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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLHL7
Single nucleotide variant
(synonymous variant +1 more)
PERCHING syndrome
+2 more
GBenign
KLHL7
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
KLHL7
(S267fs +1 more)
Deletion
(frameshift variant +1 more)
PERCHING syndrome
GLikely pathogenic
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