ClinVar for MedGen (Select 461625) - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076005	NM_000063.6(C2):c.1063C>T (p.Arg355Ter)	C2, C2-AS1 (R109* +4 more)	Single nucleotide variant (nonsense)	Complement component 2 deficiency	GUncertain significance
Select item 1165861	NM_000063.6(C2):c.1567+22_1567+43del	C2	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1032161	NM_000063.6(C2):c.2171C>T (p.Pro724Leu)	C2 (P695L +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 992548	NM_000063.6(C2):c.849+59G>A	C2 (C303Y)	Single nucleotide variant (missense variant +1 more)	Complement component 2 deficiency +1 more	GUncertain significance
Select item 973621	NM_000063.6(C2):c.1399A>C (p.Asn467His)	C2 (N335H +4 more)	Single nucleotide variant (missense variant)	Complement component 2 deficiency	GUncertain significance
Select item 915386	NM_000063.6(C2):c.839_849del (p.Met280fs)	C2 (M251fs +2 more)	Deletion (frameshift variant +1 more)	Complement component 2 deficiency	GLikely pathogenic
Select item 908037	NM_000063.6(C2):c.1577A>G (p.Lys526Arg)	C2, CFB (K312R +4 more)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +5 more	GConflicting classifications of pathogenicity
Select item 907959	NM_000063.6(C2):c.936C>G (p.Asn312Lys)	C2, C2-AS1 (N66K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 907958	NM_000063.6(C2):c.929A>G (p.Asn310Ser)	C2, C2-AS1 (N178S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 907957	NM_000063.6(C2):c.913C>T (p.Leu305Phe)	C2, C2-AS1 (L276F +3 more)	Single nucleotide variant (missense variant +1 more)	Age related macular degeneration 14 +1 more	GUncertain significance
Select item 907956	NM_000063.6(C2):c.819C>T (p.Phe273=)	C2	Single nucleotide variant (synonymous variant +1 more)	Complement component 2 deficiency +2 more	GUncertain significance
Select item 907892	NM_000063.6(C2):c.-21G>A	C2	Single nucleotide variant (5 prime UTR variant +1 more)	Age related macular degeneration 14 +1 more	GUncertain significance
Select item 907891	NM_000063.6(C2):c.-36G>A	C2	Single nucleotide variant (5 prime UTR variant +1 more)	Age related macular degeneration 14 +1 more	GUncertain significance
Select item 907047	NM_000063.6(C2):c.*141C>T	C2	Single nucleotide variant (3 prime UTR variant)	Complement component 2 deficiency +1 more	GUncertain significance
Select item 906982	NM_000063.6(C2):c.749C>G (p.Ser250Cys)	C2 (S221C +2 more)	Single nucleotide variant (missense variant +1 more)	Complement component 2 deficiency +2 more	GUncertain significance
Select item 906981	NM_000063.6(C2):c.443-4G>A	C2 (R22H)	Single nucleotide variant (missense variant +3 more)	Complement component 2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 906980	NM_000063.6(C2):c.442+15T>G	C2	Single nucleotide variant (genic upstream transcript variant +1 more)	Complement component 2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 906979	NM_000063.6(C2):c.386G>A (p.Arg129His)	C2 (R100H +1 more)	Single nucleotide variant (missense variant +2 more)	Complement component 2 deficiency +2 more	GUncertain significance
Select item 906027	NM_000063.6(C2):c.2200C>T (p.Arg734Cys)	C2 (R488C +4 more)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 905958	NM_000063.6(C2):c.1413C>T (p.Asn471=)	C2	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 905517	NM_000063.6(C2):c.1981G>A (p.Asp661Asn)	C2 (D415N +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 905443	NM_000063.6(C2):c.1169A>C (p.Asp390Ala)	C2, C2-AS1 (D144A +4 more)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +2 more	GUncertain significance
Select item 905442	NM_000063.6(C2):c.1109C>T (p.Ala370Val)	C2, C2-AS1 (A370V +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 905441	NM_000063.6(C2):c.1082C>T (p.Thr361Met)	C2, C2-AS1 (T229M +4 more)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +1 more	GUncertain significance
Select item 905374	NM_000063.6(C2):c.337G>A (p.Val113Met)	C2 (V84M +1 more)	Single nucleotide variant (missense variant +2 more)	Age related macular degeneration 14 +1 more	GUncertain significance
