C2608087[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7485	NM_001540.5(HSPB1):c.295C>A (p.Leu99Met)	HSPB1 (L99M)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2B	GPathogenic
Select item 7479	NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp)	HSPB1 (R127W)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2B +3 more	GPathogenic
Select item 7478	NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe)	HSPB1 (S135F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 7480	NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile)	HSPB1 (T151I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GConflicting classifications of pathogenicity
Select item 7483	NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser)	HSPB1 (P182S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2F +1 more	GPathogenic/Likely pathogenic
Select item 7481	NM_001540.5(HSPB1):c.545C>T (p.Pro182Leu)	HSPB1 (P182L)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 2B	GPathogenic

ClinVar