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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL7A1
(G2043R)
Single nucleotide variant
(missense variant)
COL7A1-related condition
+4 more
GPathogenic
COL7A1
(G2034R)
Single nucleotide variant
(missense variant)
COL7A1-related condition
+4 more
GPathogenic
COL7A1
(G1640fs)
Deletion
(frameshift variant)
not provided
GPathogenic
COL7A1
(G1281fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
COL7A1
(N825fs)
Duplication
(frameshift variant)
COL7A1-related condition
+8 more
GPathogenic
COL7A1
(R578*)
Single nucleotide variant
(nonsense)
Nonsyndromic congenital nail disorder 8
+8 more
GPathogenic
COL7A1
(V168fs)
Duplication
(frameshift variant)
Epidermolysis bullosa dystrophica
+2 more
GPathogenic
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