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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDZD7
(R933del)
Deletion
(inframe_deletion)
not provided
GConflicting classifications of pathogenicity
PDZD7
(R926C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDZD7
(S217fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
PDZD7
(C128R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PDZD7
(H107Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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