KLKB1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	MIR4455, MIR548T +466 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993469, LOC129993470 +455 more	Copy number loss	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	LOC129993480, LOC129993481 +451 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	SAP30-DT, SCRG1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC126807230, LOC126807231 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	UFSP2, VEGFC +375 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	MIR4455, MIR548T +369 more	Copy number gain	See cases	GPathogenic
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	ACSL1, ADAM29 +372 more	Copy number loss	See cases	GPathogenic
Select item 57133	GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	ACSL1, ADAM29 +322 more	Copy number loss	See cases	GPathogenic
Select item 59511	GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 146879	GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 152991	GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	FLJ38576, FRG1 +339 more	Copy number loss	See cases	GPathogenic
Select item 57505	GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1	ACSL1, AGA +324 more	Copy number loss	See cases	GPathogenic
Select item 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic
Select item 59532	GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1	LOC132089100, LOC132089101 +293 more	Copy number loss	See cases	GPathogenic
Select item 148007	GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1	LOC126807226, LOC126807227 +285 more	Copy number loss	See cases	GPathogenic
Select item 148268	GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1	ACSL1, ANKRD37 +287 more	Copy number loss	See cases	GPathogenic
Select item 148187	GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1	ACSL1, ANKRD37 +286 more	Copy number loss	See cases	GPathogenic
Select item 151757	GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3	LOC132089106, LOC132089107 +282 more	Copy number gain	See cases	GPathogenic
Select item 58062	GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3	ACSL1, ANKRD37 +267 more	Copy number gain	See cases	GPathogenic
Select item 146393	GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3	ACSL1, ANKRD37 +275 more	Copy number gain	See cases	GLikely pathogenic
Select item 148270	GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1	ACSL1, ANKRD37 +275 more	Copy number loss	See cases	GPathogenic
Select item 154943	GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	WWC2, WWC2-AS1 +274 more	Copy number gain	See cases	GPathogenic
Select item 144872	GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1	ACSL1, ANKRD37 +256 more	Copy number loss	See cases	GPathogenic
Select item 153318	GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4	ACSL1, ANKRD37 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 149694	GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1	ACSL1, ANKRD37 +241 more	Copy number loss	See cases	GPathogenic
Select item 59536	GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1	ACSL1, ANKRD37 +228 more	Copy number loss	See cases	GPathogenic
Select item 57066	GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1	ACSL1, ANKRD37 +197 more	Copy number loss	See cases	GPathogenic
Select item 147808	GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1	ACSL1, ANKRD37 +206 more	Copy number loss	See cases	GPathogenic
Select item 144227	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1	ACSL1, ANKRD37 +185 more	Copy number loss	See cases	GLikely pathogenic
Select item 144226	GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3	ACSL1, ANKRD37 +185 more	Copy number gain	See cases	GPathogenic
Select item 144741	GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3	ACSL1, ANKRD37 +162 more	Copy number gain	See cases	GPathogenic
Select item 152921	GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3	ANKRD37, CCDC110 +69 more	Copy number gain	See cases	GPathogenic
Select item 59537	GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1	ANKRD37, CCDC110 +118 more	Copy number loss	See cases	GPathogenic
Select item 153280	GRCh38/hg38 4q35.1-35.2(chr4:185290811-187350114)x1	ANKRD37, CCDC110 +67 more	Copy number loss	See cases	GLikely benign
Select item 545305	Single allele	ANKRD37, CCDC110 +80 more	Duplication	Autism	GLikely pathogenic
Select item 59551	GRCh38/hg38 4q35.1-35.2(chr4:185351249-189867552)x1	ANKRD37, CCDC110 +92 more	Copy number loss	See cases	GPathogenic
Select item 155508	GRCh38/hg38 4q35.1-35.2(chr4:185601825-187530334)x3	CYP4V2, F11 +38 more	Copy number gain	See cases	GUncertain significance
Select item 644265	NC_000004.12:g.(?_185684754)_(186709827_?)del	CYP4V2, F11 +26 more	Deletion	not provided	GPathogenic
Select item 150816	GRCh38/hg38 4q35.1-35.2(chr4:185698962-189975613)x1	CYP4V2, F11 +75 more	Copy number loss	See cases	GUncertain significance
Select item 57915	GRCh38/hg38 4q35.1-35.2(chr4:185738786-186557156)x3	CYP4V2, F11 +18 more	Copy number gain	See cases	GUncertain significance
Select item 149571	GRCh38/hg38 4q35.1-35.2(chr4:185790027-187829822)x4	CYP4V2, F11 +41 more	Copy number gain	See cases	GUncertain significance
