C6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 1165368	NM_000065.5(C6):c.2800G>A (p.Ala934Thr)	C6 (A934T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2420273	NM_000065.5(C6):c.2793G>A (p.Lys931=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1416660	NM_000065.5(C6):c.2785C>T (p.Pro929Ser)	C6 (P929S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775835	NM_000065.5(C6):c.2779C>T (p.Leu927=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2197966	NM_000065.5(C6):c.2775A>C (p.Glu925Asp)	C6 (E925D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868766	NM_000065.5(C6):c.2742G>A (p.Val914=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1515442	NM_000065.5(C6):c.2730C>G (p.Asn910Lys)	C6 (N910K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2473454	NM_000065.5(C6):c.2699T>C (p.Met900Thr)	C6 (M900T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334635	NM_000065.5(C6):c.2696A>T (p.Lys899Ile)	C6 (K899I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1506664	NM_000065.5(C6):c.2690G>A (p.Cys897Tyr)	C6 (C897Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382540	NM_000065.5(C6):c.2689T>G (p.Cys897Gly)	C6 (C897G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495913	NM_000065.5(C6):c.2680C>G (p.Gln894Glu)	C6 (Q894E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362258	NM_000065.5(C6):c.2678A>T (p.Asn893Ile)	C6 (N893I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388490	NM_000065.5(C6):c.2672G>T (p.Gly891Val)	C6 (G891V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1522173	NM_000065.5(C6):c.2652G>T (p.Leu884Phe)	C6 (L884F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066036	NM_000065.5(C6):c.2650T>C (p.Leu884=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997731	NM_000065.5(C6):c.2649A>G (p.Leu883=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134666	NM_000065.5(C6):c.2643C>T (p.Val881=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074847	NM_000065.5(C6):c.2642T>C (p.Val881Ala)	C6 (V881A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461600	NM_000065.5(C6):c.2629A>G (p.Thr877Ala)	C6 (T877A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013505	NM_000065.5(C6):c.2626T>C (p.Ser876Pro)	C6 (S876P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065714	NM_000065.5(C6):c.2624-1G>A	C6	Single nucleotide variant (splice acceptor variant)	Complement component 6 deficiency	GLikely pathogenic
Select item 1655625	NM_000065.5(C6):c.2624-5T>C	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1598827	NM_000065.5(C6):c.2624-21TC[8]	C6	Microsatellite (intron variant)	not provided	GBenign
Select item 1646600	NM_000065.5(C6):c.2624-19T>A	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1346219	NM_000065.5(C6):c.2621C>T (p.Ser874Leu)	C6 (S874L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386037	NM_000065.5(C6):c.2605G>A (p.Asp869Asn)	C6 (D869N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2021983	NM_000065.5(C6):c.2568C>T (p.Ser856=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1610383	NM_000065.5(C6):c.2550A>G (p.Thr850=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1489357	NM_000065.5(C6):c.2537G>A (p.Gly846Asp)	C6 (G846D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475133	NM_000065.5(C6):c.2523C>T (p.Arg841=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1503597	NM_000065.5(C6):c.2522G>A (p.Arg841His)	C6 (R841H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1478146	NM_000065.5(C6):c.2521C>T (p.Arg841Cys)	C6 (R841C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731376	NM_000065.5(C6):c.2518G>A (p.Gly840Ser)	C6 (G840S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1632840	NM_000065.5(C6):c.2517C>T (p.Asp839=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960681	NM_000065.5(C6):c.2510G>A (p.Cys837Tyr)	C6 (C837Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1384373	NM_000065.5(C6):c.2507C>T (p.Ser836Phe)	C6 (S836F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903813	NM_000065.5(C6):c.2505T>G (p.Gly835=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2025501	NM_000065.5(C6):c.2493T>C (p.Phe831=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749838	NM_000065.5(C6):c.2487C>G (p.Leu829=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1424707	NM_000065.5(C6):c.2461G>A (p.Glu821Lys)	C6 (E821K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793992	NM_000065.5(C6):c.2451G>A (p.Lys817=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988501	NM_000065.5(C6):c.2443G>A (p.Ala815Thr)	C6 (A815T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058437	NM_000065.5(C6):c.2442C>T (p.Pro814=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958446	NM_000065.5(C6):c.2442C>G (p.Pro814=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975647	NM_000065.5(C6):c.2436_2440del (p.Ser813fs)	C6 (S813fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 786054	NM_000065.5(C6):c.2435C>T (p.Thr812Ile)	C6 (T812I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3008037	NM_000065.5(C6):c.2426A>G (p.Asp809Gly)	C6 (D809G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975651	NM_000065.5(C6):c.2424C>T (p.Asn808=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985079	NM_000065.5(C6):c.2416_2422dup (p.Asn808fs)	C6 (N808fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1323996	NM_000065.5(C6):c.2406_2407del (p.Val802_Phe803insTer)	C6	Microsatellite (frameshift variant)	Complement component 6 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1151962	NM_000065.5(C6):c.2391AGA[1] (p.Glu798del)	C6 (E798del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2975940	NM_000065.5(C6):c.2382-5G>C	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977410	NM_000065.5(C6):c.2382-13C>T	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906782	NM_000065.5(C6):c.2382-18C>G	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1620395	NM_000065.5(C6):c.2381+9T>C	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976340	NM_000065.5(C6):c.2381+7G>A	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 379370	NM_000065.5(C6):c.2381+2T>C	C6	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2151999	NM_000065.5(C6):c.2370A>C (p.Glu790Asp)	C6 (E790D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166329	NM_000065.5(C6):c.2337A>G (p.Gln779=)	C6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1355115	NM_000065.5(C6):c.2335_2336del (p.Gln779fs)	C6 (Q779fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2755564	NM_000065.5(C6):c.2335C>T (p.Gln779Ter)	C6 (Q779*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2247897	NM_000065.5(C6):c.2317T>C (p.Cys773Arg)	C6 (C773R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296834	NM_000065.5(C6):c.2315A>G (p.His772Arg)	C6 (H772R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1980538	NM_000065.5(C6):c.2312G>T (p.Gly771Val)	C6 (G771V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800265	NM_000065.5(C6):c.2304del (p.Lys768fs)	C6 (K768fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1558897	NM_000065.5(C6):c.2296C>T (p.Leu766=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1490099	NM_000065.5(C6):c.2291-1G>A	C6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2995518	NM_000065.5(C6):c.2291-13T>C	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635222	NM_000065.5(C6):c.2290+18G>C	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780545	NM_000065.5(C6):c.2290+17T>C	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1492590	NM_000065.5(C6):c.2290+1G>T	C6	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1168091	NM_000065.5(C6):c.2288A>G (p.Lys763Arg)	C6 (K763R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1351803	NM_000065.5(C6):c.2281T>C (p.Cys761Arg)	C6 (C761R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1063493	NM_000065.5(C6):c.2273C>T (p.Ser758Phe)	C6 (S758F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3136059	NM_000065.5(C6):c.2242G>A (p.Gly748Arg)	C6 (G748R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1595680	NM_000065.5(C6):c.2232C>T (p.Tyr744=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2030381	NM_000065.5(C6):c.2197_2205del (p.Pro733_Gly735del)	C6	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1404712	NM_000065.5(C6):c.2197C>T (p.Pro733Ser)	C6 (P733S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2159747	NM_000065.5(C6):c.2196C>T (p.Cys732=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2000727	NM_000065.5(C6):c.2185G>A (p.Glu729Lys)	C6 (E729K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1422047	NM_000065.5(C6):c.2160A>T (p.Arg720Ser)	C6 (R720S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901477	NM_000065.5(C6):c.2148A>C (p.Thr716=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2163349	NM_000065.5(C6):c.2139G>A (p.Leu713=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931949	NM_000065.5(C6):c.2134G>A (p.Val712Ile)	C6 (V712I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894481	NM_000065.5(C6):c.2123T>C (p.Val708Ala)	C6 (V708A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810046	NM_000065.5(C6):c.2122G>A (p.Val708Ile)	C6 (V708I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1534189	NM_000065.5(C6):c.2118G>A (p.Lys706=)	C6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1436325	NM_000065.5(C6):c.2105C>T (p.Thr702Met)	C6 (T702M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3004037	NM_000065.5(C6):c.2101+17C>T	C6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1381944	NM_000065.5(C6):c.2101+3G>T	C6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2572986	NM_000065.5(C6):c.2101C>A (p.Arg701=)	C6	Single nucleotide variant (synonymous variant)	Complement component 6 deficiency	GLikely pathogenic
Select item 1382094	NM_000065.5(C6):c.2101C>T (p.Arg701Trp)	C6 (R701W)	Single nucleotide variant (missense variant)	Complement component 6 deficiency +1 more	GUncertain significance

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