ClinVar for MedGen (Select 766431) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3899969	NM_006265.3(RAD21):c.815-1G>T	RAD21	Single nucleotide variant (splice acceptor variant)	Cornelia de Lange syndrome 4	GLikely pathogenic
Select item 3730482	NM_006265.3(RAD21):c.879A>C (p.Gln293His)	RAD21 (Q293H)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3730317	NM_006265.3(RAD21):c.63C>T (p.Ala21=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 3725378	NM_006265.3(RAD21):c.1137T>G (p.Pro379=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 3722399	NM_006265.3(RAD21):c.814+2T>C	RAD21	Single nucleotide variant (splice donor variant)	Cornelia de Lange syndrome 4	GLikely pathogenic
Select item 3720882	NM_006265.3(RAD21):c.1420C>G (p.Gln474Glu)	RAD21 (Q474E)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3720881	NM_006265.3(RAD21):c.1744C>A (p.Leu582Ile)	RAD21 (L582I)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3719314	NM_006265.3(RAD21):c.1390G>C (p.Asp464His)	RAD21 (D464H)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3716037	NM_006265.3(RAD21):c.1315G>A (p.Val439Ile)	RAD21 (V439I)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3715483	NM_006265.3(RAD21):c.789T>A (p.Asp263Glu)	RAD21 (D263E)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3712800	NM_006265.3(RAD21):c.815-5_815-4dup	RAD21	Duplication (intron variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 3710006	NM_006265.3(RAD21):c.144+12G>A	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 3706812	NM_006265.3(RAD21):c.1641C>T (p.Gly547=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 3699109	NM_006265.3(RAD21):c.815-12T>A	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 3696857	NM_006265.3(RAD21):c.808G>A (p.Val270Ile)	RAD21 (V270I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3691771	NM_006265.3(RAD21):c.1050T>A (p.Thr350=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 3691349	NM_006265.3(RAD21):c.937+6C>T	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3690360	NM_006265.3(RAD21):c.1513C>G (p.Pro505Ala)	RAD21 (P505A)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3685611	NM_006265.3(RAD21):c.1417C>T (p.Pro473Ser)	RAD21 (P473S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3671029	NM_006265.3(RAD21):c.1293A>G (p.Gln431=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 3668907	NM_006265.3(RAD21):c.375-3A>C	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3667574	NM_006265.3(RAD21):c.822G>T (p.Gly274=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 3667262	NM_006265.3(RAD21):c.381C>A (p.Ile127=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3667141	NM_006265.3(RAD21):c.1631C>T (p.Ala544Val)	RAD21 (A544V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3666242	NM_006265.3(RAD21):c.482-20A>G	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 3661225	NM_006265.3(RAD21):c.1375A>C (p.Ser459Arg)	RAD21 (S459R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3660488	NM_006265.3(RAD21):c.1717A>G (p.Lys573Glu)	RAD21 (K573E)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3659956	NM_006265.3(RAD21):c.1402A>G (p.Met468Val)	RAD21 (M468V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3659254	NM_006265.3(RAD21):c.1543C>G (p.Leu515Val)	RAD21 (L515V)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3654464	NM_006265.3(RAD21):c.381C>T (p.Ile127=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 3654365	NM_006265.3(RAD21):c.374+9C>A	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 3653186	NM_006265.3(RAD21):c.814+15T>C	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 3646860	NM_006265.3(RAD21):c.275-3_275-2dup	RAD21	Duplication (splice acceptor variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3643681	NM_006265.3(RAD21):c.375-9C>T	RAD21	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 3636765	NM_006265.3(RAD21):c.1309C>T (p.Arg437Cys)	RAD21 (R437C)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3632951	NM_006265.3(RAD21):c.839C>G (p.Ser280Ter)	RAD21 (S280*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 4	GPathogenic
Select item 3624993	NM_006265.3(RAD21):c.1101A>T (p.Gly367=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 3614351	NM_006265.3(RAD21):c.1578G>A (p.Glu526=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 3614228	NM_006265.3(RAD21):c.938-14dup	RAD21	Duplication (intron variant)	Cornelia de Lange syndrome 4	GBenign
Select item 3609451	NM_006265.3(RAD21):c.1806T>A (p.Val602=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GLikely benign
Select item 3605648	NM_006265.3(RAD21):c.1048A>G (p.Thr350Ala)	RAD21 (T350A)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3595041	NM_006265.3(RAD21):c.1468C>T (p.Pro490Ser)	RAD21 (P490S)	Single nucleotide variant (missense variant)	Mungan syndrome +1 more	GUncertain significance
Select item 3571447	GRCh38/hg38 8q24.11(chr8:116871751-116875180)x1	LOC130000992, LOC130000993 +4 more	Copy number loss	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3429436	NM_006265.3(RAD21):c.1460C>T (p.Pro487Leu)	RAD21 (P487L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 3350544	NM_006265.3(RAD21):c.1214G>A (p.Arg405Lys)	RAD21 (R405K)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3245528	NC_000008.10:g.(?_117859739)_(117861288_?)dup	RAD21	Duplication	Cornelia de Lange syndrome 4	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 3061503	NM_006265.3(RAD21):c.1131T>C (p.Ala377=)	RAD21	Single nucleotide variant (synonymous variant)	Cornelia de Lange syndrome 4	GBenign
Select item 3041081	NM_006265.3(RAD21):c.1161+5T>C	RAD21	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3026203	NM_006265.3(RAD21):c.1888A>G (p.Ile630Val)	RAD21 (I630V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 +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)	Cornelia de Lange syndrome 4 +1 more	GUncertain significance

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