CCDC8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	AP2S1, ARHGAP35 +363 more	Copy number gain	See cases	GPathogenic
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 57097	GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1	CCDC61, CCDC8 +115 more	Copy number loss	See cases	GPathogenic
Select item 2067001	NM_032040.5(CCDC8):c.1612C>T (p.Leu538=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1485526	NM_032040.5(CCDC8):c.1609C>A (p.Gln537Lys)	CCDC8 (Q537K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302900	NM_032040.5(CCDC8):c.1609C>T (p.Gln537Ter)	CCDC8 (Q537*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1609121	NM_032040.5(CCDC8):c.1608C>T (p.Asp536=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343719	NM_032040.5(CCDC8):c.1605A>C (p.Glu535Asp)	CCDC8 (E535D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1372765	NM_032040.5(CCDC8):c.1592A>T (p.Gln531Leu)	CCDC8 (Q531L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038334	NM_032040.5(CCDC8):c.1589A>C (p.Glu530Ala)	CCDC8 (E530A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2456690	NM_032040.5(CCDC8):c.1580C>T (p.Ala527Val)	CCDC8 (A527V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269632	NM_032040.5(CCDC8):c.1578A>T (p.Arg526Ser)	CCDC8 (R526S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1528061	NM_032040.5(CCDC8):c.1578A>G (p.Arg526=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 452737	NM_032040.5(CCDC8):c.1555del (p.Arg519fs)	CCDC8 (R519fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1351776	NM_032040.5(CCDC8):c.1549A>G (p.Asn517Asp)	CCDC8 (N517D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991670	NM_032040.5(CCDC8):c.1546A>G (p.Arg516Gly)	CCDC8 (R516G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1656932	NM_032040.5(CCDC8):c.1542G>A (p.Glu514=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907050	NM_032040.5(CCDC8):c.1531A>C (p.Arg511=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 262004	NM_032040.5(CCDC8):c.1521G>C (p.Lys507Asn)	CCDC8 (K507N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3063791	NM_032040.5(CCDC8):c.1510A>G (p.Thr504Ala)	CCDC8 (T504A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2179853	NM_032040.5(CCDC8):c.1506G>A (p.Leu502=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1522571	NM_032040.5(CCDC8):c.1501C>T (p.Arg501Trp)	CCDC8 (R501W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1514083	NM_032040.5(CCDC8):c.1495A>G (p.Thr499Ala)	CCDC8 (T499A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1499074	NM_032040.5(CCDC8):c.1477C>T (p.Arg493Trp)	CCDC8 (R493W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1436362	NM_032040.5(CCDC8):c.1474C>T (p.Arg492Cys)	CCDC8 (R492C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2870931	NM_032040.5(CCDC8):c.1470C>T (p.Cys490=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2153364	NM_032040.5(CCDC8):c.1461G>A (p.Ser487=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1522272	NM_032040.5(CCDC8):c.1460C>T (p.Ser487Leu)	CCDC8 (S487L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1654392	NM_032040.5(CCDC8):c.1458T>C (p.Phe486=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1609419	NM_032040.5(CCDC8):c.1455C>T (p.Arg485=)	CCDC8	Single nucleotide variant (synonymous variant)	CCDC8-related condition +1 more	GBenign/Likely benign
