ClinVar for MedGen (Select 461625) - ClinVar

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Items: 79

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 11658611.	NM_000063.6(C2):c.1567+22_1567+43del GRCh37: Chr6:31911323-31911344 GRCh38: Chr6:31943546-31943567	C2		Complement component 2 deficiency, Age related macular degeneration 14, not provided	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10321612.	NM_000063.6(C2):c.2171C>T (p.Pro724Leu) GRCh37: Chr6:31913046 GRCh38: Chr6:31945269	C2	P695L, P478L, P510L, P592L, P724L	Complement component 2 deficiency, Age related macular degeneration 14, not provided, Complement component 2 deficiency	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 9925483.	NM_000063.6(C2):c.849+59G>A GRCh37: Chr6:31902135 GRCh38: Chr6:31934358	C2	C303Y	Complement component 2 deficiency, Age related macular degeneration 14	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 9736214.	NM_000063.6(C2):c.1399A>C (p.Asn467His) GRCh37: Chr6:31911040 GRCh38: Chr6:31943263	C2	N335H, N438H, N221H, N253H, N467H	Complement component 2 deficiency	Uncertain significance (May 21, 2020)	no assertion criteria provided
Select item 9153865.	NM_000063.6(C2):c.839_849del (p.Met280fs) GRCh37: Chr6:31902066-31902076 GRCh38: Chr6:31934289-31934299	C2	M251fs, M280fs, M148fs	Complement component 2 deficiency	Likely pathogenic (May 3, 2020)	criteria provided, single submitter
Select item 9080376.	NM_000063.6(C2):c.1577A>G (p.Lys526Arg) GRCh37: Chr6:31911430 GRCh38: Chr6:31943653	C2, CFB	K312R, K526R, K394R, K280R, K497R	Age related macular degeneration 14, not provided, Complement component 2 deficiency, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 9079597.	NM_000063.6(C2):c.936C>G (p.Asn312Lys) GRCh37: Chr6:31903786 GRCh38: Chr6:31936009	C2, C2-AS1	N66K, N180K, N283K, N312K	Age related macular degeneration 14, Complement component 2 deficiency, not provided	Conflicting interpretations of pathogenicity (Aug 20, 2022)	criteria provided, conflicting interpretations
Select item 9079588.	NM_000063.6(C2):c.929A>G (p.Asn310Ser) GRCh37: Chr6:31903779 GRCh38: Chr6:31936002	C2, C2-AS1	N178S, N64S, N281S, N310S	Age related macular degeneration 14, Complement component 2 deficiency, not provided	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9079579.	NM_000063.6(C2):c.913C>T (p.Leu305Phe) GRCh37: Chr6:31903763 GRCh38: Chr6:31935986	C2, C2-AS1	L276F, L59F, L173F, L305F	Age related macular degeneration 14, Complement component 2 deficiency	Uncertain significance (Feb 9, 2018)	criteria provided, single submitter
Select item 90795610.	NM_000063.6(C2):c.819C>T (p.Phe273=) GRCh37: Chr6:31902046 GRCh38: Chr6:31934269	C2		Age related macular degeneration 14, Complement component 2 deficiency, not provided	Uncertain significance (May 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90789211.	NM_000063.6(C2):c.-21G>A GRCh37: Chr6:31895509 GRCh38: Chr6:31927732	C2		Age related macular degeneration 14, Complement component 2 deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90789112.	NM_000063.6(C2):c.-36G>A GRCh37: Chr6:31895494 GRCh38: Chr6:31927717	C2		Age related macular degeneration 14, Complement component 2 deficiency	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90704713.	NM_000063.6(C2):c.*141C>T GRCh37: Chr6:31913275 GRCh38: Chr6:31945498	C2		Complement component 2 deficiency, Age related macular degeneration 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90698214.	NM_000063.6(C2):c.749C>G (p.Ser250Cys) GRCh37: Chr6:31901976 GRCh38: Chr6:31934199	C2	S221C, S118C, S250C	Complement component 2 deficiency, Age related macular degeneration 14, Complement component 2 deficiency, Age related macular degeneration 14, not provided	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90698115.	