C2 — 456 ClinVar variants
All ClinVar germline C2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 211 flagged for review →
17 Pathogenic · 1 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 29 Conflicting · 7 Benign · 5 Benign/Likely benign · 176 Likely benign · 210 Uncertain significance
Full C2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 211
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 18
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- C2 p.Ala160Ser Conflicting Single submitter
-
C2 p.Ala370Val
Conflicting
Single submitter
complement component 2 deficiency
-
C2 p.Ala538Val
Conflicting
Single submitter
complement component 2 deficiency
- C2 p.Arg355Gln Conflicting Single submitter
- C2 p.Arg421Lys Conflicting Single submitter
-
C2 p.Arg593Gln
Conflicting
Single submitter
age related macular degeneration 14
- C2 p.Arg719His Conflicting Single submitter
-
C2 p.Asn312Lys
Conflicting
Single submitter
complement component 2 deficiency
-
C2 p.Asn327Ser
Conflicting
Single submitter
age related macular degeneration 14
- C2 p.Asp514Asn Conflicting Single submitter
-
C2 p.Ile484Val
Conflicting
Single submitter
age related macular degeneration 14
-
C2 p.Lys526Arg
Conflicting
Single submitter
age related macular degeneration 14
- C2 p.Met735Val Conflicting Single submitter
-
C2 p.Pro724Leu
Conflicting
Single submitter
age related macular degeneration 14
-
C2 p.Pro73Leu
Conflicting
Single submitter
complement component 2 deficiency
- C2 p.Ser637Arg Conflicting Single submitter
- C2 p.Thr222Ala Conflicting Single submitter
- C2 p.Thr442Ala Conflicting Single submitter
Predictors lean, ClinVar uncertain 117
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- C2 p.Ala682Glu Uncertain significance Multiple submitters
- C2 p.Arg124Gln Uncertain significance Multiple submitters
- C2 p.Arg205His Uncertain significance Multiple submitters
- C2 p.Arg243His Uncertain significance Multiple submitters
- C2 p.Arg714Cys Uncertain significance Multiple submitters
- C2 p.Arg714His Uncertain significance Multiple submitters
- C2 p.Arg88His Uncertain significance Multiple submitters
-
C2 p.Asn310Ser
Uncertain significance
Multiple submitters
complement component 2 deficiency
- C2 p.Cys638Tyr Uncertain significance Multiple submitters
- C2 p.Gly105Val Uncertain significance Multiple submitters
- C2 p.Ile320Met Uncertain significance Multiple submitters
- C2 p.Lys415Thr Uncertain significance Multiple submitters
-
C2 p.Lys572Asn
Uncertain significance
Multiple submitters
complement component 2 deficiency
- C2 p.Pro583Arg Uncertain significance Multiple submitters
- C2 p.Ser31Leu Uncertain significance Multiple submitters
- C2 p.Thr184Ala Uncertain significance Multiple submitters
- C2 p.Thr478Lys Uncertain significance Multiple submitters
- C2 p.Trp699Cys Uncertain significance Multiple submitters
- C2 p.Ala148Thr Uncertain significance Single submitter
- C2 p.Ala219Asp Uncertain significance Single submitter
- C2 p.Ala341Glu Uncertain significance Single submitter
- C2 p.Ala363Thr Uncertain significance Single submitter
- C2 p.Ala682Gly Uncertain significance Single submitter
- C2 p.Ala75Thr Uncertain significance Single submitter
- C2 p.Arg129Cys Uncertain significance Single submitter
- C2 p.Arg205Pro Uncertain significance Single submitter
- C2 p.Arg243Cys Uncertain significance Single submitter
- C2 p.Arg249His Uncertain significance Single submitter
- C2 p.Arg249Ser Uncertain significance Single submitter
- C2 p.Arg314Gln Uncertain significance Single submitter
- C2 p.Arg368Gln Uncertain significance Single submitter
- C2 p.Arg368Pro Uncertain significance Single submitter
- C2 p.Arg493Gln Uncertain significance Single submitter
- C2 p.Arg687Gln Uncertain significance Single submitter
- C2 p.Arg734Ser Uncertain significance Single submitter
- C2 p.Asn134Lys Uncertain significance Single submitter
- C2 p.Asn146Ser Uncertain significance Single submitter
- C2 p.Asn194Asp Uncertain significance Single submitter
- C2 p.Asn312Ser Uncertain significance Single submitter
- C2 p.Asn712His Uncertain significance Single submitter
- C2 p.Asp260Asn Uncertain significance Single submitter
- C2 p.Asp282His Uncertain significance Single submitter
- C2 p.Asp311Asn Uncertain significance Single submitter
- C2 p.Asp315Asn Uncertain significance Single submitter
- C2 p.Asp376Gly Uncertain significance Single submitter
- C2 p.Asp511Asn Uncertain significance Single submitter