Select item 1600931	NM_032040.5(CCDC8):c.1455C>G (p.Arg485=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2194442	NM_032040.5(CCDC8):c.1454G>A (p.Arg485His)	CCDC8 (R485H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1930149	NM_032040.5(CCDC8):c.1454G>C (p.Arg485Pro)	CCDC8 (R485P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388156	NM_032040.5(CCDC8):c.1453C>G (p.Arg485Gly)	CCDC8 (R485G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1349039	NM_032040.5(CCDC8):c.1453C>T (p.Arg485Cys)	CCDC8 (R485C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1592092	NM_032040.5(CCDC8):c.1446C>A (p.Thr482=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715639	NM_032040.5(CCDC8):c.1446C>T (p.Thr482=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1401692	NM_032040.5(CCDC8):c.1444A>T (p.Thr482Ser)	CCDC8 (T482S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429062	NM_032040.5(CCDC8):c.1426A>C (p.Lys476Gln)	CCDC8 (K476Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1395855	NM_032040.5(CCDC8):c.1415G>A (p.Arg472Gln)	CCDC8 (R472Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 738807	NM_032040.5(CCDC8):c.1371A>C (p.Ser457=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1920152	NM_032040.5(CCDC8):c.1342G>C (p.Ala448Pro)	CCDC8 (A448P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438984	NM_032040.5(CCDC8):c.1313C>T (p.Ala438Val)	CCDC8 (A438V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1513074	NM_032040.5(CCDC8):c.1301C>G (p.Ala434Gly)	CCDC8 (A434G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063506	NM_032040.5(CCDC8):c.1297C>T (p.Arg433Trp)	CCDC8 (R433W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2058515	NM_032040.5(CCDC8):c.1288G>A (p.Ala430Thr)	CCDC8 (A430T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370030	NM_032040.5(CCDC8):c.1288G>T (p.Ala430Ser)	CCDC8 (A430S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373125	NM_032040.5(CCDC8):c.1276G>A (p.Asp426Asn)	CCDC8 (D426N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2978107	NM_032040.5(CCDC8):c.1266C>T (p.Val422=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2477568	NM_032040.5(CCDC8):c.1261G>C (p.Ala421Pro)	CCDC8 (A421P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3010226	NM_032040.5(CCDC8):c.1260A>G (p.Pro420=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068835	NM_032040.5(CCDC8):c.1254G>T (p.Arg418Ser)	CCDC8 (R418S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990560	NM_032040.5(CCDC8):c.1245G>C (p.Gln415His)	CCDC8 (Q415H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 782924	NM_032040.5(CCDC8):c.1235T>A (p.Val412Glu)	CCDC8 (V412E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1473961	NM_032040.5(CCDC8):c.1234G>A (p.Val412Ile)	CCDC8 (V412I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1576539	NM_032040.5(CCDC8):c.1233C>T (p.Ala411=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2553278	NM_032040.5(CCDC8):c.1231G>A (p.Ala411Thr)	CCDC8 (A411T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2682413	NM_032040.5(CCDC8):c.1198G>C (p.Gly400Arg)	CCDC8 (G400R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1467526	NM_032040.5(CCDC8):c.1181A>T (p.Glu394Val)	CCDC8 (E394V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1528005	NM_032040.5(CCDC8):c.1179G>A (p.Ala393=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1384303	NM_032040.5(CCDC8):c.1107_1178dup (p.Arg376_Gln399dup)	CCDC8	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1507498	NM_032040.5(CCDC8):c.1178C>T (p.Ala393Val)	CCDC8 (A393V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1222155	NM_032040.5(CCDC8):c.1147C>T (p.His383Tyr)	CCDC8 (H383Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 262003	NM_032040.5(CCDC8):c.1141G>A (p.Asp381Asn)	CCDC8 (D381N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1419885	NM_032040.5(CCDC8):c.1050_1121del (p.Glu350_Ala373del)	CCDC8	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 788471	NM_032040.5(CCDC8):c.1113C>G (p.Ala371=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1420267	NM_032040.5(CCDC8):c.1094A>C (p.Asp365Ala)	CCDC8 (D365A)	Single nucleotide variant (missense variant)	3M syndrome 3 +1 more	GUncertain significance
