C9 (complement C9) - Rat Genome Database

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Gene: C9 (complement C9) Homo sapiens
Analyze
Symbol: C9
Name: complement C9
RGD ID: 1320687
HGNC Page HGNC:1358
Description: Involved in cell killing and protein homooligomerization. Located in extracellular space and plasma membrane. Part of membrane attack complex. Implicated in age related macular degeneration 15; complement component 9 deficiency; and opiate dependence. Biomarker of autosomal dominant polycystic kidney disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ARMD15; C9D; complement component 9; complement component C9
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38539,284,140 - 39,364,495 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl539,284,140 - 39,371,324 (-)EnsemblGRCh38hg38GRCh38
GRCh37539,284,242 - 39,364,597 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36539,320,758 - 39,400,412 (-)NCBINCBI36Build 36hg18NCBI36
Build 34539,320,764 - 39,400,412NCBI
Celera539,170,963 - 39,251,580 (-)NCBICelera
Cytogenetic Map5p13.1NCBI
HuRef539,235,660 - 39,316,262 (-)NCBIHuRef
CHM1_1539,286,294 - 39,366,561 (-)NCBICHM1_1
T2T-CHM13v2.0539,533,654 - 39,614,008 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1-naphthyl isothiocyanate  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2-methoxyethanol  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (EXP,ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
Benzo[ghi]perylene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bosentan  (EXP)
bromobenzene  (ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
ciprofibrate  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
cyclosporin A  (EXP)
cylindrospermopsin  (ISO)
dichloroacetic acid  (ISO)
dimethylarsinic acid  (EXP)
disodium selenite  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
fenofibrate  (ISO)
flutamide  (ISO)
fulvestrant  (EXP)
furan  (ISO)
glafenine  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
inulin  (ISO)
isoprenaline  (ISO)
lead diacetate  (ISO)
methapyrilene  (EXP,ISO)
methotrexate  (ISO)
microcystin-LR  (ISO)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nefazodone  (ISO)
nickel atom  (EXP)
nickel dichloride  (ISO)
nimesulide  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (EXP)
olanzapine  (EXP)
paracetamol  (ISO)
parathion  (ISO)
pentane-2,3-dione  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (EXP,ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
tebuconazole  (EXP)
tetrachloromethane  (ISO)
Theaflavin 3,3'-digallate  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Excessive activation of the alternative complement pathway in autosomal dominant polycystic kidney disease. Su Z, etal., J Intern Med. 2014 Feb 4. doi: 10.1111/joim.12214.
8. Substance dependence low-density whole genome association study in two distinct American populations. Yu Y, etal., Hum Genet. 2008 Jun;123(5):495-506. doi: 10.1007/s00439-008-0501-0. Epub 2008 Apr 26.
Additional References at PubMed
PMID:1377690   PMID:1672663   PMID:2395434   PMID:2426252   PMID:2744767   PMID:3219351   PMID:3624872   PMID:4018030   PMID:4063341   PMID:6095282   PMID:7523406   PMID:8345200  
PMID:8471847   PMID:8603752   PMID:8630395   PMID:9144525   PMID:9570574   PMID:9634479   PMID:9703418   PMID:10551839   PMID:11027207   PMID:11359403   PMID:11881818   PMID:12463754  
PMID:12477932   PMID:12596049   PMID:14760718   PMID:15489334   PMID:16263699   PMID:16335952   PMID:16344560   PMID:16618117   PMID:16712791   PMID:16844690   PMID:17482181   PMID:17644516  
PMID:18029348   PMID:18842294   PMID:19056867   PMID:19162005   PMID:19344414   PMID:19423540   PMID:19739077   PMID:19864026   PMID:19913121   PMID:20139276   PMID:20153530   PMID:20237496  
PMID:20383146   PMID:20406964   PMID:20438785   PMID:20628086   PMID:21057849   PMID:21380615   PMID:21507937   PMID:21840429   PMID:21873635   PMID:22190594   PMID:22516433   PMID:22528500  
PMID:22832194   PMID:23241634   PMID:23376485   PMID:23487461   PMID:23533145   PMID:23750785   PMID:23943762   PMID:24719326   PMID:25735751   PMID:26404905   PMID:26767664   PMID:26841934  
PMID:28514442   PMID:29767720   PMID:30090015   PMID:30111885   PMID:30552328   PMID:32814053   PMID:33001583   PMID:33022573   PMID:33783477   PMID:33881585   PMID:33961781   PMID:36376872  
PMID:36526897  


Genomics

Comparative Map Data
C9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38539,284,140 - 39,364,495 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl539,284,140 - 39,371,324 (-)EnsemblGRCh38hg38GRCh38
GRCh37539,284,242 - 39,364,597 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36539,320,758 - 39,400,412 (-)NCBINCBI36Build 36hg18NCBI36
Build 34539,320,764 - 39,400,412NCBI
Celera539,170,963 - 39,251,580 (-)NCBICelera
Cytogenetic Map5p13.1NCBI
HuRef539,235,660 - 39,316,262 (-)NCBIHuRef
CHM1_1539,286,294 - 39,366,561 (-)NCBICHM1_1
T2T-CHM13v2.0539,533,654 - 39,614,008 (-)NCBIT2T-CHM13v2.0
C9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39156,474,827 - 6,528,306 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl156,474,808 - 6,528,232 (+)EnsemblGRCm39 Ensembl
GRCm38156,445,346 - 6,498,825 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl156,445,327 - 6,498,751 (+)EnsemblGRCm38mm10GRCm38
MGSCv37156,395,333 - 6,448,476 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36156,392,548 - 6,445,691 (+)NCBIMGSCv36mm8
Celera156,294,488 - 6,347,559 (+)NCBICelera
Cytogenetic Map15A1NCBI
cM Map152.79NCBI
C9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8257,300,510 - 57,348,759 (+)NCBIGRCr8
mRatBN7.2255,573,094 - 55,621,345 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl255,572,992 - 55,621,338 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx262,673,026 - 62,721,273 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0260,746,574 - 60,794,844 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0255,749,037 - 55,797,274 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0255,775,562 - 55,823,807 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl255,775,274 - 55,823,826 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0275,517,644 - 75,565,566 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4255,743,084 - 55,791,148 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1255,671,316 - 55,719,381 (+)NCBI
Celera251,194,591 - 51,242,839 (+)NCBICelera
Cytogenetic Map2q16NCBI
C9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495542623,790,792 - 23,824,117 (-)NCBIChiLan1.0ChiLan1.0
C9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2470,971,579 - 71,054,978 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1569,128,522 - 69,208,611 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0571,011,961 - 71,090,243 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1576,051,911 - 76,130,725 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl576,051,911 - 76,130,725 (+)Ensemblpanpan1.1panPan2
C9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1469,660,861 - 69,719,793 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl469,660,907 - 69,719,562 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha469,337,298 - 69,397,077 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0470,176,511 - 70,236,336 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl470,176,550 - 70,235,863 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1469,925,818 - 69,985,575 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0470,038,157 - 70,097,881 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0470,577,290 - 70,637,100 (+)NCBIUU_Cfam_GSD_1.0
C9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213228,373,978 - 228,423,999 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365182,958,995 - 2,994,880 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365182,947,956 - 2,994,892 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1624,520,634 - 24,590,338 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11624,521,318 - 24,575,939 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21625,800,236 - 25,823,336 (-)NCBISscrofa10.2Sscrofa10.2susScr3
