F11-AS1[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 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 1239496	NM_000128.4(F11):c.1481-215C>T	F11, F11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 760971	NM_000128.4(F11):c.1481-188C>T	F11, F11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1185147	NM_000128.4(F11):c.1481-34G>T	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2985207	NM_000128.4(F11):c.1481-20C>G	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896634	NM_000128.4(F11):c.1481-17C>T	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759570	NM_000128.4(F11):c.1481-16del	F11-AS1, F11	Deletion (intron variant)	not provided	GLikely benign
Select item 2882664	NM_000128.4(F11):c.1481-15del	F11, F11-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2759571	NM_000128.4(F11):c.1481-15_1481-14insCC	F11, F11-AS1	Insertion (intron variant)	not provided	GLikely benign
Select item 2882665	NM_000128.4(F11):c.1481-14T>C	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1555323	NM_000128.4(F11):c.1481-9T>A	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2858560	NM_000128.4(F11):c.1481-8A>T	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 551810	NM_000128.4(F11):c.1481-1G>C	F11, F11-AS1	Single nucleotide variant (splice acceptor variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 370461	NM_000128.4(F11):c.1481-1G>T	F11, F11-AS1	Single nucleotide variant (splice acceptor variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 280137	NM_000128.4(F11):c.1489C>T (p.Arg497Ter)	F11, F11-AS1 (R497*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 68178	NM_000128.4(F11):c.1507T>C (p.Ser503Pro)	F11-AS1, F11 (S503P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3024032	NM_000128.4(F11):c.1512del (p.Gly505fs)	F11, F11-AS1 (G505fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 68179	NM_000128.4(F11):c.1517A>G (p.Asp506Gly)	F11, F11-AS1 (D506G)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 1150834	NM_000128.4(F11):c.1518T>C (p.Asp506=)	F11, F11-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1090131	NM_000128.4(F11):c.1519A>C (p.Arg507=)	F11, F11-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1091947	NM_000128.4(F11):c.1521A>G (p.Arg507=)	F11-AS1, F11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1101749	NM_000128.4(F11):c.1525G>A (p.Val509Ile)	F11, F11-AS1 (V509I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 68182	NM_000128.4(F11):c.1531T>C (p.Tyr511His)	F11, F11-AS1 (Y511H)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 68183	NM_000128.4(F11):c.1541G>T (p.Cys514Phe)	F11, F11-AS1 (C514F)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 555904	NM_000128.4(F11):c.1546G>A (p.Val516Met)	F11, F11-AS1 (V516M)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GConflicting classifications of pathogenicity
Select item 370801	NM_000128.4(F11):c.1560dup (p.Tyr521fs)	F11, F11-AS1 (Y521fs)	Duplication (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 188887	NM_000128.4(F11):c.1556G>A (p.Trp519Ter)	F11, F11-AS1 (W519*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2734697	NM_000128.4(F11):c.1557G>C (p.Trp519Cys)	F11, F11-AS1 (W519C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1147724	NM_000128.4(F11):c.1560G>A (p.Gly520=)	F11, F11-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 194153	NM_000128.4(F11):c.1560G>T (p.Gly520=)	F11, F11-AS1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2028055	NM_000128.4(F11):c.1576+9G>A	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889386	NM_000128.4(F11):c.1576+11T>C	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732291	NM_000128.4(F11):c.1576+19T>C	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185148	NM_000128.4(F11):c.1576+51C>A	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1235315	NM_000128.4(F11):c.1577-297T>C	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234999	NM_000128.4(F11):c.1577-148A>T	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264639	NM_000128.4(F11):c.1577-93_1577-92dup	F11, F11-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1294969	NM_000128.4(F11):c.1577-92AT[10]	F11, F11-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1244175	NM_000128.4(F11):c.1577-92AT[11]	F11, F11-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1285987	NM_000128.4(F11):c.1577-92AT[8]	F11, F11-AS1	Microsatellite (intron variant)	not provided	GBenign

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