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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT86, KRT81
(E413K)
Single nucleotide variant
(missense variant +1 more)
Beaded hair
GPathogenic
KRT81, KRT86
(E402K)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
KRT81, KRT86
Single nucleotide variant
(intron variant)
Beaded hair
+1 more
GBenign
KRT81, KRT86
(R66H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KRT81, KRT86
(N114H)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
KRT86, KRT81
(N114D)
Single nucleotide variant
(missense variant)
Beaded hair
GPathogenic
KRT81, KRT86
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KRT86, KRT81
(A118E)
Single nucleotide variant
(missense variant)
Beaded hair
GPathogenic
KRT81, KRT86
(Q139P)
Single nucleotide variant
(missense variant)
not provided
GBenign
KRT81, KRT86
(E402Q)
Single nucleotide variant
(missense variant)
Beaded hair
GPathogenic
KRT86, KRT81
(E402K)
Single nucleotide variant
(missense variant)
Beaded hair
GPathogenic
KRT81, KRT86
(E413K)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KRT81, KRT86
(E413D)
Single nucleotide variant
(missense variant)
Beaded hair
GPathogenic
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