IRF7[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 664

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	ANO9, AP2A2 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 3024365	GRCh38/hg38 11p15.5(chr11:313988-723647)	ANO9, B4GALNT4 +59 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 2163470	NM_001572.5(IRF7):c.1507_*40del (p.Ala503fs)	IRF7 (A503fs +2 more)	Deletion (frameshift variant)	Immunodeficiency 39	GUncertain significance
Select item 656818	NC_000011.9:g.(?_612625)_(615384_?)dup	IRF7	Duplication	Immunodeficiency 39	GUncertain significance
Select item 2131432	NM_001572.5(IRF7):c.1508C>T (p.Ala503Val)	IRF7 (A503V +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2168332	NM_001572.5(IRF7):c.1506C>T (p.Pro502=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 2804791	NM_001572.5(IRF7):c.1490T>C (p.Met497Thr)	IRF7 (M497T +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2814945	NM_001572.5(IRF7):c.1479G>C (p.Glu493Asp)	IRF7 (E493D +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2917929	NM_001572.5(IRF7):c.1477G>A (p.Glu493Lys)	IRF7 (E506K +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 1446519	NM_001572.5(IRF7):c.1477G>C (p.Glu493Gln)	IRF7 (E464Q +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 1561854	NM_001572.5(IRF7):c.1476C>T (p.Ile492=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 1513571	NM_001572.5(IRF7):c.1476C>A (p.Ile492=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 935203	NM_001572.5(IRF7):c.1471G>A (p.Asp491Asn)	IRF7 (D491N +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 1673913	NM_001572.5(IRF7):c.1470C>T (p.Asp490=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 1951697	NM_001572.5(IRF7):c.1468G>A (p.Asp490Asn)	IRF7 (D461N +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2115368	NM_001572.5(IRF7):c.1461C>A (p.Ser487Arg)	IRF7 (S458R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 1432117	NM_001572.5(IRF7):c.1453G>A (p.Ala485Thr)	IRF7 (A456T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2068651	NM_001572.5(IRF7):c.1452C>T (p.Ser484=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 1010743	NM_001572.5(IRF7):c.1452C>A (p.Ser484Arg)	IRF7 (S455R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2129641	NM_001572.5(IRF7):c.1444C>T (p.Leu482=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 2113513	NM_001572.5(IRF7):c.1434C>T (p.Leu478=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 2793377	NM_001572.5(IRF7):c.1423A>G (p.Ser475Gly)	IRF7 (S446G +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 1009507	NM_001572.5(IRF7):c.1419G>A (p.Leu473=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GUncertain significance
Select item 1719579	NM_001572.5(IRF7):c.1415C>G (p.Ser472Cys)	IRF7 (S443C +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2743119	NM_001572.5(IRF7):c.1410G>A (p.Val470=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 845349	NM_001572.5(IRF7):c.1406G>A (p.Gly469Asp)	IRF7 (G469D +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 656675	NM_001572.5(IRF7):c.1400G>T (p.Arg467Leu)	IRF7 (R480L +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 3286539	NM_001572.5(IRF7):c.1396C>G (p.Gln466Glu)	IRF7 (Q479E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2908529	NM_001572.5(IRF7):c.1395G>A (p.Thr465=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 1579566	NM_001572.5(IRF7):c.1395G>C (p.Thr465=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 1483208	NM_001572.5(IRF7):c.1394C>T (p.Thr465Met)	IRF7 (T465M +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 643503	NM_001572.5(IRF7):c.1393A>T (p.Thr465Ser)	IRF7 (T436S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1367030	NM_001572.5(IRF7):c.1391G>A (p.Gly464Asp)	IRF7 (G435D +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 640013	NM_001572.5(IRF7):c.1390G>A (p.Gly464Ser)	IRF7 (G435S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1023361	NM_001572.5(IRF7):c.1387G>C (p.Glu463Gln)	IRF7 (E434Q +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 542689	NM_001572.5(IRF7):c.1387G>A (p.Glu463Lys)	IRF7 (E463K +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 1674020	NM_001572.5(IRF7):c.1383C>T (p.His461=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 2701183	NM_001572.5(IRF7):c.1382A>C (p.His461Pro)	IRF7 (H461P +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2776690	NM_001572.5(IRF7):c.1380G>T (p.Val460=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 2741939	NM_001572.5(IRF7):c.1376G>A (p.Arg459Gln)	IRF7 (R472Q +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 1061328	NM_001572.5(IRF7):c.1368G>A (p.Trp456Ter)	IRF7 (W427* +2 more)	Single nucleotide variant (nonsense)	Immunodeficiency 39	GUncertain significance
Select item 1419411	NM_001572.5(IRF7):c.1366T>C (p.Trp456Arg)	IRF7 (W427R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 1514932	NM_001572.5(IRF7):c.1364C>T (p.Pro455Leu)	IRF7 (P455L +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2778675	NM_001572.5(IRF7):c.1360G>A (p.Glu454Lys)	IRF7 (E454K +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2904464	NM_001572.5(IRF7):c.1358T>G (p.Leu453Arg)	IRF7 (L453R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 864571	NM_001572.5(IRF7):c.1357-5G>A	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GUncertain significance
Select item 2821102	NM_001572.5(IRF7):c.1357-7C>T	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign
Select item 1639349	NM_001572.5(IRF7):c.1357-75_1357-14del	IRF7	Deletion (intron variant)	Immunodeficiency 39	GLikely benign
Select item 3009539	NM_001572.5(IRF7):c.1357-15G>A	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign
Select item 1583780	NM_001572.5(IRF7):c.1357-16C>T	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign
Select item 1167491	NM_001572.5(IRF7):c.1357-18C>T	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39 +1 more	GBenign
Select item 2688201	NM_001572.5(IRF7):c.1357-23dup	IRF7	Duplication (intron variant)	not specified	GBenign
Select item 1185462	NM_001572.5(IRF7):c.1357-43A>C	IRF7	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1185463	NM_001572.5(IRF7):c.1356+32T>C	IRF7	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 3016422	NM_001572.5(IRF7):c.1356+19G>T	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign
Select item 1604043	NM_001572.5(IRF7):c.1356+16C>T	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign
Select item 2768106	NM_001572.5(IRF7):c.1356+12G>A	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign
Select item 1399891	NM_001572.5(IRF7):c.1356G>C (p.Lys452Asn)	IRF7 (K423N +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2717339	NM_001572.5(IRF7):c.1350G>A (p.Leu450=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 1046279	NM_001572.5(IRF7):c.1346T>A (p.Val449Asp)	IRF7 (V420D +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 1944582	NM_001572.5(IRF7):c.1338G>A (p.Lys446=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 1356554	NM_001572.5(IRF7):c.1329del (p.Lys444fs)	IRF7 (K415fs +2 more)	Deletion (frameshift variant)	Immunodeficiency 39	GUncertain significance
Select item 1563809	NM_001572.5(IRF7):c.1320T>G (p.Ala440=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 851530	NM_001572.5(IRF7):c.1313T>C (p.Leu438Pro)	IRF7 (L409P +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2190753	NM_001572.5(IRF7):c.1312C>T (p.Leu438=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 1596766	NM_001572.5(IRF7):c.1308G>A (p.Gln436=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 1934335	NM_001572.5(IRF7):c.1303G>A (p.Gly435Arg)	IRF7 (G406R +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 1161478	NM_001572.5(IRF7):c.1302C>T (p.Phe434=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 2844582	NM_001572.5(IRF7):c.1289T>A (p.Ile430Asn)	IRF7 (I443N +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2118950	NM_001572.5(IRF7):c.1286C>G (p.Thr429Ser)	IRF7 (T429S +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2960286	NM_001572.5(IRF7):c.1285A>G (p.Thr429Ala)	IRF7 (T442A +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2169762	NM_001572.5(IRF7):c.1284T>C (p.Tyr428=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 1446734	NM_001572.5(IRF7):c.1280G>A (p.Arg427His)	IRF7 (R398H +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 2864736	NM_001572.5(IRF7):c.1279C>T (p.Arg427Cys)	IRF7 (R440C +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 646477	NM_001572.5(IRF7):c.1276_1277insT (p.Pro426fs)	IRF7 (P397fs +2 more)	Insertion (frameshift variant)	Immunodeficiency 39	GUncertain significance
Select item 1464008	NM_001572.5(IRF7):c.1268G>A (p.Arg423His)	IRF7 (R436H +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 476071	NM_001572.5(IRF7):c.1268G>C (p.Arg423Pro)	IRF7 (R423P +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 1946119	NM_001572.5(IRF7):c.1265G>C (p.Arg422Pro)	IRF7 (R422P +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 1431712	NM_001572.5(IRF7):c.1265G>A (p.Arg422His)	IRF7 (R422H +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 190238	NM_001572.5(IRF7):c.1261C>T (p.Gln421Ter)	IRF7 (Q421* +2 more)	Single nucleotide variant (nonsense)	Immunodeficiency 39	GPathogenic
Select item 971427	NM_001572.5(IRF7):c.1259G>A (p.Arg420Gln)	IRF7 (R391Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1559031	NM_001572.5(IRF7):c.1258C>T (p.Arg420Trp)	IRF7 (R391W +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GLikely benign
Select item 3286537	NM_001572.5(IRF7):c.1256C>T (p.Ala419Val)	IRF7 (A432V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1362998	NM_001572.5(IRF7):c.1255G>A (p.Ala419Thr)	IRF7 (A419T +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 1053300	NM_001572.5(IRF7):c.1253G>A (p.Arg418Gln)	IRF7 (R389Q +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39 +1 more	GUncertain significance
Select item 1520904	NM_001572.5(IRF7):c.1252C>T (p.Arg418Trp)	IRF7 (R431W +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 1627279	NM_001572.5(IRF7):c.1245G>A (p.Val415=)	IRF7	Single nucleotide variant (synonymous variant)	Immunodeficiency 39	GLikely benign
Select item 650234	NM_001572.5(IRF7):c.1243G>A (p.Val415Met)	IRF7 (V386M +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 1468866	NM_001572.5(IRF7):c.1241T>C (p.Leu414Pro)	IRF7 (L427P +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 39	GUncertain significance
Select item 1937134	NM_001572.5(IRF7):c.1238-5T>C	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign
Select item 1055002	NM_001572.5(IRF7):c.1238-6C>G	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign
Select item 1464544	NM_001572.5(IRF7):c.1238-7T>A	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign
Select item 1961205	NM_001572.5(IRF7):c.1238-11C>A	IRF7	Single nucleotide variant (intron variant)	Immunodeficiency 39	GLikely benign

<< First< Prev

Page of 7