C9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1438,082,751 - 38,165,886 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl438,082,457 - 38,164,164 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607128,458,276 - 28,543,866 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
C9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475915,534,660 - 15,624,381 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475915,534,743 - 15,623,767 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C9
306 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001737.5(C9):c.1583G>A (p.Cys528Tyr) single nucleotide variant Complement component 9 deficiency [RCV000022507] Chr5:39288785 [GRCh38]
Chr5:39288887 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.346C>T (p.Arg116Ter) single nucleotide variant Complement component 9 deficiency [RCV000018568]|not provided [RCV001851916] Chr5:39341276 [GRCh38]
Chr5:39341378 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.162C>A (p.Cys54Ter) single nucleotide variant C9-related disorder [RCV004742228]|Complement component 9 deficiency [RCV000018569]|Complement component 9 deficiency [RCV002496403]|not provided [RCV000440397] Chr5:39342112 [GRCh38]
Chr5:39342214 [GRCh37]
Chr5:5p13.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001737.5(C9):c.355T>G (p.Cys119Gly) single nucleotide variant Complement component 9 deficiency [RCV000018570]|Complement component 9 deficiency [RCV001281036]|not provided [RCV001305139] Chr5:39341267 [GRCh38]
Chr5:39341369 [GRCh37]
Chr5:5p13.1		 pathogenic|likely pathogenic|uncertain significance
NM_001737.5(C9):c.1280C>G (p.Ser427Ter) single nucleotide variant Complement component 9 deficiency [RCV000018571]|not provided [RCV001390774] Chr5:39306753 [GRCh38]
Chr5:39306855 [GRCh37]
Chr5:5p13.1		 pathogenic
NC_000005.10:g.39331792G>A single nucleotide variant Age related macular degeneration 15 [RCV000077786]|not provided [RCV001438538] Chr5:39331792 [GRCh38]
Chr5:39331894 [GRCh37]
Chr5:5p13.1		 risk factor|likely benign
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1		 pathogenic
GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3 copy number gain See cases [RCV000051835] Chr5:35700480..45260029 [GRCh38]
Chr5:35700582..45260131 [GRCh37]
Chr5:35736339..45295888 [NCBI36]
Chr5:5p13.2-12		 pathogenic
GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3 copy number gain See cases [RCV000051836] Chr5:36374107..51103841 [GRCh38]
Chr5:36374209..50399675 [GRCh37]
Chr5:36409966..50435432 [NCBI36]
Chr5:5p13.2-q11.1		 pathogenic
GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3 copy number gain See cases [RCV000051837] Chr5:37016043..39383281 [GRCh38]
Chr5:37016145..39383383 [GRCh37]
Chr5:37051902..39419140 [NCBI36]
Chr5:5p13.2-13.1		 pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12		 pathogenic
NM_001737.5(C9):c.418C>T (p.Pro140Ser) single nucleotide variant not provided [RCV002026511] Chr5:39341204 [GRCh38]
Chr5:39341306 [GRCh37]
Chr5:39377063 [NCBI36]
Chr5:5p13.1		 uncertain significance|not provided
NM_001737.3(C9):c.295G>A (p.Asp99Asn) single nucleotide variant Malignant melanoma [RCV000066923] Chr5:39341589 [GRCh38]
Chr5:39341691 [GRCh37]
Chr5:39377448 [NCBI36]
Chr5:5p13.1		 not provided
NM_001737.5(C9):c.225G>A (p.Gly75=) single nucleotide variant not provided [RCV002182443] Chr5:39341659 [GRCh38]
Chr5:39341761 [GRCh37]
Chr5:39377518 [NCBI36]
Chr5:5p13.1		 likely benign|not provided
C9, ARG133TER variation Complement component 9 deficiency [RCV000171125] Chr5:5p13.1 pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11		 pathogenic
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12		 pathogenic
NM_001737.5(C9):c.577del (p.Tyr193fs) deletion Complement component 9 deficiency [RCV000454339]|not provided [RCV003766471] Chr5:39331714 [GRCh38]
Chr5:39331816 [GRCh37]
Chr5:5p13.1		 pathogenic|likely pathogenic
GRCh37/hg19 5p13.2-13.1(chr5:37298599-39311411)x3 copy number gain See cases [RCV000447631] Chr5:37298599..39311411 [GRCh37]
Chr5:5p13.2-13.1		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_001737.5(C9):c.78-10G>A single nucleotide variant not provided [RCV001522168]|not specified [RCV000455094] Chr5:39342206 [GRCh38]
Chr5:39342308 [GRCh37]
Chr5:5p13.1		 benign
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11		 likely pathogenic
NM_001737.5(C9):c.13C>T (p.Arg5Trp) single nucleotide variant not provided [RCV001522169]|not specified [RCV000455736] Chr5:39364452 [GRCh38]
Chr5:39364452..39364453 [GRCh38]
Chr5:39364554 [GRCh37]
Chr5:39364554..39364555 [GRCh37]
Chr5:5p13.1		 benign
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_001737.5(C9):c.379G>T (p.Asp127Tyr) single nucleotide variant not provided [RCV000515077] Chr5:39341243 [GRCh38]
Chr5:39341243..39341244 [GRCh38]
Chr5:39341345 [GRCh37]
Chr5:39341345..39341346 [GRCh37]
Chr5:5p13.1		 benign|likely benign
NM_001737.5(C9):c.568C>G (p.Leu190Val) single nucleotide variant Inborn genetic diseases [RCV003261548] Chr5:39331723 [GRCh38]
Chr5:39331825 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.133A>T (p.Met45Leu) single nucleotide variant C9-related disorder [RCV003928038]|Complement component 9 deficiency [RCV000624970]|not provided [RCV000890354] Chr5:39342141 [GRCh38]
Chr5:39342243 [GRCh37]
Chr5:5p13.1		 likely benign
Single allele deletion not provided [RCV000677930] Chr5:39250414..40714234 [GRCh38]
Chr5:39250513..40714333 [GRCh37]
Chr5:5p13.1		 uncertain significance
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p13.3-12(chr5:31351588-43480111)x3 copy number gain not provided [RCV000744593] Chr5:31351588..43480111 [GRCh37]
Chr5:5p13.3-12		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_001737.5(C9):c.1677del (p.Lys559fs) deletion Complement component 9 deficiency [RCV001029996]|Complement component 9 deficiency [RCV002481844]|not provided [RCV002552035] Chr5:39285202 [GRCh38]
Chr5:39285304 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1360G>A (p.Asp454Asn) single nucleotide variant not provided [RCV000998375] Chr5:39306673 [GRCh38]
Chr5:39306775 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.836C>G (p.Thr279Ser) single nucleotide variant C9-related disorder [RCV003940469]|not provided [RCV000883177] Chr5:39315809 [GRCh38]
Chr5:39315911 [GRCh37]
Chr5:5p13.1		 benign
NM_001737.5(C9):c.1279T>A (p.Ser427Thr) single nucleotide variant not provided [RCV000883760] Chr5:39306754 [GRCh38]
Chr5:39306856 [GRCh37]
Chr5:5p13.1		 benign
NM_001737.5(C9):c.387A>C (p.Ser129=) single nucleotide variant C9-related disorder [RCV003915988]|not provided [RCV000958940] Chr5:39341235 [GRCh38]
Chr5:39341337 [GRCh37]
Chr5:5p13.1		 benign
NM_001737.5(C9):c.238G>A (p.Asp80Asn) single nucleotide variant not provided [RCV000969491] Chr5:39341646 [GRCh38]
Chr5:39341748 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.624C>A (p.Gly208=) single nucleotide variant not provided [RCV000882919] Chr5:39316021 [GRCh38]
Chr5:39316123 [GRCh37]
Chr5:5p13.1		 benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_001737.5(C9):c.1065C>G (p.Leu355=) single nucleotide variant not provided [RCV000966943] Chr5:39311183 [GRCh38]
Chr5:39311285 [GRCh37]
Chr5:5p13.1		 benign
NM_001737.5(C9):c.812G>A (p.Arg271Gln) single nucleotide variant not provided [RCV000998376] Chr5:39315833 [GRCh38]
Chr5:39315935 [GRCh37]
Chr5:5p13.1		 uncertain significance
GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3 copy number gain not provided [RCV000848003] Chr5:34453883..46389339 [GRCh37]
Chr5:5p13.2-11		 pathogenic
NC_000005.9:g.(?_33944753)_(39364566_?)dup duplication not provided [RCV003107632] Chr5:33944753..39364566 [GRCh37]
Chr5:5p13.2-13.1		 uncertain significance
NC_000005.9:g.(?_39306699)_(39311499_?)del deletion not provided [RCV003107457] Chr5:39306699..39311499 [GRCh37]
Chr5:5p13.1		 uncertain significance
GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3 copy number gain musculoskeletal system issues [RCV002284293] Chr5:36053583..46389339 [GRCh37]
Chr5:5p13.2-11		 pathogenic
NM_001737.5(C9):c.1345G>A (p.Val449Met) single nucleotide variant C9-related disorder [RCV003968493]|not provided [RCV001703278] Chr5:39306688 [GRCh38]
