Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_000064.4(C3):c.4941G>A (p.Gln1647=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs780251209 | RCV000287361|RCV000326976|RCV000381549; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134 | 19 | 6677944 | 6677944 | C | T | NC_000019.9:g.6677944C>T | ClinGen:CA9128196 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.4896C>T (p.Pro1632=) | 718 | C3 | Benign | rs17030 | RCV000283840|RCV000323725|RCV000378258|RCV001516630|RCV001529090; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202|MedGen:CN169374 | 19 | 6677989 | 6677989 | G | A | NC_000019.9:g.6677989G>A | ClinGen:CA9128202 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.4878T>C (p.Thr1626=) | 718 | C3 | Benign/Likely benign | rs1803223 | RCV000972332|RCV001131457|RCV001131458|RCV001131459|RCV001819123; | N | MedGen:CN517202|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN169374 | 19 | 6678007 | 6678007 | A | G | 19:g.6678007A>G | - | | |
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) | 718 | C3 | Conflicting interpretations of pathogenicity | rs2230210 | RCV000279318|RCV000337839|RCV000395497|RCV000948468|RCV001281035|RCV001820990; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133 | 19 | 6678030 | 6678030 | T | G | NC_000019.9:g.6678030T>G | ClinGen:CA9128209,UniProtKB:P01024#VAR_029326 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.4850+12C>A | 718 | C3 | Conflicting interpretations of pathogenicity | rs748416799 | RCV000314182|RCV000334388|RCV000399667; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133 | 19 | 6678151 | 6678151 | G | T | NC_000019.9:g.6678151G>T | ClinGen:CA9128240 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.4827C>T (p.Ser1609=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs150537373 | RCV000310546|RCV000350353|RCV000402383|RCV002057532; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202 | 19 | 6678186 | 6678186 | G | A | NC_000019.9:g.6678186G>A | ClinGen:CA9128245 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.4824C>T (p.Ser1608=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs139457470 | RCV000935897|RCV001134437|RCV001134439|RCV001134438; | N | MedGen:CN517202|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6678189 | 6678189 | G | A | 19:g.6678189G>A | - | | |
NM_000064.4(C3):c.4803C>T (p.His1601=) | 718 | C3 | Uncertain significance | rs762332809 | RCV000270705|RCV000307062|RCV000365261|RCV001820991; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN169374 | 19 | 6678210 | 6678210 | G | A | NC_000019.9:g.6678210G>A | ClinGen:CA9128252 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.4767G>A (p.Lys1589=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs144589541 | RCV000266935|RCV000322076|RCV000361583|RCV000907622; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202 | 19 | 6678246 | 6678246 | C | T | NC_000019.9:g.6678246C>T | ClinGen:CA9128262 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.4759C>T (p.Pro1587Ser) | 718 | C3 | Conflicting interpretations of pathogenicity | rs746985605 | RCV000261966|RCV000317155|RCV000376726; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6678254 | 6678254 | G | A | NC_000019.9:g.6678254G>A | ClinGen:CA9128264 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) | 718 | C3 | Benign | rs149202905 | RCV000296014|RCV000351093|RCV000371740|RCV000898770; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6678452 | 6678452 | G | T | NC_000019.9:g.6678452G>T | ClinGen:CA9128306 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.4645C>T (p.Leu1549=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs149202905 | RCV000907738|RCV001128908|RCV001128909|RCV001128907; | N | MedGen:CN517202|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133 | 19 | 6678452 | 6678452 | G | A | 19:g.6678452G>A | - | | |
NM_000064.4(C3):c.4635C>T (p.Tyr1545=) | 718 | C3 | Benign/Likely benign | rs189948635 | RCV000292717|RCV000347613|RCV000387018|RCV000915890; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6678462 | 6678462 | G | A | NC_000019.9:g.6678462G>A | ClinGen:CA9128310 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.4631-8C>T | 718 | C3 | Benign | rs11569565 | RCV000307471|RCV000343663|RCV000399993|RCV001521400; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202 | 19 | 6678474 | 6678474 | G | A | NC_000019.9:g.6678474G>A | ClinGen:CA9128312 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.4631-9C>T | 718 | C3 | Benign/Likely benign | rs116302413 | RCV000304328|RCV000359050|RCV000399157|RCV000964033; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202 | 19 | 6678475 | 6678475 | G | A | NC_000019.9:g.6678475G>A | ClinGen:CA9128313 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.4546+58A>G | 718 | C3 | Benign | -1 | RCV001554740|RCV001554739|RCV001615329; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6679360 | 6679360 | T | C | 6679360 | - | | |
