3861[geneid] - ClinVar - NCBI

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	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 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 2606749	NM_000526.5(KRT14):c.1398G>C (p.Gln466His)	KRT14 (Q466H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1537948	NM_000526.5(KRT14):c.1354G>A (p.Val452Ile)	KRT14 (V452I)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 2249397	NM_000526.5(KRT14):c.1336C>A (p.Arg446Ser)	KRT14 (R446S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 66328	NM_000526.5(KRT14):c.1322-13A>G	KRT14	Single nucleotide variant (intron variant)	not specified +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 1335271	NM_000526.5(KRT14):c.1321+8C>A	KRT14	Single nucleotide variant (intron variant)	not provided	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 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 1221511	NM_000526.5(KRT14):c.1274+28dup	KRT14	Duplication (intron variant)	not provided	GBenign
Select item 1271599	NM_000526.5(KRT14):c.1274+29C>G	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 1048027	NM_000526.5(KRT14):c.1274+5G>C	KRT14	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 14623	NM_000526.5(KRT14):c.1264G>A (p.Glu422Lys)	KRT14 (E422K)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 1C, localized	GPathogenic
Select item 380715	NM_000526.5(KRT14):c.1263C>T (p.Gly421=)	KRT14	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 1321191	NM_000526.5(KRT14):c.1242_1259del (p.Tyr415_Glu420del)	KRT14	Deletion (inframe_deletion)	Epidermolysis bullosa simplex 1A, generalized severe	GPathogenic
Select item 14622	NM_000526.5(KRT14):c.1256T>A (p.Leu419Gln)	KRT14 (L419Q)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 1A, generalized severe	GPathogenic
Select item 66326	NM_000526.5(KRT14):c.1252C>G (p.Leu418Val)	KRT14 (L418V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 66321	NM_000526.5(KRT14):c.1240_1249del (p.Thr414fs)	KRT14 (T414fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 2967322	NM_000526.5(KRT14):c.1248C>T (p.Arg416=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 66324	NM_000526.5(KRT14):c.1247G>C (p.Arg416Pro)	KRT14 (R416P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 66323	NM_000526.5(KRT14):c.1246del (p.Arg416fs)	KRT14 (R416fs)	Deletion (frameshift variant)	Epidermolysis bullosa simplex 1A, generalized severe	GPathogenic
Select item 66322	NM_000526.5(KRT14):c.1244A>G (p.Tyr415Cys)	KRT14 (Y415C)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 14621	NM_000526.5(KRT14):c.1243T>C (p.Tyr415His)	KRT14 (Y415H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66320	NM_000526.5(KRT14):c.1237G>C (p.Ala413Pro)	KRT14 (A413P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66319	NM_000526.5(KRT14):c.1237G>A (p.Ala413Thr)	KRT14 (A413T)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 3340854	NM_000526.5(KRT14):c.1235T>C (p.Ile412Thr)	KRT14 (I412T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66318	NM_000526.5(KRT14):c.1235T>A (p.Ile412Asn)	KRT14 (I412N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66317	NM_000526.5(KRT14):c.1234A>T (p.Ile412Phe)	KRT14 (I412F)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66316	NM_000526.5(KRT14):c.1231_1233del (p.Glu411del)	KRT14 (E411del)	Deletion (inframe_deletion)	Epidermolysis bullosa simplex	GPathogenic
Select item 66315	NM_000526.5(KRT14):c.1231G>T (p.Glu411Ter)	KRT14 (E411*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex, Koebner type	GPathogenic
Select item 66314	NM_000526.5(KRT14):c.1231G>A (p.Glu411Lys)	KRT14 (E411K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66313	NM_000526.5(KRT14):c.1228C>T (p.Gln410Ter)	KRT14 (Q410*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1048026	NM_000526.5(KRT14):c.1223T>A (p.Leu408Gln)	KRT14 (L408Q)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 66312	NM_000526.5(KRT14):c.1222C>A (p.Leu408Met)	KRT14 (L408M)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 452364	NM_000526.5(KRT14):c.1220G>A (p.Arg407Gln)	KRT14 (R407Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 784356	NM_000526.5(KRT14):c.1219C>A (p.Arg407=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 