ClinVar for Gene (Select 83987) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374708	NM_032040.5(CCDC8):c.1057del (p.Ala353fs)	CCDC8 (A353fs)	Deletion (frameshift variant)	3M syndrome 3	GLikely pathogenic
Select item 3366851	NM_032040.5(CCDC8):c.367C>A (p.Arg123=)	CCDC8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3338259	NM_032040.5(CCDC8):c.980del (p.Gln327fs)	CCDC8 (Q327fs)	Deletion (frameshift variant)	3M syndrome 3	GPathogenic
Select item 3264310	NM_032040.5(CCDC8):c.902A>C (p.Asp301Ala)	CCDC8 (D301A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3264309	NM_032040.5(CCDC8):c.278T>G (p.Val93Gly)	CCDC8 (V93G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3264308	NM_032040.5(CCDC8):c.916G>A (p.Glu306Lys)	CCDC8 (E306K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3139414	NM_032040.5(CCDC8):c.781T>C (p.Ser261Pro)	CCDC8 (S261P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3139413	NM_032040.5(CCDC8):c.557C>T (p.Pro186Leu)	CCDC8 (P186L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3139412	NM_032040.5(CCDC8):c.416T>C (p.Phe139Ser)	CCDC8 (F139S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3139411	NM_032040.5(CCDC8):c.40C>A (p.Pro14Thr)	CCDC8 (P14T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3139410	NM_032040.5(CCDC8):c.1427A>T (p.Lys476Met)	CCDC8 (K476M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3139409	NM_032040.5(CCDC8):c.1336G>T (p.Ala446Ser)	CCDC8 (A446S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3139408	NM_032040.5(CCDC8):c.1149C>G (p.His383Gln)	CCDC8 (H383Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3065843	NM_032040.5(CCDC8):c.324_331del (p.Ser108fs)	CCDC8 (S108fs)	Deletion (frameshift variant)	3M syndrome 3	GLikely pathogenic
Select item 3064906	NM_032040.5(CCDC8):c.807del (p.Asn270fs)	CCDC8 (N270fs)	Deletion (frameshift variant)	3M syndrome 3	GUncertain significance
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 3010226	NM_032040.5(CCDC8):c.1260A>G (p.Pro420=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999465	NM_032040.5(CCDC8):c.331G>T (p.Glu111Ter)	CCDC8 (E111*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2998644	NM_032040.5(CCDC8):c.573G>T (p.Ala191=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2990560	NM_032040.5(CCDC8):c.1245G>C (p.Gln415His)	CCDC8 (Q415H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985564	NM_032040.5(CCDC8):c.411C>T (p.Ser137=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978107	NM_032040.5(CCDC8):c.1266C>T (p.Val422=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977974	NM_032040.5(CCDC8):c.261T>C (p.Thr87=)	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 2897226	NM_032040.5(CCDC8):c.816C>T (p.Ala272=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871704	NM_032040.5(CCDC8):c.615G>A (p.Lys205=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870931	NM_032040.5(CCDC8):c.1470C>T (p.Cys490=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831904	NM_032040.5(CCDC8):c.41C>T (p.Pro14Leu)	CCDC8 (P14L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2791615	NM_032040.5(CCDC8):c.290A>G (p.Tyr97Cys)	CCDC8 (Y97C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778745	NM_032040.5(CCDC8):c.81C>A (p.Ile27=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691704	NM_032040.5(CCDC8):c.572C>T (p.Ala191Val)	CCDC8 (A191V)	Single nucleotide variant (missense variant)	not specified	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 2681702	NM_032040.5(CCDC8):c.1298G>A (p.Arg433Gln)	CCDC8 (R433Q)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2614594	NM_032040.5(CCDC8):c.742C>G (p.Arg248Gly)	CCDC8 (R248G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596293	NM_032040.5(CCDC8):c.665G>C (p.Gly222Ala)	CCDC8 (G222A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594147	NM_032040.5(CCDC8):c.743G>A (p.Arg248His)	CCDC8 (R248H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2503835	NM_032040.5(CCDC8):c.3G>A (p.Met1Ile)	CCDC8 (M1I)	Single nucleotide variant (missense variant +1 more)	3M syndrome 3	GLikely pathogenic
Select item 2502306	NM_032040.5(CCDC8):c.43C>G (p.Arg15Gly)	CCDC8 (R15G)	Single nucleotide variant (missense variant)	3M syndrome 3	GUncertain significance
Select item 2490217	NM_032040.5(CCDC8):c.91G>T (p.Ala31Ser)	CCDC8 (A31S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2477402	NM_032040.5(CCDC8):c.79A>T (p.Ile27Phe)	CCDC8 (I27F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2472472	NM_032040.5(CCDC8):c.1012G>A (p.Glu338Lys)	CCDC8 (E338K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2456690	NM_032040.5(CCDC8):c.1580C>T (p.Ala527Val)	CCDC8 (A527V)	Single nucleotide variant (missense variant)	not specified +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 2429294	NM_032040.5(CCDC8):c.1027C>T (p.Gln343Ter)	CCDC8 (Q343*)	Single nucleotide variant (nonsense)	3M syndrome 3	GLikely pathogenic