NM_000064.4(C3):c.4535G>A (p.Arg1512His) | 718 | C3 | Conflicting interpretations of pathogenicity | rs142868256 | RCV000264234|RCV000300709|RCV000355975; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6679429 | 6679429 | C | T | NC_000019.9:g.6679429C>T | ClinGen:CA9128367 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.4471C>T (p.Arg1491Trp) | 718 | C3 | Conflicting interpretations of pathogenicity | rs140928439 | RCV001132614|RCV001132612|RCV001132613|RCV001856710; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6679493 | 6679493 | G | A | 19:g.6679493G>A | - | | |
NM_000064.4(C3):c.4457-4G>A | 718 | C3 | Benign | rs2277984 | RCV000261116|RCV000316465|RCV000389627|RCV001516631|RCV001528544; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202|MedGen:CN169374 | 19 | 6679511 | 6679511 | C | T | NC_000019.9:g.6679511C>T | ClinGen:CA9128380 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.4457-5C>T | 718 | C3 | Benign | rs344554 | RCV000276281|RCV000331376|RCV000385956|RCV000880912|RCV001726123; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202|MedGen:CN169374 | 19 | 6679512 | 6679512 | G | A | NC_000019.9:g.6679512G>A | ClinGen:CA9128381 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.4457-56A>G | 718 | C3 | Benign | -1 | RCV001554742|RCV001554741|RCV001694120; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6679563 | 6679563 | T | C | 6679563 | - | | |
NM_000064.4(C3):c.4353C>G (p.Val1451=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs750821412 | RCV001129025|RCV001129024|RCV001135995|RCV002070503; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6680272 | 6680272 | G | C | 19:g.6680272G>C | - | | |
NM_000064.4(C3):c.4319A>C (p.Asp1440Ala) | 718 | C3 | Conflicting interpretations of pathogenicity | rs147116781 | RCV000291733|RCV000346899|RCV000382806|RCV001507912; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6681983 | 6681983 | T | G | NC_000019.9:g.6681983T>G | ClinGen:CA9128437 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.4311C>T (p.Ala1437=) | 718 | C3 | Benign | rs7951 | RCV000288335|RCV000343346|RCV000397782|RCV001515570; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202 | 19 | 6681991 | 6681991 | G | A | NC_000019.9:g.6681991G>A | ClinGen:CA9128442 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.4257G>A (p.Lys1419=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs768065757 | RCV001131704|RCV001131702|RCV001131703|RCV002070540; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202 | 19 | 6682156 | 6682156 | C | T | 19:g.6682156C>T | - | | |
NM_000064.4(C3):c.4148C>A (p.Thr1383Asn) | 718 | C3 | Conflicting interpretations of pathogenicity | rs139100972 | RCV000782234|RCV001131706|RCV001131705|RCV001131707; | N | MedGen:CN517202|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6684423 | 6684423 | G | T | 19:g.6684423G>T | - | | |
NM_000064.4(C3):c.4121-4C>T | 718 | C3 | Uncertain significance | rs747452882 | RCV001131708|RCV001131709|RCV001132716; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6684454 | 6684454 | G | A | 19:g.6684454G>A | - | | |
NM_000064.4(C3):c.4095C>G (p.Val1365=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs527830114 | RCV000298012|RCV000352926|RCV000393921|RCV002057533; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6684596 | 6684596 | G | C | NC_000019.9:g.6684596G>C | ClinGen:CA9128529 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.4030-4C>T | 718 | C3 | Conflicting interpretations of pathogenicity | rs372612816 | RCV000275490|RCV000315441|RCV000367747|RCV002057534; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202 | 19 | 6684665 | 6684665 | G | A | NC_000019.9:g.6684665G>A | ClinGen:CA9128539 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.3993A>G (p.Thr1331=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs202210310 | RCV000269438|RCV000328138|RCV000366481|RCV002057535; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6684822 | 6684822 | T | C | NC_000019.9:g.6684822T>C | ClinGen:CA9128556 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.3970-15C>G | 718 | C3 | Uncertain significance | rs1233140401 | RCV001136120|RCV001136121|RCV001136122; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6684860 | 6684860 | G | C | 19:g.6684860G>C | - | | |
NM_000064.4(C3):c.3953T>G (p.Leu1318Arg) | 718 | C3 | Conflicting interpretations of pathogenicity | rs769873702 | RCV001136123|RCV001136125|RCV001136124|RCV001873534; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6685015 | 6685015 | A | C | 19:g.6685015A>C | - | | |
NM_000064.4(C3):c.3793G>A (p.Gly1265Ser) | 718 | C3 | Uncertain significance | rs1918001974 | RCV001129147|RCV001129149|RCV001129148; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6686152 | 6686152 | C | T | 19:g.6686152C>T | - | | |