- C2 p.Asp745Asn Uncertain significance Single submitter
- C2 p.Cys117Arg Uncertain significance Single submitter
- C2 p.Cys675Gly Uncertain significance Single submitter
- C2 p.Gln206Glu Uncertain significance Single submitter
- C2 p.Gln53Arg Uncertain significance Single submitter
- C2 p.Glu116Lys Uncertain significance Single submitter
- C2 p.Glu275Asp Uncertain significance Single submitter
-
C2 p.Glu433Gly
Uncertain significance
Single submitter
complement component 2 deficiency
- C2 p.Glu556Lys Uncertain significance Single submitter
-
C2 p.Gly105Arg
Uncertain significance
Single submitter
complement component 2 deficiency
-
C2 p.Gly16Arg
Uncertain significance
Single submitter
complement component 2 deficiency
- C2 p.Gly195Arg Uncertain significance Single submitter
- C2 p.Gly229Arg Uncertain significance Single submitter
- C2 p.Gly412Arg Uncertain significance Single submitter
- C2 p.Gly464Arg Uncertain significance Single submitter
- C2 p.Gly543Glu Uncertain significance Single submitter
- C2 p.His391Tyr Uncertain significance Single submitter
- C2 p.His481Leu Uncertain significance Single submitter
- C2 p.His515Pro Uncertain significance Single submitter
- C2 p.His616Tyr Uncertain significance Single submitter
- C2 p.Ile289Val Uncertain significance Single submitter
-
C2 p.Leu356Phe
Uncertain significance
Single submitter
complement component 2 deficiency
- C2 p.Leu396Pro Uncertain significance Single submitter
- C2 p.Lys401Gln Uncertain significance Single submitter
- C2 p.Lys531Glu Uncertain significance Single submitter
- C2 p.Lys721Glu Uncertain significance Single submitter
- C2 p.Met136Arg Uncertain significance Single submitter
- C2 p.Met280Ile Uncertain significance Single submitter
- C2 p.Met280Val Uncertain significance Single submitter
- C2 p.Met586Ile Uncertain significance Single submitter
- C2 p.Met586Thr Uncertain significance Single submitter
- C2 p.Met648Thr Uncertain significance Single submitter
- C2 p.Phe121Leu Uncertain significance Single submitter
- C2 p.Phe35Ser Uncertain significance Single submitter
- C2 p.Phe684Leu Uncertain significance Single submitter
- C2 p.Phe692Ser Uncertain significance Single submitter
- C2 p.Pro133Thr Uncertain significance Single submitter
- C2 p.Pro385Leu Uncertain significance Single submitter
- C2 p.Pro73Ser Uncertain significance Single submitter
- C2 p.Pro751Ser Uncertain significance Single submitter
- C2 p.Pro751Thr Uncertain significance Single submitter
-
C2 p.Ser186Cys
Uncertain significance
Single submitter
C2-related disorder
- C2 p.Ser240Asn Uncertain significance Single submitter
- C2 p.Ser250Phe Uncertain significance Single submitter
- C2 p.Ser262Leu Uncertain significance Single submitter
- C2 p.Ser266Leu Uncertain significance Single submitter
-
C2 p.Ser266Trp
Uncertain significance
Single submitter
complement component 2 deficiency
- C2 p.Ser322Arg Uncertain significance Single submitter
- C2 p.Ser456Ala Uncertain significance Single submitter
- C2 p.Ser473Ala Uncertain significance Single submitter
- C2 p.Ser498Ala Uncertain significance Single submitter
- C2 p.Ser527Tyr Uncertain significance Single submitter
- C2 p.Ser58Phe Uncertain significance Single submitter
- C2 p.Ser612Arg Uncertain significance Single submitter
- C2 p.Ser623Arg Uncertain significance Single submitter
- C2 p.Ser713Phe Uncertain significance Single submitter
- C2 p.Thr141Ala Uncertain significance Single submitter
- C2 p.Thr184Met Uncertain significance Single submitter
- C2 p.Thr337Ser Uncertain significance Single submitter
- C2 p.Thr636Ile Uncertain significance Single submitter
- C2 p.Thr647Asn Uncertain significance Single submitter
- C2 p.Trp480Arg Uncertain significance Single submitter
- C2 p.Trp518Gly Uncertain significance Single submitter
- C2 p.Tyr175Cys Uncertain significance Single submitter
- C2 p.Tyr702His Uncertain significance Single submitter
-
C2 p.Val113Met
Uncertain significance
Single submitter
complement component 2 deficiency
- C2 p.Val448Leu Uncertain significance Single submitter
- C2 p.Val455Ala Uncertain significance Single submitter
- C2 p.Val465Leu Uncertain significance Single submitter
- C2 p.Val683Ala Uncertain significance Single submitter
-
C2 p.Asn467His
Uncertain significance
No assertion criteria
complement component 2 deficiency
Predictors split 76
The independent predictors disagree with each other — read with care.
