FRG1-DT[gene] - ClinVar

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Search results

Items: 68

	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 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 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 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 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 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 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 59537	GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1	ANKRD37, CCDC110 +118 more	Copy number loss	See cases	GPathogenic
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 150816	GRCh38/hg38 4q35.1-35.2(chr4:185698962-189975613)x1	CYP4V2, F11 +75 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 152922	GRCh38/hg38 4q35.2(chr4:186625270-190018185)x1	FAT1, FRG1 +50 more	Copy number loss	See cases	GPathogenic
Select item 60220	GRCh38/hg38 4q35.2(chr4:187347785-190042639)x1	FRG1, FRG1-DT +42 more	Copy number loss	See cases	GUncertain significance
Select item 154576	GRCh38/hg38 4q35.2(chr4:187987662-189975519)x1	FRG1, FRG1-DT +30 more	Copy number loss	See cases	GUncertain significance
Select item 57916	GRCh38/hg38 4q35.2(chr4:188165012-190042639)x3	FRG1, FRG1-DT +25 more	Copy number gain	See cases	GUncertain significance
Select item 57917	GRCh38/hg38 4q35.2(chr4:188324612-189885079)x3	FRG1-DT, LINC01060 +21 more	Copy number gain	See cases	GUncertain significance
Select item 150789	GRCh38/hg38 4q35.2(chr4:188915466-189792445)x3	FRG1-DT, LINC01262 +9 more	Copy number gain	See cases	GBenign
Select item 154489	GRCh38/hg38 4q35.2(chr4:188915479-189975519)x3	FRG1, FRG1-DT +12 more	Copy number gain	See cases	GLikely benign
Select item 147532	GRCh38/hg38 4q35.2(chr4:188915479-189792496)x3	FRG1-DT, LINC01262 +9 more	Copy number gain	See cases	GUncertain significance
Select item 148378	GRCh38/hg38 4q35.2(chr4:188957851-190095391)x1	DBET, FRG1 +14 more	Copy number loss	See cases	GLikely benign
Select item 146430	GRCh38/hg38 4q35.2(chr4:188993014-189975519)x1	FRG1, FRG1-DT +11 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 150025	GRCh38/hg38 4q35.2(chr4:189047095-190095391)x3	DBET, FRG1 +14 more	Copy number gain	See cases	GUncertain significance
Select item 146202	GRCh38/hg38 4q35.2(chr4:189047095-189975519)x3	FRG1, FRG1-DT +11 more	Copy number gain	See cases	GUncertain significance
Select item 151689	GRCh38/hg38 4q35.2(chr4:189099800-190018185)x1	FRG1, FRG1-DT +11 more	Copy number loss	See cases	GLikely benign
Select item 153599	GRCh38/hg38 4q35.2(chr4:189102173-190036318)x1	FRG1, FRG1-DT +12 more	Copy number loss	See cases	GLikely benign
Select item 154240	GRCh38/hg38 4q35.2(chr4:189102550-190036318)x1	LOC123493255, LOC126088085 +12 more	Copy number loss	See cases	GUncertain significance
Select item 150844	GRCh38/hg38 4q35.2(chr4:189106871-190095391)x1	DBET, FRG1 +13 more	Copy number loss	See cases	GLikely benign
Select item 33342	GRCh38/hg38 4q35.2(chr4:189111218-189975519)x1	FRG1, FRG1-DT +10 more	Copy number loss	See cases	GConflicting classifications of pathogenicity
Select item 57109	GRCh38/hg38 4q35.2(chr4:189128061-189975519)x1	FRG1, FRG1-DT +10 more	Copy number loss	See cases	GUncertain significance
Select item 148142	GRCh38/hg38 4q35.2(chr4:189164016-189792496)x1	LOC126807277, LOC126807278 +6 more	Copy number loss	See cases	GBenign
Select item 153448	GRCh38/hg38 4q35.2(chr4:189328689-190036318)x3	FRG1, FRG1-DT +10 more	Copy number gain	See cases	GUncertain significance
Select item 154652	GRCh38/hg38 4q35.2(chr4:189343236-189869726)x3	LOC126807277, FRG1-DT +5 more	Copy number gain	See cases	GUncertain significance
Select item 151719	GRCh38/hg38 4q35.2(chr4:189427039-189826409)x1	FRG1-DT, LINC01262 +5 more	Copy number loss	See cases	GBenign
Select item 149327	GRCh38/hg38 4q35.2(chr4:189476888-190095391)x1	DBET, FRG1 +11 more	Copy number loss	See cases	GLikely benign
Select item 155542	GRCh38/hg38 4q35.2(chr4:189513541-190036318)x3	FRG1, FRG1-DT +10 more	Copy number gain	See cases	GUncertain significance
Select item 153176	GRCh38/hg38 4q35.2(chr4:189588653-190036318)	FRG1, FRG1-DT +9 more	Copy number loss	See cases	GPathogenic
Select item 146880	GRCh38/hg38 4q35.2(chr4:189792437-190018234)x1	FRG1, FRG1-DT +3 more	Copy number loss	See cases	GPathogenic

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Items: 68