Chr5:39306790 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001737.5(C9):c.534T>C (p.Asn178=) single nucleotide variant not provided [RCV000955169] Chr5:39331757 [GRCh38]
Chr5:39331859 [GRCh37]
Chr5:5p13.1		 benign
NM_001737.5(C9):c.786T>A (p.Ile262=) single nucleotide variant not provided [RCV000900371] Chr5:39315859 [GRCh38]
Chr5:39315961 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.347G>A (p.Arg116Gln) single nucleotide variant not provided [RCV003106635] Chr5:39341275 [GRCh38]
Chr5:39341377 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.162C>T (p.Cys54=) single nucleotide variant not provided [RCV001528951] Chr5:39342112 [GRCh38]
Chr5:39342214 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1336C>T (p.Arg446Ter) single nucleotide variant not provided [RCV001888988] Chr5:39306697 [GRCh38]
Chr5:39306799 [GRCh37]
Chr5:5p13.1		 pathogenic
GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3 copy number gain not provided [RCV001005674] Chr5:38432180..49441945 [GRCh37]
Chr5:5p13.1-q11.1		 pathogenic
NM_001737.5(C9):c.375C>A (p.Cys125Ter) single nucleotide variant Complement component 9 deficiency [RCV001267743]|not provided [RCV003660871] Chr5:39341247 [GRCh38]
Chr5:39341349 [GRCh37]
Chr5:5p13.1		 pathogenic
GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3 copy number gain not provided [RCV001537930] Chr5:34984696..46405042 [GRCh37]
Chr5:5p13.2-11		 pathogenic
NM_001737.5(C9):c.1038_1042delinsT (p.Ser347fs) indel Complement component 9 deficiency [RCV002499663]|not provided [RCV001381937] Chr5:39311206..39311210 [GRCh38]
Chr5:39311308..39311312 [GRCh37]
Chr5:5p13.1		 pathogenic|likely pathogenic
NM_001737.5(C9):c.409G>A (p.Glu137Lys) single nucleotide variant Complement component 9 deficiency [RCV001336398] Chr5:39341213 [GRCh38]
Chr5:39341315 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1042del (p.Ser348fs) deletion Complement component 9 deficiency [RCV001292725] Chr5:39311206 [GRCh38]
Chr5:39311308 [GRCh37]
Chr5:5p13.1		 pathogenic
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12		 pathogenic
NM_001737.5(C9):c.1627A>G (p.Lys543Glu) single nucleotide variant Inborn genetic diseases [RCV002548533]|not provided [RCV001359114] Chr5:39288741 [GRCh38]
Chr5:39288843 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.352C>T (p.Arg118Trp) single nucleotide variant not provided [RCV001343745] Chr5:39341270 [GRCh38]
Chr5:39341372 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.721del (p.Ser240_Leu241insTer) deletion not provided [RCV001384729] Chr5:39315924 [GRCh38]
Chr5:39316026 [GRCh37]
Chr5:5p13.1		 pathogenic|likely pathogenic
NM_001737.5(C9):c.1427T>C (p.Ile476Thr) single nucleotide variant not provided [RCV001343006] Chr5:39288941 [GRCh38]
Chr5:39289043 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001737.5(C9):c.460C>T (p.Arg154Ter) single nucleotide variant Complement component 9 deficiency [RCV001732129]|not provided [RCV001386844] Chr5:39341162 [GRCh38]
Chr5:39341264 [GRCh37]
Chr5:5p13.1		 pathogenic|likely pathogenic
NM_001737.5(C9):c.701del (p.Asn234fs) deletion Complement component 9 deficiency [RCV001330834] Chr5:39315944 [GRCh38]
Chr5:39316046 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.376G>A (p.Gly126Arg) single nucleotide variant Complement component 9 deficiency [RCV003992511]|not provided [RCV001371653] Chr5:39341246 [GRCh38]
Chr5:39341348 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.697_698insTTTTATG (p.Ser233fs) insertion Complement component 9 deficiency [RCV001330833] Chr5:39315947..39315948 [GRCh38]
Chr5:39316049..39316050 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.615+12C>T single nucleotide variant not provided [RCV001520423] Chr5:39331664 [GRCh38]
Chr5:39331766 [GRCh37]
Chr5:5p13.1		 benign
NM_001737.5(C9):c.636C>T (p.Phe212=) single nucleotide variant C9-related disorder [RCV003940966]|not provided [RCV001522167] Chr5:39316009 [GRCh38]
Chr5:39316111 [GRCh37]
Chr5:5p13.1		 benign
NM_001737.5(C9):c.237C>T (p.Thr79=) single nucleotide variant not provided [RCV001481855] Chr5:39341647 [GRCh38]
Chr5:39341749 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.787del (p.Ser263fs) deletion not provided [RCV001387929] Chr5:39315858 [GRCh38]
Chr5:39315960 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.1645+14A>G single nucleotide variant not provided [RCV001512788] Chr5:39288709 [GRCh38]
Chr5:39288811 [GRCh37]
Chr5:5p13.1		 benign
NM_001737.5(C9):c.1401T>G (p.Val467=) single nucleotide variant C9-related disorder [RCV003948547]|not provided [RCV001520232] Chr5:39306632 [GRCh38]
Chr5:39306734 [GRCh37]
Chr5:5p13.1		 benign
NM_001737.5(C9):c.607A>G (p.Ile203Val) single nucleotide variant not provided [RCV001516777] Chr5:39331684 [GRCh38]
Chr5:39331786 [GRCh37]
Chr5:5p13.1		 benign
NM_001737.5(C9):c.1014T>A (p.Phe338Leu) single nucleotide variant C9-related disorder [RCV003956015]|not provided [RCV001463055] Chr5:39311234 [GRCh38]
Chr5:39311336 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1646-3T>C single nucleotide variant C9-related disorder [RCV003940917]|not provided [RCV001514384] Chr5:39285236 [GRCh38]
Chr5:39285338 [GRCh37]
Chr5:5p13.1		 benign
NM_001737.5(C9):c.77+16T>C single nucleotide variant not provided [RCV001511687] Chr5:39364372 [GRCh38]
Chr5:39364474 [GRCh37]
Chr5:5p13.1		 benign
NM_001737.5(C9):c.974C>T (p.Ala325Val) single nucleotide variant Complement component 9 deficiency [RCV002503179]|not provided [RCV001725907] Chr5:39311274 [GRCh38]
Chr5:39311376 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001737.5(C9):c.580C>T (p.Arg194Ter) single nucleotide variant Complement component 9 deficiency [RCV001780705]|not provided [RCV002544258] Chr5:39331711 [GRCh38]
Chr5:39331813 [GRCh37]
Chr5:5p13.1		 pathogenic|likely pathogenic
NM_001737.5(C9):c.1209_1222del (p.Asp403fs) deletion not provided [RCV002034579] Chr5:39308248..39308261 [GRCh38]
Chr5:39308350..39308363 [GRCh37]
Chr5:5p13.1		 pathogenic|likely pathogenic
NM_001737.5(C9):c.155C>T (p.Ser52Leu) single nucleotide variant not provided [RCV001889365] Chr5:39342119 [GRCh38]
Chr5:39342221 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.304G>A (p.Gly102Arg) single nucleotide variant not provided [RCV001988586] Chr5:39341580 [GRCh38]
Chr5:39341682 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.746A>G (p.Asn249Ser) single nucleotide variant not provided [RCV001983093] Chr5:39315899 [GRCh38]
Chr5:39316001 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1073dup (p.Ile359fs) duplication not provided [RCV001874320] Chr5:39311174..39311175 [GRCh38]
Chr5:39311276..39311277 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.1670A>G (p.Asn557Ser) single nucleotide variant not provided [RCV001872902] Chr5:39285209 [GRCh38]
Chr5:39285311 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.934G>A (p.Asp312Asn) single nucleotide variant not provided [RCV001914865] Chr5:39311314 [GRCh38]
Chr5:39311416 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.223G>A (p.Gly75Arg) single nucleotide variant not provided [RCV001895946] Chr5:39341661 [GRCh38]
Chr5:39341763 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.595G>C (p.Val199Leu) single nucleotide variant Inborn genetic diseases [RCV004041313]|not provided [RCV001895785] Chr5:39331696 [GRCh38]
Chr5:39331798 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.803del (p.Gly268fs) deletion not provided [RCV001864647] Chr5:39315842 [GRCh38]
Chr5:39315944 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.1241-7T>A single nucleotide variant C9-related disorder [RCV003941216]|not provided [RCV001984587] Chr5:39306799 [GRCh38]
Chr5:39306901 [GRCh37]
Chr5:5p13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001737.5(C9):c.461G>A (p.Arg154Gln) single nucleotide variant Inborn genetic diseases [RCV003269108]|not provided [RCV002043445] Chr5:39341161 [GRCh38]
Chr5:39341263 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1492A>G (p.Ile498Val) single nucleotide variant not provided [RCV001895949] Chr5:39288876 [GRCh38]