-
C2 p.Ala472Thr
Likely benign
Multiple submitters
age related macular degeneration 14
-
C2 p.Arg129His
Uncertain significance
Multiple submitters
complement component 2 deficiency
- C2 p.Arg174Cys Uncertain significance Multiple submitters
- C2 p.Arg176Cys Uncertain significance Multiple submitters
- C2 p.Arg593Trp Uncertain significance Multiple submitters
-
C2 p.Arg734Leu
Uncertain significance
Multiple submitters
complement component 2 deficiency
-
C2 p.Asp390Ala
Uncertain significance
Multiple submitters
complement component 2 deficiency
- C2 p.Asp499Asn Uncertain significance Multiple submitters
-
C2 p.Asp661Asn
Uncertain significance
Multiple submitters
complement component 2 deficiency
-
C2 p.Glu318Asp
Benign/Likely benign
Multiple submitters
age related macular degeneration 14
- C2 p.Gly149Ala Uncertain significance Multiple submitters
-
C2 p.Phe95Val
Uncertain significance
Multiple submitters
complement component 2 deficiency
- C2 p.Ser20Leu Uncertain significance Multiple submitters
-
C2 p.Ser250Cys
Uncertain significance
Multiple submitters
complement component 2 deficiency
- C2 p.Val109Met Uncertain significance Multiple submitters
- C2 p.Ala160Thr Likely benign Single submitter
- C2 p.Ala277Thr Uncertain significance Single submitter
- C2 p.Ala495Val Uncertain significance Single submitter
-
C2 p.Ala82Val
Conflicting
Single submitter
complement component 2 deficiency
- C2 p.Ala91Thr Uncertain significance Single submitter
- C2 p.Arg124Trp Uncertain significance Single submitter
- C2 p.Arg162Gln Uncertain significance Single submitter
- C2 p.Arg205Cys Uncertain significance Single submitter
- C2 p.Arg249Cys Uncertain significance Single submitter
- C2 p.Arg314Gly Uncertain significance Single submitter
- C2 p.Arg314Trp Uncertain significance Single submitter
- C2 p.Arg510Cys Uncertain significance Single submitter
- C2 p.Arg601Gly Uncertain significance Single submitter
- C2 p.Arg62Gln Uncertain significance Single submitter
- C2 p.Arg62Trp Uncertain significance Single submitter
- C2 p.Arg719Cys Uncertain significance Single submitter
-
C2 p.Arg734Cys
Conflicting
Single submitter
age related macular degeneration 14
- C2 p.Arg734His Uncertain significance Single submitter
- C2 p.Arg77Trp Uncertain significance Single submitter
- C2 p.Arg88Cys Uncertain significance Single submitter
- C2 p.Asn194Lys Uncertain significance Single submitter
- C2 p.Asn27Lys Uncertain significance Single submitter
- C2 p.Asn380Ser Uncertain significance Single submitter
- C2 p.Asp315Tyr Uncertain significance Single submitter
- C2 p.Asp514Tyr Uncertain significance Single submitter
- C2 p.Asp654His Uncertain significance Single submitter
- C2 p.Cys9Arg Uncertain significance Single submitter
- C2 p.Gln736His Uncertain significance Single submitter
- C2 p.Glu556Ala Uncertain significance Single submitter
- C2 p.Gly195Glu Uncertain significance Single submitter
- C2 p.Gly54Ser Uncertain significance Single submitter
- C2 p.Gly68Arg Uncertain significance Single submitter
- C2 p.His369Asn Uncertain significance Single submitter
- C2 p.Ile295Leu Uncertain significance Single submitter
- C2 p.Ile30Met Uncertain significance Single submitter
- C2 p.Leu13Pro Uncertain significance Single submitter
- C2 p.Leu37Ile Uncertain significance Single submitter
-
C2 p.Leu37Phe
Uncertain significance
Single submitter
age related macular degeneration 14
- C2 p.Leu458His Uncertain significance Single submitter
- C2 p.Leu46Phe Uncertain significance Single submitter
- C2 p.Leu607Val Uncertain significance Single submitter
- C2 p.Lys676Asn Uncertain significance Single submitter
- C2 p.Phe733Leu Uncertain significance Single submitter
