ClinVar for Gene (Select 718) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262509	NM_000064.4(C3):c.4322G>T (p.Arg1441Met)	C3 (R1441M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262508	NM_000064.4(C3):c.4280G>C (p.Arg1427Thr)	C3 (R1427T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257541	NM_000064.4(C3):c.2558del (p.Asn853fs)	C3 (N853fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3257421	NM_000064.4(C3):c.3613C>A (p.Pro1205Thr)	C3 (P1205T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251095	NM_000064.4(C3):c.367G>A (p.Val123Ile)	C3 (V123I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242630	NC_000019.9:g.(?_6707791)_(6720600_?)dup	C3	Duplication	not provided	GUncertain significance
Select item 3242629	NC_000019.9:g.(?_6709675)_(6720600_?)dup	C3	Duplication	not provided	GUncertain significance
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 3242627	NC_000019.9:g.(?_6677893)_(6682260_?)del	C3	Deletion	not provided	GUncertain significance
Select item 3135989	NM_000064.4(C3):c.4570G>C (p.Asp1524His)	C3 (D1524H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135988	NM_000064.4(C3):c.4258C>G (p.Gln1420Glu)	C3 (Q1420E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135987	NM_000064.4(C3):c.3982G>A (p.Glu1328Lys)	C3 (E1328K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135986	NM_000064.4(C3):c.2863+6T>A	C3	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3135985	NM_000064.4(C3):c.2140A>G (p.Ile714Val)	C3 (I714V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135984	NM_000064.4(C3):c.1702G>C (p.Gly568Arg)	C3 (G568R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135983	NM_000064.4(C3):c.1553C>A (p.Pro518His)	C3 (P518H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135982	NM_000064.4(C3):c.1184A>G (p.Asp395Gly)	C3 (D395G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065051	NM_000064.4(C3):c.2740G>A (p.Ala914Thr)	C3 (A914T)	Single nucleotide variant (missense variant)	Complement component 3 deficiency	GUncertain significance
Select item 3063665	NM_000064.4(C3):c.1774C>T (p.Arg592Trp)	C3 (R592W)	Single nucleotide variant (missense variant)	Familial Atypical Hemolytic-Uremic Syndrome +1 more	GLikely pathogenic
Select item 3063639	NM_000064.4(C3):c.555G>C (p.Gln185His)	C3 (Q185H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061496	NM_000064.4(C3):c.3899T>A (p.Leu1300Gln)	C3 (L1300Q)	Single nucleotide variant (missense variant)	C3-related disorder	GUncertain significance
Select item 3031691	NM_000064.4(C3):c.587C>T (p.Pro196Leu)	C3 (P196L)	Single nucleotide variant (missense variant)	C3-related disorder	GUncertain significance
Select item 3030962	NM_000064.4(C3):c.315C>G (p.Phe105Leu)	C3 (F105L)	Single nucleotide variant (missense variant)	C3-related disorder	GUncertain significance
Select item 3022466	NM_000064.4(C3):c.4811T>C (p.Met1604Thr)	C3 (M1604T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021750	NM_000064.4(C3):c.2232G>A (p.Leu744=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017844	NM_000064.4(C3):c.1531G>A (p.Gly511Ser)	C3 (G511S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015041	NM_000064.4(C3):c.4519C>T (p.Arg1507Cys)	C3 (R1507C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013864	NM_000064.4(C3):c.3214C>T (p.Arg1072Trp)	C3 (R1072W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013086	NM_000064.4(C3):c.774-5C>T	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012516	NM_000064.4(C3):c.3155-17CT[3]	C3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3012199	NM_000064.4(C3):c.1270-16del	C3	Deletion (intron variant)	not provided	GLikely benign
Select item 3012183	NM_000064.4(C3):c.3811-13T>G	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011049	NM_000064.4(C3):c.2127C>T (p.Arg709=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010879	NM_000064.4(C3):c.3391-15T>C	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007341	NM_000064.4(C3):c.4326C>T (p.Asn1442=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006341	NM_000064.4(C3):c.1976-13G>A	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005496	NM_000064.4(C3):c.4630+19G>A	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005257	NM_000064.4(C3):c.1120-18C>A	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003233	NM_000064.4(C3):c.2712G>T (p.Lys904Asn)	C3 (K904N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3002992	NM_000064.4(C3):c.3231-3C>T	C3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3002516	NM_000064.4(C3):c.1975+13C>T	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002296	NM_000064.4(C3):c.1809C>T (p.Phe603=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001428	NM_000064.4(C3):c.2669C>A (p.Pro890His)	C3 (P890H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001284	NM_000064.4(C3):c.1050C>T (p.Thr350=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000474	NM_000064.4(C3):c.1846-5C>G	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999910	NM_000064.4(C3):c.4850+20G>T	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998729	NM_000064.4(C3):c.683-18A>G	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997884	NM_000064.4(C3):c.735C>G (p.Ile245Met)	C3 (I245M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997162	