NM_000063.6(C2):c.443-4G>A GRCh37: Chr6:31901383 GRCh38: Chr6:31933606	C2	R22H	Age related macular degeneration 14, not provided, Complement component 2 deficiency	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 90698016.	NM_000063.6(C2):c.442+15T>G GRCh37: Chr6:31896709 GRCh38: Chr6:31928932	C2		Complement component 2 deficiency, Age related macular degeneration 14, not provided	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 90697917.	NM_000063.6(C2):c.386G>A (p.Arg129His) GRCh37: Chr6:31896638 GRCh38: Chr6:31928861	C2	R100H, R129H	Complement component 2 deficiency, Age related macular degeneration 14, not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90602718.	NM_000063.6(C2):c.2200C>T (p.Arg734Cys) GRCh37: Chr6:31913075 GRCh38: Chr6:31945298	C2	R488C, R520C, R734C, R602C, R705C	Complement component 2 deficiency, Age related macular degeneration 14, not provided	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 90595819.	NM_000063.6(C2):c.1413C>T (p.Asn471=) GRCh37: Chr6:31911054 GRCh38: Chr6:31943277	C2		Complement component 2 deficiency, Age related macular degeneration 14, not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 90551720.	NM_000063.6(C2):c.1981G>A (p.Asp661Asn) GRCh37: Chr6:31912582 GRCh38: Chr6:31944805	C2	D415N, D447N, D529N, D632N, D661N	not provided, Complement component 2 deficiency, Age related macular degeneration 14	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90544321.	NM_000063.6(C2):c.1169A>C (p.Asp390Ala) GRCh37: Chr6:31907047 GRCh38: Chr6:31939270	C2, C2-AS1	D144A, D176A, D390A, D361A, D258A	Complement component 2 deficiency, Age related macular degeneration 14, not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90544222.	NM_000063.6(C2):c.1109C>T (p.Ala370Val) GRCh37: Chr6:31905216 GRCh38: Chr6:31937439	C2, C2-AS1	A370V, A124V, A156V, A341V, A238V	Complement component 2 deficiency, Age related macular degeneration 14, not provided	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90544123.	NM_000063.6(C2):c.1082C>T (p.Thr361Met) GRCh37: Chr6:31905189 GRCh38: Chr6:31937412	C2, C2-AS1	T229M, T147M, T361M, T115M, T332M	Complement component 2 deficiency, Age related macular degeneration 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90537424.	NM_000063.6(C2):c.337G>A (p.Val113Met) GRCh37: Chr6:31896589 GRCh38: Chr6:31928812	C2	V84M, V113M	Age related macular degeneration 14, Complement component 2 deficiency	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 90537325.	NM_000063.6(C2):c.283T>G (p.Phe95Val) GRCh37: Chr6:31896535 GRCh38: Chr6:31928758	C2	F66V, F95V	Complement component 2 deficiency, Age related macular degeneration 14, not provided	Uncertain significance (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90537226.	NM_000063.6(C2):c.245C>T (p.Ala82Val) GRCh37: Chr6:31895930 GRCh38: Chr6:31928153	C2	A82V, R44W	Complement component 2 deficiency, Age related macular degeneration 14, not provided	Uncertain significance (Jan 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90479727.	NM_000063.6(C2):c.*286T>C GRCh37: Chr6:31913420 GRCh38: Chr6:31945643	C2		Age related macular degeneration 14, Complement component 2 deficiency	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90472728.	NM_000063.6(C2):c.1613C>T (p.Ala538Val) GRCh37: Chr6:31911466 GRCh38: Chr6:31943689	C2	A406V, A292V, A324V, A509V, A538V	not provided, Age related macular degeneration 14, Complement component 2 deficiency	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 90465229.	