ClinVar for MedGen (Select 766431) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066324	NM_006265.3(RAD21):c.464del (p.Leu155fs)	RAD21 (L155fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 4	GPathogenic
Select item 3064208	NM_006265.3(RAD21):c.68G>A (p.Trp23Ter)	RAD21 (W23*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 4	GPathogenic
Select item 3018131	NM_006265.3(RAD21):c.576A>G (p.Leu192=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 3013763	NM_006265.3(RAD21):c.938-14del	RAD21	Deletion (intron variant)	Cornelia de Lange syndrome 4	GBenign
Select item 3004431	NM_006265.3(RAD21):c.1322-6T>C	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GLikely benign
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 2978373	NM_006265.3(RAD21):c.1579_1581del (p.Lys527del)	RAD21 (K527del)	Deletion (inframe_deletion)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2967562	NM_006265.3(RAD21):c.937+7A>G	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2956749	NM_006265.3(RAD21):c.1211G>A (p.Arg404Lys)	RAD21 (R404K)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
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 2914376	NM_006265.3(RAD21):c.351T>C (p.Phe117=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2912955	NM_006265.3(RAD21):c.1162-20_1162-18del	RAD21	Deletion (intron variant)	Cornelia de Lange syndrome 4	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 2901724	NM_006265.3(RAD21):c.42G>C (p.Leu14=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2893125	NM_006265.3(RAD21):c.744C>T (p.Leu248=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2889419	NM_006265.3(RAD21):c.564T>G (p.Thr188=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
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 2883069	NM_006265.3(RAD21):c.375-12C>T	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GLikely 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 2873239	NM_006265.3(RAD21):c.583T>C (p.Ser195Pro)	RAD21 (S195P)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2872397	NM_006265.3(RAD21):c.689-15C>A	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GBenign
Select item 2870090	NM_006265.3(RAD21):c.686T>C (p.Leu229Ser)	RAD21 (L229S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2864917	NM_006265.3(RAD21):c.1353C>T (p.Leu451=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2854501	NM_006265.3(RAD21):c.815-6T>A	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	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 2847137	NM_006265.3(RAD21):c.1273G>A (p.Val425Ile)	RAD21 (V425I)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2844131	NM_006265.3(RAD21):c.1228G>T (p.Ala410Ser)	RAD21 (A410S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
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 2834305	NM_006265.3(RAD21):c.431C>T (p.Thr144Ile)	RAD21 (T144I)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2812996	NM_006265.3(RAD21):c.374+13T>C	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GLikely benign
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 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 2802103	NM_006265.3(RAD21):c.1322-5T>G	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2798368	NM_006265.3(RAD21):c.767C>T (p.Pro256Leu)	RAD21 (P256L)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2792811	NM_006265.3(RAD21):c.699T>C (p.Leu233=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2763704	NM_006265.3(RAD21):c.871A>G (p.Thr291Ala)	RAD21 (T291A)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2760169	NM_006265.3(RAD21):c.838T>A (p.Ser280Thr)	RAD21 (S280T)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2756045	NM_006265.3(RAD21):c.868A>G (p.Met290Val)	RAD21 (M290V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2750726	NM_006265.3(RAD21):c.1186C>T (p.Leu396Phe)	RAD21 (L396F)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	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 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 2739209	NM_006265.3(RAD21):c.81A>C (p.Leu27=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2738121	NM_006265.3(RAD21):c.683del (p.Ile228fs)	RAD21 (I228fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 4	GPathogenic
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 2726706	NM_006265.3(RAD21):c.814+6C>G	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2723729	NM_006265.3(RAD21):c.165A>G (p.Thr55=)	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 2719541	NM_006265.3(RAD21):c.1608_1613del (p.Asp536_Glu537del)	RAD21	Deletion (inframe_deletion)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2713321	NM_006265.3(RAD21):c.1235A>G (p.Asn412Ser)	RAD21 (N412S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2707131	NM_006265.3(RAD21):c.1153C>G (p.Leu385Val)	RAD21 (L385V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	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 2700050	NM_006265.3(RAD21):c.513G>A (p.Met171Ile)	RAD21 (M171I)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