- C2 p.Pro152Ser Uncertain significance Single submitter
- C2 p.Pro213Thr Uncertain significance Single submitter
-
C2 p.Pro25Ser
Conflicting
Single submitter
complement component 2 deficiency
- C2 p.Pro59Gln Uncertain significance Single submitter
- C2 p.Pro723Leu Uncertain significance Single submitter
- C2 p.Pro723Ser Uncertain significance Single submitter
- C2 p.Pro725Leu Uncertain significance Single submitter
- C2 p.Pro86Ser Uncertain significance Single submitter
- C2 p.Ser126Leu Uncertain significance Single submitter
-
C2 p.Ser50Phe
Uncertain significance
Single submitter
age related macular degeneration 14
- C2 p.Thr200Met Uncertain significance Single submitter
- C2 p.Thr297Ser Uncertain significance Single submitter
- C2 p.Thr339Asn Uncertain significance Single submitter
-
C2 p.Thr361Met
Uncertain significance
Single submitter
complement component 2 deficiency
- C2 p.Tyr100His Uncertain significance Single submitter
- C2 p.Val173Ile Uncertain significance Single submitter
- C2 p.Val87Leu Uncertain significance Single submitter
-
C2 p.Ser209Phe
Pathogenic
No assertion criteria
C2 deficiency, type II
All C2 variants
Pathogenic 17
- c.1902+1G>A Single submitter complement component 2 deficiency
- p.Ala495fs Single submitter
- p.Arg368Ter Single submitter
- p.Gln552Ter Single submitter
- p.Glu324Ter Single submitter
- p.Gly597fs Single submitter
- p.Leu13fs Single submitter
- p.Leu79fs Single submitter
- p.Met306fs Single submitter
- p.Pro92fs Single submitter complement component 2 deficiency
- p.Ser266fs Single submitter
- p.Ser456fs Single submitter
- p.Tyr210fs Single submitter
- p.Tyr210Ter Single submitter
- p.Tyr256Ter Single submitter
- p.Tyr405Ter Single submitter
- p.Ser209Phe No assertion criteria C2 deficiency, type II ⚠
Pathogenic/Likely pathogenic 1
- c.841_849+19del Multiple submitters C2-related disorder
Likely pathogenic 11
- p.Lys610fs Multiple submitters complement component 2 deficiency
- c.1360+1G>A Single submitter
- c.1361-1G>T Single submitter
- c.1733+1G>A Single submitter
- c.1810+2T>G Single submitter
- c.2030-1G>A Single submitter
- c.616+1G>A Single submitter
- c.616+2T>G Single submitter
- c.715+1G>T Single submitter
- p.Asp561_Ile562delinsGluTer Single submitter complement component 2 deficiency
- p.Met280fs Single submitter complement component 2 deficiency
Conflicting classifications of pathogenicity 29
- c.1130-11C>T Single submitter complement component 2 deficiency
- c.1219+7C>T Single submitter
- c.2080-8T>C Single submitter age related macular degeneration 14
- c.442+15T>G Single submitter complement component 2 deficiency
- c.443-4G>A Single submitter complement component 2 deficiency
- p.Ala160Ser Single submitter ⚠
- p.Ala370Val Single submitter complement component 2 deficiency ⚠
- p.Ala538Val Single submitter complement component 2 deficiency ⚠
- p.Ala82Val Single submitter complement component 2 deficiency ⚠
- p.Arg355Gln Single submitter ⚠
- p.Arg421Lys Single submitter ⚠
- p.Arg593Gln Single submitter age related macular degeneration 14 ⚠
- p.Arg719His Single submitter ⚠
- p.Arg734Cys Single submitter age related macular degeneration 14 ⚠
- p.Asn312Lys Single submitter complement component 2 deficiency ⚠
- p.Asn327Ser Single submitter age related macular degeneration 14 ⚠
- p.Asn471= Single submitter complement component 2 deficiency
- p.Asp514Asn Single submitter ⚠
- p.Ile484Val Single submitter age related macular degeneration 14 ⚠
- p.Lys526Arg Single submitter age related macular degeneration 14 ⚠
- p.Met735Val Single submitter ⚠
- p.Phe115= Single submitter
- p.Pro25Ser Single submitter complement component 2 deficiency ⚠
