KRT9[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 185

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 891687	NM_000226.4(KRT9):c.*318C>T	KRT9	Single nucleotide variant (3 prime UTR variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 323109	NM_000226.4(KRT9):c.*309del	KRT9	Deletion (3 prime UTR variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 891688	NM_000226.4(KRT9):c.*275A>C	KRT9	Single nucleotide variant (3 prime UTR variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 891689	NM_000226.4(KRT9):c.*263T>C	KRT9	Single nucleotide variant (3 prime UTR variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 323110	NM_000226.4(KRT9):c.*230T>C	KRT9	Single nucleotide variant (3 prime UTR variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 891690	NM_000226.4(KRT9):c.*225T>C	KRT9	Single nucleotide variant (3 prime UTR variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 323111	NM_000226.4(KRT9):c.*181G>A	KRT9	Single nucleotide variant (3 prime UTR variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 891691	NM_000226.4(KRT9):c.*123T>C	KRT9	Single nucleotide variant (3 prime UTR variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 323112	NM_000226.4(KRT9):c.*103C>G	KRT9	Single nucleotide variant (3 prime UTR variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 889265	NM_000226.4(KRT9):c.*93C>T	KRT9	Single nucleotide variant (3 prime UTR variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 889266	NM_000226.4(KRT9):c.*41-8C>T	KRT9	Single nucleotide variant (intron variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 1232956	NM_000226.4(KRT9):c.*40+47dup	KRT9	Duplication (intron variant)	not provided	GBenign
Select item 1286922	NM_000226.4(KRT9):c.*40+59del	KRT9	Deletion (intron variant)	not provided	GBenign
Select item 1252974	NM_000226.4(KRT9):c.*40+34T>C	KRT9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 631770	NM_000226.4(KRT9):c.*40+2del	KRT9	Deletion (splice donor variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 889267	NM_000226.4(KRT9):c.1869C>T (p.Ser623=)	KRT9	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 323113	NM_000226.4(KRT9):c.1839C>T (p.Tyr613=)	KRT9	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 3116797	NM_000226.4(KRT9):c.1807G>A (p.Gly603Ser)	KRT9 (G603S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 323114	NM_000226.4(KRT9):c.1800C>T (p.Tyr600=)	KRT9	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, epidermolytic +1 more	GBenign/Likely benign
Select item 889268	NM_000226.4(KRT9):c.1797C>T (p.Ser599=)	KRT9	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 1050022	NM_000226.4(KRT9):c.1648_1714del (p.His550fs)	KRT9 (H550fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1622183	NM_000226.4(KRT9):c.1509_1706del (p.Tyr520_Ser585del)	KRT9	Deletion (inframe_deletion)	not provided	GBenign
Select item 2955294	NM_000226.4(KRT9):c.1679G>A (p.Gly560Glu)	KRT9 (G560E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 915270	NM_000226.4(KRT9):c.1674T>G (p.Tyr558Ter)	KRT9 (Y558*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3034210	NM_000226.4(KRT9):c.1668C>A (p.Gly556=)	KRT9	Single nucleotide variant (synonymous variant)	KRT9-related disorder	GLikely benign
Select item 2045572	NM_000226.4(KRT9):c.1641_1664dup (p.Gly556_Asn557insGlyHisSerGlyGlySerGlyGly)	KRT9	Duplication (inframe_insertion)	not provided	GBenign
Select item 2041919	NM_000226.4(KRT9):c.1634G>A (p.Gly545Glu)	KRT9 (G545E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 323115	NM_000226.4(KRT9):c.1594G>A (p.Gly532Ser)	KRT9 (G532S)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, epidermolytic +1 more	GConflicting classifications of pathogenicity
Select item 323116	NM_000226.4(KRT9):c.1587T>C (p.Gly529=)	KRT9	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, epidermolytic +1 more	GBenign/Likely benign
Select item 1472086	NM_000226.4(KRT9):c.1582G>A (p.Gly528Arg)	KRT9 (G528R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 323117	NM_000226.4(KRT9):c.1560C>T (p.Tyr520=)	KRT9	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, epidermolytic +1 more	GConflicting classifications of pathogenicity
