2483[geneid] - 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 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 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 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 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 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 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	ACSL1, ANKRD37 +185 more	Copy number gain	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 1703259	Single allele	CYP4V2, DBET +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 154489	GRCh38/hg38 4q35.2(chr4:188915479-189975519)x3	FRG1, FRG1-DT +12 more	Copy number gain	See cases	GLikely benign
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, LOC123493255 +12 more	Copy number loss	See cases	GLikely benign
Select item 154240	GRCh38/hg38 4q35.2(chr4:189102550-190036318)x1	FRG1, FRG1-DT +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 153448	GRCh38/hg38 4q35.2(chr4:189328689-190036318)x3	FRG1, FRG1-DT +10 more	Copy number gain	See cases	GUncertain significance
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
Select item 2338345	NM_004477.3(FRG1):c.28A>G (p.Thr10Ala)	FRG1 (T10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681286	NM_004477.3(FRG1):c.77G>A (p.Ser26Asn)	FRG1 (S26N)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2399460	NM_004477.3(FRG1):c.95A>G (p.Lys32Arg)	FRG1 (K32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 799700	NM_004477.3(FRG1):c.117C>G (p.Thr39=)	FRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2457884	NM_004477.3(FRG1):c.197A>G (p.Lys66Arg)	FRG1 (K66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047662	NM_004477.3(FRG1):c.267G>A (p.Glu89=)	FRG1	Single nucleotide variant (synonymous variant)	FRG1-related disorder	GLikely benign
Select item 805973	NM_004477.3(FRG1):c.317+1G>T	FRG1	Single nucleotide variant (splice donor variant)	CIC-rearranged sarcoma	Gnot provided
Select item 144877	GRCh38/hg38 4q35.2(chr4:189953302-190022219)x3	FRG1, LOC123493255	Copy number gain	See cases	GBenign
Select item 1696825	NM_004477.3(FRG1):c.322G>A (p.Ala108Thr)	FRG1 (A108T)	Single nucleotide variant (missense variant)	Pulmonary artery atresia	GPathogenic
Select item 3059649	NM_004477.3(FRG1):c.368G>A (p.Gly123Glu)	FRG1 (G123E)	Single nucleotide variant (missense variant)	FRG1-related disorder	GLikely benign
Select item 3279848	NM_004477.3(FRG1):c.373G>A (p.Val125Ile)	FRG1 (V125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619842	NM_004477.3(FRG1):c.417A>T (p.Glu139Asp)	FRG1 (E139D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060100	NM_004477.3(FRG1):c.537+4A>T	FRG1	Single nucleotide variant (intron variant)	FRG1-related disorder	GBenign
Select item 2367804	NM_004477.3(FRG1):c.575A>G (p.Asp192Gly)	FRG1 (D192G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718404	NM_004477.3(FRG1):c.577G>A (p.Asp193Asn)	FRG1 (D193N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2264758	NM_004477.3(FRG1):c.623A>G (p.Asn208Ser)	FRG1 (N208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060231	NM_004477.3(FRG1):c.627T>C (p.Tyr209=)	FRG1	Single nucleotide variant (synonymous variant)	FRG1-related disorder	GLikely benign
Select item 1175140	NM_004477.3(FRG1):c.630-4A>G	FRG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2612956	NM_004477.3(FRG1):c.671G>A (p.Ser224Asn)	FRG1 (S224N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096861	NM_004477.3(FRG1):c.685A>G (p.Lys229Glu)	FRG1 (K229E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316867	NM_004477.3(FRG1):c.689T>C (p.Ile230Thr)	FRG1 (I230T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031374	NM_004477.3(FRG1):c.732T>C (p.Leu244=)	FRG1	Single nucleotide variant (synonymous variant)	FRG1-related disorder	GLikely benign
Select item 3148916	GRCh37/hg19 4q35.2(chr4:188221101-190957460)x1	FRG1, FRG2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 3148911	GRCh37/hg19 4q35.2(chr4:188889659-190957460)x1	FRG1, FRG2 +3 more	Copy number loss	See cases	GUncertain significance
Select item 3148855	GRCh37/hg19 4q35.2(chr4:188339897-190957460)x1	FRG1, FRG2 +3 more	Copy number loss	See cases	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	AADAT, ACSL1 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	AADAT, AASDH +537 more	Copy number gain	not provided	GPathogenic
Select item 2685138	GRCh37/hg19 4q35.1-35.2(chr4:187040986-190957473)x1	CYP4V2, F11 +9 more	Copy number loss	not provided	GUncertain significance
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 2671582	Single allele	MTNR1A, PDLIM3 +36 more	Deletion	not provided	GPathogenic
Select item 2583028	GRCh37/hg19 4q35.2(chr4:188923962-190948359)x1	FRG1, FRG2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1808963	GRCh37/hg19 4q35.2(chr4:187853428-190957473)x3	FRG1, FRG2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807820	GRCh37/hg19 4q35.1-35.2(chr4:183694501-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 1711166	GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1	AADAT, ACSL1 +69 more	Copy number loss	See cases	GPathogenic
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	CYP4V2, HAND2 +93 more	Copy number loss	See cases	GPathogenic
Select item 1710924	GRCh37/hg19 4q35.1-35.2(chr4:185211271-190957473)x1	ACSL1, ANKRD37 +26 more	Copy number loss	See cases	GPathogenic
Select item 1704649	GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1	ACSL1, ADAM29 +50 more	Copy number loss	FETAL DEMISE	GPathogenic
Select item 1527143	GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473)	CFAP96, ANKRD37 +26 more	Copy number loss	not specified	GPathogenic
Select item 1527141	GRCh37/hg19 4q35.1-35.2(chr4:183221828-190957473)	ACSL1, ANKRD37 +37 more	Copy number loss	not specified	GPathogenic

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