Select item 905373	NM_000063.6(C2):c.283T>G (p.Phe95Val)	C2 (F66V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 905372	NM_000063.6(C2):c.245C>T (p.Ala82Val)	C2 (A82V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 904797	NM_000063.6(C2):c.*286T>C	C2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 14 +1 more	GUncertain significance
Select item 904727	NM_000063.6(C2):c.1613C>T (p.Ala538Val)	C2 (A406V +4 more)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 904652	NM_000063.6(C2):c.980A>G (p.Asn327Ser)	C2, C2-AS1 (N298S +3 more)	Single nucleotide variant (missense variant +1 more)	Complement component 2 deficiency +2 more	GUncertain significance
Select item 904586	NM_000063.6(C2):c.149C>T (p.Ser50Phe)	C2 (S50F +1 more)	Single nucleotide variant (missense variant +2 more)	Age related macular degeneration 14 +1 more	GUncertain significance
Select item 904585	NM_000063.6(C2):c.109C>T (p.Leu37Phe)	C2 (L37F)	Single nucleotide variant (missense variant +3 more)	Age related macular degeneration 14 +1 more	GUncertain significance
Select item 904584	NM_000063.6(C2):c.73C>T (p.Pro25Ser)	C2 (P25S)	Single nucleotide variant (missense variant +3 more)	Complement component 2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 625900	NM_000063.6(C2):c.988+5G>A	C2, C2-AS1	Single nucleotide variant (intron variant)	Age related macular degeneration 14 +1 more	GUncertain significance
Select item 369520	NM_000063.6(C2):c.1778G>A (p.Arg593Gln)	C2, CFB (R379Q +4 more)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 356290	NM_001710.6(CFB):c.1524C>T (p.His508=)	C2, CFB	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +4 more	GBenign/Likely benign
Select item 356287	NM_001710.6(CFB):c.1365C>T (p.Val455=)	C2, CFB	Single nucleotide variant (synonymous variant)	Macular degeneration +4 more	GBenign/Likely benign
Select item 356285	NM_001710.6(CFB):c.1143C>T (p.Arg381=)	C2, CFB	Single nucleotide variant (synonymous variant)	Macular degeneration +4 more	GBenign/Likely benign
Select item 356284	NM_001710.6(CFB):c.1137C>T (p.Arg379=)	C2, CFB	Single nucleotide variant (synonymous variant)	Macular degeneration +8 more	GBenign/Likely benign
Select item 356281	NM_001710.6(CFB):c.858C>T (p.Phe286=)	C2, CFB	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +5 more	GBenign/Likely benign
Select item 356280	NM_001710.6(CFB):c.754G>A (p.Gly252Ser)	C2, CFB (G252S)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +4 more	GBenign/Likely benign
Select item 356277	NM_001710.6(CFB):c.672C>T (p.Tyr224=)	C2, CFB	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 356273	NM_001710.6(CFB):c.504G>A (p.Pro168=)	C2, CFB	Single nucleotide variant (synonymous variant)	Macular degeneration +4 more	GBenign/Likely benign
Select item 356272	NM_001710.6(CFB):c.450A>G (p.Arg150=)	C2, CFB	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +4 more	GBenign
Select item 356271	NM_001710.6(CFB):c.405C>T (p.Tyr135=)	C2, CFB	Single nucleotide variant (synonymous variant)	Macular degeneration +4 more	GBenign/Likely benign
Select item 356268	NM_001710.6(CFB):c.221G>A (p.Arg74His)	C2, CFB (R74H)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 356265	NM_000063.6(C2):c.*304A>G	C2, CFB	Single nucleotide variant (3 prime UTR variant)	Atypical hemolytic-uremic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 356264	NM_000063.6(C2):c.*183C>T	C2	Single nucleotide variant (3 prime UTR variant)	Complement component 2 deficiency +2 more	GUncertain significance
Select item 356263	NM_000063.6(C2):c.*120T>C	C2	Single nucleotide variant (3 prime UTR variant)	Complement component 2 deficiency +1 more	GUncertain significance
Select item 356262	NM_000063.6(C2):c.*82C>T	C2	Single nucleotide variant (3 prime UTR variant)	Complement component 2 deficiency +2 more	GUncertain significance
Select item 356261	NM_000063.6(C2):c.2253C>T (p.Pro751=)	C2	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 356260	NM_000063.6(C2):c.2201G>T (p.Arg734Leu)	C2 (R734L +4 more)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +3 more	GUncertain significance
Select item 356259	NM_000063.6(C2):c.2080-8T>C	C2, CFB	Single nucleotide variant (intron variant)	Complement component 2 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 356258	NM_000063.6(C2):c.2046A>G (p.Ala682=)	C2, CFB	Single nucleotide variant (synonymous variant)	Macular degeneration +4 more	GBenign/Likely benign
