A61fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2432541	NM_001540.5(HSPB1):c.275C>A (p.Ala92Glu)	HSPB1 (A92E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 7484	NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)	HSPB1 (R140G)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 637688	NM_001540.5(HSPB1):c.476_477del (p.Pro159fs)	HSPB1 (P159fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2440796	NM_001540.5(HSPB1):c.504dup (p.Met169fs)	HSPB1 (M169fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic

ClinVar