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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001334, PLEC
Insertion
(intron variant)
Epidermolysis bullosa simplex, Ogna type
+5 more
GConflicting classifications of pathogenicity
LOC130001334, PLEC
Indel
(intron variant)
not provided
GConflicting classifications of pathogenicity
LOC130001334, PLEC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LOC130001334, PLEC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LOC130001334, PLEC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LOC130001334, PLEC
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex, Ogna type
+5 more
GConflicting classifications of pathogenicity
LOC130001334, PLEC
Insertion
(intron variant)
not provided
GUncertain significance
LOC130001334, PLEC
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex, Ogna type
+5 more
GConflicting classifications of pathogenicity
PLEC, LOC130001334
(S399L +6 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
LOC130001334, PLEC
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GConflicting classifications of pathogenicity
LOC130001334, PLEC
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
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