"Genome-Nilou Lab"[submitter] AND "C3"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 330270	NM_000064.4(C3):c.4896C>T (p.Pro1632=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1192668	NM_000064.4(C3):c.4546+58A>G	C3	Single nucleotide variant (intron variant)	Age related macular degeneration 9 +2 more	GBenign
Select item 330282	NM_000064.4(C3):c.4457-4G>A	C3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1192669	NM_000064.4(C3):c.4457-56A>G	C3	Single nucleotide variant (intron variant)	Age related macular degeneration 9 +2 more	GBenign
Select item 1192670	NM_000064.4(C3):c.3646+98A>G	C3	Single nucleotide variant (intron variant)	Age related macular degeneration 9 +2 more	GBenign
Select item 1192671	NM_000064.4(C3):c.2950+48T>C	C3	Single nucleotide variant (intron variant)	Age related macular degeneration 9 +2 more	GBenign
Select item 1164950	NM_000064.4(C3):c.2864-20A>G	C3	Single nucleotide variant (intron variant)	Complement component 3 deficiency +2 more	GBenign
Select item 1192672	NM_000064.4(C3):c.2863+47G>C	C3	Single nucleotide variant (intron variant)	Age related macular degeneration 9 +2 more	GBenign
Select item 330297	NM_000064.4(C3):c.2863+7C>T	C3	Single nucleotide variant (intron variant)	Age related macular degeneration 9 +3 more	GBenign
Select item 1192550	NM_000064.4(C3):c.2797-21C>A	C3	Single nucleotide variant (intron variant)	Age related macular degeneration 9 +2 more	GBenign
Select item 1192551	NM_000064.4(C3):c.2797-29C>T	C3	Single nucleotide variant (intron variant)	Age related macular degeneration 9 +2 more	GBenign
Select item 330300	NM_000064.4(C3):c.2745T>C (p.Ala915=)	C3	Single nucleotide variant (synonymous variant)	Complement component 3 deficiency +3 more	GBenign
Select item 1192552	NM_000064.4(C3):c.2441-24C>A	C3	Single nucleotide variant (intron variant)	Age related macular degeneration 9 +2 more	GBenign
Select item 1192553	NM_000064.4(C3):c.2440+116C>G	C3	Single nucleotide variant (intron variant)	Complement component 3 deficiency +2 more	GBenign
Select item 1192554	NM_000064.4(C3):c.2440+96T>C	C3	Single nucleotide variant (intron variant)	Age related macular degeneration 9 +2 more	GBenign
Select item 330305	NM_000064.4(C3):c.2421G>C (p.Val807=)	C3	Single nucleotide variant (synonymous variant)	Complement component 3 deficiency +3 more	GBenign
Select item 1192592	NM_000064.4(C3):c.2355-23A>G	C3	Single nucleotide variant (intron variant)	Age related macular degeneration 9 +2 more	GBenign
Select item 330308	NM_000064.4(C3):c.2246-8C>T	C3	Single nucleotide variant (intron variant)	Complement component 3 deficiency +3 more	GBenign
Select item 330317	NM_000064.4(C3):c.1836G>A (p.Thr612=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 330321	NM_000064.4(C3):c.1692G>A (p.Val564=)	C3	Single nucleotide variant (synonymous variant)	Age related macular degeneration 9 +3 more	GBenign
Select item 1192593	NM_000064.4(C3):c.1686+78C>T	C3	Single nucleotide variant (intron variant)	Age related macular degeneration 9 +2 more	GBenign
Select item 1192594	NM_000064.4(C3):c.1686+48TC[8]	C3	Microsatellite (intron variant)	not provided +2 more	GBenign
Select item 330332	NM_000064.4(C3):c.912G>A (p.Arg304=)	C3	Single nucleotide variant (synonymous variant)	Complement component 3 deficiency +3 more	GBenign

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Items: 23