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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SEPTIN9
(R88W +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic
SEPTIN9
(Q99P +3 more)
Indel
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity