"GeneDx"[submitter] AND "RAD21"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 138

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 60403	GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1	AARD, ANXA13 +315 more	Copy number loss	See cases	GPathogenic
Select item 145965	GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1	MTBP, RAD21 +101 more	Copy number loss	See cases	GPathogenic
Select item 152006	GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1	AARD, CCN3 +108 more	Copy number loss	See cases	GPathogenic
Select item 1213389	NM_006265.3(RAD21):c.*31T>A	RAD21	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 452661	NM_006265.3(RAD21):c.1852A>G (p.Ser618Gly)	RAD21 (S618G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 545121	NM_006265.3(RAD21):c.1774_1776del (p.Gln592del)	RAD21 (Q592del)	Deletion (inframe_deletion)	Cornelia de Lange syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 3340858	NM_006265.3(RAD21):c.1756C>T (p.Arg586Ter)	RAD21 (R586*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 35460	NM_006265.3(RAD21):c.1753T>C (p.Cys585Arg)	RAD21	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1216138	NM_006265.3(RAD21):c.1705-12G>A	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4 +1 more	GLikely benign
Select item 1206524	NM_006265.3(RAD21):c.1705-157del	RAD21	Deletion (intron variant)	not provided	GLikely benign
Select item 1190296	NM_006265.3(RAD21):c.1705-169del	RAD21	Deletion (intron variant)	not provided	GLikely benign
Select item 669108	NM_006265.3(RAD21):c.1705-222A>G	RAD21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296135	NM_006265.3(RAD21):c.1705-232C>A	RAD21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241638	NM_006265.3(RAD21):c.1705-240T>C	RAD21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223516	NM_006265.3(RAD21):c.1704+255A>G	RAD21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271425	NM_006265.3(RAD21):c.1704+173_1704+174dup	RAD21	Duplication (intron variant)	not provided	GBenign
Select item 1236240	NM_006265.3(RAD21):c.1704+173dup	RAD21	Duplication (intron variant)	not provided	GBenign
Select item 1265854	NM_006265.3(RAD21):c.1704+144A>T	RAD21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187870	NM_006265.3(RAD21):c.1704+84G>A	RAD21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680854	NM_006265.3(RAD21):c.1704+4T>C	RAD21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 418706	NM_006265.3(RAD21):c.1651del (p.Gln551fs)	RAD21 (Q551fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 669106	NM_006265.3(RAD21):c.1621-248A>G	RAD21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221751	NM_006265.3(RAD21):c.1620+313dup	RAD21	Duplication (intron variant)	not provided	GBenign
Select item 1238413	NM_006265.3(RAD21):c.1620+146G>A	RAD21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2719541	NM_006265.3(RAD21):c.1608_1613del (p.Asp536_Glu537del)	RAD21	Deletion (inframe_indel +1 more)	not provided +1 more	GUncertain significance
Select item 3371788	NM_006265.3(RAD21):c.1604A>T (p.Asp535Val)	RAD21 (D535V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315903	NM_006265.3(RAD21):c.1538G>T (p.Cys513Phe)	RAD21 (C513F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318784	NM_006265.3(RAD21):c.1526C>T (p.Pro509Leu)	RAD21 (P509L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 473191	NM_006265.3(RAD21):c.1515C>G (p.Pro505=)	RAD21	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 3365023	NM_006265.3(RAD21):c.1508A>G (p.Glu503Gly)	RAD21 (E503G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697138	NM_006265.3(RAD21):c.1504G>A (p.Val502Ile)	RAD21 (V502I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506683	NM_006265.3(RAD21):c.1471-11A>G	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4 +1 more	GBenign/Likely benign
Select item 1263339	NM_006265.3(RAD21):c.1471-129G>A	RAD21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294485	NM_006265.3(RAD21):c.1471-328A>T	RAD21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200048	NM_006265.3(RAD21):c.1470+199C>G	RAD21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207086	NM_006265.3(RAD21):c.1470+186C>T	RAD21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205165	NM_006265.3(RAD21):c.1470+74G>T	RAD21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 159805	NM_006265.3(RAD21):c.1440T>C (p.Ala480=)	RAD21	Single nucleotide variant (synonymous variant)	Mungan syndrome +4 more	GBenign
Select item 816920	NM_006265.3(RAD21):c.1432C>T (p.Arg478Ter)	RAD21 (R478*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1428062	NM_006265.3(RAD21):c.1364T>C (p.Val455Ala)	RAD21 (V455A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 372619	NM_006265.3(RAD21):c.1352T>G (p.Leu451Arg)	RAD21 (L451R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4 +3 more	GConflicting classifications of pathogenicity
Select item 430294	NM_006265.3(RAD21):c.1349G>A (p.Arg450His)	RAD21 (R450H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1292492	NM_006265.3(RAD21):c.1322-115_1322-113del	RAD21	Microsatellite (intron variant)	not provided	GBenign
