KLF5[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	ACOD1, AKAP11 +1004 more	Copy number gain	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	DNAJC15, EBPL +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	SIAH3, SLAIN1 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009906, LOC130009907 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	LINC00561, LINC00562 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	ABCC4, ABHD13 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	LINC00550, LINC00552 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	ACOD1, ALG11 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	ACOD1, ALG11 +513 more	Copy number loss	See cases	GPathogenic
Select item 145617	GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1	ACOD1, ATXN8OS +258 more	Copy number loss	See cases	GPathogenic
Select item 152961	GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1	ACOD1, ATXN8OS +202 more	Copy number loss	See cases	GPathogenic
Select item 150124	GRCh38/hg38 13q21.31-22.1(chr13:64065900-73693578)x3	ATXN8OS, BORA +70 more	Copy number gain	See cases	GPathogenic
Select item 145515	GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1	LOC130009900, LOC130009901 +232 more	Copy number loss	See cases	GPathogenic
Select item 149578	GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1	KLF5, LINC00331 +141 more	Copy number loss	See cases	GPathogenic
Select item 2529022	NM_001730.5(KLF5):c.26G>A (p.Ser9Asn)	KLF5, LOC130009879 (S9N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398405	NM_001730.5(KLF5):c.55C>T (p.Pro19Ser)	KLF5 (P19S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347257	NM_001730.5(KLF5):c.121C>G (p.Arg41Gly)	KLF5 (R41G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253642	NM_001730.5(KLF5):c.121C>T (p.Arg41Cys)	KLF5 (R41C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115336	NM_001730.5(KLF5):c.138C>G (p.Phe46Leu)	KLF5 (F46L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115337	NM_001730.5(KLF5):c.166C>T (p.His56Tyr)	KLF5 (H56Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115338	NM_001730.5(KLF5):c.208C>T (p.Pro70Ser)	KLF5 (P70S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115339	NM_001730.5(KLF5):c.209C>T (p.Pro70Leu)	KLF5 (P70L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458959	NM_001730.5(KLF5):c.218C>T (p.Pro73Leu)	KLF5 (P73L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115340	NM_001730.5(KLF5):c.260A>C (p.Gln87Pro)	KLF5 (Q87P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458399	NM_001730.5(KLF5):c.280A>C (p.Lys94Gln)	KLF5 (K94Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354561	NM_001730.5(KLF5):c.313A>G (p.Ile105Val)	KLF5 (I105V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242828	NM_001730.5(KLF5):c.364C>A (p.Gln122Lys)	KLF5 (Q122K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242829	NM_001730.5(KLF5):c.365A>C (p.Gln122Pro)	KLF5 (Q31P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115341	NM_001730.5(KLF5):c.377A>G (p.Asp126Gly)	KLF5 (D126G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303869	NM_001730.5(KLF5):c.553G>T (p.Ala185Ser)	KLF5 (A94S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115342	NM_001730.5(KLF5):c.614A>G (p.Asn205Ser)	KLF5 (N114S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231071	NM_001730.5(KLF5):c.614A>C (p.Asn205Thr)	KLF5 (N114T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263086	NM_001730.5(KLF5):c.655C>G (p.Leu219Val)	KLF5 (L128V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115343	NM_001730.5(KLF5):c.722G>C (p.Ser241Thr)	KLF5 (S150T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776799	NM_001730.5(KLF5):c.745A>G (p.Met249Val)	KLF5 (M158V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3115344	NM_001730.5(KLF5):c.812C>T (p.Pro271Leu)	KLF5 (P180L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343239	NM_001730.5(KLF5):c.853A>G (p.Thr285Ala)	KLF5 (T194A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115345	NM_001730.5(KLF5):c.884A>C (p.Gln295Pro)	KLF5 (Q204P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379757	NM_001730.5(KLF5):c.1024A>G (p.Asn342Asp)	KLF5 (N251D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 694066	NM_001730.5(KLF5):c.1100T>A (p.Leu367Ter)	KLF5 (L276* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1FF	GPathogenic
Select item 3115335	NM_001730.5(KLF5):c.1239G>T (p.Arg413Ser)	KLF5 (R413S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324473	NM_001730.5(KLF5):c.1316A>G (p.Asn439Ser)	KLF5 (N439S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063284	GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1	ACOD1, ATXN8OS +49 more	Copy number loss	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic
Select item 2685472	GRCh37/hg19 13q21.33-22.2(chr13:71119640-76667297)x1	BORA, COMMD6 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 1809449	GRCh37/hg19 13q22.1-22.3(chr13:73600015-77624907)x1	ACOD1, CLN5 +12 more	Copy number loss	not provided	GUncertain significance
Select item 1807886	GRCh37/hg19 13q22.1(chr13:73640041-73853191)x3	KLF5	Copy number gain	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527782	GRCh37/hg19 13q22.1(chr13:73468241-74647046)	KLF12, KLF5 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1527780	GRCh37/hg19 13q21.33-22.1(chr13:69200998-75160653)	ATXN8OS, BORA +9 more	Copy number loss	not specified	GUncertain significance
Select item 1527778	GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)	ACOD1, ATXN8OS +29 more	Copy number loss	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ABCC4, ABHD13 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	ACOD1, AKAP11 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	CLN5, CNMD +147 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	DCT, DGKH +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1341055	GRCh37/hg19 13q21.1-31.2(chr13:59574760-89410027)x1	ACOD1, ATXN8OS +35 more	Copy number loss	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 816480	GRCh37/hg19 13q21.1-22.1(chr13:58432035-73649333)x3	ATXN8OS, BORA +10 more	Copy number gain	See cases	GUncertain significance
Select item 815600	GRCh37/hg19 13q21.33-31.1(chr13:71502357-86571730)x1	KLF12, DIS3 +27 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	ABCC4, ABHD13 +142 more	Copy number loss	not provided	GPathogenic
Select item 815587	GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1	KLF5, KLHL1 +62 more	Copy number loss	not provided	GPathogenic
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	AKAP11, ALG11 +211 more	Copy number gain	not provided	GPathogenic
Select item 443522	GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3	ABCC4, ACOD1 +60 more	Copy number gain	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	HTR2A, IFT88 +332 more	Copy number gain	See cases	GPathogenic
Select item 441662	GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4	CDC16, COMMD6 +125 more	Copy number gain	See cases	GPathogenic
Select item 395478	GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1	ABCC4, ABHD13 +102 more	Copy number loss	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 394318	GRCh37/hg19 13q21.33-31.1(chr13:72174742-82221361)x1	ACOD1, BORA +25 more	Copy number loss	See cases	GPathogenic
Select item 253533	GRCh37/hg19 13q21.33-31.2(chr13:72013791-88021559)x1	SLAIN1, POU4F1 +27 more	Copy number loss	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic

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Items: 98