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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSPB1
(G34R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
HSPB1
(P39L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+4 more
GPathogenic
HSPB1
(E41K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(L58fs)
Insertion
(frameshift variant)
Charcot-Marie-Tooth disease
GPathogenic
HSPB1
(G84R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
+2 more
GPathogenic/Likely pathogenic
HSPB1
(G84R)
Single nucleotide variant
(missense variant)
Distal hereditary motor neuropathy type 2
+5 more
GPathogenic/Likely pathogenic
HSPB1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
GUncertain significance
HSPB1
(E126del)
Microsatellite
(inframe_deletion)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(S135C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
+1 more
GPathogenic/Likely pathogenic
HSPB1
(S135Y)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
+1 more
GPathogenic
HSPB1
(S135F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
+1 more
GPathogenic
HSPB1
(R136L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
+3 more
GPathogenic
HSPB1
(K141Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
GUncertain significance
HSPB1
(P159fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HSPB1
(T164A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
HSPB1
(M169fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease
GPathogenic
HSPB1
(T180I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
HSPB1
(R188W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
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