Chr5:39288978 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1490C>T (p.Ala497Val) single nucleotide variant not provided [RCV002009183] Chr5:39288878 [GRCh38]
Chr5:39288980 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1321A>T (p.Lys441Ter) single nucleotide variant not provided [RCV002021921] Chr5:39306712 [GRCh38]
Chr5:39306814 [GRCh37]
Chr5:5p13.1		 pathogenic
GRCh37/hg19 5p14.1-11(chr5:26382110-46389339) copy number gain not specified [RCV002053485] Chr5:26382110..46389339 [GRCh37]
Chr5:5p14.1-11		 pathogenic
NM_001737.5(C9):c.1511A>T (p.Glu504Val) single nucleotide variant not provided [RCV002042329] Chr5:39288857 [GRCh38]
Chr5:39288959 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1645+5G>A single nucleotide variant not provided [RCV001965114] Chr5:39288718 [GRCh38]
Chr5:39288820 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.898G>T (p.Glu300Ter) single nucleotide variant not provided [RCV001947040] Chr5:39311350 [GRCh38]
Chr5:39311452 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.1094C>T (p.Ala365Val) single nucleotide variant not provided [RCV001984347] Chr5:39311154 [GRCh38]
Chr5:39311256 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.841C>G (p.Gln281Glu) single nucleotide variant not provided [RCV001892300] Chr5:39315804 [GRCh38]
Chr5:39315906 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1465dup (p.Leu489fs) duplication not provided [RCV001909647] Chr5:39288902..39288903 [GRCh38]
Chr5:39289004..39289005 [GRCh37]
Chr5:5p13.1		 pathogenic|conflicting interpretations of pathogenicity
NM_001737.5(C9):c.286G>T (p.Asp96Tyr) single nucleotide variant not provided [RCV002040357] Chr5:39341598 [GRCh38]
Chr5:39341700 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1052C>T (p.Ser351Phe) single nucleotide variant not provided [RCV002022052] Chr5:39311196 [GRCh38]
Chr5:39311298 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.241G>A (p.Ala81Thr) single nucleotide variant not provided [RCV001913378] Chr5:39341643 [GRCh38]
Chr5:39341745 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.407G>A (p.Ser136Asn) single nucleotide variant not provided [RCV001928573] Chr5:39341215 [GRCh38]
Chr5:39341317 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.415C>T (p.Arg139Cys) single nucleotide variant not provided [RCV001967879] Chr5:39341207 [GRCh38]
Chr5:39341309 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.421C>A (p.Pro141Thr) single nucleotide variant C9-related disorder [RCV003976240]|not provided [RCV001907301] Chr5:39341201 [GRCh38]
Chr5:39341303 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001737.5(C9):c.1184_1185del (p.Ser395fs) microsatellite C9-related disorder [RCV003408011]|Complement component 9 deficiency [RCV002484798]|not provided [RCV001942174] Chr5:39308285..39308286 [GRCh38]
Chr5:39308387..39308388 [GRCh37]
Chr5:5p13.1		 pathogenic|likely pathogenic
NM_001737.5(C9):c.1201A>G (p.Asn401Asp) single nucleotide variant not provided [RCV002010384] Chr5:39308269 [GRCh38]
Chr5:39308371 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.871-2A>G single nucleotide variant not provided [RCV002000888] Chr5:39311379 [GRCh38]
Chr5:39311481 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001737.5(C9):c.1106G>A (p.Arg369Gln) single nucleotide variant Inborn genetic diseases [RCV002548787]|not provided [RCV002018515] Chr5:39311142 [GRCh38]
Chr5:39311244 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.621A>C (p.Lys207Asn) single nucleotide variant not provided [RCV002020318] Chr5:39316024 [GRCh38]
Chr5:39316126 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1419del (p.Ser474fs) deletion not provided [RCV002037792] Chr5:39288949 [GRCh38]
Chr5:39289051 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.467C>A (p.Ala156Glu) single nucleotide variant not provided [RCV001938028] Chr5:39341155 [GRCh38]
Chr5:39341257 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1204A>G (p.Lys402Glu) single nucleotide variant not provided [RCV001942503] Chr5:39308266 [GRCh38]
Chr5:39308368 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1228G>C (p.Glu410Gln) single nucleotide variant not provided [RCV002001397] Chr5:39308242 [GRCh38]
Chr5:39308344 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1379C>A (p.Ser460Tyr) single nucleotide variant not provided [RCV002037445] Chr5:39306654 [GRCh38]
Chr5:39306756 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.850T>A (p.Leu284Met) single nucleotide variant Inborn genetic diseases [RCV002554238]|not provided [RCV001920077] Chr5:39315795 [GRCh38]
Chr5:39315897 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.104G>A (p.Ser35Asn) single nucleotide variant not provided [RCV001930938] Chr5:39342170 [GRCh38]
Chr5:39342272 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.554G>C (p.Arg185Pro) single nucleotide variant not provided [RCV002049262] Chr5:39331737 [GRCh38]
Chr5:39331839 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.187C>T (p.Arg63Cys) single nucleotide variant not provided [RCV002014434] Chr5:39341697 [GRCh38]
Chr5:39341799 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1114G>T (p.Val372Phe) single nucleotide variant not provided [RCV002050001] Chr5:39308356 [GRCh38]
Chr5:39308458 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1039_1042del (p.Ser347fs) deletion Complement component 9 deficiency [RCV002077349]|not provided [RCV001953807] Chr5:39311206..39311209 [GRCh38]
Chr5:39311308..39311311 [GRCh37]
Chr5:5p13.1		 pathogenic|likely pathogenic
NM_001737.5(C9):c.1268ATG[1] (p.Asp424del) microsatellite not provided [RCV002012431] Chr5:39306760..39306762 [GRCh38]
Chr5:39306862..39306864 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.622G>A (p.Gly208Ser) single nucleotide variant not provided [RCV002046394] Chr5:39316023 [GRCh38]
Chr5:39316125 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1163C>A (p.Ser388Tyr) single nucleotide variant not provided [RCV001879725] Chr5:39308307 [GRCh38]
Chr5:39308409 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.595G>A (p.Val199Met) single nucleotide variant not provided [RCV001878640] Chr5:39331696 [GRCh38]
Chr5:39331798 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.656A>G (p.Glu219Gly) single nucleotide variant not provided [RCV001903606] Chr5:39315989 [GRCh38]
Chr5:39316091 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.161G>A (p.Cys54Tyr) single nucleotide variant not provided [RCV001995556] Chr5:39342113 [GRCh38]
Chr5:39342215 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.488T>G (p.Leu163Ter) single nucleotide variant not provided [RCV002049601] Chr5:39331803 [GRCh38]
Chr5:39331905 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.341A>C (p.Lys114Thr) single nucleotide variant not provided [RCV001998881] Chr5:39341281 [GRCh38]
Chr5:39341383 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.362G>C (p.Gly121Ala) single nucleotide variant not provided [RCV002051095] Chr5:39341260 [GRCh38]
Chr5:39341362 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.37A>G (p.Ile13Val) single nucleotide variant not provided [RCV001977058] Chr5:39364428 [GRCh38]
Chr5:39364530 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.758A>G (p.Gln253Arg) single nucleotide variant not provided [RCV001924045] Chr5:39315887 [GRCh38]
Chr5:39315989 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.422C>A (p.Pro141His) single nucleotide variant not provided [RCV001925280] Chr5:39341200 [GRCh38]
Chr5:39341302 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.546C>A (p.Asn182Lys) single nucleotide variant not provided [RCV001879257] Chr5:39331745 [GRCh38]
Chr5:39331847 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.263G>A (p.Cys88Tyr) single nucleotide variant not provided [RCV001922781] Chr5:39341621 [GRCh38]
Chr5:39341723 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.57_59del (p.Thr20del) deletion not provided [RCV001998472] Chr5:39364406..39364408 [GRCh38]
Chr5:39364508..39364510 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.185T>C (p.Phe62Ser) single nucleotide variant not provided [RCV001973329] Chr5:39341699 [GRCh38]
