ClinVar for Gene (Select 3857) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3536325	NM_000226.4(KRT9):c.220G>T (p.Gly74Cys)	KRT9 (G74C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3536324	NM_000226.4(KRT9):c.634A>C (p.Lys212Gln)	KRT9 (K212Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3536322	NM_000226.4(KRT9):c.605C>T (p.Ser202Phe)	KRT9 (S202F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3536321	NM_000226.4(KRT9):c.1505G>A (p.Ser502Asn)	KRT9 (S502N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3536320	NM_000226.4(KRT9):c.463A>C (p.Ser155Arg)	KRT9 (S155R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3536319	NM_000226.4(KRT9):c.934A>G (p.Asn312Asp)	KRT9 (N312D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3536318	NM_000226.4(KRT9):c.1279C>T (p.Arg427Trp)	KRT9 (R427W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3389865	NM_000226.4(KRT9):c.1034_1035del (p.Gln344_Tyr345insTer)	KRT9	Microsatellite (nonsense)	not provided	GUncertain significance
Select item 3382072	NM_000226.4(KRT9):c.1282C>T (p.Gln428Ter)	KRT9 (Q428*)	Single nucleotide variant (nonsense)	Epidermolytic palmoplantar keratoderma, 1	GUncertain significance
Select item 3381607	NM_000226.4(KRT9):c.571A>G (p.Lys191Glu)	KRT9 (K191E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3289593	NM_000226.4(KRT9):c.918T>G (p.Asp306Glu)	KRT9 (D306E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289592	NM_000226.4(KRT9):c.973G>A (p.Asp325Asn)	KRT9 (D325N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289591	NM_000226.4(KRT9):c.259G>C (p.Gly87Arg)	KRT9 (G87R)	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 3237488	NM_000226.4(KRT9):c.488G>T (p.Arg163Leu)	KRT9 (R163L)	Single nucleotide variant (missense variant)	Epidermolytic palmoplantar keratoderma, 1	GLikely pathogenic
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 3116800	NM_000226.4(KRT9):c.742A>G (p.Asn248Asp)	KRT9 (N248D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116798	NM_000226.4(KRT9):c.430G>A (p.Gly144Ser)	KRT9 (G144S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3116796	NM_000226.4(KRT9):c.16T>C (p.Phe6Leu)	KRT9 (F6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3116793	NM_000226.4(KRT9):c.1157C>G (p.Ser386Cys)	KRT9 (S386C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063506	GRCh37/hg19 17q21.2(chr17:39705863-40358580)x3	ACLY, CNP +25 more	Copy number gain	not specified	GUncertain significance
Select item 3055652	NM_000226.4(KRT9):c.354_377dup (p.Gly126_Tyr127insSerGlyGlyGlyPheGlyGlyGly)	KRT9	Duplication	KRT9-related disorder	GUncertain significance
Select item 3046581	NM_000226.4(KRT9):c.1394+8C>G	KRT9	Single nucleotide variant (intron variant)	KRT9-related disorder	GLikely benign
Select item 3044333	NM_000226.4(KRT9):c.87G>A (p.Arg29=)	KRT9	Single nucleotide variant (synonymous variant)	KRT9-related disorder	GLikely benign
Select item 3036315	NM_000226.4(KRT9):c.327G>A (p.Gly109=)	KRT9	Single nucleotide variant (synonymous variant)	KRT9-related disorder	GLikely benign
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 3034059	NM_000226.4(KRT9):c.45C>T (p.Gly15=)	KRT9	Single nucleotide variant (synonymous variant)	KRT9-related disorder	GLikely benign
Select item 3009954	NM_000226.4(KRT9):c.1202C>T (p.Thr401Met)	KRT9 (T401M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2970040	NM_000226.4(KRT9):c.980G>A (p.Arg327His)	KRT9 (R327H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2920375	NM_000226.4(KRT9):c.879G>C (p.Lys293Asn)	KRT9 (K293N)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2845774	NM_000226.4(KRT9):c.500A>G (p.Tyr167Cys)	KRT9 (Y167C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768472	NM_000226.4(KRT9):c.1382_1383delinsAA (p.Gly461Glu)	KRT9 (G461E)	Indel (missense variant)	not provided	GUncertain significance
Select item 2712609	NM_000226.4(KRT9):c.1491_1559del (p.Gly501_Gly523del)	KRT9	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2636321	NM_000226.4(KRT9):c.566A>G (p.Tyr189Cys)	KRT9 (Y189C)	Single nucleotide variant (missense variant)	KRT9-related disorder	GUncertain significance
