C2931788[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 240967	NM_015102.5(NPHP4):c.2219G>A (p.Arg740His)	NPHP4 (R740H +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +5 more	GConflicting classifications of pathogenicity
Select item 1421	NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	MMACHC (R91fs +1 more)	Duplication (frameshift variant)	not specified +6 more	GPathogenic
Select item 294480	NM_000186.4(CFH):c.245-7G>A	CFH	Single nucleotide variant (intron variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +6 more	GBenign/Likely benign
Select item 294485	NM_000186.4(CFH):c.428-3C>T	CFH	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome +3 more	GUncertain significance
Select item 294487	NM_000186.4(CFH):c.770G>A (p.Arg257His)	CFH (R257H)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +5 more	GConflicting classifications of pathogenicity
Select item 294488	NM_000186.4(CFH):c.921A>C (p.Ala307=)	CFH	Single nucleotide variant (synonymous variant)	Age related macular degeneration 4 +6 more	GBenign
Select item 294490	NM_000186.4(CFH):c.1204C>T (p.His402Tyr)	CFH (H402Y)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 294491	NM_000186.4(CFH):c.1419G>A (p.Ala473=)	CFH	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 294494	NM_000186.4(CFH):c.1652T>C (p.Ile551Thr)	CFH (I551T)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +6 more	GBenign
Select item 294497	NM_000186.4(CFH):c.1949G>T (p.Gly650Val)	CFH (G650V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 294501	NM_000186.4(CFH):c.2236+8T>A	CFH	Single nucleotide variant (intron variant)	Age related macular degeneration 4 +6 more	GBenign/Likely benign
Select item 294504	NM_000186.4(CFH):c.2634C>T (p.His878=)	CFH	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 294507	NM_000186.4(CFH):c.2669G>T (p.Ser890Ile)	CFH (S890I)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +6 more	GBenign
Select item 294510	NM_000186.4(CFH):c.2850G>T (p.Gln950His)	CFH (Q950H)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 294511	NM_000186.4(CFH):c.2867C>T (p.Thr956Met)	CFH (T956M)	Single nucleotide variant (missense variant)	CFH-related condition +8 more	GConflicting classifications of pathogenicity
Select item 294513	NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg)	CFH (G1002R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 294514	NM_000186.4(CFH):c.3019G>T (p.Val1007Leu)	CFH (V1007L)	Single nucleotide variant (missense variant)	Age related macular degeneration 4 +6 more	GBenign
Select item 294517	NM_000186.4(CFH):c.3133+8G>T	CFH	Single nucleotide variant (intron variant)	Hemolytic uremic syndrome, atypical, susceptibility to, 1 +7 more	GBenign/Likely benign
Select item 875337	NM_000186.4(CFH):c.3134-5T>C	CFH	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 294520	NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr)	CFH (N1050Y)	Single nucleotide variant (missense variant)	Thrombotic microangiopathy +7 more	GBenign/Likely benign
Select item 289336	NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr)	CFH (I1059T)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign
Select item 16558	NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)	CFH (R1210C)	Single nucleotide variant (missense variant)	Kidney disorder +6 more	GConflicting classifications of pathogenicity
Select item 294531	NM_030787.4(CFHR5):c.-20T>C	CFHR5	Single nucleotide variant (5 prime UTR variant)	CFHR5 deficiency +3 more	GBenign
Select item 775635	NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser)	CFHR5 (P46S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 294536	NM_030787.4(CFHR5):c.329T>C (p.Val110Ala)	CFHR5 (V110A)	Single nucleotide variant (missense variant)	CFHR5 deficiency +3 more	GBenign/Likely benign
Select item 873626	NM_030787.4(CFHR5):c.646A>T (p.Asn216Tyr)	CFHR5 (N216Y)	Single nucleotide variant (missense variant)	CFHR5 deficiency +2 more	GUncertain significance
Select item 294545	NM_030787.4(CFHR5):c.647A>T (p.Asn216Ile)	CFHR5 (N216I)	Single nucleotide variant (missense variant)	CFHR5 deficiency +2 more	GUncertain significance
Select item 713772	NM_030787.4(CFHR5):c.732C>T (p.Asn244=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 377177	NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser)	CFHR5 (G278S)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 402533	NM_030787.4(CFHR5):c.1067G>A (p.Arg356His)	CFHR5 (R356H)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 717499	NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg)	CFHR5 (M514R)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 294966	NM_172351.3(CD46):c.-6C>T	LOC129932405, CD46	Single nucleotide variant (5 prime UTR variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 875708	NM_172351.3(CD46):c.38C>T (p.Ser13Phe)	CD46, LOC129932405 (S13F)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +3 more	GBenign
