ClinVar for Gene (Select 64207) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3253331	NM_024496.4(IRF2BPL):c.1625G>T (p.Arg542Leu)	IRF2BPL (R542L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252677	NM_024496.4(IRF2BPL):c.98C>G (p.Pro33Arg)	IRF2BPL (P33R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251965	NM_024496.4(IRF2BPL):c.320_321insGC (p.Gln108fs)	IRF2BPL (Q108fs)	Insertion (frameshift variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GLikely pathogenic
Select item 3250707	NM_024496.4(IRF2BPL):c.1637C>T (p.Ala546Val)	IRF2BPL (A546V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250635	NM_024496.4(IRF2BPL):c.279AGC[1] (p.Ala102del)	IRF2BPL (A102del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 3250605	NM_024496.4(IRF2BPL):c.1834C>T (p.Pro612Ser)	IRF2BPL (P612S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244101	NC_000014.8:g.(?_76173946)_(78082922_?)dup	AHSA1, ANGEL1 +20 more	Duplication	not provided	GUncertain significance
Select item 3239293	NM_024496.4(IRF2BPL):c.992G>A (p.Arg331Lys)	IRF2BPL (R331K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239124	NM_024496.4(IRF2BPL):c.342_371del (p.Gln118_Gln127del)	IRF2BPL	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 3235852	NM_024496.4(IRF2BPL):c.346C>G (p.Gln116Glu)	IRF2BPL (Q116E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235758	NM_024496.4(IRF2BPL):c.1183_1186dup (p.His396fs)	IRF2BPL (H396fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3233643	NM_024496.4(IRF2BPL):c.1695G>C (p.Gln565His)	IRF2BPL (Q565H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110861	NM_024496.4(IRF2BPL):c.947C>T (p.Thr316Ile)	IRF2BPL (T316I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3110860	NM_024496.4(IRF2BPL):c.890C>T (p.Ala297Val)	IRF2BPL (A297V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110859	NM_024496.4(IRF2BPL):c.769C>G (p.Leu257Val)	IRF2BPL (L257V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110858	NM_024496.4(IRF2BPL):c.766C>G (p.Leu256Val)	IRF2BPL (L256V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110857	NM_024496.4(IRF2BPL):c.2288A>G (p.Lys763Arg)	IRF2BPL (K763R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110856	NM_024496.4(IRF2BPL):c.1946C>T (p.Thr649Ile)	IRF2BPL (T649I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110855	NM_024496.4(IRF2BPL):c.1677G>C (p.Lys559Asn)	IRF2BPL (K559N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110854	NM_024496.4(IRF2BPL):c.160G>A (p.Ala54Thr)	IRF2BPL (A54T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110853	NM_024496.4(IRF2BPL):c.1607G>T (p.Gly536Val)	IRF2BPL (G536V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures +1 more	GUncertain significance
Select item 3110852	NM_024496.4(IRF2BPL):c.1486C>T (p.Pro496Ser)	IRF2BPL (P496S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110851	NM_024496.4(IRF2BPL):c.1037A>T (p.Glu346Val)	IRF2BPL (E346V)	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 3058779	NM_024496.4(IRF2BPL):c.2100A>G (p.Gln700=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 3057877	NM_024496.4(IRF2BPL):c.1500G>C (p.Leu500=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 3055038	NM_024496.4(IRF2BPL):c.929C>T (p.Ser310Phe)	IRF2BPL (S310F)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder	GLikely benign
Select item 3054950	NM_024496.4(IRF2BPL):c.2299G>C (p.Val767Leu)	IRF2BPL (V767L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3054398	NM_024496.4(IRF2BPL):c.696C>T (p.His232=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 3054029	NM_024496.4(IRF2BPL):c.672_680del (p.Val225_Ser227del)	IRF2BPL	Deletion (inframe deletion)	IRF2BPL-related disorder	GLikely benign