Select item 2614618	NM_000226.4(KRT9):c.400T>C (p.Phe134Leu)	KRT9 (F134L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593785	NM_000226.4(KRT9):c.101G>A (p.Arg34His)	KRT9 (R34H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2491458	NM_000226.4(KRT9):c.227G>A (p.Gly76Glu)	KRT9 (G76E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469024	NM_000226.4(KRT9):c.223G>A (p.Gly75Arg)	KRT9 (G75R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2404247	NM_000226.4(KRT9):c.95A>G (p.Tyr32Cys)	KRT9 (Y32C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385035	NM_000226.4(KRT9):c.596A>G (p.Lys199Arg)	KRT9 (K199R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2347292	NM_000226.4(KRT9):c.1318C>G (p.Leu440Val)	KRT9 (L440V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2308244	NM_000226.4(KRT9):c.512T>G (p.Val171Gly)	KRT9 (V171G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2293381	NM_000226.4(KRT9):c.23C>T (p.Ser8Leu)	KRT9 (S8L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274884	NM_000226.4(KRT9):c.196G>A (p.Gly66Ser)	KRT9 (G66S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2226904	NM_000226.4(KRT9):c.46G>A (p.Gly16Arg)	KRT9 (G16R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221261	NM_000226.4(KRT9):c.349G>A (p.Gly117Ser)	KRT9 (G117S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2208669	NM_000226.4(KRT9):c.1011C>A (p.Asn337Lys)	KRT9 (N337K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2052620	NM_000226.4(KRT9):c.421G>T (p.Ala141Ser)	KRT9 (A141S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2049927	NM_000226.4(KRT9):c.382G>C (p.Gly128Arg)	KRT9 (G128R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1990191	NM_000226.4(KRT9):c.783G>A (p.Arg261=)	KRT9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902766	NM_000226.4(KRT9):c.567C>T (p.Tyr189=)	KRT9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1901840	NM_000226.4(KRT9):c.1353C>T (p.Ile451=)	KRT9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1687438	NM_000226.4(KRT9):c.500A>C (p.Tyr167Ser)	KRT9 (Y167S)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, epidermolytic	GLikely pathogenic
Select item 1673103	NM_000226.4(KRT9):c.643-4del	KRT9	Deletion (intron variant)	not provided	GBenign
Select item 1629631	NM_000226.4(KRT9):c.578G>C (p.Gly193Ala)	KRT9 (G193A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1622183	NM_000226.4(KRT9):c.1509_1706del (p.Tyr520_Ser585del)	KRT9	Deletion (inframe_deletion)	not provided	GBenign
Select item 1605563	NM_000226.4(KRT9):c.1404C>T (p.Ser468=)	KRT9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1595167	NM_000226.4(KRT9):c.1509A>G (p.Gly503=)	KRT9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1568730	NM_000226.4(KRT9):c.745C>T (p.Leu249=)	KRT9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1547604	NM_000226.4(KRT9):c.643-5_643-4dup	KRT9	Duplication (intron variant)	not provided	GBenign
Select item 1507802	NM_000226.4(KRT9):c.38G>A (p.Arg13His)	KRT9 (R13H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1489909	NM_000226.4(KRT9):c.479T>C (p.Leu160Pro)	KRT9 (L160P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1470853	NM_000226.4(KRT9):c.538G>A (p.Asp180Asn)	KRT9 (D180N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307643	NM_000226.4(KRT9):c.446T>G (p.Leu149Arg)	KRT9 (L149R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1295085	NM_000226.4(KRT9):c.1045-322GT[18]	KRT9	Microsatellite (intron variant)	not provided	GBenign
Select item 1286922	NM_000226.4(KRT9):c.*40+59del	KRT9	Deletion (intron variant)	not provided	GBenign
Select item 1283937	NM_000226.4(KRT9):c.1395-45A>G	KRT9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275723	NM_000226.4(KRT9):c.1045-322GT[23]	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 1253654	NM_000226.4(KRT9):c.1044+232T>C	KRT9	Single nucleotide variant (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 1250368	NM_000226.4(KRT9):c.1045-322GT[19]	KRT9	Microsatellite (intron variant)	not provided	GBenign
Select item 1244722	NM_000226.4(KRT9):c.642+257del	KRT9	Deletion (intron variant)	not provided	GBenign
Select item 1244310	NC_000017.11:g.41572091C>T	KRT9	Single nucleotide variant	not provided	GBenign
Select item 1232956	NM_000226.4(KRT9):c.*40+47dup	KRT9	Duplication (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 1050022	NM_000226.4(KRT9):c.1648_1714del (p.His550fs)	KRT9 (H550fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1049613	NM_000226.4(KRT9):c.718A>G (p.Arg240Gly)	KRT9 (R240G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 975887	NM_000226.4(KRT9):c.532AAC[1] (p.Asn179del)	KRT9 (N179del)	Microsatellite (inframe_deletion)	Palmoplantar keratoderma, epidermolytic	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 891831	NM_000226.4(KRT9):c.-23A>G	KRT9	Single nucleotide variant (5 prime UTR variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 891830	NM_000226.4(KRT9):c.121G>A (p.Gly41Ser)	KRT9 (G41S)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, epidermolytic	GUncertain significance
Select item 891829	NM_000226.4(KRT9):c.212A>G (p.Tyr71Cys)	KRT9 (Y71C)	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

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