Related gene-specific medical variations for Gene (Select 64207) - ClinVar

Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362414	NM_024496.4(IRF2BPL):c.1912C>T (p.His638Tyr)	IRF2BPL (H638Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 3362274	NM_024496.4(IRF2BPL):c.2028C>G (p.Asn676Lys)	IRF2BPL (N676K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GPathogenic
Select item 3360660	NM_024496.4(IRF2BPL):c.1852C>A (p.Gln618Lys)	IRF2BPL (Q618K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360365	NM_024496.4(IRF2BPL):c.1858G>A (p.Gly620Ser)	IRF2BPL (G620S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359041	NM_024496.4(IRF2BPL):c.280_308del (p.Ala94fs)	IRF2BPL (A94fs)	Deletion (non-coding transcript variant +1 more)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GPathogenic
Select item 3352962	NM_024496.4(IRF2BPL):c.174G>A (p.Lys58=)	IRF2BPL, LOC107984638	Single nucleotide variant (non-coding transcript variant +1 more)	IRF2BPL-related disorder	GLikely benign
Select item 3342265	NM_024496.4(IRF2BPL):c.202_272del (p.Arg68fs)	IRF2BPL, LOC107984638 (R68fs)	Deletion (non-coding transcript variant +1 more)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GLikely pathogenic
Select item 3340757	NM_024496.4(IRF2BPL):c.296C>G (p.Ala99Gly)	IRF2BPL, LOC107984638 (A99G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3257060	NM_024496.4(IRF2BPL):c.303C>T (p.Ala101=)	LOC107984638, IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3257059	NM_024496.4(IRF2BPL):c.279A>C (p.Ala93=)	IRF2BPL, LOC107984638	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3257058	NM_024496.4(IRF2BPL):c.288G>T (p.Ala96=)	IRF2BPL, LOC107984638	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3252677	NM_024496.4(IRF2BPL):c.98C>G (p.Pro33Arg)	IRF2BPL, LOC107984638 (P33R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251965	NM_024496.4(IRF2BPL):c.320_321insGC (p.Gln108fs)	IRF2BPL, LOC107984638 (Q108fs)	Insertion (frameshift variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GLikely pathogenic
Select item 3250635	NM_024496.4(IRF2BPL):c.279AGC[1] (p.Ala102del)	IRF2BPL, LOC107984638 (A102del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 3110854	NM_024496.4(IRF2BPL):c.160G>A (p.Ala54Thr)	IRF2BPL, LOC107984638 (A54T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065523	NM_024496.4(IRF2BPL):c.361C>T (p.Gln121Ter)	IRF2BPL (Q121*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GLikely pathogenic
Select item 3053674	NM_024496.4(IRF2BPL):c.226G>A (p.Val76Ile)	IRF2BPL, LOC107984638 (V76I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3050461	NM_024496.4(IRF2BPL):c.48G>C (p.Leu16=)	IRF2BPL, LOC107984638	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 3047526	NM_024496.4(IRF2BPL):c.79A>C (p.Ile27Leu)	IRF2BPL, LOC107984638 (I27L)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder	GLikely benign
Select item 3039890	NM_024496.4(IRF2BPL):c.46C>T (p.Leu16=)	IRF2BPL, LOC107984638	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 3026140	NM_024496.4(IRF2BPL):c.90C>T (p.Phe30=)	IRF2BPL, LOC107984638	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024700	NM_024496.4(IRF2BPL):c.264GGC[8] (p.Ala102_Gln103insAlaAlaAla)	IRF2BPL, LOC107984638	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2689257	NM_024496.4(IRF2BPL):c.1058C>T (p.Ala353Val)	IRF2BPL (A353V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 2664080	NM_024496.4(IRF2BPL):c.294_325del (p.Gln103fs)	IRF2BPL, LOC107984638 (Q103fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GPathogenic
