5970[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152640	GRCh38/hg38 11q13.1(chr11:65520831-65695349)x3	EHBP1L1, FAM89B +45 more	Copy number gain	See cases	GUncertain significance
Select item 2106940	NM_021975.4(RELA):c.1655A>G (p.Ter552=)	RELA	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 730838	NM_021975.4(RELA):c.1653C>T (p.Ser551=)	RELA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2859368	NM_021975.4(RELA):c.1645A>T (p.Ile549Phe)	RELA (I446F +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981409	NM_021975.4(RELA):c.1644G>A (p.Gln548=)	RELA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1176904	NM_021975.4(RELA):c.1633C>T (p.Leu545=)	RELA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811307	NM_021975.4(RELA):c.1626C>A (p.Phe542Leu)	RELA (F436L +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900903	NM_021975.4(RELA):c.1618A>G (p.Met540Val)	RELA (M413V +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1015419	NM_021975.4(RELA):c.1613C>T (p.Ala538Val)	RELA (A435V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2604466	NM_021975.4(RELA):c.1612G>A (p.Ala538Thr)	RELA (A507T +9 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2920376	NM_021975.4(RELA):c.1609A>G (p.Ile537Val)	RELA (I410V +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830170	NM_021975.4(RELA):c.1608C>T (p.Ser536=)	RELA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071606	NM_021975.4(RELA):c.1603TCC[1] (p.Ser536del)	RELA (S409del +9 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2555080	NM_021975.4(RELA):c.1607C>G (p.Ser536Cys)	RELA (S505C +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2917741	NM_021975.4(RELA):c.1596A>T (p.Glu532Asp)	RELA (E532D +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1623327	NM_021975.4(RELA):c.1587A>G (p.Ser529=)	RELA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571769	NM_021975.4(RELA):c.1582C>A (p.Leu528Ile)	RELA (L425I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2125141	NM_021975.4(RELA):c.1581C>T (p.Leu527=)	RELA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902841	NM_021975.4(RELA):c.1574A>G (p.Asn525Ser)	RELA (N422S +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082499	NM_021975.4(RELA):c.1563G>A (p.Pro521=)	RELA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017827	NM_021975.4(RELA):c.1552C>T (p.Leu518=)	RELA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2575942	NM_021975.4(RELA):c.1541C>G (p.Ala514Gly)	RELA (A387G +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1625390	NM_021975.4(RELA):c.1539A>G (p.Pro513=)	RELA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1480493	NM_021975.4(RELA):c.1537C>A (p.Pro513Thr)	RELA (P410T +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1407660	NM_021975.4(RELA):c.1537C>G (p.Pro513Ala)	RELA (P410A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523950	NM_021975.4(RELA):c.1533dup (p.Asp512fs)	RELA (D409fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1562878	NM_021975.4(RELA):c.1533C>T (p.Pro511=)	RELA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1719027	NM_021975.4(RELA):c.1528C>T (p.Pro510Ser)	RELA (P383S +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 721361	NM_021975.4(RELA):c.1527G>A (p.Arg509=)	RELA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784198	NM_021975.4(RELA):c.1525A>C (p.Arg509=)	RELA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3030909	NM_021975.4(RELA):c.1524G>C (p.Gln508His)	RELA (Q381H +8 more)	Single nucleotide variant (missense variant +1 more)	RELA-related disorder	GLikely benign
Select item 1518064	NM_021975.4(RELA):c.1520C>T (p.Ala507Val)	RELA (A438V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1722011	NM_021975.4(RELA):c.1519G>A (p.Ala507Thr)	RELA (A380T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1354078	NM_021975.4(RELA):c.1519del (p.Ala507fs)	RELA (A438fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1902328	NM_021975.4(RELA):c.1515_1516del (p.Ala507fs)	RELA (A438fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1671827	NM_021975.4(RELA):c.1506C>T (p.Arg502=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2173223	NM_021975.4(RELA):c.1498A>G (p.Ile500Val)	RELA (I429V +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1509226	NM_021975.4(RELA):c.1495G>T (p.Ala499Ser)	RELA (A430S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1932345	NM_021975.4(RELA):c.1491T>C (p.Pro497=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2880596	NM_021975.4(RELA):c.1485G>C (p.Glu495Asp)	RELA (E368D +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1176905	NM_021975.4(RELA):c.1470G>A (p.Glu490=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1356312	NM_021975.4(RELA):c.1468G>A (p.Glu490Lys)	RELA (E421K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1497508	NM_021975.4(RELA):c.1461C>A (p.His487Gln)	RELA (H484Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2446403	NM_021975.4(RELA):c.1459del (p.His487fs)	RELA (H360fs +8 more)	Deletion (frameshift variant +1 more)	Mucocutaneous ulceration, chronic	GPathogenic
