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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
H4C5, LOC129996027
(R46C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
H4C5
(Y99H)
Single nucleotide variant
(missense variant)
not specified
GLikely pathogenic