5885[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	PARP10, PCAT1 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130000867, LOC130000868 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC130001282, LOC130001283 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	AARD, ABRA +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1329 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001243, LOC130001244 +1204 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001328, LOC130001329 +1067 more	Copy number gain	See cases	GPathogenic
Select item 146552	GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1	AARD, CCN3 +93 more	Copy number loss	See cases	GPathogenic
Select item 60403	GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1	AARD, ANXA13 +314 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 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC114827840, LOC121331310 +961 more	Copy number gain	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 150131	GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1	AARD, CCN3 +106 more	Copy number loss	See cases	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	CCN3, CCN4 +558 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 154486	GRCh38/hg38 8q23.3-24.11(chr8:116497730-117379167)x1	AARD, EIF3H +19 more	Copy number loss	See cases	GUncertain significance
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	GUncertain significance
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 condition	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)	Cornelia de Lange syndrome 4 +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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 35460	NM_006265.3(RAD21):c.1753T>C (p.Cys585Arg)	RAD21	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4 +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)	Inborn genetic diseases +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)	not provided +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 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)	Inborn genetic diseases +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 condition	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)	Cornelia de Lange syndrome 4 +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)	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 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)	Inborn genetic diseases +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

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