ClinVar for Gene (Select 3660) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363197	NM_002199.4(IRF2):c.363A>G (p.Lys121=)	IRF2, LOC126807242	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 3286509	NM_002199.4(IRF2):c.982C>T (p.Arg328Trp)	IRF2 (R328W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286508	NM_002199.4(IRF2):c.199C>G (p.Pro67Ala)	IRF2, LOC126807242 (P67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286507	NM_002199.4(IRF2):c.199C>T (p.Pro67Ser)	IRF2, LOC126807242 (P67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110836	NM_002199.4(IRF2):c.769A>C (p.Ile257Leu)	IRF2 (I257L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110835	NM_002199.4(IRF2):c.757C>T (p.Arg253Trp)	IRF2 (R253W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110834	NM_002199.4(IRF2):c.588G>A (p.Pro196=)	IRF2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3110833	NM_002199.4(IRF2):c.515C>T (p.Thr172Met)	IRF2 (T172M)	Single nucleotide variant (missense variant)	not specified	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 3062802	GRCh37/hg19 4q35.1(chr4:185160596-186000108)x1	ACSL1, CASP3 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3062801	GRCh37/hg19 4q35.1(chr4:184752570-186308447)x3	ACSL1, CASP3 +10 more	Copy number gain	not specified	GUncertain significance
Select item 3062775	GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1	ACSL1, ADAM29 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062773	GRCh37/hg19 4q35.1(chr4:184577681-186368031)x3	ACSL1, ANKRD37 +16 more	Copy number gain	not specified	GUncertain significance
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	ENPP6, F11 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
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 2547750	NM_002199.4(IRF2):c.895G>C (p.Val299Leu)	IRF2 (V299L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464266	NM_002199.4(IRF2):c.841G>A (p.Val281Ile)	IRF2 (V281I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356745	NM_002199.4(IRF2):c.947C>T (p.Ser316Phe)	IRF2 (S316F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352118	NM_002199.4(IRF2):c.523A>T (p.Ile175Phe)	IRF2 (I175F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329626	NM_002199.4(IRF2):c.790A>T (p.Ser264Cys)	IRF2 (S264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255140	NM_002199.4(IRF2):c.200C>G (p.Pro67Arg)	IRF2, LOC126807242 (P67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243337	NM_002199.4(IRF2):c.980A>T (p.Asp327Val)	IRF2 (D327V)	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	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
Select item 1527139	GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473)	ACSL1, ADAM29 +46 more	Copy number gain	not specified	GPathogenic
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
Select item 997081	GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678)	CFAP96, CFAP97 +36 more	Copy number loss	Atypical behavior +1 more	GLikely pathogenic
Select item 814639	GRCh37/hg19 4q35.1(chr4:185211828-185748806)x3	ACSL1, CASP3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 814638	GRCh37/hg19 4q35.1(chr4:184695117-185817439)x3	ENPP6, ACSL1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 814637	GRCh37/hg19 4q34.3-35.2(chr4:179752903-187987047)x3	ACSL1, ANKRD37 +32 more	Copy number gain	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	SCRG1, SH3RF1 +79 more	Copy number loss	not provided	GPathogenic
Select item 809725	GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1	MTNR1A, PDLIM3 +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 785109	NM_002199.4(IRF2):c.705G>A (p.Thr235=)	IRF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708814	NM_002199.4(IRF2):c.909C>T (p.Ser303=)	IRF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 686652	GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3	AADAT, ACSL1 +65 more	Copy number gain	not provided	GPathogenic
Select item 685560	GRCh37/hg19 4q34.2-35.2(chr4:177189906-190816266)x1	ACSL1, AGA +40 more	Copy number loss	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 685014	GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1	AADAT, ACSL1 +70 more	Copy number loss	not provided	GPathogenic
Select item 684987	GRCh37/hg19 4q35.1(chr4:183712263-185501647)x1	CDKN2AIP, CLDN22 +10 more	Copy number loss	not provided	GUncertain significance
Select item 684986	GRCh37/hg19 4q35.1(chr4:183712263-185501647)x1	CDKN2AIP, CLDN22 +10 more	Copy number loss	not provided	GUncertain significance
Select item 625785	GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545)	CLDN22, FAM149A +48 more	Copy number loss	not provided	GPathogenic
Select item 625665	GRCh37/hg19 4q33-35.2(chr4:171663620-190431429)	RWDD4, SAP30 +54 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	AADAT, ACSL1 +92 more	Copy number gain	not provided	GPathogenic
Select item 560041	Single allele	ANKRD37, ACSL1 +43 more	Deletion	not provided	GPathogenic
Select item 522889	NM_002199.4(IRF2):c.88_89del (p.Glu30fs)	IRF2 (E30fs)	Deletion (frameshift variant)	not provided	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 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441943	GRCh37/hg19 4q35.1(chr4:184870144-186592638)x3	ACSL1, ANKRD37 +16 more	Copy number gain	See cases	GLikely benign
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
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	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 394376	GRCh37/hg19 4q35.1-35.2(chr4:185253508-190713591)x1	LRP2BP, TRIML1 +24 more	Copy number loss	See cases	GPathogenic
Select item 394092	GRCh37/hg19 4q35.1(chr4:183959053-186858555)x3	ACSL1, ANKRD37 +23 more	Copy number gain	See cases	GUncertain significance
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253508	GRCh37/hg19 4q34.1-35.2(chr4:176270886-190713650)x1	ACSL1, AGA +43 more	Copy number loss	See cases	GPathogenic
Select item 253406	GRCh37/hg19 4q34.3-35.2(chr4:178243625-190713650)x1	ACSL1, AGA +37 more	Copy number loss	See cases	GPathogenic
Select item 161066	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 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 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	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 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC126807230, LOC126807231 +383 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 154943	GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	WWC2, WWC2-AS1 +274 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 154160	GRCh38/hg38 4q34.3-35.1(chr4:181762338-185175891)x1	CFAP97, ACSL1 +148 more	Copy number loss	See cases	GUncertain significance
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 153318	GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4	ACSL1, ANKRD37 +223 more	Copy number gain	See cases	GLikely pathogenic
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 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	LOC129993424, LOC129993425 +485 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 149694	GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1	ACSL1, ANKRD37 +241 more	Copy number loss	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	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 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	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

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