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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LORICRIN
(S29G)
Single nucleotide variant
(missense variant)
not provided
GBenign
LORICRIN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LORICRIN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LORICRIN
Duplication
(inframe_insertion)
not provided
GBenign
LORICRIN
(Y225fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
LORICRIN
(S229fs)
Duplication
(frameshift variant)
Loricrin keratoderma
+1 more
GPathogenic
LORICRIN
(S270fs)
Duplication
(frameshift variant)
not provided
GPathogenic
LORICRIN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LORICRIN
Single nucleotide variant
not provided
GBenign
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