- p.Pro724Leu Single submitter age related macular degeneration 14 ⚠
- p.Pro73Leu Single submitter complement component 2 deficiency ⚠
- p.Pro751= Single submitter complement component 2 deficiency
- p.Ser637Arg Single submitter ⚠
- p.Thr222Ala Single submitter ⚠
- p.Thr442Ala Single submitter ⚠
Benign 7
- p.Ala341= Multiple submitters complement component 2 deficiency
- c.1455+17del Single submitter
- c.1811-16del Single submitter
- c.443-16C>T Single submitter
- c.46+16G>A Single submitter
- c.716-17del Single submitter
- p.Arg103= Single submitter
Benign/Likely benign 5
- c.1567+22_1567+43del Multiple submitters complement component 2 deficiency
- c.1902+6G>C Multiple submitters age related macular degeneration 14
- p.Ala682= Multiple submitters age related macular degeneration 14
- p.Glu318Asp Multiple submitters age related macular degeneration 14 ⚠
- p.Val641Ala Multiple submitters age related macular degeneration 14
Likely benign 176
- c.850-7C>T Multiple submitters
- p.Ala472Thr Multiple submitters age related macular degeneration 14 ⚠
- p.Arg510His Multiple submitters age related macular degeneration 14
- p.Gly530Ser Multiple submitters
- p.Pro385= Multiple submitters
- p.Ser612Asn Multiple submitters age related macular degeneration 14
- c.1129+11T>C Single submitter
- c.1129+13G>T Single submitter
- c.1130-17T>C Single submitter
- c.1130-7G>C Single submitter
- c.1130-9_1130-8del Single submitter
- c.1219+22_1219+24del Single submitter
- c.1220-5A>G Single submitter
- c.1361-4A>G Single submitter
- c.1361-7C>T Single submitter
- c.1455+15G>A Single submitter
- c.1455+19A>G Single submitter
- c.1455+7G>C Single submitter
- c.1456-10T>G Single submitter
- c.1733+11T>A Single submitter
- c.1733+16G>C Single submitter
- c.1733+19_1733+21del Single submitter
- c.1734-12T>C Single submitter
- c.1734-13C>T Single submitter
- c.1734-14G>A Single submitter
- c.1734-16T>C Single submitter
- c.1734-4C>T Single submitter
- c.1810+18T>C Single submitter
- c.1811-18C>T Single submitter
- c.1811-19C>T Single submitter
- c.1811-5TA[3] Single submitter
- c.1902+10T>C Single submitter
- c.1903-12C>T Single submitter
- c.1903-14C>T Single submitter
- c.2029+12A>C Single submitter
- c.2029+13C>T Single submitter
- c.2030-13C>T Single submitter
- c.2030-16C>T Single submitter
- c.2079+17T>C Single submitter
- c.2080-11C>G Single submitter
- c.256+11C>T Single submitter
- c.256+8T>G Single submitter
- c.257-10C>T Single submitter
- c.257-12CT[3] Single submitter
- c.257-15T>G Single submitter
- c.257-16C>T Single submitter
- c.442+14C>T Single submitter
- c.442+18T>C Single submitter
- c.443-21_443-20delinsTA Single submitter
- c.443-5C>T Single submitter
- c.46+12G>T Single submitter
- c.46+15A>G Single submitter
- c.46+17G>A Single submitter
- c.47-12C>T Single submitter
- c.47-14T>A Single submitter
- c.47-17T>G Single submitter
- c.616+18C>A Single submitter
- c.616+19C>T Single submitter
- c.715+20T>C Single submitter
- c.716-14C>T Single submitter
- c.716-19C>G Single submitter
- c.849+13G>A Single submitter
- c.849+16T>C Single submitter
- c.849+24C>A Single submitter
- c.849+66T>A Single submitter
- c.849+75C>T Single submitter
- c.850-11G>A Single submitter
- c.850-20C>T Single submitter
- c.850-6G>A Single submitter
- c.850-8C>T Single submitter
- c.988+13T>A Single submitter
- c.988+16C>T Single submitter
- c.988+17G>A Single submitter
- c.989-10C>T Single submitter
- c.989-7A>G Single submitter
- c.989-9A>G Single submitter
- c.-145A>C Single submitter age related macular degeneration 14
- c.*304A>G Single submitter age related macular degeneration 14