NM_000063.6(C2):c.980A>G (p.Asn327Ser) GRCh37: Chr6:31903830 GRCh38: Chr6:31936053	C2, C2-AS1	N298S, N327S, N195S, N81S	not provided, Age related macular degeneration 14, Complement component 2 deficiency	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90458630.	NM_000063.6(C2):c.149C>T (p.Ser50Phe) GRCh37: Chr6:31895834 GRCh38: Chr6:31928057	C2	S50F, P12S	Age related macular degeneration 14, Complement component 2 deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90458531.	NM_000063.6(C2):c.109C>T (p.Leu37Phe) GRCh37: Chr6:31895794 GRCh38: Chr6:31928017	C2	L37F	Age related macular degeneration 14, Complement component 2 deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90458432.	NM_000063.6(C2):c.73C>T (p.Pro25Ser) GRCh37: Chr6:31895758 GRCh38: Chr6:31927981	C2	P25S	Age related macular degeneration 14, not provided, Complement component 2 deficiency	Conflicting interpretations of pathogenicity (Jun 13, 2022)	criteria provided, conflicting interpretations
Select item 62590033.	NM_000063.6(C2):c.988+5G>A GRCh37: Chr6:31903843 GRCh38: Chr6:31936066	C2, C2-AS1		Age related macular degeneration 14, Complement component 2 deficiency	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 36952034.	NM_000063.6(C2):c.1778G>A (p.Arg593Gln) GRCh37: Chr6:31911738 GRCh38: Chr6:31943961	C2, CFB	R379Q, R461Q, R347Q, R564Q, R593Q	Complement component 2 deficiency, Age related macular degeneration 14, not provided, Atypical hemolytic-uremic syndrome	Likely benign (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35629035.	NM_001710.6(CFB):c.1524C>T (p.His508=) GRCh37: Chr6:31918080 GRCh38: Chr6:31950303	C2, CFB		not specified, Complement component 2 deficiency, not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35628736.	NM_001710.6(CFB):c.1365C>T (p.Val455=) GRCh37: Chr6:31917291 GRCh38: Chr6:31949514	C2, CFB		Atypical hemolytic-uremic syndrome with B factor anomaly, Complement component 2 deficiency, Focal segmental glomerulosclerosis, Macular degeneration, not provided	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35628537.	NM_001710.6(CFB):c.1143C>T (p.Arg381=) GRCh37: Chr6:31916713 GRCh38: Chr6:31948936	C2, CFB		not provided, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration, Complement component 2 deficiency	Benign/Likely benign (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35628438.	NM_001710.6(CFB):c.1137C>T (p.Arg379=) GRCh37: Chr6:31916707 GRCh38: Chr6:31948930	C2, CFB		not specified, Complement component 2 deficiency, Atypical hemolytic-uremic syndrome with B factor anomaly, Complement factor b deficiency, Age related macular degeneration 14, not provided, Atypical hemolytic-uremic syndrome, Kidney disorder, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35628139.	NM_001710.6(CFB):c.858C>T (p.Phe286=) GRCh37: Chr6:31915819 GRCh38: Chr6:31948042	C2, CFB		not specified, Complement component 2 deficiency, not provided, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35628040.	NM_001710.6(CFB):c.754G>A (p.Gly252Ser) GRCh37: Chr6:31915614 GRCh38: Chr6:31947837	C2, CFB	G252S	Complement component 2 deficiency, not provided, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35627741.	NM_001710.6(CFB):c.672C>T (p.Tyr224=) GRCh37: Chr6:31915532 GRCh38: Chr6:31947755	C2, CFB		Complement component 2 deficiency, not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Kidney disorder, Macular degeneration	Benign/Likely benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35627442.	NM_001710.6(CFB):c.600C>T (p.Ser200=) GRCh37: Chr6:31915240 GRCh38: Chr6:31947463	C2, CFB		Complement component 2 deficiency, not provided, Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35627343.	