ClinVar for MedGen (Select 324475) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339350	NM_000424.4(KRT5):c.1650del (p.Ser551fs)	KRT5 (S551fs)	Deletion (frameshift variant)	Epidermolysis bullosa simplex with migratory circinate erythema	GPathogenic
Select item 1339349	NM_000424.4(KRT5):c.1321_1332del (p.Lys441_Gln444del)	KRT5, LOC126861525	Deletion (inframe_deletion)	Epidermolysis bullosa simplex with migratory circinate erythema	GPathogenic
Select item 1339348	NM_000424.4(KRT5):c.1638_1641del (p.Ser547fs)	KRT5 (S547fs)	Deletion (frameshift variant)	Epidermolysis bullosa simplex with migratory circinate erythema	GPathogenic
Select item 309575	NM_000424.4(KRT5):c.110G>A (p.Arg37Gln)	KRT5 (R37Q)	Single nucleotide variant (missense variant)	not provided +9 more	GBenign/Likely benign
Select item 66277	NM_000424.4(KRT5):c.594C>A (p.Thr198=)	KRT5, LOC126861526	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 1 +10 more	GBenign
Select item 14655	NM_000424.4(KRT5):c.1649del (p.Gly550fs)	KRT5 (G550fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 14641	NM_000424.4(KRT5):c.980T>C (p.Met327Thr)	KRT5 (M327T)	Single nucleotide variant (missense variant)	KRT5-related condition +8 more	GPathogenic/Likely pathogenic

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