"Invitae"[submitter] AND "KRT14"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 107

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2197030	NM_000526.5(KRT14):c.1406G>A (p.Arg469His)	KRT14 (R469H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1537948	NM_000526.5(KRT14):c.1354G>A (p.Val452Ile)	KRT14 (V452I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3002448	NM_000526.5(KRT14):c.1346G>A (p.Arg449His)	KRT14 (R449H)	Single nucleotide variant (missense variant)	not provided	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 66328	NM_000526.5(KRT14):c.1322-13A>G	KRT14	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1989427	NM_000526.5(KRT14):c.1321+13T>C	KRT14	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1522068	NM_000526.5(KRT14):c.1275-1G>A	KRT14	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1600246	NM_000526.5(KRT14):c.1275-19T>C	KRT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2130374	NM_000526.5(KRT14):c.1274+19C>T	KRT14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636489	NM_000526.5(KRT14):c.1274+12C>T	KRT14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 66325	NM_000526.5(KRT14):c.1250G>C (p.Arg417Pro)	KRT14 (R417P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2967322	NM_000526.5(KRT14):c.1248C>T (p.Arg416=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2830246	NM_000526.5(KRT14):c.1246C>A (p.Arg416Ser)	KRT14 (R416S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 66319	NM_000526.5(KRT14):c.1237G>A (p.Ala413Thr)	KRT14 (A413T)	Single nucleotide variant (missense variant)	KRT14-related condition +7 more	GBenign/Likely benign
Select item 784356	NM_000526.5(KRT14):c.1219C>A (p.Arg407=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711995	NM_000526.5(KRT14):c.1203G>A (p.Leu401=)	KRT14	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 419836	NM_000526.5(KRT14):c.1163G>A (p.Arg388His)	KRT14 (R388H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 66306	NM_000526.5(KRT14):c.1162C>T (p.Arg388Cys)	KRT14 (R388C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 66300	NM_000526.5(KRT14):c.1117_1158dup (p.Ile373_Gln386dup)	KRT14	Duplication (inframe_insertion)	not provided	GLikely pathogenic
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 2989918	NM_000526.5(KRT14):c.1137C>T (p.Ser379=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 66303	NM_000526.5(KRT14):c.1130T>C (p.Ile377Thr)	KRT14 (I377T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2699329	NM_000526.5(KRT14):c.1120_1121insT (p.Gln374fs)	KRT14 (Q374fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2089911	NM_000526.5(KRT14):c.984G>A (p.Lys328=)	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 2097764	NM_000526.5(KRT14):c.928-9T>G	KRT14	Single nucleotide variant (intron 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 929242	NM_000526.5(KRT14):c.907G>A (p.Glu303Lys)	KRT14 (E303K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 741580	NM_000526.5(KRT14):c.906C>T (p.Ala302=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1945963	NM_000526.5(KRT14):c.874G>A (p.Glu292Lys)	KRT14 (E292K)	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 1181276	NM_000526.5(KRT14):c.851T>C (p.Leu284Pro)	KRT14 (L284P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 758113	NM_000526.5(KRT14):c.831C>T (p.Gly277=)	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 1911761	NM_000526.5(KRT14):c.748A>C (p.Lys250Gln)	KRT14 (K250Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 764765	NM_000526.5(KRT14):c.739G>A (p.Ala247Thr)	KRT14 (A247T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 713211	NM_000526.5(KRT14):c.648C>G (p.Ala216=)	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 2039144	NM_000526.5(KRT14):c.627C>T (p.Asn209=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1599914	NM_000526.5(KRT14):c.608+20C>G	KRT14	Single nucleotide variant (intron variant)	not provided	GBenign