Select item 2265777	NM_032040.5(CCDC8):c.1066G>A (p.Ala356Thr)	CCDC8 (A356T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2070453	NM_032040.5(CCDC8):c.978_1049del (p.Asp326_Ala349del)	CCDC8	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1431325	NM_032040.5(CCDC8):c.1048G>C (p.Glu350Gln)	CCDC8 (E350Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 781490	NM_032040.5(CCDC8):c.1045G>C (p.Ala349Pro)	CCDC8 (A349P)	Single nucleotide variant (missense variant)	3M syndrome 3 +1 more	GBenign/Likely benign
Select item 1319607	NM_032040.5(CCDC8):c.1010_1033del (p.Glu337_Arg344del)	CCDC8	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2429294	NM_032040.5(CCDC8):c.1027C>T (p.Gln343Ter)	CCDC8 (Q343*)	Single nucleotide variant (nonsense)	3M syndrome 3	GLikely pathogenic
Select item 1505676	NM_032040.5(CCDC8):c.1022A>C (p.Asp341Ala)	CCDC8 (D341A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2472472	NM_032040.5(CCDC8):c.1012G>A (p.Glu338Lys)	CCDC8 (E338K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1643856	NM_032040.5(CCDC8):c.1002T>C (p.Asn334=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1352667	NM_032040.5(CCDC8):c.982G>A (p.Gly328Arg)	CCDC8 (G328R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1519767	NM_032040.5(CCDC8):c.978_979inv (p.Asp326_Gln327delinsGluGlu)	CCDC8	Inversion (missense variant)	not provided	GUncertain significance
Select item 1278835	NM_032040.5(CCDC8):c.977A>G (p.Asp326Gly)	CCDC8 (D326G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2429293	NM_032040.5(CCDC8):c.976del (p.Asp326fs)	CCDC8 (D326fs)	Deletion (frameshift variant)	3M syndrome 3	GLikely pathogenic
Select item 993034	NM_032040.5(CCDC8):c.963del (p.Ala323fs)	CCDC8 (A323fs)	Deletion (frameshift variant)	3M syndrome 3	GLikely pathogenic
Select item 377246	NM_032040.5(CCDC8):c.954T>G (p.Asn318Lys)	CCDC8 (N318K)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2798011	NM_032040.5(CCDC8):c.939A>T (p.Glu313Asp)	CCDC8 (E313D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986270	NM_032040.5(CCDC8):c.939A>C (p.Glu313Asp)	CCDC8 (E313D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992158	NM_032040.5(CCDC8):c.934C>A (p.Arg312=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1406084	NM_032040.5(CCDC8):c.928G>C (p.Asp310His)	CCDC8 (D310H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2439805	NM_032040.5(CCDC8):c.917_924delinsTCCTATG (p.Glu306fs)	CCDC8 (E306fs)	Indel (frameshift variant)	3M syndrome 3	GUncertain significance
Select item 1495884	NM_032040.5(CCDC8):c.919G>A (p.Ala307Thr)	CCDC8 (A307T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186682	NM_032040.5(CCDC8):c.913G>C (p.Glu305Gln)	CCDC8 (E305Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2475264	NM_032040.5(CCDC8):c.887G>C (p.Gly296Ala)	CCDC8 (G296A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1265467	NM_032040.5(CCDC8):c.886G>A (p.Gly296Arg)	CCDC8 (G296R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1448899	NM_032040.5(CCDC8):c.877G>A (p.Ala293Thr)	CCDC8 (A293T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788025	NM_032040.5(CCDC8):c.876G>T (p.Glu292Asp)	CCDC8 (E292D)	Single nucleotide variant (missense variant)	CCDC8-related condition +1 more	GLikely benign
Select item 1351410	NM_032040.5(CCDC8):c.874G>C (p.Glu292Gln)	CCDC8 (E292Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041034	NM_032040.5(CCDC8):c.873C>G (p.Ile291Met)	CCDC8 (I291M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1555938	NM_032040.5(CCDC8):c.863G>A (p.Gly288Glu)	CCDC8 (G288E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1447339	NM_032040.5(CCDC8):c.862G>A (p.Gly288Arg)	CCDC8 (G288R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683381	NM_032040.5(CCDC8):c.860del (p.Gln287fs)	CCDC8 (Q287fs)	Deletion (frameshift variant)	3M syndrome 3	GLikely pathogenic
Select item 2459578	NM_032040.5(CCDC8):c.844A>G (p.Thr282Ala)	CCDC8 (T282A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1418208	NM_032040.5(CCDC8):c.833G>A (p.Arg278Lys)	CCDC8 (R278K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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