Select item 3053674	NM_024496.4(IRF2BPL):c.226G>A (p.Val76Ile)	IRF2BPL (V76I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3051046	NM_024496.4(IRF2BPL):c.726G>A (p.Pro242=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 3050835	NM_024496.4(IRF2BPL):c.1767G>A (p.Pro589=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 3050461	NM_024496.4(IRF2BPL):c.48G>C (p.Leu16=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 3050171	NM_024496.4(IRF2BPL):c.1341G>A (p.Lys447=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 3048707	NM_024496.4(IRF2BPL):c.550A>G (p.Ser184Gly)	IRF2BPL (S184G)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder	GLikely benign
Select item 3048310	NM_024496.4(IRF2BPL):c.1506C>T (p.Ala502=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 3047526	NM_024496.4(IRF2BPL):c.79A>C (p.Ile27Leu)	IRF2BPL (I27L)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder	GLikely benign
Select item 3047272	NM_024496.4(IRF2BPL):c.1801C>T (p.Pro601Ser)	IRF2BPL (P601S)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder	GUncertain significance
Select item 3046037	NM_024496.4(IRF2BPL):c.405C>T (p.Ser135=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 3044727	NM_024496.4(IRF2BPL):c.534G>A (p.Val178=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 3039890	NM_024496.4(IRF2BPL):c.46C>T (p.Leu16=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 3037616	NM_024496.4(IRF2BPL):c.489_491del (p.Ala164del)	IRF2BPL (A164del)	Deletion (inframe deletion)	IRF2BPL-related disorder	GBenign
Select item 3026958	NM_024496.4(IRF2BPL):c.1508G>A (p.Ser503Asn)	IRF2BPL (S503N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026140	NM_024496.4(IRF2BPL):c.90C>T (p.Phe30=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3024700	NM_024496.4(IRF2BPL):c.264GGC[8] (p.Ala102_Gln103insAlaAlaAla)	IRF2BPL	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2761001	NM_024496.4(IRF2BPL):c.387C>G (p.Asn129Lys)	IRF2BPL (N129K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689258	NM_024496.4(IRF2BPL):c.489_491dup (p.Ala164_Val165insAla)	IRF2BPL	Duplication (inframe_insertion)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures +1 more	GUncertain significance
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 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2672562	NM_024496.4(IRF2BPL):c.957G>A (p.Ser319=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664080	NM_024496.4(IRF2BPL):c.294_325del (p.Gln103fs)	IRF2BPL (Q103fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GPathogenic
Select item 2662337	NM_024496.4(IRF2BPL):c.658T>G (p.Ser220Ala)	IRF2BPL (S220A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644424	NM_024496.4(IRF2BPL):c.6G>C (p.Ser2=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder +1 more	GLikely benign
Select item 2644423	NM_024496.4(IRF2BPL):c.178G>A (p.Ala60Thr)	IRF2BPL (A60T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644422	NM_024496.4(IRF2BPL):c.279A>G (p.Ala93=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644421	NM_024496.4(IRF2BPL):c.282A>G (p.Ala94=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2644420	NM_024496.4(IRF2BPL):c.291_325del (p.Gln103fs)	IRF2BPL (Q103fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2644419	NM_024496.4(IRF2BPL):c.336G>A (p.Gln112=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644418	NM_024496.4(IRF2BPL):c.324GCA[7] (p.Gln127_Leu128insGln)	IRF2BPL	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2644417	NM_024496.4(IRF2BPL):c.342_350del (p.Gln125_Gln127del)	IRF2BPL	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2644416	NM_024496.4(IRF2BPL):c.350_351insACA (p.Gln127_Leu128insGln)	IRF2BPL	Insertion (inframe_insertion)	not provided	GLikely benign