NM_000064.4(C3):c.4161G>A (p.Glu1387=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993491	NM_000064.4(C3):c.2464G>A (p.Glu822Lys)	C3 (E822K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993211	NM_000064.4(C3):c.3880C>T (p.Leu1294Phe)	C3 (L1294F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992625	NM_000064.4(C3):c.262T>C (p.Phe88Leu)	C3 (F88L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992347	NM_000064.4(C3):c.267+10G>T	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991824	NM_000064.4(C3):c.1146T>C (p.Ser382=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991667	NM_000064.4(C3):c.268-16C>T	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991620	NM_000064.4(C3):c.3396A>G (p.Gly1132=)	C3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2991031	NM_000064.4(C3):c.3155-17C>T	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990479	NM_000064.4(C3):c.433+11G>A	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990219	NM_000064.4(C3):c.4715-18C>T	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988123	NM_000064.4(C3):c.1443C>T (p.Arg481=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987882	NM_000064.4(C3):c.114C>T (p.Ser38=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986104	NM_000064.4(C3):c.3188G>A (p.Ser1063Asn)	C3 (S1063N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2986047	NM_000064.4(C3):c.4887G>C (p.Glu1629Asp)	C3 (E1629D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985810	NM_000064.4(C3):c.148C>G (p.Gln50Glu)	C3 (Q50E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985616	NM_000064.4(C3):c.1911T>C (p.Gly637=)	C3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2984857	NM_000064.4(C3):c.773+16T>C	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983862	NM_000064.4(C3):c.2718C>A (p.Gly906=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983009	NM_000064.4(C3):c.1384C>T (p.Arg462Cys)	C3 (R462C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982590	NM_000064.4(C3):c.1718G>A (p.Arg573Gln)	C3 (R573Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982080	NM_000064.4(C3):c.4846C>G (p.Pro1616Ala)	C3 (P1616A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981273	NM_000064.4(C3):c.4030-17C>T	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981134	NM_000064.4(C3):c.3154+9C>T	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980159	NM_000064.4(C3):c.876+18C>T	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978868	NM_000064.4(C3):c.4180G>C (p.Gly1394Arg)	C3 (G1394R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976955	NM_000064.4(C3):c.1940C>G (p.Thr647Arg)	C3 (T647R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975387	NM_000064.4(C3):c.267+15G>T	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975173	NM_000064.4(C3):c.2035C>A (p.Arg679=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975082	NM_000064.4(C3):c.924G>T (p.Leu308=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974878	NM_000064.4(C3):c.4748C>T (p.Thr1583Met)	C3 (T1583M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974833	NM_000064.4(C3):c.911G>C (p.Arg304Pro)	C3 (R304P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973271	NM_000064.4(C3):c.2105C>T (p.Pro702Leu)	C3 (P702L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973024	NM_000064.4(C3):c.4073G>T (p.Cys1358Phe)	C3 (C1358F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973012	NM_000064.4(C3):c.1733G>A (p.Gly578Glu)	C3 (G578E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972902	NM_000064.4(C3):c.2290C>T (p.Arg764Ter)	C3 (R764*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2972324	NM_000064.4(C3):c.3750T>C (p.Pro1250=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972252	NM_000064.4(C3):c.1004-16C>G	C3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2970449	NM_000064.4(C3):c.52C>T (p.Pro18Ser)	C3 (P18S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970252	NM_000064.4(C3):c.3640G>C (p.Ala1214Pro)	C3 (A1214P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2969021	NM_000064.4(C3):c.1404G>A (p.Gly468=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968458	NM_000064.4(C3):c.3144C>T (p.Leu1048=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967362	NM_000064.4(C3):c.4216T>C (p.Ser1406Pro)	C3 (S1406P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966985	NM_000064.4(C3):c.2017G>A (p.Val673Met)	C3 (V673M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966903	NM_000064.4(C3):c.1941G>A (p.Thr647=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966868	NM_000064.4(C3):c.1270-5C>T	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962175	NM_000064.4(C3):c.2354+14A>T	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961178	NM_000064.4(C3):c.2931G>A (p.Glu977=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960986	NM_000064.4(C3):c.74+13G>A	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959842	NM_000064.4(C3):c.4951G>T (p.Ala1651Ser)	C3 (A1651S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959396	NM_000064.4(C3):c.683-17C>T	C3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958307	NM_000064.4(C3):c.2655C>G (p.Thr885=)	C3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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