Select item 2429293	NM_032040.5(CCDC8):c.976del (p.Asp326fs)	CCDC8 (D326fs)	Deletion (frameshift variant)	3M syndrome 3	GLikely pathogenic
Select item 2429292	NM_032040.5(CCDC8):c.4_22dup (p.Val8fs)	CCDC8 (V8fs)	Duplication (frameshift variant +1 more)	3M syndrome 3	GLikely pathogenic
Select item 2427966	NM_032040.5(CCDC8):c.651G>A (p.Ala217=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419626	NM_032040.5(CCDC8):c.64G>A (p.Gly22Ser)	CCDC8 (G22S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2393294	NM_032040.5(CCDC8):c.212A>G (p.Lys71Arg)	CCDC8 (K71R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392873	NM_032040.5(CCDC8):c.129G>C (p.Gln43His)	CCDC8 (Q43H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361221	NM_032040.5(CCDC8):c.194A>C (p.His65Pro)	CCDC8 (H65P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340259	NM_032040.5(CCDC8):c.707T>C (p.Val236Ala)	CCDC8 (V236A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2323800	NM_032040.5(CCDC8):c.19G>C (p.Asp7His)	CCDC8 (D7H)	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 2265777	NM_032040.5(CCDC8):c.1066G>A (p.Ala356Thr)	CCDC8 (A356T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265364	NM_032040.5(CCDC8):c.368G>A (p.Arg123Gln)	CCDC8 (R123Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236405	NM_032040.5(CCDC8):c.269C>T (p.Pro90Leu)	CCDC8 (P90L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2186682	NM_032040.5(CCDC8):c.913G>C (p.Glu305Gln)	CCDC8 (E305Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2184416	NM_032040.5(CCDC8):c.578G>A (p.Arg193Lys)	CCDC8 (R193K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182262	NM_032040.5(CCDC8):c.160G>A (p.Asp54Asn)	CCDC8 (D54N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180327	NM_032040.5(CCDC8):c.258G>A (p.Val86=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179944	NM_032040.5(CCDC8):c.710C>T (p.Ser237Leu)	CCDC8 (S237L)	Single nucleotide variant (missense variant)	not provided +1 more	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 2153364	NM_032040.5(CCDC8):c.1461G>A (p.Ser487=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2145048	NM_032040.5(CCDC8):c.304G>A (p.Ala102Thr)	CCDC8 (A102T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105393	NM_032040.5(CCDC8):c.35T>C (p.Leu12Pro)	CCDC8 (L12P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104696	NM_032040.5(CCDC8):c.756G>C (p.Ala252=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2091000	NM_032040.5(CCDC8):c.737G>A (p.Gly246Glu)	CCDC8 (G246E)	Single nucleotide variant (missense variant)	not provided	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 2068835	NM_032040.5(CCDC8):c.1254G>T (p.Arg418Ser)	CCDC8 (R418S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067001	NM_032040.5(CCDC8):c.1612C>T (p.Leu538=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2053702	NM_032040.5(CCDC8):c.261_262inv (p.Pro88Thr)	CCDC8 (P88T)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2053666	NM_032040.5(CCDC8):c.694G>A (p.Glu232Lys)	CCDC8 (E232K)	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 2038334	NM_032040.5(CCDC8):c.1589A>C (p.Glu530Ala)	CCDC8 (E530A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1996701	NM_032040.5(CCDC8):c.126C>G (p.Thr42=)	CCDC8	Single nucleotide variant (synonymous 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 1986270	NM_032040.5(CCDC8):c.939A>C (p.Glu313Asp)	CCDC8 (E313D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984002	NM_032040.5(CCDC8):c.634G>A (p.Gly212Ser)	CCDC8 (G212S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977519	NM_032040.5(CCDC8):c.673C>G (p.Arg225Gly)	CCDC8 (R225G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975592	NM_032040.5(CCDC8):c.548A>G (p.Asn183Ser)	CCDC8 (N183S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972168	NM_032040.5(CCDC8):c.348G>C (p.Lys116Asn)	CCDC8 (K116N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963352	NM_032040.5(CCDC8):c.192G>C (p.Pro64=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1950977	NM_032040.5(CCDC8):c.657C>T (p.Pro219=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1920152	NM_032040.5(CCDC8):c.1342G>C (p.Ala448Pro)	CCDC8 (A448P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908737	NM_032040.5(CCDC8):c.99G>A (p.Lys33=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1683381	NM_032040.5(CCDC8):c.860del (p.Gln287fs)	CCDC8 (Q287fs)	Deletion (frameshift variant)	3M syndrome 3	GLikely pathogenic
Select item 1669335	NM_032040.5(CCDC8):c.198G>A (p.Pro66=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1656932	NM_032040.5(CCDC8):c.1542G>A (p.Glu514=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1654392	NM_032040.5(CCDC8):c.1458T>C (p.Phe486=)	CCDC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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