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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLG-AS1, FLG2
(Q1034fs)
Deletion
(frameshift variant)
Peeling skin syndrome 6
GUncertain significance
FLG-AS1, FLG2
Deletion
(inframe_deletion)
Peeling skin syndrome 6
GBenign
FLG-AS1, FLG2
(Y355*)
Single nucleotide variant
(nonsense)
Peeling skin syndrome 6
GPathogenic
CCDST, FLG2
(S211*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
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