CCDC80[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 57131	GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1	LOC129937247, LOC129937248 +127 more	Copy number loss	See cases	GPathogenic
Select item 154065	GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1	ATG3, ATP6V1A +106 more	Copy number loss	See cases	GPathogenic
Select item 149415	GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1	GAP43, GRAMD1C +105 more	Copy number loss	See cases	GPathogenic
Select item 146287	GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1	LOC129937275, LOC129937276 +105 more	Copy number loss	See cases	GLikely pathogenic
Select item 57805	GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1	ATG3, ATP6V1A +105 more	Copy number loss	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +191 more	Copy number loss	See cases	GPathogenic
Select item 2309069	NM_199511.3(CCDC80):c.2846C>T (p.Pro949Leu)	CCDC80 (P949L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717696	NM_199511.3(CCDC80):c.2812T>C (p.Tyr938His)	CCDC80 (Y938H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3264318	NM_199511.3(CCDC80):c.2795A>C (p.Asp932Ala)	CCDC80 (D932A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297906	NM_199511.3(CCDC80):c.2743G>A (p.Glu915Lys)	CCDC80 (E915K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264316	NM_199511.3(CCDC80):c.2617G>A (p.Gly873Arg)	CCDC80 (G873R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139424	NM_199511.3(CCDC80):c.2591T>A (p.Phe864Tyr)	CCDC80 (F864Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532531	NM_199511.3(CCDC80):c.2582C>T (p.Pro861Leu)	CCDC80 (P861L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270052	NM_199511.3(CCDC80):c.2551A>G (p.Lys851Glu)	CCDC80 (K851E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412395	NM_199511.3(CCDC80):c.2533G>A (p.Val845Ile)	CCDC80 (V845I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2313530	NM_199511.3(CCDC80):c.2530G>A (p.Asp844Asn)	CCDC80 (D844N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335065	NM_199511.3(CCDC80):c.2482G>A (p.Val828Met)	CCDC80 (V828M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387192	NM_199511.3(CCDC80):c.2441C>T (p.Thr814Ile)	CCDC80 (T814I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791246	NM_199511.3(CCDC80):c.2414C>T (p.Ala805Val)	CCDC80 (A805V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2407010	NM_199511.3(CCDC80):c.2327G>A (p.Arg776Gln)	CCDC80 (R776Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595938	NM_199511.3(CCDC80):c.2326C>T (p.Arg776Trp)	CCDC80 (R776W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236096	NM_199511.3(CCDC80):c.2311T>G (p.Phe771Val)	CCDC80 (F771V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475633	NM_199511.3(CCDC80):c.2212G>C (p.Asp738His)	CCDC80 (D738H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336380	NM_199511.3(CCDC80):c.2106G>C (p.Arg702Ser)	CCDC80 (R702S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139422	NM_199511.3(CCDC80):c.2087G>A (p.Arg696His)	CCDC80 (R696H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139421	NM_199511.3(CCDC80):c.2074T>A (p.Leu692Met)	CCDC80 (L692M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 3139420	NM_199511.3(CCDC80):c.2024A>C (p.His675Pro)	CCDC80 (H675P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264311	NM_199511.3(CCDC80):c.2017A>G (p.Ile673Val)	CCDC80 (I673V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373486	NM_199511.3(CCDC80):c.1924C>T (p.Arg642Cys)	CCDC80 (R642C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272186	NM_199511.3(CCDC80):c.1876C>T (p.Leu626Phe)	CCDC80 (L626F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305927	NM_199511.3(CCDC80):c.1866A>C (p.Lys622Asn)	CCDC80 (K622N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552697	NM_199511.3(CCDC80):c.1861G>A (p.Gly621Ser)	CCDC80 (G621S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355847	NM_199511.3(CCDC80):c.1840G>A (p.Asp614Asn)	CCDC80 (D614N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234333	NM_199511.3(CCDC80):c.1839C>G (p.Ala613=)	CCDC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2493531	NM_199511.3(CCDC80):c.1837G>A (p.Ala613Thr)	CCDC80 (A613T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139419	NM_199511.3(CCDC80):c.1772C>T (p.Thr591Ile)	CCDC80 (T591I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360705	NM_199511.3(CCDC80):c.1679A>G (p.Asp560Gly)	CCDC80 (D560G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264319	NM_199511.3(CCDC80):c.1591C>T (p.Leu531Phe)	CCDC80 (L531F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323001	NM_199511.3(CCDC80):c.1566C>G (p.Asp522Glu)	CCDC80 (D522E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458196	NM_199511.3(CCDC80):c.1526A>G (p.Lys509Arg)	CCDC80 (K509R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791088	NM_199511.3(CCDC80):c.1417C>T (p.His473Tyr)	CCDC80 (H473Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2239062	NM_199511.3(CCDC80):c.1412G>A (p.Arg471Gln)	CCDC80 (R471Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654033	NM_199511.3(CCDC80):c.1401C>T (p.Arg467=)	CCDC80	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654034	NM_199511.3(CCDC80):c.1385G>A (p.Arg462His)	CCDC80 (R462H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3139418	NM_199511.3(CCDC80):c.1330A>G (p.Asn444Asp)	CCDC80 (N444D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264320	