- p.Ala160Thr Single submitter ⚠
- p.Ala436= Single submitter
- p.Ala444= Single submitter
- p.Ala548= Single submitter
- p.Ala639= Single submitter
- p.Ala709= Single submitter
- p.Ala717= Single submitter
- p.Ala82= Single submitter
- p.Arg124= Single submitter
- p.Arg132= Single submitter
- p.Arg189= Single submitter
- p.Arg510= Single submitter
- p.Arg656Lys Single submitter
- p.Arg77= Single submitter
- p.Asn134= Single submitter
- p.Asn153= Single submitter
- p.Asn194= Single submitter
- p.Asn27= Single submitter
- p.Asn290= Single submitter
- p.Asn310= Single submitter
- p.Asn513= Single submitter
- p.Asn703= Single submitter
- p.Asp407= Single submitter
- p.Cys24= Single submitter
- p.Cys463= Single submitter
- p.Cys581= Single submitter
- p.Cys638= Single submitter
- p.Gln130= Single submitter
- p.Gln248= Single submitter
- p.Gln263= Single submitter
- p.Gln500= Single submitter
- p.Gln53Leu Single submitter
- p.Gln611= Single submitter
- p.Gln69= Single submitter
- p.Glu116= Single submitter
- p.Glu318= Single submitter
- p.Glu587= Single submitter
- p.Glu604= Single submitter
- p.Gly159= Single submitter
- p.Gly193= Single submitter
- p.Gly32= Single submitter
- p.Gly336= Single submitter
- p.Gly432= Single submitter
- p.Gly466= Single submitter
- p.Gly494= Single submitter
- p.Gly543= Single submitter
- p.His252= Single submitter
- p.His369= Single submitter
- p.Ile284= Single submitter
- p.Ile295Val Single submitter
- p.Ile30= Single submitter
- p.Ile411= Single submitter
- p.Ile497= Single submitter
- p.Ile580= Single submitter
- p.Leu220= Single submitter
- p.Leu253= Single submitter
- p.Leu309= Single submitter
- p.Leu356= Single submitter
- p.Leu357= Single submitter
- p.Leu374= Single submitter
- p.Leu416= Single submitter
- p.Leu423= Single submitter
- p.Leu445= Single submitter
- p.Leu55= Single submitter
- p.Leu567= Single submitter
- p.Leu63= Single submitter
- p.Leu696Val Single submitter
- p.Leu732= Single submitter
- p.Lys429= Single submitter
- p.Lys572= Single submitter
- p.Met586Val Single submitter
- p.Pro108= Single submitter
- p.Pro127= Single submitter
- p.Pro133= Single submitter
- p.Pro674= Single submitter
- p.Pro704= Single submitter
- p.Pro723= Single submitter
- p.Pro724= Single submitter
- p.Pro725= Single submitter
- p.Ser178= Single submitter
- p.Ser20= Single submitter
- p.Ser266= Single submitter
- p.Ser292= Single submitter
- p.Ser31= Single submitter
- p.Ser498= Single submitter
- p.Ser58= Single submitter
- p.Ser67= Single submitter
- p.Thr200= Single submitter
- p.Thr335= Single submitter
- p.Thr585= Single submitter
- p.Thr76= Single submitter
- p.Tyr107His Single submitter
- p.Val161= Single submitter
- p.Val291= Single submitter
- p.Val413= Single submitter
- p.Val618= Single submitter
- p.Val655= Single submitter
- p.Val93= Single submitter
Uncertain significance 210
- c.1902+5G>A Multiple submitters age related macular degeneration 14
- p.Ala682Glu Multiple submitters ⚠
- p.Arg124Gln Multiple submitters ⚠
- p.Arg129His Multiple submitters complement component 2 deficiency ⚠
- p.Arg174Cys Multiple submitters ⚠
- p.Arg176Cys Multiple submitters ⚠
- p.Arg205His Multiple submitters ⚠
- p.Arg243His Multiple submitters ⚠
- p.Arg593Trp Multiple submitters ⚠
- p.Arg714Cys Multiple submitters ⚠
- p.Arg714His Multiple submitters ⚠
- p.Arg734Leu Multiple submitters complement component 2 deficiency ⚠
- p.Arg88His Multiple submitters ⚠
- p.Asn310Ser Multiple submitters complement component 2 deficiency ⚠
- p.Asp390Ala Multiple submitters complement component 2 deficiency ⚠
- p.Asp499Asn Multiple submitters ⚠
