ClinVar for Gene (Select 3861) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357964	NM_000526.5(KRT14):c.1261G>A (p.Gly421Ser)	KRT14 (G421S)	Single nucleotide variant (missense variant)	KRT14-related disorder	GUncertain significance
Select item 3340854	NM_000526.5(KRT14):c.1235T>C (p.Ile412Thr)	KRT14 (I412T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3289342	NM_000526.5(KRT14):c.1191G>C (p.Glu397Asp)	KRT14 (E397D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3116332	NM_000526.5(KRT14):c.80G>C (p.Gly27Ala)	KRT14 (G27A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064710	NM_000526.5(KRT14):c.815T>A (p.Met272Lys)	KRT14 (M272K)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 1A, generalized severe	GLikely pathogenic
Select item 3063506	GRCh37/hg19 17q21.2(chr17:39705863-40358580)x3	ACLY, CNP +25 more	Copy number gain	not specified	GUncertain significance
Select item 3054745	NM_000526.5(KRT14):c.996G>A (p.Ser332=)	KRT14	Single nucleotide variant (synonymous variant)	KRT14-related disorder	GLikely benign
Select item 3049748	NM_000526.5(KRT14):c.537C>A (p.Ala179=)	KRT14	Single nucleotide variant (synonymous variant)	KRT14-related disorder	GLikely benign
Select item 3040338	NM_000526.5(KRT14):c.-1C>T	KRT14	Single nucleotide variant (5 prime UTR variant)	KRT14-related disorder	GLikely benign
Select item 3015324	NM_000526.5(KRT14):c.324T>A (p.Asp108Glu)	KRT14 (D108E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015323	NM_000526.5(KRT14):c.328C>G (p.Leu110Val)	KRT14 (L110V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010102	NM_000526.5(KRT14):c.546C>T (p.Asp182=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002448	NM_000526.5(KRT14):c.1346G>A (p.Arg449His)	KRT14 (R449H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2995724	NM_000526.5(KRT14):c.1336C>T (p.Arg446Cys)	KRT14 (R446C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989918	NM_000526.5(KRT14):c.1137C>T (p.Ser379=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986204	NM_000526.5(KRT14):c.927+17G>C	KRT14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973781	NM_000526.5(KRT14):c.474G>T (p.Glu158Asp)	KRT14 (E158D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968198	NM_000526.5(KRT14):c.73G>A (p.Gly25Arg)	KRT14 (G25R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967322	NM_000526.5(KRT14):c.1248C>T (p.Arg416=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959983	NM_000526.5(KRT14):c.978C>T (p.Ser326=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915773	NM_000526.5(KRT14):c.1249C>T (p.Arg417Cys)	KRT14 (R417C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915508	NM_000526.5(KRT14):c.1246C>T (p.Arg416Cys)	KRT14 (R416C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904064	NM_000526.5(KRT14):c.463C>T (p.Arg155Trp)	KRT14 (R155W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899219	NM_000526.5(KRT14):c.468_470delinsCAG (p.Ala157Ser)	KRT14 (A157S)	Indel (missense variant)	not provided	GUncertain significance
Select item 2899043	NM_000526.5(KRT14):c.601C>T (p.Arg201Cys)	KRT14 (R201C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886606	NM_000526.5(KRT14):c.168C>T (p.Arg56=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885111	NM_000526.5(KRT14):c.114G>T (p.Gly38=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851007	NM_000526.5(KRT14):c.368_369delinsGC (p.Asn123Ser)	KRT14 (N123S)	Indel (missense variant)	not provided	GPathogenic