NM_000064.4(C3):c.3753C>A (p.Pro1251=) | 718 | C3 | Benign | rs2230209 | RCV000287097|RCV000326797|RCV000379168|RCV000972947; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202 | 19 | 6686192 | 6686192 | G | T | NC_000019.9:g.6686192G>T | ClinGen:CA9128646 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.3687C>T (p.Asn1229=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs201108539 | RCV000281154|RCV000320851|RCV000377842|RCV001475689; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6686258 | 6686258 | G | A | NC_000019.9:g.6686258G>A | ClinGen:CA9128660 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) | 718 | C3 | Conflicting interpretations of pathogenicity | rs11569534 | RCV000279638|RCV000338521|RCV000396966|RCV000788906|RCV001727686; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202|MedGen:CN169374 | 19 | 6686274 | 6686274 | C | T | NC_000019.9:g.6686274C>T | ClinGen:CA9128662,UniProtKB:P01024#VAR_019207 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.3646+98A>G | 718 | C3 | Benign | -1 | RCV001554743|RCV001554744|RCV001615330; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202 | 19 | 6686659 | 6686659 | T | C | 6686659 | - | | |
NM_000064.4(C3):c.3586C>T (p.Leu1196=) | 718 | C3 | Uncertain significance | rs1918019867 | RCV001131826|RCV001131827|RCV001131828; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133 | 19 | 6686817 | 6686817 | G | A | 19:g.6686817G>A | - | | |
NM_000064.4(C3):c.3449C>G (p.Ser1150Trp) | 718 | C3 | Uncertain significance | rs1178318400 | RCV001131829|RCV001132813|RCV001132814; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6690680 | 6690680 | G | C | 19:g.6690680G>C | - | | |
NM_000064.4(C3):c.3411C>T (p.Asn1137=) | 718 | C3 | Uncertain significance | rs753019751 | RCV001132815|RCV001132816|RCV001132817; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133 | 19 | 6690718 | 6690718 | G | A | 19:g.6690718G>A | - | | |
NM_000064.4(C3):c.3407A>G (p.Asn1136Ser) | 718 | C3 | Uncertain significance | rs1918144043 | RCV001132819|RCV001132818|RCV001132820; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6690722 | 6690722 | T | C | 19:g.6690722T>C | - | | |
NM_000064.4(C3):c.3391-4T>C | 718 | C3 | Benign | rs11569510 | RCV001136208|RCV001136210|RCV001136209|RCV001515233; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6690742 | 6690742 | A | G | 19:g.6690742A>G | - | | |
NM_000064.4(C3):c.3391-6T>C | 718 | C3 | Benign | rs11569509 | RCV001136211|RCV001136212|RCV001136213|RCV001515234; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6690744 | 6690744 | A | G | 19:g.6690744A>G | - | | |
NM_000064.4(C3):c.3391-8T>C | 718 | C3 | Benign | rs11569508 | RCV001129251|RCV001136214|RCV001136215|RCV001515235; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6690746 | 6690746 | A | G | 19:g.6690746A>G | - | | |
NM_000064.4(C3):c.3299T>C (p.Leu1100Pro) | 718 | C3 | Uncertain significance | rs750654763 | RCV000311409|RCV000350872|RCV000398615|RCV001859955; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6693026 | 6693026 | A | G | NC_000019.9:g.6693026A>G | ClinGen:CA9128779 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.3216G>T (p.Arg1072=) | 718 | C3 | Benign/Likely benign | rs137880434 | RCV000310308|RCV000368356|RCV000402412|RCV000891303|RCV001701855; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202|MedGen:CN169374 | 19 | 6693437 | 6693437 | C | A | NC_000019.9:g.6693437C>A | ClinGen:CA9128814 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.3024G>A (p.Ser1008=) | 718 | C3 | Uncertain significance | rs779366181 | RCV001129252|RCV001131950|RCV001131951; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133 | 19 | 6694572 | 6694572 | C | T | 19:g.6694572C>T | - | | |
NM_000064.4(C3):c.2951-5_2951-3del | 718 | C3 | Conflicting interpretations of pathogenicity | rs544122376 | RCV000767911|RCV000902612; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134; MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378; MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6694648 | 6694650 | TGCA | T | NC_000019.9:g.6694649CAG[1] | - | | |
NM_000064.4(C3):c.2950+48T>C | 718 | C3 | Benign | -1 | RCV001554745|RCV001554746|RCV001685526; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202 | 19 | 6696342 | 6696342 | A | G | 6696342 | - | | |
NM_000064.4(C3):c.2907C>T (p.Asp969=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs144672500 | RCV000270342|RCV000323045|RCV000362131|RCV001442188; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6696433 | 6696433 | G | A | NC_000019.9:g.6696433G>A | ClinGen:CA9128916 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.2901C>T (p.Leu967=) | 718 | C3 | Benign/Likely benign | rs34029609 | RCV000264315|RCV000321805|RCV000361389|RCV000885899|RCV001820992; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202|MedGen:CN169374 | 19 | 6696439 | 6696439 | G | A | NC_000019.9:g.6696439G>A | ClinGen:CA9128918 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.2864-20A>G | 718 | C3 | Benign | -1 | RCV001511595|RCV001530054|RCV001554748|RCV001554747; | N | MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133 | 19 | 6696496 | 6696496 | T | C | 6696496 | - | | |
