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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTA1
Single nucleotide variant
(splice donor variant)
SPTA1-related disorders
+1 more
GLikely pathogenic
SPTA1
(R28C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic