IRF2BP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932930, LOC129932931 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932702, LOC129932703 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	ABCB10, ACBD3 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC129932675, LOC129932676 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	ADSS2, AGT +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	ABCB10, ACBD3 +949 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	ABCB10, ACBD3 +869 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	OR2T27, OR2T29 +655 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	LOC126806063, LOC126806064 +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 1707457	Single allele	LOC129388781, LOC129932784 +123 more	Duplication	not specified	GUncertain significance
Select item 2577840	NC_000001.11:g.(233502994_233518999)_(236093155_236105019)del	ARID4B, B3GALNT2 +162 more	Deletion	Immunodeficiency, common variable, 14	GPathogenic
Select item 155546	GRCh38/hg38 1q42.2-42.3(chr1:234147274-235184361)x1	ARID4B, COA6 +98 more	Copy number loss	See cases	GUncertain significance
Select item 2105182	NM_182972.3(IRF2BP2):c.1764A>G (p.Ter588Trp)	IRF2BP2	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2094710	NM_182972.3(IRF2BP2):c.1761G>C (p.Ser587=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1896435	NM_182972.3(IRF2BP2):c.1761G>A (p.Ser587=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1353983	NM_182972.3(IRF2BP2):c.1759_1760del (p.Ser587fs)	IRF2BP2 (S587fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2578030	NM_182972.3(IRF2BP2):c.1754_1757del (p.Arg585fs)	IRF2BP2 (R569fs +1 more)	Microsatellite (frameshift variant)	Varicella, severe recurrent	GUncertain significance
Select item 1721726	NM_182972.3(IRF2BP2):c.1756G>A (p.Asp586Asn)	IRF2BP2 (D570N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431892	NM_182972.3(IRF2BP2):c.1727C>T (p.Ala576Val)	IRF2BP2 (A560V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 14	GUncertain significance
Select item 1636180	NM_182972.3(IRF2BP2):c.1710A>G (p.Glu570=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183121	NM_182972.3(IRF2BP2):c.1698T>C (p.Phe566=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1576912	NM_182972.3(IRF2BP2):c.1695C>T (p.Ala565=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1040332	NM_182972.3(IRF2BP2):c.1688C>T (p.Pro563Leu)	IRF2BP2 (P563L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833788	NM_182972.3(IRF2BP2):c.1687C>A (p.Pro563Thr)	IRF2BP2 (P547T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008605	NM_182972.3(IRF2BP2):c.1686C>T (p.Val562=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889860	NM_182972.3(IRF2BP2):c.1686C>A (p.Val562=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888458	NM_182972.3(IRF2BP2):c.1682A>T (p.Asn561Ile)	IRF2BP2 (N545I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977825	NM_182972.3(IRF2BP2):c.1682A>G (p.Asn561Ser)	IRF2BP2 (N561S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2714038	NM_182972.3(IRF2BP2):c.1681A>G (p.Asn561Asp)	IRF2BP2 (N561D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995085	NM_182972.3(IRF2BP2):c.1677C>T (p.Gly559=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1521411	NM_182972.3(IRF2BP2):c.1673T>A (p.Val558Glu)	IRF2BP2 (V558E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162173	NM_182972.3(IRF2BP2):c.1672G>T (p.Val558Leu)	IRF2BP2 (V542L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2104574	NM_182972.3(IRF2BP2):c.1672G>C (p.Val558Leu)	IRF2BP2 (V542L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1519919	NM_182972.3(IRF2BP2):c.1672G>A (p.Val558Met)	IRF2BP2 (V558M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1575275	NM_182972.3(IRF2BP2):c.1656G>A (p.Gly552=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 446216	NM_182972.3(IRF2BP2):c.1652G>A (p.Ser551Asn)	IRF2BP2 (S551N +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 14	GPathogenic
Select item 2741321	NM_182972.3(IRF2BP2):c.1645T>C (p.Cys549Arg)	IRF2BP2 (C549R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2028743	NM_182972.3(IRF2BP2):c.1644T>G (p.Tyr548Ter)	IRF2BP2 (Y532* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2093280	NM_182972.3(IRF2BP2):c.1643A>G (p.Tyr548Cys)	IRF2BP2 (Y532C +1 more)	Single nucleotide variant (missense variant)	IRF2BP2-related condition +1 more	GUncertain significance
Select item 1627246	NM_182972.3(IRF2BP2):c.1641C>G (p.Val547=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724518	NM_182972.3(IRF2BP2):c.1637_1638dup (p.Val547fs)	IRF2BP2 (V531fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1386619	NM_182972.3(IRF2BP2):c.1639G>A (p.Val547Ile)	IRF2BP2 (V531I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1562661	NM_182972.3(IRF2BP2):c.1632T>C (p.Ser544=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976358	NM_182972.3(IRF2BP2):c.1628C>G (p.Ala543Gly)	IRF2BP2 (A527G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979126	NM_182972.3(IRF2BP2):c.1627G>A (p.Ala543Thr)	IRF2BP2 (A527T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904097	NM_182972.3(IRF2BP2):c.1626A>C (p.Gly542=)	IRF2BP2	Single nucleotide variant (synonymous variant)	IRF2BP2-related condition +1 more	GLikely benign
Select item 1507560	NM_182972.3(IRF2BP2):c.1618_1621dup (p.Gln541fs)	IRF2BP2 (Q541fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 932654	NM_182972.3(IRF2BP2):c.1621C>T (p.Gln541Ter)	IRF2BP2 (Q525* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2007232	NM_182972.3(IRF2BP2):c.1618C>T (p.Gln540Ter)	IRF2BP2 (Q540* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2831074	NM_182972.3(IRF2BP2):c.1609dup (p.Ser537fs)	IRF2BP2 (S521fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2432866	NM_182972.3(IRF2BP2):c.1606C>T (p.Gln536Ter)	IRF2BP2 (Q520* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 14	GUncertain significance
Select item 1370879	NM_182972.3(IRF2BP2):c.1606C>G (p.Gln536Glu)	IRF2BP2 (Q520E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1402293	NM_182972.3(IRF2BP2):c.1604G>A (p.Arg535Lys)	IRF2BP2 (R519K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1508493	NM_182972.3(IRF2BP2):c.1601C>G (p.Ser534Cys)	IRF2BP2 (S534C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1662468	NM_182972.3(IRF2BP2):c.1599C>T (p.Cys533=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027150	NM_182972.3(IRF2BP2):c.1588T>C (p.Cys530Arg)	IRF2BP2 (C514R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853328	NM_182972.3(IRF2BP2):c.1587C>G (p.Phe529Leu)	IRF2BP2 (F529L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473951	NM_182972.3(IRF2BP2):c.1573C>T (p.Pro525Ser)	IRF2BP2 (P509S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1633423	NM_182972.3(IRF2BP2):c.1569C>T (p.Ser523=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2112200	NM_182972.3(IRF2BP2):c.1566G>C (p.Pro522=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1664759	NM_182972.3(IRF2BP2):c.1566G>A (p.Pro522=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2298560	NM_182972.3(IRF2BP2):c.1556T>C (p.Val519Ala)	IRF2BP2 (V519A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2011682	NM_182972.3(IRF2BP2):c.1555G>T (p.Val519Leu)	IRF2BP2 (V519L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900699	NM_182972.3(IRF2BP2):c.1548C>G (p.Thr516=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167902	NM_182972.3(IRF2BP2):c.1542G>A (p.Glu514=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026368	NM_182972.3(IRF2BP2):c.1535G>A (p.Arg512Gln)	IRF2BP2 (R496Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976297	NM_182972.3(IRF2BP2):c.1534C>T (p.Arg512Trp)	IRF2BP2 (R512W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1588494	NM_182972.3(IRF2BP2):c.1534C>A (p.Arg512=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187232	NM_182972.3(IRF2BP2):c.1530C>T (p.His510=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1562691	NM_182972.3(IRF2BP2):c.1524C>T (p.Leu508=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1550681	NM_182972.3(IRF2BP2):c.1521C>T (p.Thr507=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2585532	NM_182972.3(IRF2BP2):c.1520C>T (p.Thr507Ile)	IRF2BP2 (T491I +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 14	GUncertain significance
Select item 2415722	NM_182972.3(IRF2BP2):c.1513T>G (p.Cys505Gly)	IRF2BP2 (C489G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192436	NM_182972.3(IRF2BP2):c.1510C>T (p.Leu504=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2983923	NM_182972.3(IRF2BP2):c.1491_1508dup (p.Leu504_Cys505insAlaThrSerAlaProLeu)	IRF2BP2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2770820	NM_182972.3(IRF2BP2):c.1507C>T (p.Pro503Ser)	IRF2BP2 (P487S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1650823	NM_182972.3(IRF2BP2):c.1506C>G (p.Ala502=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1420488	NM_182972.3(IRF2BP2):c.1504G>T (p.Ala502Ser)	IRF2BP2 (A502S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799938	NM_182972.3(IRF2BP2):c.1502G>T (p.Ser501Ile)	IRF2BP2 (S485I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2621460	NM_182972.3(IRF2BP2):c.1498A>G (p.Thr500Ala)	IRF2BP2 (T484A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2843632	NM_182972.3(IRF2BP2):c.1487C>G (p.Ser496Cys)	IRF2BP2 (S480C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978719	NM_182972.3(IRF2BP2):c.1485C>T (p.Asp495=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795864	NM_182972.3(IRF2BP2):c.1481C>T (p.Pro494Leu)	IRF2BP2 (P478L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988907	NM_182972.3(IRF2BP2):c.1476C>T (p.Ser492=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1092304	NM_182972.3(IRF2BP2):c.1473C>T (p.Ala491=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890777	NM_182972.3(IRF2BP2):c.1467C>T (p.His489=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805583	NM_182972.3(IRF2BP2):c.1462G>C (p.Val488Leu)	IRF2BP2 (V472L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382499	NM_182972.3(IRF2BP2):c.1460C>T (p.Pro487Leu)	IRF2BP2 (P487L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005526	NM_182972.3(IRF2BP2):c.1459C>T (p.Pro487Ser)	IRF2BP2 (P471S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898943	NM_182972.3(IRF2BP2):c.1439G>A (p.Gly480Asp)	IRF2BP2 (G480D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958076	NM_182972.3(IRF2BP2):c.1420G>A (p.Val474Met)	IRF2BP2 (V458M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1614839	NM_182972.3(IRF2BP2):c.1416A>G (p.Arg472=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754060	NM_182972.3(IRF2BP2):c.1411C>G (p.Pro471Ala)	IRF2BP2 (P455A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 402981	NM_182972.3(IRF2BP2):c.1410C>T (p.Gly470=)	IRF2BP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1500329	NM_182972.3(IRF2BP2):c.1390A>G (p.Met464Val)	IRF2BP2 (M448V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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