NM_000064.4(C3):c.2863+47G>C | 718 | C3 | Benign | -1 | RCV001554749|RCV001554750|RCV001638173; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202 | 19 | 6696557 | 6696557 | C | G | 6696557 | - | | |
NM_000064.4(C3):c.2863+15G>T | 718 | C3 | Conflicting interpretations of pathogenicity | rs759976981 | RCV001132906|RCV001132905|RCV001132907|RCV002070551; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6696589 | 6696589 | C | A | 19:g.6696589C>A | - | | |
NM_000064.4(C3):c.2863+7C>T | 718 | C3 | Benign | rs2287845 | RCV000281934|RCV000317538|RCV000374021|RCV001516632|RCV001529674; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202|MedGen:CN169374 | 19 | 6696597 | 6696597 | G | A | NC_000019.9:g.6696597G>A | ClinGen:CA9128948 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.2861G>A (p.Arg954His) | 718 | C3 | Conflicting interpretations of pathogenicity | rs139864704 | RCV000442662|RCV001136341|RCV001136338|RCV001136339; | N | MedGen:CN517202|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134 | 19 | 6696606 | 6696606 | C | T | 19:g.6696606C>T | ClinGen:CA9128952 | CN169374 not specified; | |
NM_000064.4(C3):c.2857G>A (p.Gly953Ser) | 718 | C3 | Uncertain significance | rs779124363 | RCV000296478|RCV000349100|RCV000388327; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6696610 | 6696610 | C | T | NC_000019.9:g.6696610C>T | ClinGen:CA9128953 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.2799G>A (p.Pro933=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs149209011 | RCV000290612|RCV000347863|RCV000387056|RCV001519032; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6696668 | 6696668 | C | T | NC_000019.9:g.6696668C>T | ClinGen:CA9128960 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.2797-5C>T | 718 | C3 | Conflicting interpretations of pathogenicity | rs369673832 | RCV001129346|RCV001129347|RCV001129348|RCV002070507; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202 | 19 | 6696675 | 6696675 | G | A | 19:g.6696675G>A | - | | |
NM_000064.4(C3):c.2797-21C>A | 718 | C3 | Benign | -1 | RCV001554399|RCV001554400|RCV001655897; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202 | 19 | 6696691 | 6696691 | G | T | 6696691 | - | | |
NM_000064.4(C3):c.2797-29C>T | 718 | C3 | Benign | -1 | RCV001554401|RCV001554402|RCV001694108; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202 | 19 | 6696699 | 6696699 | G | A | 6696699 | - | | |
NM_000064.4(C3):c.2793C>T (p.Val931=) | 718 | C3 | Uncertain significance | rs781226831 | RCV001129350|RCV001129351|RCV001129352; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6697358 | 6697358 | G | A | 19:g.6697358G>A | - | | |
NM_000064.4(C3):c.2745T>C (p.Ala915=) | 718 | C3 | Benign | rs423490 | RCV000308367|RCV000342250|RCV000394673|RCV001516633|RCV001529342; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202|MedGen:CN169374 | 19 | 6697406 | 6697406 | A | G | NC_000019.9:g.6697406A>G | ClinGen:CA9128980 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.2715C>T (p.Thr905=) | 718 | C3 | Benign | rs2230208 | RCV000302492|RCV000359714|RCV000390479|RCV001516634; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6697436 | 6697436 | G | A | NC_000019.9:g.6697436G>A | ClinGen:CA9128983 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.2700C>G (p.Ile900Met) | 718 | C3 | Uncertain significance | rs763155610 | RCV000262667|RCV000301471|RCV000354037; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133 | 19 | 6697451 | 6697451 | G | C | NC_000019.9:g.6697451G>C | ClinGen:CA9128993 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.2670C>G (p.Pro890=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs137956083 | RCV001133004|RCV001133005|RCV001133006|RCV002070553; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202 | 19 | 6697481 | 6697481 | G | C | 19:g.6697481G>C | - | | |
NM_000064.4(C3):c.2646C>T (p.His882=) | 718 | C3 | Uncertain significance | rs377316231 | RCV001133007|RCV001136441|RCV001136440; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6697505 | 6697505 | G | A | 19:g.6697505G>A | - | | |
NM_000064.4(C3):c.2617T>C (p.Cys873Arg) | 718 | C3 | Uncertain significance | rs1967565177 | RCV001136442|RCV001136444|RCV001136443; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134 | 19 | 6697534 | 6697534 | A | G | 19:g.6697534A>G | - | | |
NM_000064.4(C3):c.2584G>T (p.Val862Leu) | 718 | C3 | Uncertain significance | rs1967565745 | RCV001136445|RCV001136446|RCV001136447; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134 | 19 | 6697567 | 6697567 | C | A | 19:g.6697567C>A | - | | |
NM_000064.4(C3):c.2583+9C>T | 718 | C3 | Conflicting interpretations of pathogenicity | rs372400121 | RCV000892309|RCV001129456|RCV001129457|RCV001129458; | N | MedGen:CN517202|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6697654 | 6697654 | G | A | 19:g.6697654G>A | - | | |