Select item 1943719	NM_021975.4(RELA):c.1458C>G (p.Pro486=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1595148	NM_021975.4(RELA):c.1458C>A (p.Pro486=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1913593	NM_021975.4(RELA):c.1457C>T (p.Pro486Leu)	RELA (P455L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1917705	NM_021975.4(RELA):c.1454C>T (p.Ala485Val)	RELA (A358V +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1421099	NM_021975.4(RELA):c.1442G>A (p.Gly481Asp)	RELA (G478D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1992090	NM_021975.4(RELA):c.1441G>T (p.Gly481Cys)	RELA (G354C +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2763868	NM_021975.4(RELA):c.1420_1428del (p.Phe474_Gln476del)	RELA	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1976678	NM_021975.4(RELA):c.1423C>G (p.Gln475Glu)	RELA (Q348E +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1939672	NM_021975.4(RELA):c.1419G>C (p.Glu473Asp)	RELA (E367D +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1453182	NM_021975.4(RELA):c.1416dup (p.Glu473fs)	RELA (E404fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2782011	NM_021975.4(RELA):c.1416C>G (p.Ser472=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1636584	NM_021975.4(RELA):c.1416C>T (p.Ser472=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987450	NM_021975.4(RELA):c.1407C>T (p.Val469=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2421882	NM_021975.4(RELA):c.1404C>T (p.Ser468=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1638743	NM_021975.4(RELA):c.1404C>A (p.Ser468=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3005810	NM_021975.4(RELA):c.1378C>G (p.Pro460Ala)	RELA (P391A +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962164	NM_021975.4(RELA):c.1368C>T (p.Asn456=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1720630	NM_021975.4(RELA):c.1346A>C (p.Asp449Ala)	RELA (D322A +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1551112	NM_021975.4(RELA):c.1335T>C (p.Phe445=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1651420	NM_021975.4(RELA):c.1327C>T (p.Leu443=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2884656	NM_021975.4(RELA):c.1325A>C (p.Gln442Pro)	RELA (Q371P +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2811074	NM_021975.4(RELA):c.1316C>A (p.Ala439Asp)	RELA (A368D +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3068723	NM_021975.4(RELA):c.1310C>G (p.Ser437Ter)	RELA (S310* +8 more)	Single nucleotide variant (nonsense +1 more)	Mucocutaneous ulceration, chronic	GLikely pathogenic
Select item 2797400	NM_021975.4(RELA):c.1307T>C (p.Leu436Pro)	RELA (L405P +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1582762	NM_021975.4(RELA):c.1305G>A (p.Thr435=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1928512	NM_021975.4(RELA):c.1304C>T (p.Thr435Met)	RELA (T329M +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2769527	NM_021975.4(RELA):c.1300G>T (p.Gly434Ter)	RELA (G363* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1429257	NM_021975.4(RELA):c.1297G>A (p.Glu433Lys)	RELA (E433K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1615433	NM_021975.4(RELA):c.1296G>A (p.Gly432=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2026793	NM_021975.4(RELA):c.1293T>G (p.Ala431=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2899203	NM_021975.4(RELA):c.1289A>G (p.Gln430Arg)	RELA (Q324R +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175628	NM_021975.4(RELA):c.1284C>T (p.Pro428=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1934252	NM_021975.4(RELA):c.1278C>T (p.Pro426=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2811068	NM_021975.4(RELA):c.1274C>T (p.Ala425Val)	RELA (A298V +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1514107	NM_021975.4(RELA):c.1261G>C (p.Val421Leu)	RELA (V421L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1151642	NM_021975.4(RELA):c.1259C>T (p.Ala420Val)	RELA (A351V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2779913	NM_021975.4(RELA):c.1250C>T (p.Pro417Leu)	RELA (P386L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1511654	NM_021975.4(RELA):c.1244C>T (p.Pro415Leu)	RELA (P412L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1906329	NM_021975.4(RELA):c.1243C>T (p.Pro415Ser)	RELA (P384S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2977351	NM_021975.4(RELA):c.1242C>T (p.Ala414=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2826136	NM_021975.4(RELA):c.1220del (p.Pro407fs)	RELA (P398fs +7 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2901736	NM_021975.4(RELA):c.1217C>T (p.Ala406Val)	RELA (A300V +7 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2961443	NM_021975.4(RELA):c.1210G>A (p.Ala404Thr)	RELA (A277T +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2111935	NM_021975.4(RELA):c.1210G>C (p.Ala404Pro)	RELA (A277P +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1908601	NM_021975.4(RELA):c.1207C>G (p.Leu403Val)	RELA (L276V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2719379	NM_021975.4(RELA):c.1184C>G (p.Pro395Arg)	RELA (P268R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2114288	NM_021975.4(RELA):c.1166_1184del (p.Gln389fs)	RELA (Q386fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1377532	NM_021975.4(RELA):c.1171C>T (p.Pro391Ser)	RELA (P388S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2732214	NM_021975.4(RELA):c.1167G>A (p.Gln389=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1904831	NM_021975.4(RELA):c.1164C>T (p.Pro388=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2897306	NM_021975.4(RELA):c.1163C>T (p.Pro388Leu)	RELA (P357L +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2101936	NM_021975.4(RELA):c.1158C>T (p.Val386=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1905889	NM_021975.4(RELA):c.1154A>G (p.Gln385Arg)	RELA (Q382R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1452423	NM_021975.4(RELA):c.1153C>T (p.Gln385Ter)	RELA (Q385* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1359470	NM_021975.4(RELA):c.1137GGCCCC[3] (p.380AP[3])	RELA	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2180187	NM_021975.4(RELA):c.1143G>A (p.Pro381=)	RELA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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