ClinVar for MedGen (Select 140934) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 309575	NM_000424.4(KRT5):c.110G>A (p.Arg37Gln)	KRT5 (R37Q)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +9 more	GBenign/Likely benign
Select item 66277	NM_000424.4(KRT5):c.594C>A (p.Thr198=)	KRT5, LOC126861526	Single nucleotide variant (synonymous variant)	not specified +10 more	GBenign
Select item 66253	NM_000424.4(KRT5):c.527A>G (p.Asn176Ser)	KRT5 (N176S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 14655	NM_000424.4(KRT5):c.1649del (p.Gly550fs)	KRT5 (G550fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 14648	NM_000424.4(KRT5):c.74C>T (p.Pro25Leu)	KRT5 (P25L)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +2 more	GPathogenic
Select item 14641	NM_000424.4(KRT5):c.980T>C (p.Met327Thr)	KRT5 (M327T)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 1C, localized +7 more	GPathogenic

ClinVar