NM_000064.4(C3):c.2441-6G>A | 718 | C3 | Uncertain significance | rs752216964 | RCV001129459|RCV001129460|RCV001129461; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6697811 | 6697811 | C | T | 19:g.6697811C>T | - | | |
NM_000064.4(C3):c.2441-24C>A | 718 | C3 | Benign | -1 | RCV001554404|RCV001554403|RCV001638167; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6697829 | 6697829 | G | T | 6697829 | - | | |
NM_000064.4(C3):c.2440+116C>G | 718 | C3 | Benign | -1 | RCV001554406|RCV001554405|RCV001673206; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6702022 | 6702022 | G | C | 6702022 | - | | |
NM_000064.4(C3):c.2440+96T>C | 718 | C3 | Benign | -1 | RCV001554408|RCV001554407|RCV001638168; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6702042 | 6702042 | A | G | 6702042 | - | | |
NM_000064.4(C3):c.2430G>A (p.Ser810=) | 718 | C3 | Benign | rs2230207 | RCV000274411|RCV000331724|RCV000383997|RCV001519270; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202 | 19 | 6702148 | 6702148 | C | T | NC_000019.9:g.6702148C>T | ClinGen:CA9129087 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.2429C>T (p.Ser810Leu) | 718 | C3 | Uncertain significance | rs781280055 | RCV001132178|RCV001132179|RCV001132180; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134 | 19 | 6702149 | 6702149 | G | A | 19:g.6702149G>A | - | | |
NM_000064.4(C3):c.2421G>C (p.Val807=) | 718 | C3 | Benign | rs428453 | RCV000291985|RCV000344527|RCV000382623|RCV001519271|RCV001529067; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202|MedGen:CN169374 | 19 | 6702157 | 6702157 | C | G | NC_000019.9:g.6702157C>G | ClinGen:CA9129090 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.2394C>T (p.Ser798=) | 718 | C3 | Benign/Likely benign | rs112178657 | RCV000303544|RCV000337428|RCV000400746|RCV000957850|RCV001820993; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202|MedGen:CN169374 | 19 | 6702184 | 6702184 | G | A | NC_000019.9:g.6702184G>A | ClinGen:CA9129091 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.2390A>C (p.Asp797Ala) | 718 | C3 | Uncertain significance | rs1967690681 | RCV001133110|RCV001133111|RCV001133112; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134 | 19 | 6702188 | 6702188 | T | G | 19:g.6702188T>G | - | | |
NM_000064.4(C3):c.2355-23A>G | 718 | C3 | Benign | -1 | RCV001554504|RCV001554505|RCV001673209; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202 | 19 | 6702246 | 6702246 | T | C | 6702246 | - | | |
NM_000064.4(C3):c.2246-8C>T | 718 | C3 | Benign | rs406514 | RCV000277187|RCV000297613|RCV000369463|RCV001519272|RCV001528595; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202|MedGen:CN169374 | 19 | 6702598 | 6702598 | G | A | NC_000019.9:g.6702598G>A | ClinGen:CA9129136 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.2245+15G>A | 718 | C3 | Benign/Likely benign | rs11569434 | RCV000271438|RCV000311327|RCV000368309|RCV001523770; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202 | 19 | 6707072 | 6707072 | C | T | NC_000019.9:g.6707072C>T | ClinGen:CA9129155 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.2207G>A (p.Arg736Gln) | 718 | C3 | Conflicting interpretations of pathogenicity | rs578116271 | RCV001129557|RCV001129559|RCV001129558; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134 | 19 | 6707125 | 6707125 | C | T | 19:g.6707125C>T | - | | |
NM_000064.4(C3):c.2203C>T (p.Arg735Trp) | 718 | C3 | Conflicting interpretations of pathogenicity | rs117793540 | RCV000269843|RCV000328876|RCV000381202|RCV001820994|RCV002057536; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN169374|MedGen:CN517202 | 19 | 6707129 | 6707129 | G | A | NC_000019.9:g.6707129G>A | ClinGen:CA9129171,UniProtKB:P01024#VAR_063215 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.2184C>T (p.Cys728=) | 718 | C3 | Benign/Likely benign | rs200258941 | RCV000283170|RCV000323108|RCV000380028|RCV002057537; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6707148 | 6707148 | G | A | NC_000019.9:g.6707148G>A | ClinGen:CA9129176 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.2157G>A (p.Ala719=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs143671993 | RCV000896462|RCV001132291|RCV001132292|RCV001132293; | N | MedGen:CN517202|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133 | 19 | 6707175 | 6707175 | C | T | 19:g.6707175C>T | - | | |