Select item 2644424	NM_024496.4(IRF2BPL):c.6G>C (p.Ser2=)	IRF2BPL, LOC107984638	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644423	NM_024496.4(IRF2BPL):c.178G>A (p.Ala60Thr)	IRF2BPL, LOC107984638 (A60T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644422	NM_024496.4(IRF2BPL):c.279A>G (p.Ala93=)	IRF2BPL, LOC107984638	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644421	NM_024496.4(IRF2BPL):c.282A>G (p.Ala94=)	IRF2BPL, LOC107984638	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2644420	NM_024496.4(IRF2BPL):c.291_325del (p.Gln103fs)	IRF2BPL, LOC107984638 (Q103fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2588874	NM_024496.4(IRF2BPL):c.5C>T (p.Ser2Leu)	IRF2BPL, LOC107984638 (S2L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574994	NM_024496.4(IRF2BPL):c.244G>A (p.Ala82Thr)	IRF2BPL, LOC107984638 (A82T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574852	NM_024496.4(IRF2BPL):c.64_72del (p.Met22_Trp24del)	IRF2BPL, LOC107984638	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2572544	NM_024496.4(IRF2BPL):c.305_306insA (p.Gln103fs)	IRF2BPL, LOC107984638 (Q103fs)	Insertion (frameshift variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GLikely pathogenic
Select item 2504960	NM_024496.4(IRF2BPL):c.158C>T (p.Thr53Ile)	IRF2BPL, LOC107984638 (T53I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432874	NM_024496.4(IRF2BPL):c.1769G>T (p.Gly590Val)	IRF2BPL (G590V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 2432873	NM_024496.4(IRF2BPL):c.781C>G (p.Leu261Val)	IRF2BPL (L261V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 2432871	NM_024496.4(IRF2BPL):c.1807C>G (p.Leu603Val)	IRF2BPL (L603V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 2432870	NM_024496.4(IRF2BPL):c.54C>G (p.Asp18Glu)	IRF2BPL, LOC107984638 (D18E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 2432868	NM_024496.4(IRF2BPL):c.264GGC[3] (p.Ala101_Ala102del)	IRF2BPL, LOC107984638	Microsatellite (inframe_deletion)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 2432867	NM_024496.4(IRF2BPL):c.434G>A (p.Gly145Asp)	IRF2BPL (G145D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 2430009	NM_024496.4(IRF2BPL):c.1846del (p.Ala616fs)	IRF2BPL (A616fs)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 2429014	NM_024496.4(IRF2BPL):c.-338C>T	IRF2BPL, LOC107984638 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2354868	NM_024496.4(IRF2BPL):c.280G>A (p.Ala94Thr)	IRF2BPL, LOC107984638 (A94T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311694	NM_024496.4(IRF2BPL):c.199G>C (p.Gly67Arg)	IRF2BPL, LOC107984638 (G67R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807567	NM_024496.4(IRF2BPL):c.273_307del (p.Ala92fs)	IRF2BPL, LOC107984638 (A92fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GPathogenic
Select item 1807566	NM_024496.4(IRF2BPL):c.1157C>T (p.Thr386Met)	IRF2BPL (T386M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GLikely pathogenic
Select item 1807565	NM_024496.4(IRF2BPL):c.1171C>T (p.Arg391Cys)	IRF2BPL (R391C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GLikely pathogenic
Select item 1805972	NM_024496.4(IRF2BPL):c.109G>A (p.Gly37Ser)	IRF2BPL, LOC107984638 (G37S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 1708706	NM_024496.4(IRF2BPL):c.288_319del (p.Ala97fs)	IRF2BPL, LOC107984638 (A97fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1704712	NM_024496.4(IRF2BPL):c.14A>G (p.Gln5Arg)	IRF2BPL, LOC107984638 (Q5R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704182	NM_024496.4(IRF2BPL):c.89T>C (p.Phe30Ser)	IRF2BPL, LOC107984638 (F30S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697068	NM_024496.4(IRF2BPL):c.116T>C (p.Val39Ala)	IRF2BPL, LOC107984638 (V39A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690938	NM_024496.4(IRF2BPL):c.287C>G (p.Ala96Gly)	IRF2BPL, LOC107984638 (A96G)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1676565	NM_024496.4(IRF2BPL):c.1922A>C (p.Lys641Thr)	IRF2BPL (K641T)	Single nucleotide variant	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GLikely pathogenic
