C4552049[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1414941	NM_005557.4(KRT16):c.933+18del	KRT16	Deletion (intron variant)	Palmoplantar keratoderma, nonepidermolytic, focal 1 +2 more	GUncertain significance
Select item 265217	NM_005557.4(KRT16):c.379C>G (p.Arg127Gly)	KRT16 (R127G)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 14601	NM_005557.4(KRT16):c.379C>T (p.Arg127Cys)	KRT16 (R127C)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, nonepidermolytic, focal 1 +3 more	GPathogenic
Select item 14602	NM_005557.4(KRT16):c.374A>G (p.Asn125Ser)	KRT16 (N125S)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, nonepidermolytic, focal 1 +2 more	GPathogenic
Select item 66605	NM_005557.4(KRT16):c.371T>A (p.Leu124His)	KRT16 (L124H)	Single nucleotide variant (missense variant)	Pachyonychia congenita 1 +2 more	GPathogenic/Likely pathogenic
Select item 14608	NM_005557.4(KRT16):c.362T>C (p.Met121Thr)	KRT16 (M121T)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, nonepidermolytic, focal 1 +2 more	GPathogenic/Likely pathogenic
Select item 786318	NM_005557.4(KRT16):c.67G>A (p.Gly23Ser)	KRT16 (G23S)	Single nucleotide variant (missense variant)	Pachyonychia congenita 1 +2 more	GBenign/Likely benign

ClinVar