NM_000064.4(C3):c.2067G>A (p.Glu689=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs147477257 | RCV000281882|RCV000321888|RCV000374090|RCV000958441; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202 | 19 | 6707265 | 6707265 | C | T | NC_000019.9:g.6707265C>T | ClinGen:CA9129195 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.1898A>G (p.Lys633Arg) | 718 | C3 | Conflicting interpretations of pathogenicity | rs140655115 | RCV000312677|RCV000352497|RCV000402109|RCV000788141; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6707888 | 6707888 | T | C | NC_000019.9:g.6707888T>C | ClinGen:CA9129280 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.1873A>T (p.Ile625Phe) | 718 | C3 | Conflicting interpretations of pathogenicity | rs144432231 | RCV000365239|RCV000398343|RCV001029978|RCV001820995|RCV002057538; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN169374|MedGen:CN517202 | 19 | 6707913 | 6707913 | T | A | NC_000019.9:g.6707913T>A | ClinGen:CA9129285 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.1855G>A (p.Val619Met) | 718 | C3 | Conflicting interpretations of pathogenicity | rs146613648 | RCV000267223|RCV000324678|RCV000364011|RCV001859956; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6707931 | 6707931 | C | T | NC_000019.9:g.6707931C>T | ClinGen:CA9129286 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.1836G>A (p.Thr612=) | 718 | C3 | Benign | rs2230205 | RCV000266157|RCV000318975|RCV000358505|RCV001521401; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6709704 | 6709704 | C | T | NC_000019.9:g.6709704C>T | ClinGen:CA9129324 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.1819A>G (p.Lys607Glu) | 718 | C3 | Conflicting interpretations of pathogenicity | rs140637006 | RCV000281611|RCV000317944|RCV000375917; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6709721 | 6709721 | T | C | NC_000019.9:g.6709721T>C | ClinGen:CA9129328 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.1758G>A (p.Glu586=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs764201055 | RCV000288369|RCV000347980|RCV000395644|RCV002057540|RCV002057539; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133 | 19 | 6709782 | 6709782 | C | T | NC_000019.9:g.6709782C>T | ClinGen:CA9129341 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.1725T>C (p.Pro575=) | 718 | C3 | Uncertain significance | rs1967865144 | RCV001129674|RCV001129676|RCV001129675; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134 | 19 | 6709815 | 6709815 | A | G | 19:g.6709815A>G | - | | |
NM_000064.4(C3):c.1692G>A (p.Val564=) | 718 | C3 | Benign | rs2230204 | RCV000303712|RCV000358237|RCV000395652|RCV001519273; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202 | 19 | 6709848 | 6709848 | C | T | NC_000019.9:g.6709848C>T | ClinGen:CA9129354 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.1686+78C>T | 718 | C3 | Benign | -1 | RCV001554506|RCV001554507|RCV001709741; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202 | 19 | 6710572 | 6710572 | G | A | 6710572 | - | | |
NM_000064.4(C3):c.1686+48TC[8] | 718 | C3 | Benign | -1 | RCV001554508|RCV001554509|RCV001595110; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202 | 19 | 6710585 | 6710586 | GGA | G | 6710584 | - | | |
NM_000064.4(C3):c.1686+10C>T | 718 | C3 | Uncertain significance | rs776885748 | RCV001132390|RCV001132389|RCV001132391; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6710640 | 6710640 | G | A | 19:g.6710640G>A | - | | |
NM_000064.4(C3):c.1685C>T (p.Ser562Leu) | 718 | C3 | Conflicting interpretations of pathogenicity | rs200541526 | RCV001132392|RCV001132393|RCV001132394|RCV001856709; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6710651 | 6710651 | G | A | 19:g.6710651G>A | - | | |
NM_000064.4(C3):c.1653G>T (p.Val551=) | 718 | C3 | Benign | rs344534 | RCV000304512|RCV000354620|RCV000390353|RCV000962608|RCV001820996; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202|MedGen:CN169374 | 19 | 6710683 | 6710683 | C | A | NC_000019.9:g.6710683C>A | ClinGen:CA9129386 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.1623C>T (p.Ser541=) | 718 | C3 | Benign/Likely benign | rs202078483 | RCV000260020|RCV000319922|RCV000355914|RCV000903158; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6710713 | 6710713 | G | A | NC_000019.9:g.6710713G>A | ClinGen:CA9129393 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.1554C>A (p.Pro518=) | 718 | C3 | Benign | rs2230203 | RCV000275322|RCV000329939|RCV000389103|RCV001515571; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6710782 | 6710782 | G | T | NC_000019.9:g.6710782G>T | ClinGen:CA9129407 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.1508C>T (p.Ala503Val) | 718 | C3 | Conflicting interpretations of pathogenicity | rs781417846 | RCV001133315|RCV001134783|RCV001134784; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134 | 19 | 6710828 | 6710828 | G | A | 19:g.6710828G>A | - | | |
NM_000064.4(C3):c.1480-4C>A | 718 | C3 | Conflicting interpretations of pathogenicity | rs200965763 | RCV001134785|RCV001134787|RCV001134786|RCV002070573; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202 | 19 | 6710860 | 6710860 | G | T | 19:g.6710860G>T | - | | |
NM_000064.4(C3):c.1470C>T (p.Tyr490=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs762635358 | RCV001134789|RCV001134788|RCV001134790|RCV002070574; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202 | 19 | 6711007 | 6711007 | G | A | 19:g.6711007G>A | - | | |