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 2694154	NM_006265.3(RAD21):c.482-19C>T	RAD21	Single nucleotide variant (intron 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 2584420	NM_006265.3(RAD21):c.193C>T (p.Arg65Ter)	RAD21 (R65*)	Single nucleotide variant (nonsense)	RAD21- Related disorders +1 more	GPathogenic/Likely pathogenic
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 2417442	NM_006265.3(RAD21):c.741C>A (p.Ala247=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
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 2196734	NM_006265.3(RAD21):c.9C>T (p.Tyr3=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2185975	NM_006265.3(RAD21):c.676G>A (p.Gly226Ser)	RAD21 (G226S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2185346	NM_006265.3(RAD21):c.815-15_815-5del	RAD21	Deletion (intron variant)	Cornelia de Lange syndrome 4	GBenign
Select item 2181782	NM_006265.3(RAD21):c.925A>G (p.Ile309Val)	RAD21 (I309V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2172924	NM_006265.3(RAD21):c.12A>C (p.Ala4=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2167672	NM_006265.3(RAD21):c.865A>G (p.Thr289Ala)	RAD21 (T289A)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2164347	NM_006265.3(RAD21):c.481+8A>C	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 2130421	NM_006265.3(RAD21):c.689-15C>T	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2120395	NM_006265.3(RAD21):c.948A>G (p.Thr316=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
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 2104746	NM_006265.3(RAD21):c.714T>C (p.Asp238=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
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 2064132	NM_006265.3(RAD21):c.1620+11_1620+14del	RAD21	Microsatellite (intron variant)	Cornelia de Lange syndrome 4	GBenign
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 2048083	NM_006265.3(RAD21):c.1120T>C (p.Ser374Pro)	RAD21 (S374P)	Single nucleotide variant (missense variant)	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 2045876	NM_006265.3(RAD21):c.937+10T>C	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2044300	NM_006265.3(RAD21):c.375-9_375-7del	RAD21	Microsatellite (intron variant)	Cornelia de Lange syndrome 4	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 2039710	NM_006265.3(RAD21):c.689-4del	RAD21	Deletion (intron variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2037888	NM_006265.3(RAD21):c.1382_1384del (p.Thr461del)	RAD21 (T461del)	Deletion (inframe_deletion)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2035561	NM_006265.3(RAD21):c.1425A>T (p.Gly475=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2025817	NM_006265.3(RAD21):c.1317T>C (p.Val439=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2004362	NM_006265.3(RAD21):c.1130C>T (p.Ala377Val)	RAD21 (A377V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2004293	NM_006265.3(RAD21):c.689-17del	RAD21	Deletion (intron variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 2002294	NM_006265.3(RAD21):c.144+5G>A	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2002293	NM_006265.3(RAD21):c.482G>A (p.Gly161Asp)	RAD21 (G161D)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 2001811	NM_006265.3(RAD21):c.1045dup (p.Thr349fs)	RAD21 (T349fs)	Duplication (frameshift variant)	Cornelia de Lange syndrome 4	GPathogenic
Select item 1991742	NM_006265.3(RAD21):c.1895A>G (p.Ter632=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 1974568	NM_006265.3(RAD21):c.1322-14A>G	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 1971417	NM_006265.3(RAD21):c.1359_1360delinsTC (p.Glu453_Ser454delinsAspPro)	RAD21	Indel (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 1903730	NM_006265.3(RAD21):c.623A>G (p.His208Arg)	RAD21 (H208R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	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 1805433	NM_006265.3(RAD21):c.1635del (p.Gly547fs)	RAD21 (G547fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 4	GPathogenic
Select item 1803117	NM_006265.3(RAD21):c.548T>G (p.Leu183Ter)	RAD21 (L183*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 4	GLikely pathogenic
Select item 1780587	NM_006265.3(RAD21):c.1811A>G (p.Lys604Arg)	RAD21 (K604R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4 +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 1766625	NM_006265.3(RAD21):c.1276C>T (p.Pro426Ser)	RAD21 (P426S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4 +1 more	GUncertain significance
Select item 1721140	NM_006265.3(RAD21):c.1298A>G (p.Gln433Arg)	RAD21 (Q433R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance

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