"Revvity Omics, Revvity"[submitter] AND "KRT1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433261	NM_006121.4(KRT1):c.1847G>A (p.Arg616Gln)	KRT1 (R616Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2433264	NM_006121.4(KRT1):c.1816G>A (p.Gly606Ser)	KRT1 (G606S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433263	NM_006121.4(KRT1):c.1666_1687delinsA (p.Gly556_Gly563delinsSer)	KRT1	Indel (inframe_indel)	not provided	GUncertain significance
Select item 2433265	NM_006121.4(KRT1):c.1378C>T (p.Arg460Cys)	KRT1 (R460C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433262	NM_006121.4(KRT1):c.1307C>A (p.Ala436Asp)	KRT1 (A436D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441024	NM_006121.4(KRT1):c.806+1G>A	KRT1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1324634	NM_006121.4(KRT1):c.793_806+1del	KRT1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2416676	NM_006121.4(KRT1):c.78C>T (p.Asn26=)	KRT1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity

ClinVar