F11[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	LOC123493236, LOC123493237 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	LOC132089056, LOC132089057 +1245 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993256, LOC129993257 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	NDUFC1, NEIL3 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	AADAT, ABCE1 +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	LOC129993386, LOC129993387 +535 more	Copy number gain	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993497, LOC129993498 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	SCRG1, SH3RF1 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	LOC129993480, LOC129993481 +466 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993505, LOC129993506 +455 more	Copy number loss	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	AADAT, ACSL1 +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	AADAT, ACSL1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LINC02500, LINC02504 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	ACSL1, ADAM29 +375 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	ACSL1, ADAM29 +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	FAM149A, FAT1 +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	LOC129993464, LOC129993465 +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	LOC129993464, LOC129993465 +293 more	Copy number loss	See cases	GPathogenic
Select item 148007	GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1	ACSL1, ANKRD37 +285 more	Copy number loss	See cases	GPathogenic
Select item 148268	GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1	LOC129993443, LOC129993444 +287 more	Copy number loss	See cases	GPathogenic
Select item 148187	GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1	LOC126807246, LOC126807247 +286 more	Copy number loss	See cases	GPathogenic
Select item 151757	GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3	ACSL1, ANKRD37 +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	LOC129993452, LOC129993453 +275 more	Copy number loss	See cases	GPathogenic
Select item 154943	GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	ACSL1, ANKRD37 +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	LOC129993511, LOC129993512 +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	SORBS2, TLR3 +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 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	MTNR1A, TRIML1 +62 more	Copy number loss	See cases	GPathogenic
Select item 1703259	Single allele	DBET, DUX4 +67 more	Deletion	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 57003	GRCh38/hg38 4q35.2(chr4:186218358-187484068)x3	F11, F11-AS1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 11905	NC_000004.12:g.(186261554_186262508)_(?_186293752)del	F11, F11-AS1	Deletion	Hereditary factor XI deficiency disease	GPathogenic
Select item 991952	NM_000128.4(F11):c.-459A>G	F11	Single nucleotide variant	Plasma factor XI deficiency	GUncertain significance
Select item 553189	NM_000128.3(F11):c.-456G>A	F11	Single nucleotide variant	Hereditary factor XI deficiency disease	GUncertain significance
Select item 3048113	NC_000004.12:g.186265849A>G	F11	Single nucleotide variant	F11-related condition	GLikely benign
Select item 348367	NM_000128.3(F11):c.-326C>G	F11	Single nucleotide variant	Hereditary factor XI deficiency disease	GUncertain significance
Select item 348368	NM_000128.3(F11):c.-316C>G	F11	Single nucleotide variant	Hereditary factor XI deficiency disease	GBenign
Select item 348369	NM_000128.3(F11):c.-300C>T	F11	Single nucleotide variant	Hereditary factor XI deficiency disease	GUncertain significance
Select item 899920	NM_000128.3(F11):c.-233C>T	F11	Single nucleotide variant	Hereditary factor XI deficiency disease	GUncertain significance
Select item 348370	NM_000128.3(F11):c.-183T>C	F11	Single nucleotide variant	Hereditary factor XI deficiency disease	GUncertain significance
Select item 899921	NM_000128.3(F11):c.-164G>A	F11	Single nucleotide variant	Hereditary factor XI deficiency disease	GUncertain significance
Select item 1684401	NM_000128.3(F11):c.-153T>G	F11	Single nucleotide variant	Hereditary factor XI deficiency disease	GUncertain significance
Select item 899922	NM_000128.4(F11):c.-70G>A	F11	Single nucleotide variant (5 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 899923	NM_000128.4(F11):c.-57G>A	F11	Single nucleotide variant (5 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 348371	NM_000128.4(F11):c.-54G>A	F11	Single nucleotide variant (5 prime UTR variant)	Hereditary factor XI deficiency disease +1 more	GBenign/Likely benign
Select item 626944	NM_000128.4(F11):c.-2G>C	F11	Single nucleotide variant (5 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 1256821	NM_000128.4(F11):c.-1-229T>C	F11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296768	NM_000128.4(F11):c.-1-196T>G	F11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294834	NM_000128.4(F11):c.-1-148_-1-147insTA	F11	Insertion (intron variant)	not provided	GBenign
Select item 1185146	NM_000128.4(F11):c.-1-138A>C	F11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2715165	NM_000128.4(F11):c.-1-4_11del	F11	Deletion (splice acceptor variant +1 more)	not provided	GPathogenic
Select item 552872	NM_000128.4(F11):c.2T>A (p.Met1Lys)	F11 (M1K)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 497493	NM_000128.4(F11):c.3G>T (p.Met1Ile)	F11 (M1I)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease +1 more	GLikely pathogenic
Select item 2077403	NM_000128.4(F11):c.6T>A (p.Ile2=)	F11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 551125	NM_000128.4(F11):c.16C>T (p.Gln6Ter)	F11 (Q6*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 2663236	NM_000128.4(F11):c.17A>G (p.Gln6Arg)	F11 (Q6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 370594	NM_000128.4(F11):c.25_28del (p.His9fs)	F11 (H9fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 3049951	NM_000128.4(F11):c.26A>G (p.His9Arg)	F11 (H9R)	Single nucleotide variant (missense variant)	F11-related condition	GUncertain significance
Select item 1725650	NM_000128.4(F11):c.38_39del (p.Phe13fs)	F11 (F13fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 2188764	NM_000128.4(F11):c.55+1del	F11	Deletion (splice donor variant)	not provided	GPathogenic
Select item 1482191	NM_000128.4(F11):c.55+2T>C	F11	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1684399	NM_000128.4(F11):c.55+6T>G	F11	Single nucleotide variant (intron variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 550706	NM_000128.4(F11):c.55+6delinsGAG	F11	Indel (intron variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 2738166	NM_000128.4(F11):c.55+16T>G	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262979	NM_000128.4(F11):c.56-282T>C	F11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243361	NM_000128.4(F11):c.56-85T>C	F11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2803780	NM_000128.4(F11):c.56-9A>G	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 901093	NM_000128.4(F11):c.56-6T>C	F11	Single nucleotide variant (intron variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 1726585	NM_000128.4(F11):c.60T>A (p.Cys20Ter)	F11 (C20*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 189122	NM_000128.4(F11):c.67C>T (p.Gln23Ter)	F11 (Q23*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic

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