KRT12[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 66116	NM_000223.3(KRT12):c.*360A>C	KRT12	Single nucleotide variant	not provided	Gnot provided
Select item 2919833	NM_000223.4(KRT12):c.1456C>G (p.Gln486Glu)	KRT12 (Q486E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2210557	NM_000223.4(KRT12):c.1436A>G (p.Asn479Ser)	KRT12 (N479S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647749	NM_000223.4(KRT12):c.1424A>G (p.Gln475Arg)	KRT12 (Q475R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3054350	NM_000223.4(KRT12):c.1387+8G>C	KRT12	Single nucleotide variant (intron variant)	KRT12-related disorder	GLikely benign
Select item 2431007	NM_000223.4(KRT12):c.1316G>A (p.Gly439Asp)	KRT12 (G439D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2236798	NM_000223.4(KRT12):c.1309G>A (p.Ala437Thr)	KRT12 (A437T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2716869	NM_000223.4(KRT12):c.1229T>G (p.Val410Gly)	KRT12 (V410G)	Single nucleotide variant (missense variant)	not provided	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 1300203	NM_000223.4(KRT12):c.1148_1159del (p.Gln383_Val387delinsLeu)	KRT12	Deletion (inframe_indel)	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 3116320	NM_000223.4(KRT12):c.1103C>T (p.Ser368Phe)	KRT12 (S368F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220720	NM_000223.4(KRT12):c.1016A>T (p.Gln339Leu)	KRT12 (Q339L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1684850	NM_000223.4(KRT12):c.993_994dup (p.Ser332fs)	KRT12 (S332fs)	Duplication (frameshift variant)	not specified	GUncertain significance
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 3116323	NM_000223.4(KRT12):c.965A>G (p.Glu322Gly)	KRT12 (E322G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603972	NM_000223.4(KRT12):c.916G>A (p.Glu306Lys)	KRT12 (E306K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 723635	NM_000223.4(KRT12):c.902T>C (p.Met301Thr)	KRT12 (M301T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2290991	NM_000223.4(KRT12):c.872G>T (p.Gly291Val)	KRT12 (G291V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341377	NM_000223.4(KRT12):c.767T>C (p.Leu256Pro)	KRT12 (L256P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770641	NM_000223.4(KRT12):c.748G>C (p.Glu250Gln)	KRT12 (E250Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2076233	NM_000223.4(KRT12):c.742G>A (p.Asp248Asn)	KRT12 (D248N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731129	NM_000223.4(KRT12):c.741C>T (p.Thr247=)	KRT12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717637	NM_000223.4(KRT12):c.728C>T (p.Thr243Ile)	KRT12 (T243I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3116322	NM_000223.4(KRT12):c.715C>G (p.Leu239Val)	KRT12 (L239V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116321	NM_000223.4(KRT12):c.682G>A (p.Val228Ile)	KRT12 (V228I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2181118	NM_000223.4(KRT12):c.681C>T (p.Gly227=)	KRT12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731529	NM_000223.4(KRT12):c.664C>T (p.Leu222=)	KRT12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2056565	NM_000223.4(KRT12):c.617A>G (p.Asn206Ser)	KRT12 (N206S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2622876	NM_000223.4(KRT12):c.583A>T (p.Ile195Phe)	KRT12 (I195F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2031333	NM_000223.4(KRT12):c.540T>G (p.Tyr180Ter)	KRT12 (Y180*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 2705369	NM_000223.4(KRT12):c.430C>A (p.Arg144=)	KRT12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2693829	NM_000223.4(KRT12):c.417C>T (p.Tyr139=)	KRT12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 254686	NM_000223.4(KRT12):c.395T>C (p.Leu132Pro)	KRT12 (L132P)	Single nucleotide variant (missense variant)	Corneal dystrophy, Meesmann, 1	GPathogenic
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 1116155	NM_000223.4(KRT12):c.382A>G (p.Thr128Ala)	KRT12 (T128A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1701321	NM_000223.4(KRT12):c.164dup (p.Gly56fs)	KRT12 (G56fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3048993	NM_000223.4(KRT12):c.160G>A (p.Gly54Arg)	KRT12 (G54R)	Single nucleotide variant (missense variant)	KRT12-related disorder	GBenign
Select item 2609354	NM_000223.4(KRT12):c.103G>C (p.Ala35Pro)	KRT12 (A35P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116319	NM_000223.4(KRT12):c.100T>C (p.Ser34Pro)	KRT12 (S34P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647750	NM_000223.4(KRT12):c.60G>C (p.Arg20=)	KRT12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1585972	NM_000223.4(KRT12):c.58C>T (p.Arg20Trp)	KRT12 (R20W)	Single nucleotide variant (missense variant)	not provided	GBenign
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
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 68