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 722105	NM_000526.5(KRT14):c.588C>T (p.Ala196=)	KRT14	Single nucleotide variant (synonymous 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 3010102	NM_000526.5(KRT14):c.546C>T (p.Asp182=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 796903	NM_000526.5(KRT14):c.539C>A (p.Thr180Lys)	KRT14 (T180K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2697454	NM_000526.5(KRT14):c.526-19T>C	KRT14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 736412	NM_000526.5(KRT14):c.506T>C (p.Ile169Thr)	KRT14 (I169T)	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 2973781	NM_000526.5(KRT14):c.474G>T (p.Glu158Asp)	KRT14 (E158D)	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 2904064	NM_000526.5(KRT14):c.463C>T (p.Arg155Trp)	KRT14 (R155W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 751544	NM_000526.5(KRT14):c.427C>T (p.Leu143=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2056942	NM_000526.5(KRT14):c.420C>T (p.Asn140=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 66355	NM_000526.5(KRT14):c.389T>C (p.Leu130Pro)	KRT14 (L130P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66354	NM_000526.5(KRT14):c.386A>G (p.Tyr129Cys)	KRT14 (Y129C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 66352	NM_000526.5(KRT14):c.380CCT[1] (p.Ser128del)	KRT14 (S128del)	Microsatellite (inframe_deletion)	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 66349	NM_000526.5(KRT14):c.374G>T (p.Arg125Leu)	KRT14 (R125L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 14613	NM_000526.5(KRT14):c.374G>A (p.Arg125His)	KRT14 (R125H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 14612	NM_000526.5(KRT14):c.373C>T (p.Arg125Cys)	KRT14 (R125C)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Koebner type +4 more	GPathogenic
Select item 2851007	NM_000526.5(KRT14):c.368_369delinsGC (p.Asn123Ser)	KRT14 (N123S)	Indel (missense variant)	not provided	GPathogenic
Select item 66346	NM_000526.5(KRT14):c.369T>C (p.Asn123=)	KRT14	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 66344	NM_000526.5(KRT14):c.364C>T (p.Leu122Phe)	KRT14 (L122F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 14620	NM_000526.5(KRT14):c.357G>A (p.Met119Ile)	KRT14 (M119I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 14619	NM_000526.5(KRT14):c.356T>C (p.Met119Thr)	KRT14 (M119T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 3015324	NM_000526.5(KRT14):c.324T>A (p.Asp108Glu)	KRT14 (D108E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 66336	NM_000526.5(KRT14):c.280G>A (p.Ala94Thr)	KRT14 (A94T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 752826	NM_000526.5(KRT14):c.252T>C (p.Phe84=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720646	NM_000526.5(KRT14):c.220AGC[7] (p.Ser79_Phe80insSer)	KRT14	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 513114	NM_000526.5(KRT14):c.220AGC[4] (p.Ser78_Ser79del)	KRT14	Microsatellite (inframe_deletion)	not provided +2 more	GLikely benign
Select item 66334	NM_000526.5(KRT14):c.231C>T (p.Ser77=)	KRT14	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
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 256363	NM_000526.5(KRT14):c.202G>A (p.Gly68Ser)	KRT14 (G68S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 66332	NM_000526.5(KRT14):c.193C>T (p.Leu65=)	KRT14	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 1668287	NM_000526.5(KRT14):c.188G>A (p.Cys63Tyr)	KRT14 (C63Y)	Single nucleotide variant (missense variant)	Dermatopathia pigmentosa reticularis +6 more	GBenign
Select item 66330	NM_000526.5(KRT14):c.188= (p.Cys63=)	KRT14	Single nucleotide variant (no sequence alteration)	not provided	GBenign
Select item 2886606	NM_000526.5(KRT14):c.168C>T (p.Arg56=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781859	NM_000526.5(KRT14):c.166C>T (p.Arg56Cys)	KRT14 (R56C)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
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 2037530	NM_000526.5(KRT14):c.134C>T (p.Thr45Ile)	KRT14 (T45I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 725722	NM_000526.5(KRT14):c.126C>T (p.Ala42=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2201214	NM_000526.5(KRT14):c.123C>T (p.Arg41=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2885111	NM_000526.5(KRT14):c.114G>T (p.Gly38=)	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 66385	NM_000526.5(KRT14):c.92del (p.Ile31fs)	KRT14 (I31fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
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 66381	NM_000526.5(KRT14):c.88C>T (p.Arg30Cys)	KRT14 (R30C)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 669378	NM_000526.5(KRT14):c.58ATCGGGGGCGGC[1] (p.20IGGG[1])	KRT14	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 761661	NM_000526.5(KRT14):c.78C>T (p.Gly26=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968198	NM_000526.5(KRT14):c.73G>A (p.Gly25Arg)	KRT14 (G25R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 2