Select item 2712609	NM_000226.4(KRT9):c.1491_1559del (p.Gly501_Gly523del)	KRT9	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 889953	NM_000226.4(KRT9):c.1549G>A (p.Gly517Arg)	KRT9 (G517R)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 323118	NM_000226.4(KRT9):c.1520G>T (p.Gly507Val)	KRT9 (G507V)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, epidermolytic +1 more	GUncertain significance
Select item 323119	NM_000226.4(KRT9):c.1519G>C (p.Gly507Arg)	KRT9 (G507R)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, epidermolytic +1 more	GUncertain significance
Select item 1595167	NM_000226.4(KRT9):c.1509A>G (p.Gly503=)	KRT9	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, epidermolytic +1 more	GBenign/Likely benign
Select item 889954	NM_000226.4(KRT9):c.1457G>A (p.Gly486Glu)	KRT9 (G486E)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 3116795	NM_000226.4(KRT9):c.1444G>A (p.Gly482Arg)	KRT9 (G482R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 323120	NM_000226.4(KRT9):c.1407A>T (p.Gly469=)	KRT9	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, epidermolytic +1 more	GBenign
Select item 323121	NM_000226.4(KRT9):c.1405G>A (p.Gly469Arg)	KRT9 (G469R)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 1605563	NM_000226.4(KRT9):c.1404C>T (p.Ser468=)	KRT9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 323122	NM_000226.4(KRT9):c.1395-13C>T	KRT9	Single nucleotide variant (intron variant)	Palmoplantar keratoderma, epidermolytic +1 more	GBenign/Likely benign
Select item 1283937	NM_000226.4(KRT9):c.1395-45A>G	KRT9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3046581	NM_000226.4(KRT9):c.1394+8C>G	KRT9	Single nucleotide variant (intron variant)	KRT9-related disorder	GLikely benign
Select item 323123	NM_000226.4(KRT9):c.1394T>G (p.Phe465Cys)	KRT9 (F465C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2768472	NM_000226.4(KRT9):c.1382_1383delinsAA (p.Gly461Glu)	KRT9 (G461E)	Indel (missense variant)	not provided	GUncertain significance
Select item 66148	NM_000226.4(KRT9):c.1372C>T (p.Leu458Phe)	KRT9 (L458F)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66147	NM_000226.4(KRT9):c.1363_1365dup (p.His455dup)	KRT9	Duplication (inframe_insertion)	not provided	Gnot provided
Select item 891511	NM_000226.4(KRT9):c.1363C>T (p.His455Tyr)	KRT9 (H455Y)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 66146	NM_000226.4(KRT9):c.1360T>C (p.Tyr454His)	KRT9 (Y454H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1901840	NM_000226.4(KRT9):c.1353C>T (p.Ile451=)	KRT9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 323124	NM_000226.4(KRT9):c.1336C>T (p.Arg446Trp)	KRT9 (R446W)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 2347292	NM_000226.4(KRT9):c.1318C>G (p.Leu440Val)	KRT9 (L440V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 323125	NM_000226.4(KRT9):c.1315C>T (p.Leu439Phe)	KRT9 (L439F)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 2411040	NM_000226.4(KRT9):c.1312A>C (p.Ser438Arg)	KRT9 (S438R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 891512	NM_000226.4(KRT9):c.1290C>T (p.Ile430=)	KRT9	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1712161	NM_000226.4(KRT9):c.1275C>A (p.Asp425Glu)	KRT9 (D425E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 891513	NM_000226.4(KRT9):c.1275C>T (p.Asp425=)	KRT9	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 2354686	NM_000226.4(KRT9):c.1255T>G (p.Leu419Val)	KRT9 (L419V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 66145	NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg)	KRT9 (C406R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3009954	NM_000226.4(KRT9):c.1202C>T (p.Thr401Met)	KRT9 (T401M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2256577	NM_000226.4(KRT9):c.1187A>T (p.Lys396Met)	KRT9 (K396M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 323126	NM_000226.4(KRT9):c.1170+8G>T	KRT9	Single nucleotide variant (intron variant)	Palmoplantar keratoderma, epidermolytic +1 more	GBenign/Likely benign
