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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GDAP1
(M116R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
GDAP1
(R120W +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2K
+5 more
GPathogenic
GDAP1
(H123R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
GDAP1
(T157P +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 4A
GPathogenic
GDAP1
(Q163* +3 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease recessive intermediate A
+4 more
GPathogenic
GDAP1
(L239F +3 more)
Single nucleotide variant
(missense variant +1 more)
Sensory neuropathy
+11 more
GPathogenic/Likely pathogenic
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