Select item 875710	NM_172351.3(CD46):c.285T>C (p.Tyr95=)	CD46	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 876703	NM_172351.3(CD46):c.453C>T (p.Ser151=)	CD46	Single nucleotide variant (synonymous variant)	CD46-related condition +3 more	GBenign
Select item 294975	NM_172351.3(CD46):c.1013C>T (p.Ala338Val)	CD46 (A353V +4 more)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +3 more	GBenign/Likely benign
Select item 294976	NM_172351.3(CD46):c.1083-10C>T	CD46	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +2 more	GBenign
Select item 296956	NM_001243133.2(NLRP3):c.*230G>C	NLRP3	Single nucleotide variant (3 prime UTR variant)	Cryopyrin associated periodic syndrome +5 more	GBenign
Select item 255027	NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu)	COL4A4 (G999E)	Single nucleotide variant (missense variant)	COL4A4-related condition +4 more	GConflicting classifications of pathogenicity
Select item 255019	NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu)	COL4A4 (P759L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 255015	NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala)	COL4A4 (G545A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 255003	NM_000091.5(COL4A3):c.547-9A>C	MFF-DT, COL4A3	Single nucleotide variant (intron variant)	Alport syndrome +3 more	GBenign
Select item 254988	NM_000091.5(COL4A3):c.2715C>T (p.Pro905=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 254995	NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu)	MFF-DT, COL4A3 (D1269E)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 334780	NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu)	COL4A3, MFF-DT (D1347E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +5 more	GBenign
Select item 346008	NM_002292.4(LAMB2):c.816T>C (p.Tyr272=)	LAMB2	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 697112	NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser)	NPHP3, NPHP3-ACAD11 (N711S)	Single nucleotide variant (non-coding transcript variant +1 more)	Atypical hemolytic-uremic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 347145	NM_000204.5(CFI):c.1661A>T (p.Glu554Val)	CFI (E554V +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 347147	NM_000204.5(CFI):c.1642G>C (p.Glu548Gln)	CFI (E548Q +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 252469	NM_000204.5(CFI):c.1534+5G>T	CFI	Single nucleotide variant (intron variant)	Factor I deficiency +6 more	GBenign/Likely benign
Select item 347156	NM_000204.5(CFI):c.1322A>G (p.Lys441Arg)	CFI (K441R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 347164	NM_000204.5(CFI):c.905-3T>C	CFI	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 347165	NM_000204.5(CFI):c.884-7T>C	CFI	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 65580	NM_000204.5(CFI):c.782G>A (p.Gly261Asp)	CFI (G261D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GLikely benign
Select item 347168	NM_000204.5(CFI):c.608C>T (p.Thr203Ile)	CFI (T203I)	Single nucleotide variant (missense variant +2 more)	Atypical hemolytic-uremic syndrome with I factor anomaly +3 more	GConflicting classifications of pathogenicity
Select item 717208	NM_000204.5(CFI):c.482+6C>A	CFI	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome +2 more	GBenign/Likely benign
Select item 347171	NM_000204.5(CFI):c.482+6C>T	CFI	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 369516	NM_000063.6(C2):c.1360+1G>A	C2, CFB	Single nucleotide variant (splice donor variant)	C2-related disorders +3 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)	Age related macular degeneration 14 +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)	Complement component 2 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 356251	NM_000063.6(C2):c.1529G>A (p.Arg510His)	C2, CFB (R510H +4 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 14 +4 more	GConflicting classifications of pathogenicity
Select item 369520	NM_000063.6(C2):c.1778G>A (p.Arg593Gln)	C2, CFB (R379Q +4 more)	Single nucleotide variant (missense variant)	Complement component 2 deficiency +4 more	GLikely benign
Select item 356254	NM_000063.6(C2):c.1835G>A (p.Ser612Asn)	C2, CFB (S612N +4 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 14 +4 more	GLikely benign
Select item 356256	NM_000063.6(C2):c.1902+6G>C	C2, CFB	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome +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)	Atypical hemolytic-uremic syndrome +4 more	GBenign/Likely benign