Chr5:39341801 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.269C>T (p.Pro90Leu) single nucleotide variant not provided [RCV001960056] Chr5:39341615 [GRCh38]
Chr5:39341717 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.56T>G (p.Leu19Arg) single nucleotide variant not provided [RCV001938811] Chr5:39364409 [GRCh38]
Chr5:39364511 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1035C>A (p.His345Gln) single nucleotide variant not provided [RCV002018082] Chr5:39311213 [GRCh38]
Chr5:39311315 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1213T>C (p.Cys405Arg) single nucleotide variant not provided [RCV001954099] Chr5:39308257 [GRCh38]
Chr5:39308359 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.628A>G (p.Lys210Glu) single nucleotide variant Inborn genetic diseases [RCV004603086]|not provided [RCV001938933] Chr5:39316017 [GRCh38]
Chr5:39316119 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.646C>T (p.His216Tyr) single nucleotide variant not provided [RCV002010128] Chr5:39315999 [GRCh38]
Chr5:39316101 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.58A>C (p.Thr20Pro) single nucleotide variant not provided [RCV001918370] Chr5:39364407 [GRCh38]
Chr5:39364509 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1105C>T (p.Arg369Trp) single nucleotide variant not provided [RCV001935548] Chr5:39311143 [GRCh38]
Chr5:39311245 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.470G>T (p.Gly157Val) single nucleotide variant Inborn genetic diseases [RCV002560386]|not provided [RCV001938316] Chr5:39341152 [GRCh38]
Chr5:39341254 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.932G>A (p.Arg311His) single nucleotide variant not provided [RCV001980067] Chr5:39311316 [GRCh38]
Chr5:39311418 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.473A>C (p.Tyr158Ser) single nucleotide variant not provided [RCV001997220] Chr5:39341149 [GRCh38]
Chr5:39341251 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.78-4T>A single nucleotide variant not provided [RCV001906996] Chr5:39342200 [GRCh38]
Chr5:39342302 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001737.5(C9):c.1513T>C (p.Phe505Leu) single nucleotide variant not provided [RCV001960139] Chr5:39288855 [GRCh38]
Chr5:39288957 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1424C>T (p.Pro475Leu) single nucleotide variant not provided [RCV001940417] Chr5:39288944 [GRCh38]
Chr5:39289046 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.14G>A (p.Arg5Gln) single nucleotide variant Inborn genetic diseases [RCV002569208]|not provided [RCV001961238] Chr5:39364451 [GRCh38]
Chr5:39364553 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001737.5(C9):c.250G>A (p.Asp84Asn) single nucleotide variant not provided [RCV001919621] Chr5:39341634 [GRCh38]
Chr5:39341736 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.367A>G (p.Asn123Asp) single nucleotide variant not provided [RCV002028329] Chr5:39341255 [GRCh38]
Chr5:39341357 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.262T>A (p.Cys88Ser) single nucleotide variant not provided [RCV002027632] Chr5:39341622 [GRCh38]
Chr5:39341724 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.417T>C (p.Arg139=) single nucleotide variant not provided [RCV002164908] Chr5:39341205 [GRCh38]
Chr5:39341307 [GRCh37]
Chr5:5p13.1		 benign
NM_001737.5(C9):c.329-14G>A single nucleotide variant not provided [RCV002125420] Chr5:39341307 [GRCh38]
Chr5:39341409 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1451T>A (p.Met484Lys) single nucleotide variant Complement component 9 deficiency [RCV002170589]|not provided [RCV002170588] Chr5:39288917 [GRCh38]
Chr5:39289019 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001737.5(C9):c.363T>C (p.Gly121=) single nucleotide variant not provided [RCV002107501] Chr5:39341259 [GRCh38]
Chr5:39341361 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.547C>T (p.Arg183Trp) single nucleotide variant not provided [RCV002191291] Chr5:39331744 [GRCh38]
Chr5:39331846 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1645+18G>T single nucleotide variant not provided [RCV002089518] Chr5:39288705 [GRCh38]
Chr5:39288807 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1344C>G (p.Thr448=) single nucleotide variant not provided [RCV002170526] Chr5:39306689 [GRCh38]
Chr5:39306791 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.303C>T (p.Cys101=) single nucleotide variant not provided [RCV002130138] Chr5:39341581 [GRCh38]
Chr5:39341683 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1585G>A (p.Ala529Thr) single nucleotide variant Complement component 9 deficiency [RCV003224612]|not provided [RCV002097284] Chr5:39288783 [GRCh38]
Chr5:39288885 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
NM_001737.5(C9):c.184-14C>A single nucleotide variant not provided [RCV002194094] Chr5:39341714 [GRCh38]
Chr5:39341816 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.291T>C (p.Ala97=) single nucleotide variant not provided [RCV002114123] Chr5:39341593 [GRCh38]
Chr5:39341695 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.906T>C (p.His302=) single nucleotide variant not provided [RCV002110926] Chr5:39311342 [GRCh38]
Chr5:39311444 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1417-7C>A single nucleotide variant not provided [RCV002088046] Chr5:39288958 [GRCh38]
Chr5:39289060 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1536A>T (p.Thr512=) single nucleotide variant not provided [RCV002212522] Chr5:39288832 [GRCh38]
Chr5:39288934 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1284C>A (p.Leu428=) single nucleotide variant not provided [RCV002113397] Chr5:39306749 [GRCh38]
Chr5:39306851 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1015T>C (p.Leu339=) single nucleotide variant not provided [RCV002117082] Chr5:39311233 [GRCh38]
Chr5:39311335 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.540C>G (p.Leu180=) single nucleotide variant not provided [RCV002078946] Chr5:39331751 [GRCh38]
Chr5:39331853 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.546C>T (p.Asn182=) single nucleotide variant not provided [RCV002105872] Chr5:39331745 [GRCh38]
Chr5:39331847 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.476+15T>C single nucleotide variant not provided [RCV002151657] Chr5:39341131 [GRCh38]
Chr5:39341233 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.90G>A (p.Glu30=) single nucleotide variant not provided [RCV002074589] Chr5:39342184 [GRCh38]
Chr5:39342286 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1645+16T>G single nucleotide variant not provided [RCV002130719] Chr5:39288707 [GRCh38]
Chr5:39288809 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.835A>G (p.Thr279Ala) single nucleotide variant not provided [RCV002114090] Chr5:39315810 [GRCh38]
Chr5:39315912 [GRCh37]
Chr5:5p13.1		 benign
NM_001737.5(C9):c.1053T>C (p.Ser351=) single nucleotide variant not provided [RCV002132676] Chr5:39311195 [GRCh38]
Chr5:39311297 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.642C>T (p.Thr214=) single nucleotide variant not provided [RCV002172565] Chr5:39316003 [GRCh38]
Chr5:39316105 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.624C>T (p.Gly208=) single nucleotide variant C9-related disorder [RCV004744325]|not provided [RCV002193892] Chr5:39316021 [GRCh38]
Chr5:39316123 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1241-12T>C single nucleotide variant not provided [RCV002173836] Chr5:39306804 [GRCh38]
Chr5:39306906 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.375C>T (p.Cys125=) single nucleotide variant not provided [RCV002127041] Chr5:39341247 [GRCh38]
Chr5:39341349 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1329G>A (p.Lys443=) single nucleotide variant not provided [RCV002121075] Chr5:39306704 [GRCh38]
Chr5:39306806 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1038C>T (p.Tyr346=) single nucleotide variant not provided [RCV002099987] Chr5:39311210 [GRCh38]
Chr5:39311312 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.929A>G (p.Asn310Ser) single nucleotide variant not provided [RCV002175558] Chr5:39311319 [GRCh38]
Chr5:39311421 [GRCh37]
Chr5:5p13.1		 benign
