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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRT5
(S551fs)
Deletion
(frameshift variant)
Epidermolysis bullosa simplex with migratory circinate erythema
GPathogenic
KRT5, LOC126861525
Deletion
(inframe_deletion)
Epidermolysis bullosa simplex with migratory circinate erythema
GPathogenic
KRT5
(S547fs)
Deletion
(frameshift variant)
Epidermolysis bullosa simplex with migratory circinate erythema
GPathogenic
KRT5
(R37Q)
Single nucleotide variant
(missense variant)
not provided
+9 more
GBenign/Likely benign
KRT5, LOC126861526
Single nucleotide variant
(synonymous variant)
not provided
+10 more
GBenign
KRT5
(G550fs)
Deletion
(frameshift variant)
Epidermolysis bullosa simplex
+1 more
GPathogenic
KRT5
(M327T)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 1
+7 more
GPathogenic
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