ClinVar for Gene (Select 2483) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3096861	NM_004477.3(FRG1):c.685A>G (p.Lys229Glu)	FRG1 (K229E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +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 3060231	NM_004477.3(FRG1):c.627T>C (p.Tyr209=)	FRG1	Single nucleotide variant (synonymous variant)	FRG1-related disorder	GLikely benign
Select item 3060100	NM_004477.3(FRG1):c.537+4A>T	FRG1	Single nucleotide variant (intron variant)	FRG1-related disorder	GBenign
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 3047662	NM_004477.3(FRG1):c.267G>A (p.Glu89=)	FRG1	Single nucleotide variant (synonymous variant)	FRG1-related disorder	GLikely benign
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 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	SPATA18, SPATA4 +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 2619842	NM_004477.3(FRG1):c.417A>T (p.Glu139Asp)	FRG1 (E139D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2583028	GRCh37/hg19 4q35.2(chr4:188923962-190948359)x1	FRG1, FRG2 +3 more	Copy number loss	not provided	GUncertain significance
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 2399460	NM_004477.3(FRG1):c.95A>G (p.Lys32Arg)	FRG1 (K32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2338345	NM_004477.3(FRG1):c.28A>G (p.Thr10Ala)	FRG1 (T10A)	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 2264758	NM_004477.3(FRG1):c.623A>G (p.Asn208Ser)	FRG1 (N208S)	Single nucleotide variant (missense variant)	not specified	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	AADAT, ACSL1 +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 1703259	Single allele	CYP4V2, DBET +67 more	Deletion	Hereditary factor XI deficiency disease	GLikely pathogenic
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 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
Select item 1527139	GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473)	ACSL1, ADAM29 +46 more	Copy number gain	not specified	GPathogenic
Select item 1340954	GRCh37/hg19 4q35.2(chr4:189828191-190957473)x1	FRG1, FRG2	Copy number loss	not provided	GUncertain significance
Select item 1340519	GRCh37/hg19 4q35.2(chr4:189351336-190957473)x1	FRG1, FRG2	Copy number loss	not provided	GUncertain significance
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 997081	GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678)	ACSL1, ANKRD37 +36 more	Copy number loss	Overgrowth +1 more	GLikely pathogenic
Select item 979496	GRCh37/hg19 4q35.2(chr4:187391214-190957473)x1	ZFP42, FAT1 +5 more	Copy number loss	not provided	GPathogenic
Select item 814636	GRCh37/hg19 4q34.3-35.2(chr4:178566256-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 814622	GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	AADAT, ACSL1 +79 more	Copy number loss	not provided	GPathogenic
Select item 809725	GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1	FAM149A, FAT1 +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 805973	NM_004477.3(FRG1):c.317+1G>T	FRG1	Single nucleotide variant (splice donor variant)	CIC-DUX Sarcoma	Gnot provided
Select item 799700	NM_004477.3(FRG1):c.117C>G (p.Thr39=)	FRG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 689174	GRCh37/hg19 4q34.3-35.2(chr4:179996712-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 688798	GRCh37/hg19 4q35.2(chr4:190023312-190957473)x1	FRG1, FRG2	Copy number loss	not provided	GUncertain significance
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 687025	GRCh37/hg19 4q35.2(chr4:190021956-190957473)x1	FRG1, FRG2	Copy number loss	not provided	GUncertain significance
Select item 686652	GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3	AGA, ANKRD37 +65 more	Copy number gain	not provided	GPathogenic
Select item 685477	GRCh37/hg19 4q35.1-35.2(chr4:184648532-190957473)x1	FAT1, FRG1 +28 more	Copy number loss	not provided	GPathogenic
Select item 685186	GRCh37/hg19 4q35.2(chr4:189779845-190957473)x1	FRG1, FRG2	Copy number loss	not provided	GUncertain significance
Select item 685118	GRCh37/hg19 4q35.2(chr4:189632857-190957473)x1	FRG1, FRG2	Copy number loss	not provided	GUncertain significance
Select item 685014	GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1	AADAT, ACSL1 +70 more	Copy number loss	not provided	GPathogenic