Select item 1675545	NM_024496.4(IRF2BPL):c.321_323del (p.Gln127del)	IRF2BPL, LOC107984638 (Q127del)	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1344992	NM_024496.4(IRF2BPL):c.208C>A (p.Pro70Thr)	IRF2BPL, LOC107984638 (P70T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342517	NM_024496.4(IRF2BPL):c.462CGC[5] (p.Ala161_Ala164del)	IRF2BPL	Microsatellite (inframe_deletion)	Developmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 1342356	NM_024496.4(IRF2BPL):c.863C>A (p.Ala288Asp)	IRF2BPL (A288D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 1342331	NM_024496.4(IRF2BPL):c.345_377del (p.Gln117_Gln127del)	IRF2BPL	Deletion (inframe_deletion)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 1329661	NM_024496.4(IRF2BPL):c.285_325del (p.Ala101fs)	IRF2BPL, LOC107984638 (A101fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1313223	NM_024496.4(IRF2BPL):c.222_225delinsT (p.Pro75del)	IRF2BPL, LOC107984638 (P75del)	Indel (inframe_deletion)	not provided	GUncertain significance
Select item 1311160	NM_024496.4(IRF2BPL):c.248T>A (p.Leu83Gln)	IRF2BPL, LOC107984638 (L83Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309883	NM_024496.4(IRF2BPL):c.74C>A (p.Ala25Asp)	IRF2BPL, LOC107984638 (A25D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298591	NM_024496.4(IRF2BPL):c.285_313del (p.Ala96fs)	IRF2BPL, LOC107984638 (A96fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1275160	NM_024496.4(IRF2BPL):c.321A>G (p.Gln107=)	IRF2BPL, LOC107984638	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1213704	NM_024496.4(IRF2BPL):c.683G>T (p.Arg228Leu)	IRF2BPL (R228L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 1202816	NM_024496.4(IRF2BPL):c.291_322del (p.Gln103fs)	IRF2BPL, LOC107984638 (Q103fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1183445	NM_024496.4(IRF2BPL):c.261A>G (p.Glu87=)	IRF2BPL, LOC107984638	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1098624	NM_024496.4(IRF2BPL):c.456C>G (p.Ser152Arg)	IRF2BPL (S152R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 1029897	NM_024496.4(IRF2BPL):c.313C>T (p.Gln105Ter)	IRF2BPL, LOC107984638 (Q105*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 1029893	NM_024496.4(IRF2BPL):c.1283G>A (p.Gly428Asp)	IRF2BPL (G428D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 987251	NM_024496.4(IRF2BPL):c.581_599del (p.Gly194fs)	IRF2BPL (G194fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 986811	NM_024496.4(IRF2BPL):c.283_320del (p.Ala95fs)	IRF2BPL, LOC107984638 (A95fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 986391	NM_024496.4(IRF2BPL):c.240_243del (p.Val81fs)	IRF2BPL, LOC107984638 (V81fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GLikely pathogenic
Select item 983393	NM_024496.4(IRF2BPL):c.1553C>T (p.Pro518Leu)	IRF2BPL (P518L)	Single nucleotide variant (missense variant)	Seizure +1 more	GUncertain significance
Select item 977401	NM_024496.4(IRF2BPL):c.136C>G (p.Arg46Gly)	IRF2BPL, LOC107984638 (R46G)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 976859	NM_024496.4(IRF2BPL):c.248_293delinsCCCGG (p.Leu83fs)	IRF2BPL, LOC107984638 (L83fs)	Indel (frameshift variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GPathogenic
Select item 932676	NM_024496.4(IRF2BPL):c.1189T>C (p.Ser397Pro)	IRF2BPL (S397P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807150	NM_024496.4(IRF2BPL):c.355C>T (p.Gln119Ter)	IRF2BPL (Q119*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 692072	NM_024496.4(IRF2BPL):c.285_322del (p.Ala102fs)	IRF2BPL, LOC107984638 (A102fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 599203	IRF2BPL, 2-BP DEL, 2135GT	IRF2BPL	Deletion	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GPathogenic
Select item 564090	GRCh37/hg19 14q24.3(chr14:77453066-77516821)x1	IRF2BPL	Copy number loss	not provided	GUncertain significance

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Links from Gene

Items: 82