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) | 718 | C3 | Conflicting interpretations of pathogenicity | rs11569422 | RCV000276071|RCV000326470|RCV000990138|RCV000964034; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202 | 19 | 6711070 | 6711070 | C | G | 19:g.6711070C>G | ClinGen:CA9129464,UniProtKB:P01024#VAR_020262 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.1303G>A (p.Glu435Lys) | 718 | C3 | Uncertain significance | rs774826179 | RCV000291028|RCV000345960|RCV000377214; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6711174 | 6711174 | C | T | NC_000019.9:g.6711174C>T | ClinGen:CA9129487 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.1296G>A (p.Ser432=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs760150621 | RCV001129800|RCV001129801|RCV001132498|RCV001455856; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202 | 19 | 6711181 | 6711181 | C | T | 19:g.6711181C>T | - | | |
NM_000064.4(C3):c.1269+14C>A | 718 | C3 | Uncertain significance | rs886054655 | RCV000283256|RCV000342961|RCV000397979; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6712254 | 6712254 | G | T | NC_000019.9:g.6712254G>T | ClinGen:CA10649187 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.1164C>T (p.Pro388=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs769368306 | RCV000298553|RCV000334622|RCV000400576; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133 | 19 | 6712373 | 6712373 | G | A | NC_000019.9:g.6712373G>A | ClinGen:CA9129537 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.1119+15G>A | 718 | C3 | Benign | rs114252882 | RCV000277555|RCV000299557|RCV000368315|RCV001512601; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6712504 | 6712504 | C | T | NC_000019.9:g.6712504C>T | ClinGen:CA9129556 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.1119+14C>T | 718 | C3 | Conflicting interpretations of pathogenicity | rs374368486 | RCV000269291|RCV000313893|RCV000363891|RCV002057541; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6712505 | 6712505 | G | A | NC_000019.9:g.6712505G>A | ClinGen:CA9129557 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.1119+10G>A | 718 | C3 | Conflicting interpretations of pathogenicity | rs752328639 | RCV000930261|RCV001133417|RCV001133419|RCV001133418; | N | MedGen:CN517202|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6712509 | 6712509 | C | T | 19:g.6712509C>T | - | | |
NM_000064.4(C3):c.1098A>G (p.Pro366=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs757883156 | RCV001134903|RCV001134905|RCV001134904|RCV002070575; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6712540 | 6712540 | T | C | 19:g.6712540T>C | - | | |
NM_000064.4(C3):c.1042A>G (p.Ile348Val) | 718 | C3 | Conflicting interpretations of pathogenicity | rs141737564 | RCV000266004|RCV000329218|RCV000383819|RCV001507918; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202 | 19 | 6712596 | 6712596 | T | C | NC_000019.9:g.6712596T>C | ClinGen:CA9129574 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.941C>T (p.Pro314Leu) | 718 | C3 | Benign | rs1047286 | RCV000018586|RCV000286026|RCV000321048|RCV000380392|RCV001515572; | N | |MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6713262 | 6713262 | G | A | 19:g.6713262G>A | ClinGen:CA127064,UniProtKB:P01024#VAR_001984,OMIM:120700.0002 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.928G>A (p.Gly310Arg) | 718 | C3 | Conflicting interpretations of pathogenicity | rs139527231 | RCV001129880|RCV001129349|RCV001129881|RCV001873520; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6713275 | 6713275 | C | T | 19:g.6713275C>T | - | | |
NM_000064.4(C3):c.912G>A (p.Arg304=) | 718 | C3 | Benign | rs2230201 | RCV000281695|RCV000336385|RCV000372395|RCV001521402; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202 | 19 | 6713291 | 6713291 | C | T | NC_000019.9:g.6713291C>T | ClinGen:CA9129620 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.835G>A (p.Glu279Lys) | 718 | C3 | Conflicting interpretations of pathogenicity | rs146167974 | RCV001129882|RCV001130593|RCV001129883|RCV001856689; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6713459 | 6713459 | C | T | 19:g.6713459C>T | - | | |
NM_000064.4(C3):c.819C>T (p.Phe273=) | 718 | C3 | Uncertain significance | rs886054656 | RCV000310960|RCV000336702|RCV000396953; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134 | 19 | 6713475 | 6713475 | G | A | NC_000019.9:g.6713475G>A | ClinGen:CA10652819 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.783C>T (p.Tyr261=) | 718 | C3 | Benign | rs2230200 | RCV000308536|RCV000352835|RCV000396960|RCV000962655|RCV001795950; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202|MedGen:CN169374 | 19 | 6713511 | 6713511 | G | A | NC_000019.9:g.6713511G>A | ClinGen:CA9129665 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.774-4G>A | 718 | C3 | Conflicting interpretations of pathogenicity | rs368095422 | RCV000273085|RCV000309466|RCV000363187|RCV002057542; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202 | 19 | 6713524 | 6713524 | C | T | 19:g.6713524C>T | ClinGen:CA9129668 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.763A>G (p.Ile255Val) | 718 | C3 | Conflicting interpretations of pathogenicity | rs746486431 | RCV001133542|RCV001133541|RCV001133543|RCV001856720; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202 | 19 | 6714013 | 6714013 | T | C | 19:g.6714013T>C | - | | |
