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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KANK2
(R380C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
KANK2
(V502M +1 more)
Single nucleotide variant
(missense variant)
Wooly hair-palmoplantar keratoderma syndrome
+2 more
GUncertain significance
KANK2
(S848L +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome 16
+3 more
GUncertain significance
KANK2
(P457S)
Single nucleotide variant
(missense variant)
Wooly hair-palmoplantar keratoderma syndrome
+2 more
GUncertain significance
KANK2
Single nucleotide variant
(intron variant)
Nephrotic syndrome 16
+2 more
GBenign/Likely benign
KANK2
(V4I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
KANK2
Single nucleotide variant
(synonymous variant)
Wooly hair-palmoplantar keratoderma syndrome
+2 more
GBenign/Likely benign
KANK2
(S684F +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome 16
GPathogenic
KANK2
(S181G)
Single nucleotide variant
(missense variant)
Nephrotic syndrome 16
GPathogenic
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