Select item 356258	NM_000063.6(C2):c.2046A>G (p.Ala682=)	C2, CFB	Single nucleotide variant (synonymous variant)	Age related macular degeneration 14 +5 more	GBenign/Likely benign
Select item 356259	NM_000063.6(C2):c.2080-8T>C	C2, CFB	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome +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 356266	NM_001710.5(CFB):c.-186delG	CFB	Deletion	Macular degeneration +1 more	GLikely benign
Select item 16077	NM_001710.6(CFB):c.26T>A (p.Leu9His)	C2, CFB (L9H)	Single nucleotide variant (missense variant)	Complement factor b deficiency +8 more	GBenign/Likely benign
Select item 16076	NM_001710.5(CFB):c.94C>T (p.Arg32Trp)	C2, CFB (R32W)	Single nucleotide variant (missense variant)	not provided +8 more	GBenign/Likely benign
Select item 16075	NM_001710.5(CFB):c.95G>A (p.Arg32Gln)	C2, CFB (R32Q)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 356268	NM_001710.6(CFB):c.221G>A (p.Arg74His)	C2, CFB (R74H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 356271	NM_001710.6(CFB):c.405C>T (p.Tyr135=)	C2, CFB	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +5 more	GBenign/Likely benign
Select item 356273	NM_001710.6(CFB):c.504G>A (p.Pro168=)	C2, CFB	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +5 more	GBenign/Likely benign
Select item 356274	NM_001710.6(CFB):c.600C>T (p.Ser200=)	CFB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 356279	NM_001710.6(CFB):c.724A>C (p.Ile242Leu)	CFB (I242L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 356280	NM_001710.6(CFB):c.754G>A (p.Gly252Ser)	C2, CFB (G252S)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 356281	NM_001710.6(CFB):c.858C>T (p.Phe286=)	C2, CFB	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome +5 more	GBenign/Likely benign
Select item 356284	NM_001710.6(CFB):c.1137C>T (p.Arg379=)	C2, CFB	Single nucleotide variant (synonymous variant)	Complement component 2 deficiency +9 more	GBenign/Likely benign
Select item 356285	NM_001710.6(CFB):c.1143C>T (p.Arg381=)	C2, CFB	Single nucleotide variant (synonymous variant)	not provided +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)	Age related macular degeneration 14 +7 more	GBenign/Likely benign
Select item 356292	NM_001710.6(CFB):c.1693A>G (p.Lys565Glu)	CFB (K565E)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with B factor anomaly +4 more	GBenign
Select item 365546	NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)	ADAMTS13 (P457L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 241475	NM_024426.6(WT1):c.1114-9T>C	WT1	Single nucleotide variant (intron variant)	Meacham syndrome +10 more	GBenign/Likely benign
Select item 301920	NM_004621.6(TRPC6):c.-254C>G	TRPC6	Single nucleotide variant (5 prime UTR variant)	Atypical hemolytic-uremic syndrome +2 more	GBenign
Select item 166838	NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)	CEP290 (R360Q)	Single nucleotide variant (missense variant)	Joubert syndrome 1 +11 more	GConflicting classifications of pathogenicity
Select item 330280	NM_000064.4(C3):c.4631-9C>T	C3	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 330283	NM_000064.4(C3):c.4457-5C>T	C3	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 330286	NM_000064.4(C3):c.4120+8G>T	C3	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome +2 more	GUncertain significance
Select item 330290	NM_000064.4(C3):c.3753C>A (p.Pro1251=)	C3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 330294	NM_000064.4(C3):c.3216G>T (p.Arg1072=)	C3	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 330303	NM_000064.4(C3):c.2450T>A (p.Val817Glu)	C3 (V817E)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +2 more	GUncertain significance
Select item 330306	NM_000064.4(C3):c.2403G>A (p.Thr801=)	C3	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome +2 more	GUncertain significance
Select item 330310	NM_000064.4(C3):c.2203C>T (p.Arg735Trp)	C3 (R735W)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +5 more	GConflicting classifications of pathogenicity
Select item 330312	NM_000064.4(C3):c.2067G>A (p.Glu689=)	C3	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 330313	NM_000064.4(C3):c.2048-14_2048-13del	C3	Microsatellite (intron variant)	not provided +3 more	GBenign
Select item 330319	NM_000064.4(C3):c.1767C>T (p.His589=)	C3	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 330326	NM_000064.4(C3):c.1303G>A (p.Glu435Lys)	C3 (E435K)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 330334	NM_000064.4(C3):c.783C>T (p.Tyr261=)	C3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign

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