NM_000064.4(C3):c.741C>T (p.Asn247=) | 718 | C3 | Benign | rs11569571 | RCV000264988|RCV000324484|RCV000359581|RCV001523349|RCV001702426; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202|MedGen:CN169374 | 19 | 6714035 | 6714035 | G | A | 19:g.6714035G>A | ClinGen:CA9129702 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.681C>T (p.Tyr227=) | 718 | C3 | Conflicting interpretations of pathogenicity | rs756694755 | RCV000260974|RCV000316235|RCV000360459|RCV001319506; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202 | 19 | 6714178 | 6714178 | G | A | 19:g.6714178G>A | ClinGen:CA9129737 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.600-14C>T | 718 | C3 | Benign | rs3745558 | RCV000281108|RCV000331622|RCV000375666|RCV001516403; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202 | 19 | 6714273 | 6714273 | G | A | 19:g.6714273G>A | ClinGen:CA9129753 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.588G>A (p.Pro196=) | 718 | C3 | Benign | rs150007726 | RCV000294782|RCV000345078|RCV000386072|RCV000953080|RCV001820997; | N | MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202|MedGen:CN169374 | 19 | 6714374 | 6714374 | C | T | 19:g.6714374C>T | ClinGen:CA9129774 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.463A>C (p.Lys155Gln) | 718 | C3 | Conflicting interpretations of pathogenicity | rs147859257 | RCV000077796|RCV000202831|RCV000765476|RCV000963525|RCV001130000|RCV001130002|RCV001130001; | N | |MedGen:CN169374|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378; MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134; MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MedGen:CN517202|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:61377 | 19 | 6718146 | 6718146 | T | G | 19:g.6718146T>G | ClinGen:CA213419,UniProtKB:P01024#VAR_070941,OMIM:120700.0010 | CN169374 not specified; | |
NM_000064.4(C3):c.453C>T (p.Thr151=) | 718 | C3 | Uncertain significance | rs148870667 | RCV001130003|RCV001130004|RCV001130005; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134 | 19 | 6718156 | 6718156 | G | A | 19:g.6718156G>A | - | | |
NM_000064.4(C3):c.443G>A (p.Arg148Gln) | 718 | C3 | Uncertain significance | rs886054657 | RCV000291131|RCV000346017|RCV000395575|RCV001507922; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MedGen:CN517202 | 19 | 6718166 | 6718166 | C | T | 19:g.6718166C>T | ClinGen:CA10643358 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.304C>G (p.Arg102Gly) | 718 | C3 | Benign | rs2230199 | RCV000018584|RCV000018585|RCV000395565|RCV001521403; | N | ||MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MedGen:CN517202 | 19 | 6718387 | 6718387 | G | C | 19:g.6718387G>C | ClinGen:CA127061,UniProtKB:P01024#VAR_001983,OMIM:120700.0001 | C0024437 Macular degeneration; | |
NM_000064.4(C3):c.267+9A>G | 718 | C3 | Uncertain significance | rs762058420 | RCV001130717|RCV001130715|RCV001130716; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6719213 | 6719213 | T | C | 19:g.6719213T>C | - | | |
NM_000064.4(C3):c.48C>A (p.His16Gln) | 718 | C3 | Conflicting interpretations of pathogenicity | rs184455094 | RCV001130718|RCV001130719|RCV001133671; | N | MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133 | 19 | 6720553 | 6720553 | G | T | 19:g.6720553G>T | - | | |
NM_000064.4(C3):c.26T>C (p.Leu9Pro) | 718 | C3 | Conflicting interpretations of pathogenicity | rs138214338 | RCV001092937|RCV001133672|RCV001133673|RCV001133674; | N | MedGen:CN517202|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133 | 19 | 6720575 | 6720575 | A | G | 19:g.6720575A>G | - | | |
NM_000064.4(C3):c.-28C>G | 718 | C3 | Benign | rs339394 | RCV000263307|RCV000298479|RCV000353431; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6720628 | 6720628 | G | C | 19:g.6720628G>C | ClinGen:CA9129935 | C2931788 Atypical hemolytic uremic syndrome; | |
NM_000064.4(C3):c.-44C>T | 718 | C3 | Uncertain significance | rs773043245 | RCV001133675|RCV001135169|RCV001135170; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6720644 | 6720644 | G | A | 19:g.6720644G>A | - | | |
NC_000019.10:g.6720664T>G | 718 | C3 | Uncertain significance | rs1316357912 | RCV001135171|RCV001135173|RCV001135172; | N | MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779, Orphanet:280133|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925, Orphanet:2134|MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378 | 19 | 6720675 | 6720675 | T | G | 19:g.6720675T>G | - | | |