Select item 1186929	NM_006265.3(RAD21):c.1322-208T>G	RAD21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295456	NM_006265.3(RAD21):c.1322-216A>G	RAD21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203613	NM_006265.3(RAD21):c.1322-218G>C	RAD21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295460	NM_006265.3(RAD21):c.1321+180T>G	RAD21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283060	NM_006265.3(RAD21):c.1321+35C>T	RAD21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 620426	NM_006265.3(RAD21):c.1306C>T (p.Gln436Ter)	RAD21 (Q436*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 588115	NM_006265.3(RAD21):c.1242T>G (p.Asp414Glu)	RAD21 (D414E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 864836	NM_006265.3(RAD21):c.1217_1224del (p.Lys406fs)	RAD21 (K406fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3367278	NM_006265.3(RAD21):c.1183C>T (p.Pro395Ser)	RAD21 (P395S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1242028	NM_006265.3(RAD21):c.1162-19dup	RAD21	Duplication (intron variant)	not provided	GBenign
Select item 211992	NM_006265.3(RAD21):c.1162-6del	RAD21	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1256870	NM_006265.3(RAD21):c.1162-45G>T	RAD21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191087	NM_006265.3(RAD21):c.1162-241C>T	RAD21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224897	NM_006265.3(RAD21):c.1161+117_1161+119del	RAD21	Deletion (intron variant)	not provided	GBenign
Select item 391238	NM_006265.3(RAD21):c.1064C>T (p.Pro355Leu)	RAD21 (P355L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2268384	NM_006265.3(RAD21):c.965G>C (p.Arg322Thr)	RAD21 (R322T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 159809	NM_006265.3(RAD21):c.938-11T>C	RAD21	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1196259	NM_006265.3(RAD21):c.938-110T>C	RAD21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235429	NM_006265.3(RAD21):c.938-194C>T	RAD21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186381	NM_006265.3(RAD21):c.937+219A>G	RAD21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295457	NM_006265.3(RAD21):c.937+167dup	RAD21	Duplication (intron variant)	not provided	GBenign
Select item 1295459	NM_006265.3(RAD21):c.937+142C>G	RAD21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231780	NM_006265.3(RAD21):c.937+99T>G	RAD21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200774	NM_006265.3(RAD21):c.937+88T>C	RAD21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3368858	NM_006265.3(RAD21):c.889G>A (p.Val297Ile)	RAD21 (V297I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806797	NM_006265.3(RAD21):c.880A>G (p.Thr294Ala)	RAD21 (T294A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444542	NM_006265.3(RAD21):c.874G>A (p.Asp292Asn)	RAD21 (D292N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370167	NM_006265.3(RAD21):c.857C>G (p.Pro286Arg)	RAD21 (P286R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317419	NM_006265.3(RAD21):c.827A>G (p.Asp276Gly)	RAD21 (D276G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364261	NM_006265.3(RAD21):c.815T>C (p.Met272Thr)	RAD21 (M272T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1204746	NM_006265.3(RAD21):c.815-27dup	RAD21	Duplication (intron variant)	not provided +2 more	GLikely benign
Select item 1206361	NM_006265.3(RAD21):c.815-6_815-5del	RAD21	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 522193	NM_006265.3(RAD21):c.815-5del	RAD21	Deletion (intron variant)	Mungan syndrome +2 more	GBenign/Likely benign
Select item 1211528	NM_006265.3(RAD21):c.814+69G>T	RAD21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235886	NM_006265.3(RAD21):c.814+60dup	RAD21	Duplication (intron variant)	not provided	GBenign
Select item 1195501	NM_006265.3(RAD21):c.814+57C>T	RAD21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1315859	NM_006265.3(RAD21):c.793G>A (p.Asp265Asn)	RAD21 (D265N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368956	NM_006265.3(RAD21):c.788A>T (p.Asp263Val)	RAD21 (D263V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 473194	NM_006265.3(RAD21):c.786C>T (p.Asp262=)	RAD21	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3369736	NM_006265.3(RAD21):c.783T>G (p.His261Gln)	RAD21 (H261Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319012	NM_006265.3(RAD21):c.745T>C (p.Ser249Pro)	RAD21 (S249P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2499396	NM_006265.3(RAD21):c.716G>T (p.Gly239Val)	RAD21 (G239V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368473	NM_006265.3(RAD21):c.701T>C (p.Ile234Thr)	RAD21 (I234T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1296083	NM_006265.3(RAD21):c.689-217G>A	RAD21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669105	NM_006265.3(RAD21):c.689-232del	RAD21	Deletion (intron variant)	not provided	GBenign
Select item 1200362	NM_006265.3(RAD21):c.688+147G>A	RAD21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675063	NM_006265.3(RAD21):c.688+46T>C	RAD21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 159808	NM_006265.3(RAD21):c.688+8G>A	RAD21	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 2444617	NM_006265.3(RAD21):c.688G>C (p.Asp230His)	RAD21 (D230H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 280268	NM_006265.3(RAD21):c.578T>A (p.Leu193Ter)	RAD21 (L193*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1317371	NM_006265.3(RAD21):c.482-15_482-11del	RAD21	Deletion (intron variant)	Cornelia de Lange syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 1250804	NM_006265.3(RAD21):c.482-145_482-140del	RAD21	Deletion (intron variant)	not provided	GBenign
Select item 1236236	NM_006265.3(RAD21):c.481+239C>T	RAD21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668613	NM_006265.3(RAD21):c.481+216T>C	RAD21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200882	NM_006265.3(RAD21):c.481+145A>G	RAD21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199847	NM_006265.3(RAD21):c.481+128A>G	RAD21	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 2