Select item 2644415	NM_024496.4(IRF2BPL):c.354G>A (p.Gln118=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644414	NM_024496.4(IRF2BPL):c.357G>A (p.Gln119=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644413	NM_024496.4(IRF2BPL):c.363G>A (p.Gln121=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644412	NM_024496.4(IRF2BPL):c.366G>A (p.Gln122=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644411	NM_024496.4(IRF2BPL):c.368_369insACAGCAGCAGCAGCAGCAGCA (p.Gln127_Leu128insGlnGlnGlnGlnGlnGlnGln)	IRF2BPL	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 2644410	NM_024496.4(IRF2BPL):c.345GCA[5] (p.Gln123_Gln127del)	IRF2BPL	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2644409	NM_024496.4(IRF2BPL):c.345GCA[7] (p.Gln125_Gln127del)	IRF2BPL	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 2644408	NM_024496.4(IRF2BPL):c.375A>G (p.Gln125=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644407	NM_024496.4(IRF2BPL):c.372_377del (p.Gln126_Gln127del)	IRF2BPL	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2644406	NM_024496.4(IRF2BPL):c.402C>T (p.Ser134=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644405	NM_024496.4(IRF2BPL):c.411T>G (p.Pro137=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644404	NM_024496.4(IRF2BPL):c.447C>T (p.Tyr149=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644403	NM_024496.4(IRF2BPL):c.459T>C (p.Ala153=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644402	NM_024496.4(IRF2BPL):c.459_470dup (p.Ala164_Val165insAlaAlaAlaAla)	IRF2BPL	Duplication (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 2644401	NM_024496.4(IRF2BPL):c.462CGC[7] (p.Ala163_Ala164del)	IRF2BPL	Microsatellite (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 2644400	NM_024496.4(IRF2BPL):c.462CGC[10] (p.Ala164_Val165insAla)	IRF2BPL	Microsatellite (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 2644399	NM_024496.4(IRF2BPL):c.483_491del (p.Ala162_Ala164del)	IRF2BPL	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2644398	NM_024496.4(IRF2BPL):c.507C>T (p.Ser169=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644397	NM_024496.4(IRF2BPL):c.531G>A (p.Pro177=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644396	NM_024496.4(IRF2BPL):c.591C>T (p.Asn197=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644395	NM_024496.4(IRF2BPL):c.819A>C (p.Pro273=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644394	NM_024496.4(IRF2BPL):c.873G>A (p.Gly291=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2644393	NM_024496.4(IRF2BPL):c.876T>C (p.Ala292=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder +1 more	GLikely benign
Select item 2644392	NM_024496.4(IRF2BPL):c.1050C>A (p.Asn350Lys)	IRF2BPL (N350K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644391	NM_024496.4(IRF2BPL):c.1059C>T (p.Ala353=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644390	NM_024496.4(IRF2BPL):c.1173C>G (p.Arg391=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644389	NM_024496.4(IRF2BPL):c.1362C>T (p.Ser454=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644388	NM_024496.4(IRF2BPL):c.1365G>A (p.Ser455=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644387	NM_024496.4(IRF2BPL):c.1393A>C (p.Lys465Gln)	IRF2BPL (K465Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644386	NM_024496.4(IRF2BPL):c.1417C>T (p.Leu473=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644385	NM_024496.4(IRF2BPL):c.1494C>G (p.Pro498=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644384	NM_024496.4(IRF2BPL):c.1550C>T (p.Ala517Val)	IRF2BPL (A517V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2644383	NM_024496.4(IRF2BPL):c.1560A>C (p.Ala520=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644382	NM_024496.4(IRF2BPL):c.1578C>T (p.Ala526=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644381	NM_024496.4(IRF2BPL):c.1850C>G (p.Pro617Arg)	IRF2BPL (P617R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644380	NM_024496.4(IRF2BPL):c.1905C>T (p.Gly635=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644379	NM_024496.4(IRF2BPL):c.2220C>T (p.Phe740=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644378	NM_024496.4(IRF2BPL):c.2262C>A (p.Gly754=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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