C3810394[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1300090	NM_173086.5(KRT6C):c.1503C>T (p.Ser501=)	KRT6C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1300091	NM_173086.5(KRT6C):c.1460-10C>A	KRT6C	Single nucleotide variant (intron variant)	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse +1 more	GBenign
Select item 1300092	NM_173086.5(KRT6C):c.1441G>A (p.Val481Ile)	KRT6C (V481I)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse +1 more	GBenign
Select item 1300093	NM_173086.5(KRT6C):c.1314G>A (p.Lys438=)	KRT6C	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse +1 more	GBenign
Select item 768547	NM_173086.5(KRT6C):c.1257A>C (p.Ala419=)	KRT6C	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse +1 more	GBenign/Likely benign
Select item 1300094	NM_173086.5(KRT6C):c.816+13A>G	KRT6C	Single nucleotide variant (intron variant)	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse +1 more	GBenign
Select item 1300095	NM_173086.5(KRT6C):c.755+13T>C	KRT6C	Single nucleotide variant (intron variant)	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse +1 more	GBenign
Select item 1300096	NM_173086.5(KRT6C):c.687C>G (p.Val229=)	KRT6C	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse +1 more	GBenign
Select item 1300097	NM_173086.5(KRT6C):c.545G>A (p.Arg182Gln)	KRT6C (R182Q)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse +1 more	GBenign
Select item 1300098	NM_173086.5(KRT6C):c.428G>A (p.Ser143Asn)	KRT6C (S143N)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse +1 more	GBenign
Select item 1300099	NM_173086.5(KRT6C):c.417C>T (p.Thr139=)	KRT6C	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse +1 more	GBenign
Select item 1300100	NM_173086.5(KRT6C):c.198C>A (p.Gly66=)	KRT6C	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse +1 more	GBenign
Select item 1300101	NM_173086.5(KRT6C):c.183G>A (p.Leu61=)	KRT6C	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse +1 more	GBenign
Select item 1300102	NM_173086.5(KRT6C):c.181C>T (p.Leu61=)	KRT6C	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse +1 more	GBenign
Select item 1300103	NM_173086.5(KRT6C):c.180T>C (p.Ser60=)	KRT6C	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse +1 more	GBenign