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

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66116	NM_000223.3(KRT12):c.*360A>C	KRT12	Single nucleotide variant	not provided	Gnot provided
Select item 66121	NM_000223.4(KRT12):c.1298T>G (p.Leu433Arg)	KRT12 (L433R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66120	NM_000223.4(KRT12):c.1289G>C (p.Arg430Pro)	KRT12 (R430P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66119	NM_000223.4(KRT12):c.1286A>G (p.Tyr429Cys)	KRT12 (Y429C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 7925	NM_000223.4(KRT12):c.1285T>G (p.Tyr429Asp)	KRT12 (Y429D)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 1	GPathogenic
Select item 66118	NM_000223.4(KRT12):c.1277T>G (p.Ile426Ser)	KRT12 (I426S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66117	NM_000223.4(KRT12):c.1276A>G (p.Ile426Val)	KRT12 (I426V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66127	NM_000223.4(KRT12):c.427G>T (p.Val143Leu)	KRT12 (V143L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 7922	NM_000223.4(KRT12):c.427G>C (p.Val143Leu)	KRT12 (V143L)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 1	GPathogenic
Select item 7926	NM_000223.4(KRT12):c.419T>G (p.Leu140Arg)	KRT12 (L140R)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 1	GPathogenic
Select item 66126	NM_000223.4(KRT12):c.409G>C (p.Ala137Pro)	KRT12 (A137P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66125	NM_000223.4(KRT12):c.405A>C (p.Arg135Ser)	KRT12 (R135S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 7924	NM_000223.4(KRT12):c.404G>T (p.Arg135Ile)	KRT12 (R135I)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 1	GPathogenic
Select item 7921	NM_000223.4(KRT12):c.404G>C (p.Arg135Thr)	KRT12 (R135T)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 1	GPathogenic
Select item 7923	NM_000223.4(KRT12):c.403A>G (p.Arg135Gly)	KRT12 (R135G)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 1	GPathogenic
Select item 66124	NM_000223.4(KRT12):c.399T>G (p.Asn133Lys)	KRT12 (N133K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 66123	NM_000223.4(KRT12):c.389A>C (p.Gln130Pro)	KRT12 (Q130P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 7927	NM_000223.4(KRT12):c.386T>C (p.Met129Thr)	KRT12 (M129T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66122	NM_000223.4(KRT12):c.385A>G (p.Met129Val)	KRT12 (M129V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 66129	NM_000223.4(KRT12):c.55C>T (p.Arg19Trp)	KRT12 (R19W)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66128	NM_000223.4(KRT12):c.43C>T (p.Pro15Ser)	KRT12 (P15S)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 1 +1 more	GBenign

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Items: 21