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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL7A1
(R682Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DSP
(A566T)
Single nucleotide variant
(missense variant)
not specified
+11 more
GConflicting classifications of pathogenicity
DSP
(R1915H +2 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
KRT14
(R388C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
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