"Biomedical Innovation Departament, CIEMAT"[submitter] AND "LOC1268615 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21174	NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys)	KRT5, LOC126861525 (E477K)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1047992	NM_000424.4(KRT5):c.1406C>G (p.Thr469Ser)	KRT5, LOC126861525 (T469S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 66208	NM_000424.4(KRT5):c.1398G>C (p.Glu466Asp)	KRT5, LOC126861525 (E466D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1047991	NM_000424.4(KRT5):c.1396G>C (p.Glu466Gln)	KRT5, LOC126861525 (E466Q)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 14639	NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro)	KRT5, LOC126861525 (L463P)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +1 more	GPathogenic
Select item 66203	NM_000424.4(KRT5):c.1283C>T (p.Ala428Val)	KRT5, LOC126861525 (A428V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 66202	NM_000424.4(KRT5):c.1282G>A (p.Ala428Thr)	KRT5, LOC126861525 (A428T)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic

ClinVar