NM_001737.5(C9):c.616-5T>C single nucleotide variant not provided [RCV002139314] Chr5:39316034 [GRCh38]
Chr5:39316136 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.652G>A (p.Glu218Lys) single nucleotide variant not provided [RCV002219378] Chr5:39315993 [GRCh38]
Chr5:39316095 [GRCh37]
Chr5:5p13.1		 benign
NM_001737.5(C9):c.489A>G (p.Leu163=) single nucleotide variant not provided [RCV002081318] Chr5:39331802 [GRCh38]
Chr5:39331904 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1146G>A (p.Gly382=) single nucleotide variant not provided [RCV002220930] Chr5:39308324 [GRCh38]
Chr5:39308426 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.476+19C>G single nucleotide variant not provided [RCV002143219] Chr5:39341127 [GRCh38]
Chr5:39341229 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.183+12T>C single nucleotide variant not provided [RCV002183430] Chr5:39342079 [GRCh38]
Chr5:39342181 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.69C>T (p.Tyr23=) single nucleotide variant not provided [RCV002163952] Chr5:39364396 [GRCh38]
Chr5:39364498 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.810T>C (p.Phe270=) single nucleotide variant not provided [RCV002102970] Chr5:39315835 [GRCh38]
Chr5:39315937 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1645+8C>A single nucleotide variant not provided [RCV002138716] Chr5:39288715 [GRCh38]
Chr5:39288817 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.78-18G>A single nucleotide variant not provided [RCV002119135] Chr5:39342214 [GRCh38]
Chr5:39342316 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.312C>T (p.Asp104=) single nucleotide variant not provided [RCV002099474] Chr5:39341572 [GRCh38]
Chr5:39341674 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.474T>C (p.Tyr158=) single nucleotide variant not provided [RCV002161141] Chr5:39341148 [GRCh38]
Chr5:39341250 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.773C>T (p.Thr258Ile) single nucleotide variant not provided [RCV002177974] Chr5:39315872 [GRCh38]
Chr5:39315974 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1111+13A>G single nucleotide variant not provided [RCV002199214] Chr5:39311124 [GRCh38]
Chr5:39311226 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.476+11dup duplication not provided [RCV002117512] Chr5:39341134..39341135 [GRCh38]
Chr5:39341236..39341237 [GRCh37]
Chr5:5p13.1		 benign
NM_001737.5(C9):c.477-6T>C single nucleotide variant not provided [RCV002220923] Chr5:39331820 [GRCh38]
Chr5:39331922 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1111+19C>T single nucleotide variant not provided [RCV002156753] Chr5:39311118 [GRCh38]
Chr5:39311220 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.615+13G>A single nucleotide variant not provided [RCV002138422] Chr5:39331663 [GRCh38]
Chr5:39331765 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.183+11A>C single nucleotide variant not provided [RCV002144550] Chr5:39342080 [GRCh38]
Chr5:39342182 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.188G>A (p.Arg63His) single nucleotide variant not provided [RCV003117324] Chr5:39341696 [GRCh38]
Chr5:39341798 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1591C>T (p.Pro531Ser) single nucleotide variant not provided [RCV003121982] Chr5:39288777 [GRCh38]
Chr5:39288879 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.123A>C (p.Ile41=) single nucleotide variant C9-related disorder [RCV003906652]|not provided [RCV003120041] Chr5:39342151 [GRCh38]
Chr5:39342253 [GRCh37]
Chr5:5p13.1		 likely benign|uncertain significance
GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3 copy number gain not provided [RCV002474514] Chr5:29348753..46389339 [GRCh37]
Chr5:5p13.3-11		 pathogenic
NM_001737.5(C9):c.312C>A (p.Asp104Glu) single nucleotide variant not provided [RCV003033629] Chr5:39341572 [GRCh38]
Chr5:39341674 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1319T>G (p.Leu440Arg) single nucleotide variant not provided [RCV002775125] Chr5:39306714 [GRCh38]
Chr5:39306816 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1477A>G (p.Asn493Asp) single nucleotide variant not provided [RCV002726176] Chr5:39288891 [GRCh38]
Chr5:39288993 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1428A>G (p.Ile476Met) single nucleotide variant Inborn genetic diseases [RCV004603286]|not provided [RCV003075037] Chr5:39288940 [GRCh38]
Chr5:39289042 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.508A>T (p.Thr170Ser) single nucleotide variant not provided [RCV002948045] Chr5:39331783 [GRCh38]
Chr5:39331885 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.319T>G (p.Cys107Gly) single nucleotide variant not provided [RCV002614610] Chr5:39341565 [GRCh38]
Chr5:39341667 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1462C>T (p.His488Tyr) single nucleotide variant not provided [RCV002734829] Chr5:39288906 [GRCh38]
Chr5:39289008 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.167C>T (p.Pro56Leu) single nucleotide variant not provided [RCV002636245] Chr5:39342107 [GRCh38]
Chr5:39342209 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.615+5G>A single nucleotide variant not provided [RCV002816174] Chr5:39331671 [GRCh38]
Chr5:39331773 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.319T>A (p.Cys107Ser) single nucleotide variant not provided [RCV002726722] Chr5:39341565 [GRCh38]
Chr5:39341667 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1505T>C (p.Ile502Thr) single nucleotide variant Inborn genetic diseases [RCV002776915] Chr5:39288863 [GRCh38]
Chr5:39288965 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.877del (p.Met293fs) deletion C9-related disorder [RCV003404097]|not provided [RCV002614995] Chr5:39311371 [GRCh38]
Chr5:39311473 [GRCh37]
Chr5:5p13.1		 pathogenic|likely pathogenic
NM_001737.5(C9):c.1629A>G (p.Lys543=) single nucleotide variant not provided [RCV002996005] Chr5:39288739 [GRCh38]
Chr5:39288841 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.506G>A (p.Ser169Asn) single nucleotide variant Inborn genetic diseases [RCV002773629] Chr5:39331785 [GRCh38]
Chr5:39331887 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.787T>G (p.Ser263Ala) single nucleotide variant not provided [RCV002995005] Chr5:39315858 [GRCh38]
Chr5:39315960 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1399G>T (p.Val467Phe) single nucleotide variant not provided [RCV002994814] Chr5:39306634 [GRCh38]
Chr5:39306736 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.423dup (p.Cys142fs) duplication not provided [RCV002613733] Chr5:39341198..39341199 [GRCh38]
Chr5:39341300..39341301 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.1273GTT[1] (p.Val426del) microsatellite not provided [RCV002815439] Chr5:39306755..39306757 [GRCh38]
Chr5:39306857..39306859 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.56T>C (p.Leu19Pro) single nucleotide variant not provided [RCV002928075] Chr5:39364409 [GRCh38]
Chr5:39364511 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1416+9C>T single nucleotide variant not provided [RCV002662893] Chr5:39306608 [GRCh38]
Chr5:39306710 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.46A>G (p.Ile16Val) single nucleotide variant not provided [RCV003054104] Chr5:39364419 [GRCh38]
Chr5:39364521 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.313T>G (p.Phe105Val) single nucleotide variant not provided [RCV003002952] Chr5:39341571 [GRCh38]
Chr5:39341673 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.477G>A (p.Gly159=) single nucleotide variant not provided [RCV002592999] Chr5:39331814 [GRCh38]
Chr5:39331916 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.76A>G (p.Ser26Gly) single nucleotide variant Inborn genetic diseases [RCV002822651] Chr5:39364389 [GRCh38]
Chr5:39364491 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.46del (p.Glu15_Ile16insTer) deletion not provided [RCV002621676] Chr5:39364419 [GRCh38]
Chr5:39364521 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.979C>T (p.Pro327Ser) single nucleotide variant not provided [RCV002619583] Chr5:39311269 [GRCh38]