Select item 356257	NM_000063.6(C2):c.1922T>C (p.Val641Ala)	C2, CFB (V641A +4 more)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +4 more	GBenign/Likely benign
Select item 356256	NM_000063.6(C2):c.1902+6G>C	C2, CFB	Single nucleotide variant (intron variant)	Macular degeneration +4 more	GBenign/Likely benign
Select item 356255	NM_000063.6(C2):c.1902+5G>A	C2	Single nucleotide variant (intron variant)	Complement component 2 deficiency +3 more	GUncertain significance
Select item 356254	NM_000063.6(C2):c.1835G>A (p.Ser612Asn)	C2, CFB (S612N +4 more)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign
Select item 356253	NM_000063.6(C2):c.1716G>C (p.Lys572Asn)	C2 (K572N +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 356252	NM_000063.6(C2):c.1602T>C (p.Leu534=)	C2	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +1 more	GUncertain significance
Select item 356251	NM_000063.6(C2):c.1529G>A (p.Arg510His)	C2, CFB (R510H +4 more)	Single nucleotide variant (missense variant)	Macular degeneration +4 more	GConflicting classifications of pathogenicity
Select item 356250	NM_000063.6(C2):c.1450A>G (p.Ile484Val)	C2, CFB (I484V +4 more)	Single nucleotide variant (missense variant)	Macular degeneration +4 more	GConflicting classifications of pathogenicity
Select item 356249	NM_000063.6(C2):c.1414G>A (p.Ala472Thr)	C2, CFB (A472T +4 more)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 356248	NM_000063.6(C2):c.1239G>C (p.Val413=)	C2	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +1 more	GUncertain significance
Select item 356247	NM_000063.6(C2):c.1130-11C>T	C2, C2-AS1	Single nucleotide variant (intron variant)	Complement component 2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 356246	NM_000063.6(C2):c.1066C>T (p.Leu356Phe)	C2, C2-AS1 (L356F +4 more)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +1 more	GUncertain significance
Select item 356245	NM_000063.6(C2):c.1023G>A (p.Ala341=)	C2, C2-AS1	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +3 more	GBenign
Select item 356244	NM_000063.6(C2):c.313G>A (p.Gly105Arg)	C2 (G105R +1 more)	Single nucleotide variant (missense variant +2 more)	Complement component 2 deficiency +1 more	GUncertain significance
Select item 356243	NM_000063.6(C2):c.218C>T (p.Pro73Leu)	C2 (P73L +1 more)	Single nucleotide variant (missense variant +3 more)	Complement component 2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 356242	NM_000063.6(C2):c.81C>T (p.Asn27=)	C2	Single nucleotide variant (synonymous variant +3 more)	Complement component 2 deficiency +1 more	GUncertain significance
Select item 356241	NM_000063.5(C2):c.-37C>A	C2	Single nucleotide variant (intron variant)	Complement component 2 deficiency +1 more	GUncertain significance
Select item 356240	NM_000063.5(C2):c.-145A>C	C2	Single nucleotide variant (intron variant)	Complement component 2 deficiency +1 more	GLikely benign
Select item 225314	NM_001710.6(CFB):c.1697A>C (p.Glu566Ala)	CFB (E566A)	Single nucleotide variant (missense variant)	Complement factor b deficiency +5 more	GBenign/Likely benign
Select item 225313	NM_001710.6(CFB):c.1598A>G (p.Lys533Arg)	C2, CFB (K533R)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +7 more	GBenign/Likely benign
Select item 50634	NM_000063.6(C2):c.841_849+19del	C2 (V281fs)	Deletion (frameshift variant +2 more)	Age related macular degeneration 14 +3 more	GConflicting classifications of pathogenicity
Select item 16077	NM_001710.6(CFB):c.26T>A (p.Leu9His)	C2, CFB (L9H)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +7 more	GBenign/Likely benign
Select item 16076	NM_001710.5(CFB):c.94C>T (p.Arg32Trp)	C2, CFB (R32W)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +7 more	GBenign/Likely benign
Select item 16075	NM_001710.5(CFB):c.95G>A (p.Arg32Gln)	C2, CFB (R32Q)	Single nucleotide variant (missense variant)	Age related macular degeneration 14 +7 more	GBenign/Likely benign
Select item 12130	NM_000063.6(C2):c.954G>C (p.Glu318Asp)	C2, C2-AS1 (E318D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign

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Items: 79