KRT12[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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)	AARSD1, AATF +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 68