ClinVar for OMIM (Select 613000) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671710	NM_005557.4(KRT16):c.39del (p.Ser13_Met14insTer)	KRT16	Deletion (frameshift variant)	Palmoplantar keratoderma, nonepidermolytic, focal 1	GLikely pathogenic
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 1300085	NM_005557.4(KRT16):c.1281-16T>C	KRT16	Single nucleotide variant (intron variant)	Pachyonychia congenita 1 +2 more	GBenign
Select item 1264136	NM_005557.4(KRT16):c.624T>C (p.His208=)	KRT16	Single nucleotide variant (synonymous variant)	Pachyonychia congenita 1 +2 more	GBenign
Select item 1029979	NM_005557.4(KRT16):c.1373T>C (p.Ile458Thr)	KRT16 (I458T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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
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 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 14610	NM_005557.4(KRT16):c.1244_1270delinsGGC (p.Ala415_Glu424delinsGlyGln)	KRT16	Indel (inframe_indel)	Palmoplantar keratoderma, nonepidermolytic, focal 1	GPathogenic
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 14602	NM_005557.4(KRT16):c.374A>G (p.Asn125Ser)	KRT16 (N125S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
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