Chr5:39311371 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.461G>C (p.Arg154Pro) single nucleotide variant not provided [RCV002785522] Chr5:39341161 [GRCh38]
Chr5:39341263 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1123A>C (p.Lys375Gln) single nucleotide variant not provided [RCV003054487] Chr5:39308347 [GRCh38]
Chr5:39308449 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.476+13C>T single nucleotide variant not provided [RCV002621209] Chr5:39341133 [GRCh38]
Chr5:39341235 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1285A>G (p.Ile429Val) single nucleotide variant not provided [RCV002850894] Chr5:39306748 [GRCh38]
Chr5:39306850 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1092A>C (p.Lys364Asn) single nucleotide variant not provided [RCV003056228] Chr5:39311156 [GRCh38]
Chr5:39311258 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.351T>G (p.Leu117=) single nucleotide variant not provided [RCV003007888] Chr5:39341271 [GRCh38]
Chr5:39341373 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1646-10T>C single nucleotide variant not provided [RCV002627024] Chr5:39285243 [GRCh38]
Chr5:39285345 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1150C>G (p.His384Asp) single nucleotide variant Inborn genetic diseases [RCV002955289] Chr5:39308320 [GRCh38]
Chr5:39308422 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.256C>T (p.Arg86Ter) single nucleotide variant not provided [RCV002914964] Chr5:39341628 [GRCh38]
Chr5:39341730 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.1659A>G (p.Leu553=) single nucleotide variant not provided [RCV002700254] Chr5:39285220 [GRCh38]
Chr5:39285322 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.415del (p.Arg139fs) deletion not provided [RCV002872426] Chr5:39341207 [GRCh38]
Chr5:39341309 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.140C>T (p.Pro47Leu) single nucleotide variant Inborn genetic diseases [RCV002763104] Chr5:39342134 [GRCh38]
Chr5:39342236 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.78-17A>G single nucleotide variant not provided [RCV002852178] Chr5:39342213 [GRCh38]
Chr5:39342315 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.285G>A (p.Glu95=) single nucleotide variant not provided [RCV002876224] Chr5:39341599 [GRCh38]
Chr5:39341701 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1416+4A>G single nucleotide variant not provided [RCV002851989] Chr5:39306613 [GRCh38]
Chr5:39306715 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.184-17C>A single nucleotide variant not provided [RCV003058155] Chr5:39341717 [GRCh38]
Chr5:39341819 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.702T>C (p.Asn234=) single nucleotide variant not provided [RCV002872151] Chr5:39315943 [GRCh38]
Chr5:39316045 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1394C>T (p.Ala465Val) single nucleotide variant not provided [RCV003056595] Chr5:39306639 [GRCh38]
Chr5:39306741 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1189G>T (p.Gly397Ter) single nucleotide variant not provided [RCV003042618] Chr5:39308281 [GRCh38]
Chr5:39308383 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.983C>A (p.Thr328Asn) single nucleotide variant Inborn genetic diseases [RCV003308320]|not provided [RCV002891218] Chr5:39311265 [GRCh38]
Chr5:39311367 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.257G>A (p.Arg86Gln) single nucleotide variant not provided [RCV002626030] Chr5:39341627 [GRCh38]
Chr5:39341729 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1127A>C (p.Asp376Ala) single nucleotide variant not provided [RCV002700967] Chr5:39308343 [GRCh38]
Chr5:39308445 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1580del (p.Leu527fs) deletion not provided [RCV002711440] Chr5:39288788 [GRCh38]
Chr5:39288890 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.214C>T (p.Gln72Ter) single nucleotide variant not provided [RCV002715964] Chr5:39341670 [GRCh38]
Chr5:39341772 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.1668del (p.Asn557fs) deletion not provided [RCV003063734] Chr5:39285211 [GRCh38]
Chr5:39285313 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1030A>G (p.Thr344Ala) single nucleotide variant not provided [RCV002601012] Chr5:39311218 [GRCh38]
Chr5:39311320 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1373G>A (p.Trp458Ter) single nucleotide variant not provided [RCV002720451] Chr5:39306660 [GRCh38]
Chr5:39306762 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.1099A>G (p.Met367Val) single nucleotide variant not provided [RCV002581288] Chr5:39311149 [GRCh38]
Chr5:39311251 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.846A>T (p.Leu282=) single nucleotide variant not provided [RCV002630968] Chr5:39315799 [GRCh38]
Chr5:39315901 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.931C>T (p.Arg311Cys) single nucleotide variant not provided [RCV002646465] Chr5:39311317 [GRCh38]
Chr5:39311419 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.651C>T (p.Tyr217=) single nucleotide variant not provided [RCV003088799] Chr5:39315994 [GRCh38]
Chr5:39316096 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.542G>A (p.Cys181Tyr) single nucleotide variant not provided [RCV002577687] Chr5:39331749 [GRCh38]
Chr5:39331851 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.184-8T>C single nucleotide variant not provided [RCV002671400] Chr5:39341708 [GRCh38]
Chr5:39341810 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.199A>T (p.Ile67Phe) single nucleotide variant not provided [RCV002650207] Chr5:39341685 [GRCh38]
Chr5:39341787 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1311A>G (p.Ala437=) single nucleotide variant not provided [RCV002647684] Chr5:39306722 [GRCh38]
Chr5:39306824 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1240+2T>C single nucleotide variant not provided [RCV002578605] Chr5:39308228 [GRCh38]
Chr5:39308330 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1111G>C (p.Gly371Arg) single nucleotide variant not provided [RCV003047694] Chr5:39311137 [GRCh38]
Chr5:39311239 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.604T>C (p.Leu202=) single nucleotide variant not provided [RCV002720480] Chr5:39331687 [GRCh38]
Chr5:39331789 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1104G>A (p.Lys368=) single nucleotide variant not provided [RCV003063518] Chr5:39311144 [GRCh38]
Chr5:39311246 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.990T>C (p.Tyr330=) single nucleotide variant not provided [RCV002632428] Chr5:39311258 [GRCh38]
Chr5:39311360 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.72G>A (p.Thr24=) single nucleotide variant not provided [RCV002629261] Chr5:39364393 [GRCh38]
Chr5:39364495 [GRCh37]
Chr5:5p13.1		 benign
NM_001737.5(C9):c.1427_1432del (p.Ile476_Tyr477del) microsatellite not provided [RCV002605166] Chr5:39288936..39288941 [GRCh38]
Chr5:39289038..39289043 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.334T>G (p.Cys112Gly) single nucleotide variant not provided [RCV002943542] Chr5:39341288 [GRCh38]
Chr5:39341390 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.416G>A (p.Arg139His) single nucleotide variant Inborn genetic diseases [RCV003068775]|not provided [RCV003068774] Chr5:39341206 [GRCh38]
Chr5:39341308 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1151A>T (p.His384Leu) single nucleotide variant not provided [RCV002583965] Chr5:39308319 [GRCh38]
Chr5:39308421 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1240+19G>T single nucleotide variant not provided [RCV002814289] Chr5:39308211 [GRCh38]
Chr5:39308313 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.933C>T (p.Arg311=) single nucleotide variant not provided [RCV003067635] Chr5:39311315 [GRCh38]
Chr5:39311417 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.756A>G (p.Glu252=) single nucleotide variant not provided [RCV003071692] Chr5:39315889 [GRCh38]
Chr5:39315991 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.476+1G>C single nucleotide variant not provided [RCV003072196] Chr5:39341145 [GRCh38]
Chr5:39341247 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001737.5(C9):c.668C>T (p.Ala223Val) single nucleotide variant not provided [RCV002608921] Chr5:39315977 [GRCh38]
