IRF2BPL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 2631496	NM_024496.4(IRF2BPL):c.2387C>T (p.Pro796Leu)	IRF2BPL (P796L)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder	GUncertain significance
Select item 2502511	NM_024496.4(IRF2BPL):c.2377_2379del (p.Glu793del)	IRF2BPL (E793del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2554875	NM_024496.4(IRF2BPL):c.2354C>T (p.Ala785Val)	IRF2BPL (A785V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1311192	NM_024496.4(IRF2BPL):c.2345C>T (p.Thr782Ile)	IRF2BPL (T782I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196629	NM_024496.4(IRF2BPL):c.2309A>G (p.Asn770Ser)	IRF2BPL (N770S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3054950	NM_024496.4(IRF2BPL):c.2299G>C (p.Val767Leu)	IRF2BPL (V767L)	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 2644378	NM_024496.4(IRF2BPL):c.2262C>A (p.Gly754=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 872574	NM_024496.4(IRF2BPL):c.2236_2237del (p.Ser746fs)	IRF2BPL (S746fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 3369130	NM_024496.4(IRF2BPL):c.2222C>G (p.Pro741Arg)	IRF2BPL (P741R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644379	NM_024496.4(IRF2BPL):c.2220C>T (p.Phe740=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3369331	NM_024496.4(IRF2BPL):c.2206C>A (p.His736Asn)	IRF2BPL (H736N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978412	NM_024496.4(IRF2BPL):c.2204G>T (p.Ser735Ile)	IRF2BPL (S735I)	Single nucleotide variant (missense variant)	Rare genetic intellectual disability	GUncertain significance
Select item 1284940	NM_024496.4(IRF2BPL):c.2203A>T (p.Ser735Cys)	IRF2BPL (S735C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2432872	NM_024496.4(IRF2BPL):c.2200C>T (p.Pro734Ser)	IRF2BPL (P734S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures +1 more	GUncertain significance
Select item 3365043	NM_024496.4(IRF2BPL):c.2197G>T (p.Val733Phe)	IRF2BPL (V733F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1802624	NM_024496.4(IRF2BPL):c.2160del (p.Glu720fs)	IRF2BPL (E720fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GPathogenic
Select item 522169	NM_024496.4(IRF2BPL):c.2152del (p.Cys718fs)	IRF2BPL (C718fs)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1708484	NM_024496.4(IRF2BPL):c.2136_2137dup (p.Leu713fs)	IRF2BPL (L713fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GLikely pathogenic
Select item 1013049	NM_024496.4(IRF2BPL):c.2138del (p.Leu713fs)	IRF2BPL (L713fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1691661	NM_024496.4(IRF2BPL):c.2137del (p.Leu713fs)	IRF2BPL (L713fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures +1 more	GLikely pathogenic
Select item 976702	NM_024496.4(IRF2BPL):c.2135_2136insGT (p.Leu713fs)	IRF2BPL (L713fs)	Insertion (frameshift variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GPathogenic
Select item 3364802	NM_024496.4(IRF2BPL):c.2123C>G (p.Ala708Gly)	IRF2BPL (A708G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 584452	NM_024496.4(IRF2BPL):c.2122del (p.Ala708fs)	IRF2BPL (A708fs)	Deletion (frameshift variant)	IRF2BPL-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 3342798	NM_024496.4(IRF2BPL):c.2121G>C (p.Met707Ile)	IRF2BPL (M707I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2468235	NM_024496.4(IRF2BPL):c.2117C>T (p.Pro706Leu)	IRF2BPL (P706L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284511	NM_024496.4(IRF2BPL):c.2116_2117delinsT (p.Pro706fs)	IRF2BPL (P706fs)	Indel (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2282985	NM_024496.4(IRF2BPL):c.2116C>T (p.Pro706Ser)	IRF2BPL (P706S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282229	NM_024496.4(IRF2BPL):c.2112T>G (p.Asp704Glu)	IRF2BPL (D704E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1810609	NM_024496.4(IRF2BPL):c.2102del (p.Asn701fs)	IRF2BPL (N701fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 1029896	NM_024496.4(IRF2BPL):c.2096C>A (p.Pro699His)	IRF2BPL (P699H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 3363821	NM_024496.4(IRF2BPL):c.2081T>G (p.Met694Arg)	IRF2BPL (M694R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803488	NM_024496.4(IRF2BPL):c.2044C>T (p.Gln682Ter)	IRF2BPL (Q682*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2628080	NM_024496.4(IRF2BPL):c.2018C>G (p.Ala673Gly)	IRF2BPL (A673G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 1805141	NM_024496.4(IRF2BPL):c.2003G>A (p.Gly668Glu)	IRF2BPL (G668E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 2507564	NM_024496.4(IRF2BPL):c.1996G>A (p.Val666Met)	IRF2BPL (V666M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559176	NM_024496.4(IRF2BPL):c.1991C>T (p.Ala664Val)	IRF2BPL (A664V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286524	NM_024496.4(IRF2BPL):c.1968C>G (p.Asn656Lys)	IRF2BPL (N656K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1708877	NM_024496.4(IRF2BPL):c.1957G>C (p.Ala653Pro)	IRF2BPL (A653P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697141	NM_024496.4(IRF2BPL):c.1949C>G (p.Thr650Ser)	IRF2BPL (T650S)	Single nucleotide variant (missense variant)	not provided	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 916160	NM_024496.4(IRF2BPL):c.1940A>G (p.His647Arg)	IRF2BPL (H647R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635913	NM_024496.4(IRF2BPL):c.1930A>G (p.Ser644Gly)	IRF2BPL (S644G)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder	GUncertain significance
Select item 1029895	NM_024496.4(IRF2BPL):c.1923G>T (p.Lys641Asn)	IRF2BPL (K641N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
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 2307549	NM_024496.4(IRF2BPL):c.1907C>T (p.Thr636Ile)	IRF2BPL (T636I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1712705	NM_024496.4(IRF2BPL):c.1877C>T (p.Ala626Val)	IRF2BPL (A626V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029894	NM_024496.4(IRF2BPL):c.1874C>T (p.Ala625Val)	IRF2BPL (A625V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 2628446	NM_024496.4(IRF2BPL):c.1862C>T (p.Pro621Leu)	IRF2BPL (P621L)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder	GUncertain significance
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 2430009	NM_024496.4(IRF2BPL):c.1846del (p.Ala616fs)	IRF2BPL (A616fs)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic
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 1805985	NM_024496.4(IRF2BPL):c.1829C>G (p.Thr610Ser)	IRF2BPL (T610S)	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 3047272	NM_024496.4(IRF2BPL):c.1801C>T (p.Pro601Ser)	IRF2BPL (P601S)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder	GUncertain significance
Select item 1047920	NM_024496.4(IRF2BPL):c.1799C>T (p.Pro600Leu)	IRF2BPL (P600L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 1013050	NM_024496.4(IRF2BPL):c.1785T>G (p.Gly595=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1676897	NM_024496.4(IRF2BPL):c.1783G>A (p.Gly595Ser)	IRF2BPL (G595S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573789	NM_024496.4(IRF2BPL):c.1765_1779del (p.Pro589_Ala593del)	IRF2BPL	Deletion (inframe_deletion)	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 3050835	NM_024496.4(IRF2BPL):c.1767G>A (p.Pro589=)	IRF2BPL	Single nucleotide variant (synonymous variant)	IRF2BPL-related disorder	GLikely benign
Select item 3344562	NM_024496.4(IRF2BPL):c.1748C>G (p.Ala583Gly)	IRF2BPL (A583G)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder	GUncertain significance
Select item 2446180	NM_024496.4(IRF2BPL):c.1743G>A (p.Met581Ile)	IRF2BPL (M581I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369295	NM_024496.4(IRF2BPL):c.1742T>G (p.Met581Arg)	IRF2BPL (M581R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684813	NM_024496.4(IRF2BPL):c.1739C>T (p.Thr580Ile)	IRF2BPL (T580I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582924	NM_024496.4(IRF2BPL):c.1728G>A (p.Ala576=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636507	NM_024496.4(IRF2BPL):c.1707G>C (p.Trp569Cys)	IRF2BPL (W569C)	Single nucleotide variant (missense variant)	IRF2BPL-related disorder	GUncertain significance
Select item 1047929	NM_024496.4(IRF2BPL):c.1703_1706dup (p.Trp569Ter)	IRF2BPL (W569*)	Duplication (nonsense)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GPathogenic
Select item 1806355	NM_024496.4(IRF2BPL):c.1704G>C (p.Gln568His)	IRF2BPL (Q568H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 3348175	NM_024496.4(IRF2BPL):c.1699C>T (p.Gln567Ter)	IRF2BPL (Q567*)	Single nucleotide variant (nonsense)	IRF2BPL-related disorder	GLikely pathogenic
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 1679285	NM_024496.4(IRF2BPL):c.1693C>T (p.Gln565Ter)	IRF2BPL (Q565*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1314729	NM_024496.4(IRF2BPL):c.1687G>C (p.Glu563Gln)	IRF2BPL (E563Q)	Single nucleotide variant (missense variant)	not provided	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 2431952	NM_024496.4(IRF2BPL):c.1673T>C (p.Leu558Pro)	IRF2BPL (L558P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GUncertain significance
Select item 3257384	NM_024496.4(IRF2BPL):c.1663G>A (p.Glu555Lys)	IRF2BPL (E555K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578722	NM_024496.4(IRF2BPL):c.1656C>T (p.Asp552=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 872575	NM_024496.4(IRF2BPL):c.1648C>T (p.Pro550Ser)	IRF2BPL (P550S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1305274	NM_024496.4(IRF2BPL):c.1631_1632del (p.Arg544fs)	IRF2BPL (R544fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2501943	NM_024496.4(IRF2BPL):c.1627A>T (p.Lys543Ter)	IRF2BPL (K543*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 2516144	NM_024496.4(IRF2BPL):c.1619G>A (p.Ser540Asn)	IRF2BPL (S540N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2217221	NM_024496.4(IRF2BPL):c.1618A>G (p.Ser540Gly)	IRF2BPL (S540G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286519	NM_024496.4(IRF2BPL):c.1610C>G (p.Ala537Gly)	IRF2BPL (A537G)	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 2644382	NM_024496.4(IRF2BPL):c.1578C>T (p.Ala526=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2407919	NM_024496.4(IRF2BPL):c.1561C>T (p.Pro521Ser)	IRF2BPL (P521S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644383	NM_024496.4(IRF2BPL):c.1560A>C (p.Ala520=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3365799	NM_024496.4(IRF2BPL):c.1552C>T (p.Pro518Ser)	IRF2BPL (P518S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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