Select item 152067	GRCh38/hg38 4q35.1-35.2(chr4:185991833-186443602)x1	CYP4V2, F11 +13 more	Copy number loss	See cases	GUncertain significance
Select item 155401	GRCh38/hg38 4q35.1-35.2(chr4:186008491-186212590)x4	CYP4V2, FAM149A +10 more	Copy number gain	See cases	GLikely benign
Select item 223122	NC_000004.12:g.(?_186013132)_(186215992_?)dup	CYP4V2, FAM149A +10 more	Duplication	Autism spectrum disorder	GUncertain significance
Select item 149040	GRCh38/hg38 4q35.1-35.2(chr4:186037136-186271594)x1	CYP4V2, F11 +10 more	Copy number loss	See cases	GPathogenic
Select item 148762	GRCh38/hg38 4q35.1-35.2(chr4:186129390-190095391)x1	CYP4V2, DBET +72 more	Copy number loss	See cases	GUncertain significance
Select item 146635	GRCh38/hg38 4q35.1-35.2(chr4:186187749-189800953)x1	CYP4V2, F11 +62 more	Copy number loss	See cases	GPathogenic
Select item 1703259	Single allele	CYP4V2, DBET +67 more	Deletion	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 902423	NM_207352.4(CYP4V2):c.*232G>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 902424	NM_207352.4(CYP4V2):c.*282A>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 348319	NM_207352.4(CYP4V2):c.*364T>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 348318	NM_207352.4(CYP4V2):c.*364T>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348320	NM_207352.4(CYP4V2):c.*392G>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 899678	NM_207352.4(CYP4V2):c.*449C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 348321	NM_207352.4(CYP4V2):c.*452C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 899679	NM_207352.4(CYP4V2):c.*636A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348322	NM_207352.4(CYP4V2):c.*659A>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348323	NM_207352.4(CYP4V2):c.*715C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348324	NM_207352.4(CYP4V2):c.*725C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 348325	NM_207352.4(CYP4V2):c.*741C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 902490	NM_207352.4(CYP4V2):c.*810C>G	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348326	NM_207352.4(CYP4V2):c.*829C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 902491	NM_207352.4(CYP4V2):c.*836C>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +1 more	GUncertain significance
Select item 348327	NM_207352.4(CYP4V2):c.*888G>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 903356	NM_207352.4(CYP4V2):c.*923G>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 903357	NM_207352.4(CYP4V2):c.*999C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348328	NM_207352.4(CYP4V2):c.1023_1026del	CYP4V2, KLKB1	Deletion (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348329	NM_207352.4(CYP4V2):c.1023_1024del	CYP4V2, KLKB1	Deletion (3 prime UTR variant)	Corneal Dystrophy, Recessive +2 more	GUncertain significance
Select item 348332	NM_207352.4(CYP4V2):c.*1025CA[19]	KLKB1, CYP4V2	Microsatellite (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +2 more	GUncertain significance
Select item 348331	NM_207352.4(CYP4V2):c.*1025CA[18]	KLKB1, CYP4V2	Microsatellite (3 prime UTR variant)	Corneal Dystrophy, Recessive +2 more	GUncertain significance
Select item 348330	NM_207352.4(CYP4V2):c.*1023T>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348333	NM_207352.4(CYP4V2):c.*1027C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 899741	NM_207352.4(CYP4V2):c.*1052A>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348337	NM_207352.4(CYP4V2):c.*1053C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 348336	NM_207352.4(CYP4V2):c.1054_1055insTA	CYP4V2, KLKB1	Insertion (3 prime UTR variant)	Corneal Dystrophy, Recessive +2 more	GUncertain significance
Select item 348335	NM_207352.4(CYP4V2):c.1056_1057insCATACA	CYP4V2, KLKB1	Insertion (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348334	NM_207352.4(CYP4V2):c.1056_1057insCACACATACA	CYP4V2, KLKB1	Insertion (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348347	NM_207352.4(CYP4V2):c.*1057T>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Corneal dystrophy +2 more	GUncertain significance
Select item 348346	NM_207352.4(CYP4V2):c.*1059CA[5]	CYP4V2, KLKB1	Microsatellite (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +2 more	GUncertain significance
Select item 348345	NM_207352.4(CYP4V2):c.*1057delinsCACATACAC	CYP4V2, KLKB1	Indel (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348344	NM_207352.4(CYP4V2):c.*1057delinsCACACATACAC	CYP4V2, KLKB1	Indel (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348343	NM_207352.4(CYP4V2):c.*1057delinsCACACACACATACAC	CYP4V2, KLKB1	Indel (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348342	NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACACACACACATACAC	CYP4V2, KLKB1	Indel (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348341	NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACACACACAC	CYP4V2, KLKB1	Indel (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348340	NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACAC	CYP4V2, KLKB1	Indel (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance
Select item 348339	NM_207352.4(CYP4V2):c.*1057delinsCACACACACAC	CYP4V2, KLKB1	Indel (3 prime UTR variant)	Corneal Dystrophy, Recessive +1 more	GUncertain significance

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