"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "HSPB1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 465270	NM_001540.5(HSPB1):c.29T>A (p.Leu10His)	HSPB1 (L10H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163280	NM_001540.5(HSPB1):c.128_136dup (p.Ser43_Trp45dup)	HSPB1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 910589	NM_001540.5(HSPB1):c.236G>C (p.Arg79Pro)	HSPB1 (R79P)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2B +2 more	GUncertain significance
Select item 220419	NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)	HSPB1 (G84R)	Single nucleotide variant (missense variant)	Distal hereditary motor neuropathy type 2 +5 more	GPathogenic/Likely pathogenic
Select item 465269	NM_001540.5(HSPB1):c.257C>T (p.Ser86Leu)	HSPB1 (S86L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1446971	NM_001540.5(HSPB1):c.355_357del (p.Glu119del)	HSPB1 (E119del)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GUncertain significance
Select item 7484	NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)	HSPB1 (R140G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GPathogenic
Select item 1693952	NM_001540.5(HSPB1):c.535dup (p.Ile179fs)	HSPB1 (I179fs)	Duplication (frameshift variant)	not provided	GUncertain significance

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