ClinVar for Gene (Select 5885) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377451	NM_006265.3(RAD21):c.769G>C (p.Glu257Gln)	RAD21 (E257Q)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3376429	NM_006265.3(RAD21):c.1183C>G (p.Pro395Ala)	RAD21 (P395A)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3374737	NM_006265.3(RAD21):c.877C>T (p.Gln293Ter)	RAD21 (Q293*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 4	GLikely pathogenic
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 3370784	NM_006265.3(RAD21):c.319G>A (p.Ala107Thr)	RAD21 (A107T)	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 3369736	NM_006265.3(RAD21):c.783T>G (p.His261Gln)	RAD21 (H261Q)	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 3368858	NM_006265.3(RAD21):c.889G>A (p.Val297Ile)	RAD21 (V297I)	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 3367278	NM_006265.3(RAD21):c.1183C>T (p.Pro395Ser)	RAD21 (P395S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365740	NM_006265.3(RAD21):c.137C>T (p.Ser46Leu)	RAD21 (S46L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3364261	NM_006265.3(RAD21):c.815T>C (p.Met272Thr)	RAD21 (M272T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361707	NM_006265.3(RAD21):c.510A>G (p.Ile170Met)	RAD21 (I170M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361510	NM_006265.3(RAD21):c.1722_1723del (p.Gly575fs)	RAD21 (G575fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3361201	NM_006265.3(RAD21):c.1121C>G (p.Ser374Cys)	RAD21 (S374C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359867	NM_006265.3(RAD21):c.1563_1565del (p.Leu522del)	RAD21 (L522del)	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 3350544	NM_006265.3(RAD21):c.1214G>A (p.Arg405Lys)	RAD21 (R405K)	Single nucleotide variant (missense variant)	RAD21-related disorder	GUncertain significance
Select item 3349405	NM_006265.3(RAD21):c.712G>A (p.Asp238Asn)	RAD21 (D238N)	Single nucleotide variant (missense variant)	RAD21-related disorder	GUncertain significance
Select item 3347797	NM_006265.3(RAD21):c.1831C>G (p.Leu611Val)	RAD21 (L611V)	Single nucleotide variant (missense variant)	RAD21-related disorder	GUncertain significance
Select item 3346558	NM_006265.3(RAD21):c.121G>C (p.Val41Leu)	RAD21 (V41L)	Single nucleotide variant (missense variant)	RAD21-related disorder	GUncertain significance
Select item 3340858	NM_006265.3(RAD21):c.1756C>T (p.Arg586Ter)	RAD21 (R586*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3338536	NM_006265.3(RAD21):c.1161+325A>G	RAD21	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3312275	NM_006265.3(RAD21):c.790A>G (p.Met264Val)	RAD21 (M264V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3312274	NM_006265.3(RAD21):c.742C>T (p.Leu248Phe)	RAD21 (L248F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3245563	NC_000008.10:g.(?_116426251)_(119965024_?)del	AARD, EIF3H +9 more	Deletion	not provided	GPathogenic
Select item 3245528	NC_000008.10:g.(?_117859739)_(117861288_?)dup	RAD21	Duplication	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3245509	NC_000008.10:g.(?_116426251)_(120844804_?)del	CCN3, AARD +14 more	Deletion	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 3245404	NC_000008.10:g.(?_116426251)_(120844804_?)dup	AARD, CCN3 +14 more	Duplication	Trichorhinophalangeal syndrome, type III +2 more	GUncertain significance
Select item 3239535	NM_006265.3(RAD21):c.1638G>T (p.Gly546=)	RAD21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3225521	NM_006265.3(RAD21):c.690T>A (p.Asp230Glu)	RAD21 (D230E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151009	NM_006265.3(RAD21):c.689A>G (p.Asp230Gly)	RAD21 (D230G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3061503	NM_006265.3(RAD21):c.1131T>C (p.Ala377=)	RAD21	Single nucleotide variant (synonymous variant)	RAD21-related disorder	GLikely benign
Select item 3054602	NM_006265.3(RAD21):c.1134G>A (p.Gln378=)	RAD21	Single nucleotide variant (synonymous variant)	RAD21-related disorder	GLikely benign
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 3041081	NM_006265.3(RAD21):c.1161+5T>C	RAD21	Single nucleotide variant (intron variant)	RAD21-related disorder	GLikely benign
Select item 3032232	NM_006265.3(RAD21):c.937+1G>A	RAD21	Single nucleotide variant (splice donor variant)	RAD21-related disorder	GLikely pathogenic
Select item 3031507	NM_006265.3(RAD21):c.1421A>G (p.Gln474Arg)	RAD21 (Q474R)	Single nucleotide variant (missense variant)	RAD21-related disorder	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 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	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)	Inborn genetic diseases +1 more	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_indel +1 more)	not provided +1 more	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 2658773	NM_006265.3(RAD21):c.718G>A (p.Gly240Ser)	RAD21 (G240S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2658772	NM_006265.3(RAD21):c.1071C>T (p.Thr357=)	RAD21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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