- p.Asp661Asn Multiple submitters complement component 2 deficiency ⚠
- p.Cys638Tyr Multiple submitters ⚠
- p.Gly105Val Multiple submitters ⚠
- p.Gly149Ala Multiple submitters ⚠
- p.Ile320Met Multiple submitters ⚠
- p.Lys415Thr Multiple submitters ⚠
- p.Lys572Asn Multiple submitters complement component 2 deficiency ⚠
- p.Phe273= Multiple submitters complement component 2 deficiency
- p.Phe95Val Multiple submitters complement component 2 deficiency ⚠
- p.Pro583Arg Multiple submitters ⚠
- p.Ser20Leu Multiple submitters ⚠
- p.Ser250Cys Multiple submitters complement component 2 deficiency ⚠
- p.Ser31Leu Multiple submitters ⚠
- p.Thr184Ala Multiple submitters ⚠
- p.Thr478Lys Multiple submitters ⚠
- p.Trp699Cys Multiple submitters ⚠
- p.Val109Met Multiple submitters ⚠
- c.1360+3G>A Single submitter
- c.1567+4A>G Single submitter
- c.1811-3T>C Single submitter
- c.1902+3G>A Single submitter
- c.2029+5G>A Single submitter
- c.47-9C>G Single submitter
- c.617-14G>A Single submitter
- c.849+59G>A Single submitter complement component 2 deficiency
- c.988+4C>T Single submitter
- c.988+5G>A Single submitter complement component 2 deficiency
- c.-21G>A Single submitter complement component 2 deficiency
- c.-36G>A Single submitter complement component 2 deficiency
- c.-37C>A Single submitter age related macular degeneration 14
- c.*120T>C Single submitter complement component 2 deficiency
- c.*141C>T Single submitter complement component 2 deficiency
- c.*183C>T Single submitter age related macular degeneration 14
- c.*286T>C Single submitter complement component 2 deficiency
- c.*82C>T Single submitter age related macular degeneration 14
- p.Ala148Thr Single submitter ⚠
- p.Ala219Asp Single submitter ⚠
- p.Ala277Thr Single submitter ⚠
- p.Ala341Glu Single submitter ⚠
- p.Ala363Thr Single submitter ⚠
- p.Ala495Val Single submitter ⚠
- p.Ala682Gly Single submitter ⚠
- p.Ala75Thr Single submitter ⚠
- p.Ala91Thr Single submitter ⚠
- p.Arg124Trp Single submitter ⚠
- p.Arg129Cys Single submitter ⚠
- p.Arg162Gln Single submitter ⚠
- p.Arg205Cys Single submitter ⚠
- p.Arg205Pro Single submitter ⚠
- p.Arg243Cys Single submitter ⚠
- p.Arg249Cys Single submitter ⚠
- p.Arg249His Single submitter ⚠
- p.Arg249Ser Single submitter ⚠
- p.Arg314Gln Single submitter ⚠
- p.Arg314Gly Single submitter ⚠
- p.Arg314Trp Single submitter ⚠
- p.Arg355Ter Single submitter complement component 2 deficiency
- p.Arg368Gln Single submitter ⚠
- p.Arg368Pro Single submitter ⚠
- p.Arg493Gln Single submitter ⚠
- p.Arg510Cys Single submitter ⚠
- p.Arg601Gly Single submitter ⚠
- p.Arg62Gln Single submitter ⚠
- p.Arg62Trp Single submitter ⚠
- p.Arg687Gln Single submitter ⚠
- p.Arg719Cys Single submitter ⚠
- p.Arg734His Single submitter ⚠
- p.Arg734Ser Single submitter ⚠
- p.Arg77Trp Single submitter ⚠
- p.Arg88Cys Single submitter ⚠
- p.Asn134Lys Single submitter ⚠
- p.Asn146Ser Single submitter ⚠
- p.Asn194Asp Single submitter ⚠
- p.Asn194Lys Single submitter ⚠
- p.Asn27Lys Single submitter ⚠
- p.Asn312Ser Single submitter ⚠
- p.Asn380Ser Single submitter ⚠
- p.Asn712His Single submitter ⚠
- p.Asp260Asn Single submitter ⚠
- p.Asp282His Single submitter ⚠
- p.Asp311Asn Single submitter ⚠
- p.Asp315Asn Single submitter ⚠
- p.Asp315Tyr Single submitter ⚠
- p.Asp376Gly Single submitter ⚠
- p.Asp511Asn Single submitter ⚠
- p.Asp514Tyr Single submitter ⚠
- p.Asp654His Single submitter ⚠
- p.Asp745Asn Single submitter ⚠
- p.Cys117Arg Single submitter ⚠
- p.Cys675Gly Single submitter ⚠
- p.Cys9Arg Single submitter ⚠
- p.Gln206Glu Single submitter ⚠
- p.Gln53Arg Single submitter ⚠
- p.Gln736His Single submitter ⚠
- p.Glu116Lys Single submitter ⚠
- p.Glu275Asp Single submitter ⚠
