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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL17A1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
COL17A1
(G803*)
Single nucleotide variant
(nonsense)
Junctional epidermolysis bullosa, non-Herlitz type
+1 more
GPathogenic
MIR936, COL17A1
Indel
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
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