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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+6 more
GBenign/Likely benign
HSPB1
(V6I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HSPB1
(P7A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPB1
(P7L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
HSPB1
(R27P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+4 more
GConflicting classifications of pathogenicity
HSPB1
(P39L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+5 more
GPathogenic
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
+1 more
GConflicting classifications of pathogenicity
HSPB1
(G48S)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, type 2B
+2 more
GUncertain significance
HSPB1
(S50I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
HSPB1
(P60S)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
HSPB1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
HSPB1
(S83N)
Indel
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
+1 more
GUncertain significance
HSPB1
(G84R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
HSPB1
(G84R)
Single nucleotide variant
(missense variant)
Distal hereditary motor neuropathy type 2
+4 more
GPathogenic/Likely pathogenic
HSPB1
(N102I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
+3 more
GUncertain significance
HSPB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
HSPB1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
HSPB1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
HSPB1
(H124Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
HSPB1
(R127W)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, type 2B
+3 more
GPathogenic
HSPB1
(G132S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPB1
(S135F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
HSPB1
(R136L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+3 more
GPathogenic
HSPB1
(T139M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HSPB1
(R140G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+4 more
GPathogenic
HSPB1
(G147fs)
Duplication
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HSPB1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
HSPB1
(S154A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2F
+1 more
GUncertain significance
HSPB1
(E166Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPB1
(Q175*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
HSPB1
(N177Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPB1
(T180I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
HSPB1
(S187L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HSPB1
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2F
+4 more
GBenign/Likely benign
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