"OMIM"[submitter] AND "KRT2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9309	NM_000423.3(KRT2):c.1461G>T (p.Glu487Asp)	KRT2 (E487D)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GPathogenic
Select item 9310	NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys)	KRT2 (E487K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 9312	NM_000423.3(KRT2):c.1435A>C (p.Thr479Pro)	KRT2 (T479P)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GPathogenic
Select item 9314	NM_000423.3(KRT2):c.1426G>A (p.Glu476Lys)	KRT2 (E476K)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GPathogenic
Select item 9316	NM_000423.3(KRT2):c.558C>A (p.Asn186Lys)	KRT2 (N186K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 9315	NM_000423.3(KRT2):c.556A>G (p.Asn186Asp)	KRT2 (N186D)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GPathogenic
Select item 9313	NM_000423.3(KRT2):c.556A>T (p.Asn186Tyr)	KRT2 (N186Y)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GPathogenic
Select item 9311	NM_000423.3(KRT2):c.542A>C (p.Gln181Pro)	KRT2 (Q181P)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GPathogenic

ClinVar