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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IGHMBP2
(R43*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GConflicting classifications of pathogenicity
IGHMBP2
(K328fs)
Microsatellite
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2S
+3 more
GPathogenic/Likely pathogenic