NM_199511.3(CCDC80):c.1256G>A (p.Arg419Gln)	CCDC80 (R419Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592656	NM_199511.3(CCDC80):c.1255C>T (p.Arg419Trp)	CCDC80 (R419W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264317	NM_199511.3(CCDC80):c.1246C>T (p.Pro416Ser)	CCDC80 (P416S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139417	NM_199511.3(CCDC80):c.1222C>A (p.Pro408Thr)	CCDC80 (P408T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379492	NM_199511.3(CCDC80):c.1192A>G (p.Thr398Ala)	CCDC80 (T398A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139416	NM_199511.3(CCDC80):c.1043C>G (p.Pro348Arg)	CCDC80 (P348R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220328	NM_199511.3(CCDC80):c.1019C>G (p.Ala340Gly)	CCDC80 (A340G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547628	NM_199511.3(CCDC80):c.1015C>T (p.Pro339Ser)	CCDC80 (P339S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602775	NM_199511.3(CCDC80):c.1012G>A (p.Ala338Thr)	CCDC80 (A338T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139430	NM_199511.3(CCDC80):c.975G>C (p.Glu325Asp)	CCDC80 (E325D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511480	NM_199511.3(CCDC80):c.922A>G (p.Ser308Gly)	CCDC80 (S308G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264312	NM_199511.3(CCDC80):c.745C>G (p.Pro249Ala)	CCDC80 (P249A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556717	NM_199511.3(CCDC80):c.737A>C (p.Glu246Ala)	CCDC80 (E246A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139429	NM_199511.3(CCDC80):c.598G>A (p.Val200Met)	CCDC80 (V200M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463385	NM_199511.3(CCDC80):c.593G>T (p.Gly198Val)	CCDC80 (G198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392990	NM_199511.3(CCDC80):c.585G>C (p.Glu195Asp)	CCDC80 (E195D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139428	NM_199511.3(CCDC80):c.576G>C (p.Gln192His)	CCDC80 (Q192H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559062	NM_199511.3(CCDC80):c.562G>A (p.Val188Met)	CCDC80 (V188M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306846	NM_199511.3(CCDC80):c.514A>G (p.Lys172Glu)	CCDC80 (K172E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612609	NM_199511.3(CCDC80):c.511C>A (p.Leu171Met)	CCDC80 (L171M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780880	NM_199511.3(CCDC80):c.489C>T (p.Tyr163=)	CCDC80	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3139427	NM_199511.3(CCDC80):c.373G>C (p.Ala125Pro)	CCDC80 (A125P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589892	NM_199511.3(CCDC80):c.362A>C (p.Glu121Ala)	CCDC80 (E121A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260346	NM_199511.3(CCDC80):c.328G>C (p.Ala110Pro)	CCDC80 (A110P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139425	NM_199511.3(CCDC80):c.304G>A (p.Val102Met)	CCDC80 (V102M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2537481	NM_199511.3(CCDC80):c.284C>G (p.Ser95Trp)	CCDC80 (S95W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319969	NM_199511.3(CCDC80):c.277G>A (p.Ala93Thr)	CCDC80 (A93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773674	NM_199511.3(CCDC80):c.267A>G (p.Thr89=)	CCDC80	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2219040	NM_199511.3(CCDC80):c.182T>C (p.Ile61Thr)	CCDC80 (I61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609801	NM_199511.3(CCDC80):c.148C>T (p.Arg50Trp)	CCDC80 (R50W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352481	NM_199511.3(CCDC80):c.104G>A (p.Gly35Glu)	CCDC80 (G35E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264315	NM_199511.3(CCDC80):c.67C>A (p.Pro23Thr)	CCDC80 (P23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139426	NM_199511.3(CCDC80):c.31A>G (p.Met11Val)	CCDC80 (M11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685929	GRCh37/hg19 3q13.2(chr3:111845309-112880225)x3	ATG3, BTLA +9 more	Copy number gain	not provided	GUncertain significance
Select item 2685090	GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1	ABHD10, ATG3 +31 more	Copy number loss	not provided	GUncertain significance
Select item 2498335	GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1	ABHD10, ATG3 +34 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1809017	GRCh37/hg19 3q13.2(chr3:111919475-112389338)x3	ATG3, BTLA +4 more	Copy number gain	not provided	GUncertain significance
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1527035	GRCh37/hg19 3q13.2-13.31(chr3:112144081-115514432)	ATG3, ATP6V1A +22 more	Copy number loss	not specified	GPathogenic
Select item 980050	GRCh37/hg19 3q13.2-13.31(chr3:112135341-115509260)x3	CD200R1L, CCDC191 +22 more	Copy number gain	not provided	GPathogenic
Select item 686372	GRCh37/hg19 3q13.2(chr3:111929014-112773945)x3	ATG3, BTLA +8 more	Copy number gain	not provided	GUncertain significance
Select item 686136	GRCh37/hg19 3q13.2(chr3:111929014-112773945)x3	ATG3, BTLA +8 more	Copy number gain	not provided	GUncertain significance
Select item 666447	GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)x1	BOC, CCDC191 +22 more	Copy number loss	not provided	GPathogenic
Select item 562807	GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1	ATP6V1A, TIGIT +25 more	Copy number loss	not provided	GPathogenic
Select item 562805	GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1	ABHD10, ATG3 +34 more	Copy number loss	not provided	GPathogenic

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