Select item 635958	Single allele	FRG1, FRG2	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 563018	GRCh37/hg19 4q35.2(chr4:190023704-190957473)x1	FRG1, FRG2	Copy number loss	not provided	GUncertain significance
Select item 563016	GRCh37/hg19 4q35.2(chr4:188478516-190957473)x1	TRIML2, FRG2 +3 more	Copy number loss	not provided	GPathogenic
Select item 563008	GRCh37/hg19 4q35.1-35.2(chr4:185017749-190957473)x3	ACSL1, ANKRD37 +27 more	Copy number gain	not provided	GPathogenic
Select item 563006	GRCh37/hg19 4q34.3-35.2(chr4:178771936-190957473)x3	ACSL1, ANKRD37 +37 more	Copy number gain	not provided	GPathogenic
Select item 563004	GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1	ACSL1, AGA +45 more	Copy number loss	not provided	GPathogenic
Select item 563003	GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1	ACSL1, ADAM29 +47 more	Copy number loss	not provided	GPathogenic
Select item 562995	GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1	AADAT, ACSL1 +63 more	Copy number loss	not provided	GPathogenic
Select item 562989	GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3	CFAP96, CFAP97 +92 more	Copy number gain	not provided	GPathogenic
Select item 446364	GRCh37/hg19 4q35.2(chr4:190028469-190963766)x1	FRG1, FRG2	Copy number loss	See cases	GUncertain significance
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443385	GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3	AADAT, ACSL1 +70 more	Copy number gain	See cases	GPathogenic
Select item 443369	GRCh37/hg19 4q34.2-35.2(chr4:176306103-190957473)x3	ACSL1, AGA +45 more	Copy number gain	See cases	GPathogenic
Select item 443064	GRCh37/hg19 4q35.1-35.2(chr4:184852835-190957473)x1	ACSL1, ANKRD37 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 442869	GRCh37/hg19 4q34.3-35.2(chr4:180702769-190957473)x3	ACSL1, ANKRD37 +37 more	Copy number gain	See cases	GPathogenic
Select item 442364	GRCh37/hg19 4q35.1-35.2(chr4:186349585-190957473)x1	CCDC110, CFAP96 +14 more	Copy number loss	See cases	GLikely pathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 441606	GRCh37/hg19 4q35.2(chr4:190023704-190957460)x1	FRG1, FRG2	Copy number loss	See cases	GUncertain significance
Select item 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic
Select item 252980	GRCh37/hg19 4q35.2(chr4:189737788-190963766)x3	FRG1, FRG2	Copy number loss	See cases	GUncertain significance
Select item 242851	GRCh37/hg19 4q35.2(chr4:188498590-190915650)x1	TRIML1, ZFP42 +2 more	Copy number loss	not provided	GPathogenic
Select item 156950	Single allele	FRG1	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided
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 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	SAP30-DT, SCRG1 +451 more	Copy number gain	See cases	GPathogenic
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC129993510, LOC129993511 +383 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	PRIMPOL, RWDD4 +372 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 154576	GRCh38/hg38 4q35.2(chr4:187987662-189975519)x1	FRG1, FRG1-DT +30 more	Copy number loss	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 154240	GRCh38/hg38 4q35.2(chr4:189102550-190036318)x1	FRG1, FRG1-DT +12 more	Copy number loss	See cases	GUncertain significance
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC441052, LRP2BP +455 more	Copy number loss	See cases	GPathogenic
Select item 153599	GRCh38/hg38 4q35.2(chr4:189102173-190036318)x1	FRG1, LOC123493255 +12 more	Copy number loss	See cases	GLikely benign
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 153176	GRCh38/hg38 4q35.2(chr4:189588653-190036318)	FRG1, FRG1-DT +9 more	Copy number loss	See cases	GPathogenic
Select item 152991	GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	ACSL1, ADAM29 +339 more	Copy number loss	See cases	GPathogenic
Select item 152922	GRCh38/hg38 4q35.2(chr4:186625270-190018185)x1	FAT1, FRG1 +50 more	Copy number loss	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 151757	GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3	LOC132089106, LOC132089107 +282 more	Copy number gain	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	AADAT, ACSL1 +485 more	Copy number loss	See cases	GPathogenic

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