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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHTKD1
(W21C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Q
GUncertain significance
DHTKD1
(P373L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Q
+2 more
GUncertain significance
DHTKD1
(R715H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2Q
GLikely pathogenic
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