ClinVar for MedGen (Select 1684668) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672273	NM_000223.4(KRT12):c.523G>A (p.Asp175Asn)	KRT12 (D175N)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 1	GBenign
Select item 2628021	NM_000223.4(KRT12):c.1181T>C (p.Leu394Pro)	KRT12 (L394P)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 1	GLikely pathogenic
Select item 2433266	NM_000223.4(KRT12):c.988G>T (p.Glu330Ter)	KRT12 (E330*)	Single nucleotide variant (nonsense)	Corneal dystrophy, Meesmann, 1	GUncertain significance
Select item 1300204	NM_000223.4(KRT12):c.1151T>C (p.Leu384Pro)	KRT12 (L384P)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 1	GUncertain significance
Select item 1300203	NM_000223.4(KRT12):c.1148_1159del (p.Gln383_Val387delinsLeu)	KRT12	Deletion (inframe_indel)	Corneal dystrophy, Meesmann, 1	GUncertain significance
Select item 254686	NM_000223.4(KRT12):c.395T>C (p.Leu132Pro)	KRT12 (L132P)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 1	GPathogenic
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
Select item 7927	NM_000223.4(KRT12):c.386T>C (p.Met129Thr)	KRT12 (M129T)	Single nucleotide variant (missense variant)	not provided	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 7925	NM_000223.4(KRT12):c.1285T>G (p.Tyr429Asp)	KRT12 (Y429D)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 1	GPathogenic
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 7923	NM_000223.4(KRT12):c.403A>G (p.Arg135Gly)	KRT12 (R135G)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 1	GPathogenic
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 7921	NM_000223.4(KRT12):c.404G>C (p.Arg135Thr)	KRT12 (R135T)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 1	GPathogenic