Select item 2844050	NM_000526.5(KRT14):c.1130T>G (p.Ile377Ser)	KRT14 (I377S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2830246	NM_000526.5(KRT14):c.1246C>A (p.Arg416Ser)	KRT14 (R416S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811999	NM_000526.5(KRT14):c.376C>G (p.Leu126Val)	KRT14 (L126V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2790348	NM_000526.5(KRT14):c.52T>G (p.Cys18Gly)	KRT14 (C18G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2763642	NM_000526.5(KRT14):c.678C>A (p.Asp226Glu)	KRT14 (D226E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2760091	NM_000526.5(KRT14):c.881T>C (p.Met294Thr)	KRT14 (M294T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723207	NM_000526.5(KRT14):c.66C>T (p.Gly22=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2722382	NM_000526.5(KRT14):c.1138G>A (p.Val380Met)	KRT14 (V380M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720646	NM_000526.5(KRT14):c.220AGC[7] (p.Ser79_Phe80insSer)	KRT14	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2715248	NM_000526.5(KRT14):c.17G>A (p.Arg6His)	KRT14 (R6H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699329	NM_000526.5(KRT14):c.1120_1121insT (p.Gln374fs)	KRT14 (Q374fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2697454	NM_000526.5(KRT14):c.526-19T>C	KRT14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2681358	NM_000526.5(KRT14):c.761A>G (p.Glu254Gly)	KRT14 (E254G)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2647772	NM_000526.5(KRT14):c.183A>G (p.Gly61=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634713	NM_000526.5(KRT14):c.856G>C (p.Glu286Gln)	KRT14 (E286Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2633099	NM_000526.5(KRT14):c.182G>A (p.Gly61Glu)	KRT14 (G61E)	Single nucleotide variant (missense variant)	KRT14-related disorder	GUncertain significance
Select item 2627472	NM_000526.5(KRT14):c.614del (p.Glu205fs)	KRT14 (E205fs)	Deletion (frameshift variant)	Epidermolysis bullosa simplex 1A, generalized severe	GLikely pathogenic
Select item 2606749	NM_000526.5(KRT14):c.1398G>C (p.Gln466His)	KRT14 (Q466H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541885	NM_000526.5(KRT14):c.593A>G (p.Asp198Gly)	KRT14 (D198G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2497882	NM_000526.5(KRT14):c.1053+1G>A	KRT14	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2463217	NM_000526.5(KRT14):c.1361A>G (p.Asp454Gly)	KRT14 (D454G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444582	NM_000526.5(KRT14):c.863G>T (p.Arg288Leu)	KRT14 (R288L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2433267	NM_000526.5(KRT14):c.740C>A (p.Ala247Asp)	KRT14 (A247D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2423204	NC_000017.10:g.(?_39738787)_(39739685_?)del	KRT14	Deletion	not provided	GPathogenic
Select item 2381171	NM_000526.5(KRT14):c.1353G>C (p.Lys451Asn)	KRT14 (K451N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352985	NM_000526.5(KRT14):c.139G>A (p.Gly47Arg)	KRT14 (G47R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279838	NM_000526.5(KRT14):c.1304C>T (p.Ser435Leu)	KRT14 (S435L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2259813	NM_000526.5(KRT14):c.679G>A (p.Glu227Lys)	KRT14 (E227K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249397	NM_000526.5(KRT14):c.1336C>A (p.Arg446Ser)	KRT14 (R446S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222076	NM_000526.5(KRT14):c.1199T>G (p.Ile400Ser)	KRT14 (I400S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2201214	NM_000526.5(KRT14):c.123C>T (p.Arg41=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2197030	NM_000526.5(KRT14):c.1406G>A (p.Arg469His)	KRT14 (R469H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2171249	NM_000526.5(KRT14):c.122G>A (p.Arg41His)	KRT14 (R41H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2159539	NM_000526.5(KRT14):c.415G>C (p.Ala139Pro)	KRT14 (A139P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130374	NM_000526.5(KRT14):c.1274+19C>T	KRT14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2097764	NM_000526.5(KRT14):c.928-9T>G	KRT14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2089911	NM_000526.5(KRT14):c.984G>A (p.Lys328=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065713	NM_000526.5(KRT14):c.803T>C (p.Val268Ala)	KRT14 (V268A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2056942	NM_000526.5(KRT14):c.420C>T (p.Asn140=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053524	NM_000526.5(KRT14):c.100G>A (p.Val34Ile)	KRT14 (V34I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2039144	NM_000526.5(KRT14):c.627C>T (p.Asn209=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2037530	NM_000526.5(KRT14):c.134C>T (p.Thr45Ile)	KRT14 (T45I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2036149	NM_000526.5(KRT14):c.484dup (p.Tyr162fs)	KRT14 (Y162fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1989427	NM_000526.5(KRT14):c.1321+13T>C	KRT14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972666	NM_000526.5(KRT14):c.89G>T (p.Arg30Leu)	KRT14 (R30L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945963	NM_000526.5(KRT14):c.874G>A (p.Glu292Lys)	KRT14 (E292K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911761	NM_000526.5(KRT14):c.748A>C (p.Lys250Gln)	KRT14 (K250Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717155	NM_000526.5(KRT14):c.854A>C (p.Asn285Thr)	KRT14 (N285T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694842	NM_000526.5(KRT14):c.1003C>T (p.Arg335Trp)	KRT14 (R335W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1685365	NM_000526.5(KRT14):c.356T>G (p.Met119Arg)	KRT14 (M119R)	Single nucleotide variant (missense variant)	Dermatopathia pigmentosa reticularis	GLikely pathogenic
Select item 1685364	NM_000526.5(KRT14):c.372C>A (p.Asp124Glu)	KRT14 (D124E)	Single nucleotide variant (missense variant)	Dermatopathia pigmentosa reticularis	GLikely pathogenic
Select item 1668287	NM_000526.5(KRT14):c.188G>A (p.Cys63Tyr)	KRT14 (C63Y)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign
Select item 1636489	NM_000526.5(KRT14):c.1274+12C>T	KRT14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600246	NM_000526.5(KRT14):c.1275-19T>C	KRT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1599914	NM_000526.5(KRT14):c.608+20C>G	KRT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1599840	NM_000526.5(KRT14):c.555T>C (p.Asn185=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1590261	NM_000526.5(KRT14):c.645A>G (p.Glu215=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1537948	NM_000526.5(KRT14):c.1354G>A (p.Val452Ile)	KRT14 (V452I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1526072	NM_000526.5(KRT14):c.766G>T (p.Glu256Ter)	KRT14 (E256*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive	GPathogenic
Select item 1522068	NM_000526.5(KRT14):c.1275-1G>A	KRT14	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1499780	NM_000526.5(KRT14):c.163T>C (p.Ser55Pro)	KRT14 (S55P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1442221	NM_000526.5(KRT14):c.211G>A (p.Gly71Ser)	KRT14 (G71S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1436350	NM_000526.5(KRT14):c.424G>A (p.Asp142Asn)	KRT14 (D142N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338973	NM_000526.5(KRT14):c.373C>A (p.Arg125Ser)	KRT14 (R125S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Koebner type	GUncertain significance
Select item 1335271	NM_000526.5(KRT14):c.1321+8C>A	KRT14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1333699	NM_000526.5(KRT14):c.830G>T (p.Gly277Val)	KRT14 (G277V)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 1C, localized	GUncertain significance
Select item 1321191	NM_000526.5(KRT14):c.1242_1259del (p.Tyr415_Glu420del)	KRT14	Deletion (inframe_deletion)	Epidermolysis bullosa simplex 1A, generalized severe	GPathogenic
Select item 1309486	NM_000526.5(KRT14):c.856G>A (p.Glu286Lys)	KRT14 (E286K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271599	NM_000526.5(KRT14):c.1274+29C>G	KRT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221511	NM_000526.5(KRT14):c.1274+28dup	KRT14	Duplication (intron variant)	not provided	GBenign
Select item 1198508	NM_000526.5(KRT14):c.385T>C (p.Tyr129His)	KRT14 (Y129H)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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