NM_001710.6(CFB):c.504G>A (p.Pro168=) GRCh37: Chr6:31915144 GRCh38: Chr6:31947367	C2, CFB		Atypical hemolytic-uremic syndrome, Complement component 2 deficiency, not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35627244.	NM_001710.6(CFB):c.450A>G (p.Arg150=) GRCh37: Chr6:31914935 GRCh38: Chr6:31947158	C2, CFB		Complement component 2 deficiency, not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Complement factor b deficiency, Macular degeneration	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35627145.	NM_001710.6(CFB):c.405C>T (p.Tyr135=) GRCh37: Chr6:31914890 GRCh38: Chr6:31947113	C2, CFB		Atypical hemolytic-uremic syndrome, Complement component 2 deficiency, not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35626846.	NM_001710.6(CFB):c.221G>A (p.Arg74His) GRCh37: Chr6:31914306 GRCh38: Chr6:31946529	C2, CFB	R74H	Atypical hemolytic-uremic syndrome, Complement component 2 deficiency, not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration	Conflicting interpretations of pathogenicity (Sep 21, 2022)	criteria provided, conflicting interpretations
Select item 35626547.	NM_000063.6(C2):c.*304A>G GRCh37: Chr6:31913438 GRCh38: Chr6:31945661	C2, CFB		Atypical hemolytic-uremic syndrome, Complement component 2 deficiency, Age related macular degeneration 14, Macular degeneration	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 35626448.	NM_000063.6(C2):c.*183C>T GRCh37: Chr6:31913317 GRCh38: Chr6:31945540	C2		Complement component 2 deficiency, Age related macular degeneration 14, Macular degeneration	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35626349.	NM_000063.6(C2):c.*120T>C GRCh37: Chr6:31913254 GRCh38: Chr6:31945477	C2		Complement component 2 deficiency, Age related macular degeneration 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35626250.	NM_000063.6(C2):c.*82C>T GRCh37: Chr6:31913216 GRCh38: Chr6:31945439	C2		Complement component 2 deficiency, Age related macular degeneration 14, Macular degeneration	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35626151.	NM_000063.6(C2):c.2253C>T (p.Pro751=) GRCh37: Chr6:31913128 GRCh38: Chr6:31945351	C2		Complement component 2 deficiency, not provided, Age related macular degeneration 14	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 35626052.	NM_000063.6(C2):c.2201G>T (p.Arg734Leu) GRCh37: Chr6:31913076 GRCh38: Chr6:31945299	C2	R734L, R602L, R520L, R488L, R705L	Complement component 2 deficiency, not provided, Inborn genetic diseases, Age related macular degeneration 14	Uncertain significance (Jun 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35625953.	NM_000063.6(C2):c.2080-8T>C GRCh37: Chr6:31912947 GRCh38: Chr6:31945170	C2, CFB		Atypical hemolytic-uremic syndrome, Complement component 2 deficiency, not provided, Age related macular degeneration 14, Macular degeneration	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 35625854.	NM_000063.6(C2):c.2046A>G (p.Ala682=) GRCh37: Chr6:31912773 GRCh38: Chr6:31944996	C2, CFB		Atypical hemolytic-uremic syndrome, Complement component 2 deficiency, Complement component 2 deficiency, Age related macular degeneration 14, not provided, Age related macular degeneration 14, Macular degeneration	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35625755.	NM_000063.6(C2):c.1922T>C (p.Val641Ala) GRCh37: Chr6:31912523 GRCh38: Chr6:31944746	C2, CFB	V641A, V509A, V395A, V612A, V427A	Atypical hemolytic-uremic syndrome, Complement component 2 deficiency, not provided, Age related macular degeneration 14, Macular degeneration	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35625656.	