"Epithelial Biology; Institute of Medical Biology, Singapore"[submitte - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66148	NM_000226.4(KRT9):c.1372C>T (p.Leu458Phe)	KRT9 (L458F)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66147	NM_000226.4(KRT9):c.1363_1365dup (p.His455dup)	KRT9	Duplication (inframe_insertion)	not provided	Gnot provided
Select item 66146	NM_000226.4(KRT9):c.1360T>C (p.Tyr454His)	KRT9 (Y454H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66145	NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg)	KRT9 (C406R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2998	NM_000226.4(KRT9):c.515A>C (p.Gln172Pro)	KRT9 (Q172P)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma, 1	GPathogenic
Select item 3007	NM_000226.4(KRT9):c.511G>A (p.Val171Met)	KRT9 (V171M)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma, 1	GPathogenic
Select item 66158	NM_000226.4(KRT9):c.508A>T (p.Lys170Ter)	KRT9 (K170*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 3004	NM_000226.4(KRT9):c.503T>C (p.Leu168Ser)	KRT9 (L168S)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma, 1	GPathogenic
Select item 66157	NM_000226.4(KRT9):c.500delinsGGCT (p.Tyr167delinsTrpLeu)	KRT9	Indel (inframe_indel)	not provided	Gnot provided
Select item 66156	NM_000226.4(KRT9):c.488G>C (p.Arg163Pro)	KRT9 (R163P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3001	NM_000226.4(KRT9):c.488G>A (p.Arg163Gln)	KRT9 (R163Q)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, epidermolytic +2 more	GPathogenic/Likely pathogenic
Select item 2997	NM_000226.4(KRT9):c.487C>T (p.Arg163Trp)	KRT9 (R163W)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma +3 more	GPathogenic/Likely pathogenic
Select item 66155	NM_000226.4(KRT9):c.484T>C (p.Ser162Pro)	KRT9 (S162P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3000	NM_000226.4(KRT9):c.483T>A (p.Asn161Lys)	KRT9 (N161K)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, epidermolytic	GLikely pathogenic
Select item 3009	NM_000226.4(KRT9):c.482A>T (p.Asn161Ile)	KRT9 (N161I)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma, 1	GPathogenic
Select item 3003	NM_000226.4(KRT9):c.482A>G (p.Asn161Ser)	KRT9 (N161S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66154	NM_000226.4(KRT9):c.481A>C (p.Asn161His)	KRT9 (N161H)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2999	NM_000226.4(KRT9):c.481A>T (p.Asn161Tyr)	KRT9 (N161Y)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma, 1	GPathogenic
Select item 3008	NM_000226.4(KRT9):c.478C>T (p.Leu160Phe)	KRT9 (L160F)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma, 1	GPathogenic
Select item 3005	NM_000226.4(KRT9):c.478C>G (p.Leu160Val)	KRT9 (L160V)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma, 1	GPathogenic
Select item 66153	NM_000226.4(KRT9):c.470T>G (p.Met157Arg)	KRT9 (M157R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66152	NM_000226.4(KRT9):c.470T>A (p.Met157Lys)	KRT9 (M157K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3006	NM_000226.4(KRT9):c.470T>C (p.Met157Thr)	KRT9 (M157T)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 3002	NM_000226.4(KRT9):c.469A>G (p.Met157Val)	KRT9 (M157V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66151	NM_000226.4(KRT9):c.429A>C (p.Gly143=)	KRT9	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, epidermolytic +1 more	GBenign
Select item 66150	NM_000226.4(KRT9):c.426A>C (p.Gly142=)	KRT9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 66149	NM_000226.4(KRT9):c.216C>T (p.Ser72=)	KRT9	Single nucleotide variant (synonymous variant)	not provided	Gnot provided

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Items: 27