RAD21[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1213389	NM_006265.3(RAD21):c.*31T>A	RAD21	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1991742	NM_006265.3(RAD21):c.1895A>G (p.Ter632=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 2582634	NM_006265.3(RAD21):c.1890T>G (p.Ile630Met)	RAD21 (I630M)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3026203	NM_006265.3(RAD21):c.1888A>G (p.Ile630Val)	RAD21 (I630V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560415	NM_006265.3(RAD21):c.1864G>A (p.Ala622Thr)	RAD21 (A622T)	Single nucleotide variant (missense variant)	Mungan syndrome	GPathogenic
Select item 2696741	NM_006265.3(RAD21):c.1863C>T (p.Ile621=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 1356689	NM_006265.3(RAD21):c.1863C>G (p.Ile621Met)	RAD21 (I621M)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 1479168	NM_006265.3(RAD21):c.1858A>T (p.Ile620Phe)	RAD21 (I620F)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GLikely pathogenic
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 473193	NM_006265.3(RAD21):c.1848G>A (p.Pro616=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2836392	NM_006265.3(RAD21):c.1845A>G (p.Glu615=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 981439	NM_006265.3(RAD21):c.1843G>T (p.Glu615Ter)	RAD21 (E615*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 4	GPathogenic
Select item 3047087	NM_006265.3(RAD21):c.1836A>C (p.Thr612=)	RAD21	Single nucleotide variant (synonymous variant)	RAD21-related disorder	GLikely benign
Select item 2042344	NM_006265.3(RAD21):c.1824T>G (p.Ala608=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2693133	NM_006265.3(RAD21):c.1815G>C (p.Lys605Asn)	RAD21 (K605N)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 1780587	NM_006265.3(RAD21):c.1811A>G (p.Lys604Arg)	RAD21 (K604R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 216988	NM_006265.3(RAD21):c.1808T>C (p.Leu603Pro)	RAD21 (L603P)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GLikely pathogenic
Select item 1780419	NM_006265.3(RAD21):c.1801T>C (p.Leu601=)	RAD21	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 159807	NM_006265.3(RAD21):c.1782C>T (p.Ala594=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GConflicting classifications of pathogenicity
Select item 545121	NM_006265.3(RAD21):c.1774_1776del (p.Gln592del)	RAD21 (Q592del)	Deletion (inframe_deletion)	Cornelia de Lange syndrome 4	GLikely pathogenic
Select item 1335718	NM_006265.3(RAD21):c.1764G>A (p.Thr588=)	RAD21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 588998	NM_006265.3(RAD21):c.1757G>A (p.Arg586Gln)	RAD21 (R586Q)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4 +1 more	GUncertain significance
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 1690430	NM_006265.3(RAD21):c.1742T>C (p.Leu581Ser)	RAD21 (L581S)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 1779051	NM_006265.3(RAD21):c.1735A>G (p.Ile579Val)	RAD21 (I579V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2802143	NM_006265.3(RAD21):c.1729G>A (p.Glu577Lys)	RAD21 (E577K)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2086083	NM_006265.3(RAD21):c.1727C>T (p.Ala576Val)	RAD21 (A576V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 589329	NM_006265.3(RAD21):c.1724G>C (p.Gly575Ala)	RAD21 (G575A)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4 +1 more	GUncertain significance
Select item 2803814	NM_006265.3(RAD21):c.1719A>G (p.Lys573=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 961308	NM_006265.3(RAD21):c.1711C>T (p.Leu571Phe)	RAD21 (L571F)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 1778455	NM_006265.3(RAD21):c.1706G>A (p.Arg569His)	RAD21 (R569H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2705915	NM_006265.3(RAD21):c.1705-2A>G	RAD21	Single nucleotide variant (splice acceptor variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 771164	NM_006265.3(RAD21):c.1705-7A>T	RAD21	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2905835	NM_006265.3(RAD21):c.1705-15T>C	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	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 1185047	NM_006265.3(RAD21):c.1621-384_1704+199del	RAD21	Deletion (splice acceptor variant +1 more)	Cornelia de Lange syndrome 4	GPathogenic
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 2852973	NM_006265.3(RAD21):c.1694A>G (p.His565Arg)	RAD21 (H565R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 418706	NM_006265.3(RAD21):c.1651del (p.Gln551fs)	RAD21 (Q551fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3239535	NM_006265.3(RAD21):c.1638G>T (p.Gly546=)	RAD21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1805433	NM_006265.3(RAD21):c.1635del (p.Gly547fs)	RAD21 (G547fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 4	GPathogenic
Select item 589265	NM_006265.3(RAD21):c.1629T>C (p.Asp543=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4 +1 more	GLikely benign
Select item 2631162	NM_006265.3(RAD21):c.1627G>A (p.Asp543Asn)	RAD21 (D543N)	Single nucleotide variant (missense variant)	RAD21-related disorder	GUncertain significance
Select item 1901755	NM_006265.3(RAD21):c.1621-12A>T	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2727918	NM_006265.3(RAD21):c.1621-13C>T	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GUncertain significance
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 2064132	NM_006265.3(RAD21):c.1620+11_1620+14del	RAD21	Microsatellite (intron variant)	Cornelia de Lange syndrome 4	GBenign
Select item 2281575	NM_006265.3(RAD21):c.1620G>A (p.Glu540=)	RAD21	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 159806	NM_006265.3(RAD21):c.1617A>G (p.Glu539=)	RAD21	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2719541	NM_006265.3(RAD21):c.1608_1613del (p.Asp536_Glu537del)	RAD21	Deletion (inframe_deletion)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2046760	NM_006265.3(RAD21):c.1602A>T (p.Glu534Asp)	RAD21 (E534D)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 1956851	NM_006265.3(RAD21):c.1592A>G (p.Lys531Arg)	RAD21 (K531R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2061343	NM_006265.3(RAD21):c.1560_1583dup (p.Glu528_Lys529insLeuLeuProGluLysGluLysGlu)	RAD21	Duplication (inframe_insertion)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2245238	NM_006265.3(RAD21):c.1582G>C (p.Glu528Gln)	RAD21 (E528Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2978373	NM_006265.3(RAD21):c.1579_1581del (p.Lys527del)	RAD21 (K527del)	Deletion (inframe_deletion)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 473192	NM_006265.3(RAD21):c.1576G>C (p.Glu526Gln)	RAD21 (E526Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1775332	NM_006265.3(RAD21):c.1564C>G (p.Leu522Val)	RAD21 (L522V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4 +1 more	GBenign/Likely benign
Select item 523217	NM_006265.3(RAD21):c.1550dup (p.Glu518fs)	RAD21 (E518fs)	Duplication (frameshift variant)	Cornelia de Lange syndrome 4	GPathogenic
Select item 2883895	NM_006265.3(RAD21):c.1549C>T (p.Pro517Ser)	RAD21 (P517S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 864834	NM_006265.3(RAD21):c.1548delinsTC (p.Glu518fs)	RAD21 (E518fs)	Indel (frameshift variant)	Cornelia de Lange syndrome 4	GPathogenic
Select item 2117508	NM_006265.3(RAD21):c.1538G>C (p.Cys513Ser)	RAD21 (C513S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	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 588997	NM_006265.3(RAD21):c.1532A>G (p.Asn511Ser)	RAD21 (N511S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 2994143	NM_006265.3(RAD21):c.1528C>G (p.Pro510Ala)	RAD21 (P510A)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	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 2750703	NM_006265.3(RAD21):c.1517C>G (p.Pro506Arg)	RAD21 (P506R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3257319	NM_006265.3(RAD21):c.1516C>G (p.Pro506Ala)	RAD21 (P506A)	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)	RAD21-related disorder +3 more	GBenign/Likely benign
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 588094	NM_006265.3(RAD21):c.1503T>G (p.Pro501=)	RAD21	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2750263	NM_006265.3(RAD21):c.1500A>G (p.Pro500=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2723488	NM_006265.3(RAD21):c.1489A>G (p.Met497Val)	RAD21 (M497V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 589776	NM_006265.3(RAD21):c.1479G>C (p.Gln493His)	RAD21 (Q493H)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 587998	NM_006265.3(RAD21):c.1471-3A>G	RAD21	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 737319	NM_006265.3(RAD21):c.1471-9T>C	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GLikely benign
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 2873659	NM_006265.3(RAD21):c.1471-13G>A	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 1664209	NM_006265.3(RAD21):c.1471-16T>C	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GLikely 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 2918104	NM_006265.3(RAD21):c.1470+20C>T	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2150888	NM_006265.3(RAD21):c.1470+13A>G	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 735454	NM_006265.3(RAD21):c.1470+9G>A	RAD21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1481022	NM_006265.3(RAD21):c.1446A>T (p.Gln482His)	RAD21 (Q482H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1772781	NM_006265.3(RAD21):c.1445A>G (p.Gln482Arg)	RAD21 (Q482R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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