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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KANK2
(S848L +1 more)
Single nucleotide variant
(missense variant)
Wooly hair-palmoplantar keratoderma syndrome
+3 more
GUncertain significance
KANK2
Single nucleotide variant
(intron variant)
Nephrotic syndrome 16
+2 more
GBenign/Likely benign
KANK2
(V502M +1 more)
Single nucleotide variant
(missense variant)
Wooly hair-palmoplantar keratoderma syndrome
+2 more
GUncertain significance
KANK2
(P457S)
Single nucleotide variant
(missense variant)
Wooly hair-palmoplantar keratoderma syndrome
+2 more
GUncertain significance
KANK2
(R380C)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
KANK2
Single nucleotide variant
(synonymous variant)
Wooly hair-palmoplantar keratoderma syndrome
+2 more
GBenign/Likely benign
KANK2
(V4I)
Single nucleotide variant
(missense variant)
KANK2-related disorder
+3 more
GLikely benign
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