- p.Glu433Gly Single submitter complement component 2 deficiency ⚠
- p.Glu556Ala Single submitter ⚠
- p.Glu556Lys Single submitter ⚠
- p.Gly105Arg Single submitter complement component 2 deficiency ⚠
- p.Gly16Arg Single submitter complement component 2 deficiency ⚠
- p.Gly195Arg Single submitter ⚠
- p.Gly195Glu Single submitter ⚠
- p.Gly229Arg Single submitter ⚠
- p.Gly412Arg Single submitter ⚠
- p.Gly464Arg Single submitter ⚠
- p.Gly543Glu Single submitter ⚠
- p.Gly54Ser Single submitter ⚠
- p.Gly68Arg Single submitter ⚠
- p.His369Asn Single submitter ⚠
- p.His391Tyr Single submitter ⚠
- p.His481Leu Single submitter ⚠
- p.His515Pro Single submitter ⚠
- p.His616Tyr Single submitter ⚠
- p.Ile289Val Single submitter ⚠
- p.Ile295Leu Single submitter ⚠
- p.Ile30Met Single submitter ⚠
- p.Leu13Pro Single submitter ⚠
- p.Leu356Phe Single submitter complement component 2 deficiency ⚠
- p.Leu37Ile Single submitter ⚠
- p.Leu37Phe Single submitter age related macular degeneration 14 ⚠
- p.Leu396Pro Single submitter ⚠
- p.Leu458His Single submitter ⚠
- p.Leu46Phe Single submitter ⚠
- p.Leu534= Single submitter complement component 2 deficiency
- p.Leu607Val Single submitter ⚠
- p.Lys401Gln Single submitter ⚠
- p.Lys531Glu Single submitter ⚠
- p.Lys676Asn Single submitter ⚠
- p.Lys721Glu Single submitter ⚠
- p.Met136Arg Single submitter ⚠
- p.Met280Ile Single submitter ⚠
- p.Met280Val Single submitter ⚠
- p.Met586Ile Single submitter ⚠
- p.Met586Thr Single submitter ⚠
- p.Met648Thr Single submitter ⚠
- p.Phe121Leu Single submitter ⚠
- p.Phe270_Leu271delinsLeuIle Single submitter
- p.Phe35Ser Single submitter ⚠
- p.Phe684Leu Single submitter ⚠
- p.Phe692Ser Single submitter ⚠
- p.Phe733Leu Single submitter ⚠
- p.Pro133Thr Single submitter ⚠
- p.Pro152Ser Single submitter ⚠
- p.Pro213Thr Single submitter ⚠
- p.Pro385Leu Single submitter ⚠
- p.Pro59Gln Single submitter ⚠
- p.Pro723Leu Single submitter ⚠
- p.Pro723Ser Single submitter ⚠
- p.Pro725Leu Single submitter ⚠
- p.Pro73Ser Single submitter ⚠
- p.Pro751Ser Single submitter ⚠
- p.Pro751Thr Single submitter ⚠
- p.Pro86Ser Single submitter ⚠
- p.Ser126Leu Single submitter ⚠
- p.Ser186Cys Single submitter C2-related disorder ⚠
- p.Ser240Asn Single submitter ⚠
- p.Ser250Phe Single submitter ⚠
- p.Ser262Leu Single submitter ⚠
- p.Ser266Leu Single submitter ⚠
- p.Ser266Trp Single submitter complement component 2 deficiency ⚠
- p.Ser322Arg Single submitter ⚠
- p.Ser456Ala Single submitter ⚠
- p.Ser473Ala Single submitter ⚠
- p.Ser498Ala Single submitter ⚠
- p.Ser50Phe Single submitter age related macular degeneration 14 ⚠
- p.Ser527Tyr Single submitter ⚠
- p.Ser58Phe Single submitter ⚠
- p.Ser612Arg Single submitter ⚠
- p.Ser623Arg Single submitter ⚠
- p.Ser713Phe Single submitter ⚠
- p.Thr141Ala Single submitter ⚠
- p.Thr184Met Single submitter ⚠
- p.Thr200Met Single submitter ⚠
- p.Thr297Ser Single submitter ⚠
- p.Thr337Ser Single submitter ⚠
- p.Thr339Asn Single submitter ⚠
- p.Thr361Met Single submitter complement component 2 deficiency ⚠
- p.Thr636Ile Single submitter ⚠
- p.Thr647Asn Single submitter ⚠
- p.Trp480Arg Single submitter ⚠
- p.Trp518Gly Single submitter ⚠
- p.Tyr100His Single submitter ⚠
- p.Tyr175Cys Single submitter ⚠
- p.Tyr702His Single submitter ⚠
- p.Val113Met Single submitter complement component 2 deficiency ⚠
- p.Val173Ile Single submitter ⚠
- p.Val448Leu Single submitter ⚠
- p.Val455Ala Single submitter ⚠
- p.Val465Leu Single submitter ⚠
- p.Val683Ala Single submitter ⚠
- p.Val87Leu Single submitter ⚠
- p.Asn467His No assertion criteria complement component 2 deficiency ⚠
- p.Trp420Ter No assertion criteria