NM_000063.6(C2):c.1902+6G>C GRCh37: Chr6:31912009 GRCh38: Chr6:31944232	C2, CFB		Atypical hemolytic-uremic syndrome, Complement component 2 deficiency, not provided, Age related macular degeneration 14, Macular degeneration	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35625557.	NM_000063.6(C2):c.1902+5G>A GRCh37: Chr6:31912008 GRCh38: Chr6:31944231	C2		Complement component 2 deficiency, not provided, Age related macular degeneration 14, Macular degeneration	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35625458.	NM_000063.6(C2):c.1835G>A (p.Ser612Asn) GRCh37: Chr6:31911936 GRCh38: Chr6:31944159	C2, CFB	S612N, S583N, S398N, S366N, S480N	Complement component 2 deficiency, not provided, Atypical hemolytic-uremic syndrome, Age related macular degeneration 14, Macular degeneration	Likely benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35625359.	NM_000063.6(C2):c.1716G>C (p.Lys572Asn) GRCh37: Chr6:31911569 GRCh38: Chr6:31943792	C2	K572N, K543N, K326N, K358N, K440N	Complement component 2 deficiency, not provided, Age related macular degeneration 14	Uncertain significance (Aug 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35625260.	NM_000063.6(C2):c.1602T>C (p.Leu534=) GRCh37: Chr6:31911455 GRCh38: Chr6:31943678	C2		Complement component 2 deficiency, Age related macular degeneration 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35625161.	NM_000063.6(C2):c.1529G>A (p.Arg510His) GRCh37: Chr6:31911266 GRCh38: Chr6:31943489	C2, CFB	R510H, R296H, R264H, R378H, R481H	Complement component 2 deficiency, not provided, Atypical hemolytic-uremic syndrome, Age related macular degeneration 14, Macular degeneration	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 35625062.	NM_000063.6(C2):c.1450A>G (p.Ile484Val) GRCh37: Chr6:31911091 GRCh38: Chr6:31943314	C2, CFB	I484V, I455V, I352V, I238V, I270V	not provided, Atypical hemolytic-uremic syndrome, Complement component 2 deficiency, Macular degeneration, Complement component 2 deficiency, Age related macular degeneration 14, Age related macular degeneration 14	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 35624963.	NM_000063.6(C2):c.1414G>A (p.Ala472Thr) GRCh37: Chr6:31911055 GRCh38: Chr6:31943278	C2, CFB	A472T, A226T, A340T, A443T, A258T	Complement component 2 deficiency, not provided, Atypical hemolytic-uremic syndrome, Age related macular degeneration 14, Macular degeneration	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 35624864.	NM_000063.6(C2):c.1239G>C (p.Val413=) GRCh37: Chr6:31910755 GRCh38: Chr6:31942978	C2		Complement component 2 deficiency, Age related macular degeneration 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35624765.	NM_000063.6(C2):c.1130-11C>T GRCh37: Chr6:31906997 GRCh38: Chr6:31939220	C2, C2-AS1		Complement component 2 deficiency, not provided, Age related macular degeneration 14	Conflicting interpretations of pathogenicity (Jul 23, 2022)	criteria provided, conflicting interpretations
Select item 35624666.	NM_000063.6(C2):c.1066C>T (p.Leu356Phe) GRCh37: Chr6:31905173 GRCh38: Chr6:31937396	C2, C2-AS1	L356F, L142F, L224F, L110F, L327F	Complement component 2 deficiency, Age related macular degeneration 14	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35624567.	NM_000063.6(C2):c.1023G>A (p.Ala341=) GRCh37: Chr6:31905130 GRCh38: Chr6:31937353	C2, C2-AS1		Complement component 2 deficiency, not provided, not specified, Age related macular degeneration 14	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35624468.	NM_000063.6(C2):c.313G>A (p.Gly105Arg) GRCh37: Chr6:31896565 GRCh38: Chr6:31928788	C2	G105R, G76R	Complement component 2 deficiency, Age related macular degeneration 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35624369.	NM_000063.6(C2):c.218C>T (p.Pro73Leu) GRCh37: Chr6:31895903 GRCh38: Chr6:31928126	C2	P73L, Q35*	Complement component 2 deficiency, Age related macular degeneration 14, not provided	Conflicting interpretations of pathogenicity (Sep 21, 2022)	criteria provided, conflicting interpretations