66311	NM_000526.5(KRT14):c.1218del (p.Arg407fs)	KRT14 (R407fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 1048025	NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg)	KRT14 (L402R)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 711995	NM_000526.5(KRT14):c.1203G>A (p.Leu401=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 66310	NM_000526.5(KRT14):c.1202T>C (p.Leu401Pro)	KRT14 (L401P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 503671	NM_000526.5(KRT14):c.1194del (p.Glu397_Tyr398insTer)	KRT14	Deletion (nonsense)	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 66309	NM_000526.5(KRT14):c.1186C>T (p.Gln396Ter)	KRT14 (Q396*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 1A, generalized severe +2 more	GConflicting classifications of pathogenicity
Select item 66308	NM_000526.5(KRT14):c.1174G>T (p.Glu392Ter)	KRT14 (E392*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 817171	NM_000526.5(KRT14):c.1161_1165del (p.Cys389fs)	KRT14 (C389fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 66307	NM_000526.5(KRT14):c.1163G>C (p.Arg388Pro)	KRT14 (R388P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66306	NM_000526.5(KRT14):c.1162C>T (p.Arg388Cys)	KRT14 (R388C)	Single nucleotide variant (missense variant)	Palmoplantar blistering +2 more	GPathogenic
Select item 66305	NM_000526.5(KRT14):c.1162C>G (p.Arg388Gly)	KRT14 (R388G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 66300	NM_000526.5(KRT14):c.1117_1158dup (p.Ile373_Gln386dup)	KRT14	Duplication (inframe_insertion)	not provided	GLikely pathogenic
Select item 14611	NM_000526.5(KRT14):c.1151T>C (p.Leu384Pro)	KRT14 (L384P)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Koebner type +1 more	GPathogenic/Likely pathogenic
Select item 1048024	NM_000526.5(KRT14):c.1144G>T (p.Glu382Ter)	KRT14 (E382*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex	GPathogenic
Select item 66304	NM_000526.5(KRT14):c.1141G>A (p.Glu381Lys)	KRT14 (E381K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 66302	NM_000526.5(KRT14):c.1130T>A (p.Ile377Asn)	KRT14 (I377N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66301	NM_000526.5(KRT14):c.1123_1125del (p.Glu375del)	KRT14 (E375del)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 2699329	NM_000526.5(KRT14):c.1120_1121insT (p.Gln374fs)	KRT14 (Q374fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 450450	NM_000526.5(KRT14):c.1109T>C (p.Leu370Pro)	KRT14 (L370P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2497882	NM_000526.5(KRT14):c.1053+1G>A	KRT14	Single nucleotide variant (splice donor 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 3054745	NM_000526.5(KRT14):c.996G>A (p.Ser332=)	KRT14	Single nucleotide variant (synonymous variant)	KRT14-related disorder	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 2959983	NM_000526.5(KRT14):c.978C>T (p.Ser326=)	KRT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 66386	NM_000526.5(KRT14):c.955A>C (p.Thr319Pro)	KRT14 (T319P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 66384	NM_000526.5(KRT14):c.927+1G>T	KRT14	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 66383	NM_000526.5(KRT14):c.927+1G>A	KRT14	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 66382	NM_000526.5(KRT14):c.915G>A (p.Trp305Ter)	KRT14 (W305*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 1A, generalized severe +1 more	GPathogenic
Select item 929242	NM_000526.5(KRT14):c.907G>A (p.Glu303Lys)	KRT14 (E303K)	Single nucleotide variant (missense variant)	not provided +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 2444582	NM_000526.5(KRT14):c.863G>T (p.Arg288Leu)	KRT14 (R288L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2634713	NM_000526.5(KRT14):c.856G>C (p.Glu286Gln)	KRT14 (E286Q)	Single nucleotide variant (missense variant)	KRT14-related disorder +1 more	GUncertain significance
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 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 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 66380	NM_000526.5(KRT14):c.821C>A (p.Ala274Asp)	KRT14 (A274D)	Single nucleotide variant (missense variant)	not provided	Gnot provided

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