"Ambry Genetics"[submitter] AND "C3"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2304585	NM_000064.4(C3):c.4371C>G (p.Asp1457Glu)	C3 (D1457E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2232675	NM_000064.4(C3):c.4352T>C (p.Val1451Ala)	C3 (V1451A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3135988	NM_000064.4(C3):c.4258C>G (p.Gln1420Glu)	C3 (Q1420E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397653	NM_000064.4(C3):c.4178G>A (p.Arg1393Gln)	C3 (R1393Q)	Single nucleotide variant (missense variant)	not provided +1 more	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 1038496	NM_000064.4(C3):c.3914C>A (p.Ser1305Tyr)	C3 (S1305Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2397781	NM_000064.4(C3):c.3761G>A (p.Arg1254His)	C3 (R1254H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1910079	NM_000064.4(C3):c.3667C>T (p.Pro1223Ser)	C3 (P1223S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 1960510	NM_000064.4(C3):c.3563C>T (p.Thr1188Ile)	C3 (T1188I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1411672	NM_000064.4(C3):c.3401G>A (p.Arg1134Gln)	C3 (R1134Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 2613396	NM_000064.4(C3):c.3277A>G (p.Ile1093Val)	C3 (I1093V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296027	NM_000064.4(C3):c.3152A>C (p.Lys1051Thr)	C3 (K1051T)	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 2144961	NM_000064.4(C3):c.2833C>T (p.Arg945Cys)	C3 (R945C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2618079	NM_000064.4(C3):c.2650C>A (p.Gln884Lys)	C3 (Q884K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2683472	NM_000064.4(C3):c.2345C>T (p.Pro782Leu)	C3 (P782L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2310802	NM_000064.4(C3):c.2264T>C (p.Ile755Thr)	C3 (I755T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1045785	NM_000064.4(C3):c.2204G>A (p.Arg735Gln)	C3 (R735Q)	Single nucleotide variant (missense variant)	not provided +4 more	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 2397655	NM_000064.4(C3):c.1963G>A (p.Ala655Thr)	C3 (A655T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200865	NM_000064.4(C3):c.1955A>C (p.Gln652Pro)	C3 (Q652P)	Single nucleotide variant (missense variant)	not provided +1 more	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 2535518	NM_000064.4(C3):c.1700G>C (p.Ser567Thr)	C3 (S567T)	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 1910885	NM_000064.4(C3):c.1537G>A (p.Asp513Asn)	C3 (D513N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2514738	NM_000064.4(C3):c.1523G>A (p.Arg508Gln)	C3 (R508Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308733	NM_000064.4(C3):c.1392G>C (p.Glu464Asp)	C3 (E464D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1494211	NM_000064.4(C3):c.1385G>A (p.Arg462His)	C3 (R462H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 449567	NM_000064.4(C3):c.1273C>T (p.Arg425Cys)	C3 (R425C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	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 1011735	NM_000064.4(C3):c.1027C>T (p.Arg343Cys)	C3 (R343C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 17057	NM_000064.4(C3):c.941C>T (p.Pro314Leu)	C3 (P314L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GBenign
Select item 2514800	NM_000064.4(C3):c.758T>C (p.Val253Ala)	C3 (V253A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 17056	NM_000064.4(C3):c.304C>G (p.Arg102Gly)	C3 (R102G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +3 more	GBenign
Select item 1485719	NM_000064.4(C3):c.283G>A (p.Glu95Lys)	C3 (E95K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1924766	NM_000064.4(C3):c.95A>T (p.Asn32Ile)	C3 (N32I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 41