Select item 35624270.	NM_000063.6(C2):c.81C>T (p.Asn27=) GRCh37: Chr6:31895766 GRCh38: Chr6:31927989	C2		Complement component 2 deficiency, Macular degeneration	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35624171.	NM_000063.5(C2):c.-37C>A GRCh37: Chr6:31895493 GRCh38: Chr6:31927716	C2		Complement component 2 deficiency, Age related macular degeneration 14	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35624072.	NM_000063.5(C2):c.-145A>C GRCh37: Chr6:31895385 GRCh38: Chr6:31927608	C2		Complement component 2 deficiency, Age related macular degeneration 14	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 22531473.	NM_001710.6(CFB):c.1697A>C (p.Glu566Ala) GRCh37: Chr6:31918468 GRCh38: Chr6:31950691	CFB	E566A	Kidney disorder, not provided, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration, Complement component 2 deficiency, Complement factor b deficiency	Benign/Likely benign (Apr 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 22531374.	NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) GRCh37: Chr6:31918154 GRCh38: Chr6:31950377	C2, CFB	K533R	Complement factor b deficiency, Complement factor b deficiency, Atypical hemolytic-uremic syndrome with B factor anomaly, Age related macular degeneration 14, not provided, Atypical hemolytic-uremic syndrome, not specified, Complement component 2 deficiency, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5063475.	NM_000063.6(C2):c.841_849+19del GRCh37: Chr6:31902068-31902095 GRCh38: Chr6:31934289-31934316	C2	V281fs	C2-related disorders, Complement component 2 deficiency, Age related macular degeneration 14, not provided, Complement component 2 deficiency	Pathogenic/Likely pathogenic (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1607776.	NM_001710.6(CFB):c.26T>A (p.Leu9His) GRCh37: Chr6:31914024 GRCh38: Chr6:31946247	C2, CFB	L9H	Complement factor b deficiency, Age related macular degeneration 14, Atypical hemolytic-uremic syndrome with B factor anomaly, not specified, not provided, Atypical hemolytic-uremic syndrome, Complement component 2 deficiency, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1607677.	NM_001710.5(CFB):c.94C>T (p.Arg32Trp) GRCh37: Chr6:31914179 GRCh38: Chr6:31946402	C2, CFB	R32W	Focal segmental glomerulosclerosis, Macular degeneration, Complement component 2 deficiency, Complement factor b deficiency, Age related macular degeneration 14, Atypical hemolytic-uremic syndrome with B factor anomaly, Atypical hemolytic-uremic syndrome with B factor anomaly, not provided, Atypical hemolytic-uremic syndrome	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1607578.	NM_001710.5(CFB):c.95G>A (p.Arg32Gln) GRCh37: Chr6:31914180 GRCh38: Chr6:31946403	C2, CFB	R32Q	Age related macular degeneration 14, Complement component 2 deficiency, not specified, not provided, Atypical hemolytic-uremic syndrome, Complement component 2 deficiency, Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration, Focal segmental glomerulosclerosis	Benign/Likely benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1213079.	NM_000063.6(C2):c.954G>C (p.Glu318Asp) GRCh37: Chr6:31903804 GRCh38: Chr6:31936027	C2, C2-AS1	E318D, E72D, E186D, E289D	Age related macular degeneration 14, Complement component 2 deficiency, Age related macular degeneration 14, not specified, not provided, Complement component 2 deficiency	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 79