Select item 3116793	NM_000226.4(KRT9):c.1157C>G (p.Ser386Cys)	KRT9 (S386C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 161462	NM_000226.4(KRT9):c.1141G>T (p.Glu381Ter)	KRT9 (E381*)	Single nucleotide variant (nonsense)	Malignant tumor of prostate	GUncertain significance
Select item 891758	NM_000226.4(KRT9):c.1127G>A (p.Gly376Asp)	KRT9 (G376D)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 891759	NM_000226.4(KRT9):c.1126G>A (p.Gly376Ser)	KRT9 (G376S)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 323127	NM_000226.4(KRT9):c.1125C>T (p.His375=)	KRT9	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, epidermolytic +1 more	GConflicting classifications of pathogenicity
Select item 891760	NM_000226.4(KRT9):c.1120C>T (p.Arg374Trp)	KRT9 (R374W)	Single nucleotide variant (missense variant)	KRT9-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 891761	NM_000226.4(KRT9):c.1119C>T (p.Leu373=)	KRT9	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 323128	NM_000226.4(KRT9):c.1096A>G (p.Ser366Gly)	KRT9 (S366G)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 891762	NM_000226.4(KRT9):c.1069T>C (p.Ser357Pro)	KRT9 (S357P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 889332	NM_000226.4(KRT9):c.1049C>T (p.Thr350Ile)	KRT9 (T350I)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 323130	NM_000226.4(KRT9):c.1045-9G>A	KRT9	Single nucleotide variant (intron variant)	Palmoplantar keratoderma, epidermolytic +1 more	GBenign/Likely benign
Select item 323129	NM_000226.4(KRT9):c.1045-9G>T	KRT9	Single nucleotide variant (intron variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 1275723	NM_000226.4(KRT9):c.1045-322GT[23]	KRT9	Microsatellite (intron variant)	not provided	GBenign
Select item 1295085	NM_000226.4(KRT9):c.1045-322GT[18]	KRT9	Microsatellite (intron variant)	not provided	GBenign
Select item 1274228	NM_000226.4(KRT9):c.1045-322GT[21]	KRT9	Microsatellite (intron variant)	not provided	GBenign
Select item 1250368	NM_000226.4(KRT9):c.1045-322GT[19]	KRT9	Microsatellite (intron variant)	not provided	GBenign
Select item 1181975	NM_000226.4(KRT9):c.1045-322GT[20]	KRT9	Microsatellite (intron variant)	not provided	GBenign
Select item 1253654	NM_000226.4(KRT9):c.1044+232T>C	KRT9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2076886	NM_000226.4(KRT9):c.1033T>G (p.Tyr345Asp)	KRT9 (Y345D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 889333	NM_000226.4(KRT9):c.1021A>G (p.Ile341Val)	KRT9 (I341V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2208669	NM_000226.4(KRT9):c.1011C>A (p.Asn337Lys)	KRT9 (N337K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 323131	NM_000226.4(KRT9):c.1011C>T (p.Asn337=)	KRT9	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, epidermolytic +1 more	GConflicting classifications of pathogenicity
Select item 2970040	NM_000226.4(KRT9):c.980G>A (p.Arg327His)	KRT9 (R327H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2344587	NM_000226.4(KRT9):c.979C>T (p.Arg327Cys)	KRT9 (R327C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116801	NM_000226.4(KRT9):c.978G>A (p.Met326Ile)	KRT9 (M326I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 323132	NM_000226.4(KRT9):c.948C>T (p.Gly316=)	KRT9	Single nucleotide variant (synonymous variant)	Palmoplantar keratoderma, epidermolytic +1 more	GBenign/Likely benign
Select item 2981819	NM_000226.4(KRT9):c.937G>A (p.Val313Ile)	KRT9 (V313I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920375	NM_000226.4(KRT9):c.879G>C (p.Lys293Asn)	KRT9 (K293N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 889334	NM_000226.4(KRT9):c.855G>T (p.Leu285=)	KRT9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2531479	NM_000226.4(KRT9):c.851A>T (p.Glu284Val)	KRT9 (E284V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1990191	NM_000226.4(KRT9):c.783G>A (p.Arg261=)	KRT9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869048	NM_000226.4(KRT9):c.754G>A (p.Gly252Arg)	KRT9 (G252R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2217834	NM_000226.4(KRT9):c.748C>T (p.Arg250Trp)	KRT9 (R250W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1568730	NM_000226.4(KRT9):c.745C>T (p.Leu249=)	KRT9	Single nucleotide variant (synonymous variant)	not provided	GBenign

<< First< Prev

Page of 2