Chr5:39316079 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.80A>G (p.Tyr27Cys) single nucleotide variant not provided [RCV002612822] Chr5:39342194 [GRCh38]
Chr5:39342296 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.360T>C (p.Asn120=) single nucleotide variant not provided [RCV002944234] Chr5:39341262 [GRCh38]
Chr5:39341364 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.440T>C (p.Val147Ala) single nucleotide variant not provided [RCV002612505] Chr5:39341182 [GRCh38]
Chr5:39341284 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1346T>C (p.Val449Ala) single nucleotide variant Complement component 9 deficiency [RCV003224761] Chr5:39306687 [GRCh38]
Chr5:39306789 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1392T>G (p.Asp464Glu) single nucleotide variant Inborn genetic diseases [RCV003193738] Chr5:39306641 [GRCh38]
Chr5:39306743 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.647A>G (p.His216Arg) single nucleotide variant Inborn genetic diseases [RCV003379597] Chr5:39315998 [GRCh38]
Chr5:39316100 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.959T>C (p.Val320Ala) single nucleotide variant Inborn genetic diseases [RCV003379690] Chr5:39311289 [GRCh38]
Chr5:39311391 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.953C>T (p.Thr318Ile) single nucleotide variant Inborn genetic diseases [RCV003386734] Chr5:39311295 [GRCh38]
Chr5:39311397 [GRCh37]
Chr5:5p13.1		 uncertain significance
GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3 copy number gain See cases [RCV003482191] Chr5:29299893..45899898 [GRCh38]
Chr5:5p13.3-12		 likely pathogenic
NM_001737.5(C9):c.326C>A (p.Thr109Lys) single nucleotide variant C9-related disorder [RCV003406038] Chr5:39341558 [GRCh38]
Chr5:39341660 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.851del (p.Leu284fs) deletion not provided [RCV003579605] Chr5:39315794 [GRCh38]
Chr5:39315896 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.1050G>A (p.Gly350=) single nucleotide variant not provided [RCV003831394] Chr5:39311198 [GRCh38]
Chr5:39311300 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1112G>C (p.Gly371Ala) single nucleotide variant not provided [RCV003831537] Chr5:39308358 [GRCh38]
Chr5:39308460 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.143G>A (p.Trp48Ter) single nucleotide variant not provided [RCV003574340] Chr5:39342131 [GRCh38]
Chr5:39342233 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.528C>T (p.Phe176=) single nucleotide variant not provided [RCV003547086] Chr5:39331763 [GRCh38]
Chr5:39331865 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1284C>T (p.Leu428=) single nucleotide variant not provided [RCV003716526] Chr5:39306749 [GRCh38]
Chr5:39306851 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.615+9C>T single nucleotide variant not provided [RCV003880507] Chr5:39331667 [GRCh38]
Chr5:39331769 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1078T>C (p.Tyr360His) single nucleotide variant not provided [RCV003573842] Chr5:39311170 [GRCh38]
Chr5:39311272 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1645+17T>C single nucleotide variant not provided [RCV003880766] Chr5:39288706 [GRCh38]
Chr5:39288808 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.852del (p.Leu284fs) deletion not provided [RCV003851263] Chr5:39315793 [GRCh38]
Chr5:39315895 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.1149T>C (p.Tyr383=) single nucleotide variant not provided [RCV003833752] Chr5:39308321 [GRCh38]
Chr5:39308423 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.329-2A>G single nucleotide variant not provided [RCV003549245] Chr5:39341295 [GRCh38]
Chr5:39341397 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001737.5(C9):c.207C>T (p.Val69=) single nucleotide variant not provided [RCV003850136] Chr5:39341677 [GRCh38]
Chr5:39341779 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.255A>G (p.Arg85=) single nucleotide variant not provided [RCV003665293] Chr5:39341629 [GRCh38]
Chr5:39341731 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.735C>T (p.Pro245=) single nucleotide variant not provided [RCV003855513] Chr5:39315910 [GRCh38]
Chr5:39316012 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1646-14T>C single nucleotide variant not provided [RCV003834889] Chr5:39285247 [GRCh38]
Chr5:39285349 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1587C>T (p.Ala529=) single nucleotide variant not provided [RCV003550110] Chr5:39288781 [GRCh38]
Chr5:39288883 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.452A>G (p.Glu151Gly) single nucleotide variant not provided [RCV003811206] Chr5:39341170 [GRCh38]
Chr5:39341272 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1417-13T>G single nucleotide variant not provided [RCV003854593] Chr5:39288964 [GRCh38]
Chr5:39289066 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.183+17C>T single nucleotide variant not provided [RCV003698160] Chr5:39342074 [GRCh38]
Chr5:39342176 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.213A>C (p.Gly71=) single nucleotide variant not provided [RCV003840152] Chr5:39341671 [GRCh38]
Chr5:39341773 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.909G>A (p.Leu303=) single nucleotide variant not provided [RCV003667255] Chr5:39311339 [GRCh38]
Chr5:39311441 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.858_863del (p.Tyr286_Ser288delinsTer) deletion not provided [RCV003549643] Chr5:39315782..39315787 [GRCh38]
Chr5:39315884..39315889 [GRCh37]
Chr5:5p13.1		 pathogenic
NM_001737.5(C9):c.1402C>T (p.Leu468Phe) single nucleotide variant Inborn genetic diseases [RCV004369504]|not provided [RCV003852057] Chr5:39306631 [GRCh38]
Chr5:39306733 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.609C>T (p.Ile203=) single nucleotide variant not provided [RCV003668221] Chr5:39331682 [GRCh38]
Chr5:39331784 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.811C>T (p.Arg271Trp) single nucleotide variant not provided [RCV003710483] Chr5:39315834 [GRCh38]
Chr5:39315936 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.580C>G (p.Arg194Gly) single nucleotide variant not provided [RCV003711356] Chr5:39331711 [GRCh38]
Chr5:39331813 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.372C>G (p.Asp124Glu) single nucleotide variant Inborn genetic diseases [RCV004374187]|not provided [RCV003733851] Chr5:39341250 [GRCh38]
Chr5:39341352 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.871-14G>T single nucleotide variant not provided [RCV003864432] Chr5:39311391 [GRCh38]
Chr5:39311493 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.77+12A>G single nucleotide variant not provided [RCV003872356] Chr5:39364376 [GRCh38]
Chr5:39364478 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.784A>G (p.Ile262Val) single nucleotide variant not provided [RCV003563602] Chr5:39315861 [GRCh38]
Chr5:39315963 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.759A>G (p.Gln253=) single nucleotide variant not provided [RCV003554821] Chr5:39315886 [GRCh38]
Chr5:39315988 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1233T>G (p.Gly411=) single nucleotide variant not provided [RCV003848576] Chr5:39308237 [GRCh38]
Chr5:39308339 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.750A>G (p.Lys250=) single nucleotide variant not provided [RCV003684889] Chr5:39315895 [GRCh38]
Chr5:39315997 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.616-19_616-17dup duplication not provided [RCV003857069] Chr5:39316045..39316046 [GRCh38]
Chr5:39316147..39316148 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1518T>C (p.Ser506=) single nucleotide variant not provided [RCV003869848] Chr5:39288850 [GRCh38]
Chr5:39288952 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1416+10G>A single nucleotide variant not provided [RCV003566615] Chr5:39306607 [GRCh38]
Chr5:39306709 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1626T>C (p.Ser542=) single nucleotide variant not provided [RCV003734426] Chr5:39288742 [GRCh38]
Chr5:39288844 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1609A>G (p.Ile537Val) single nucleotide variant Inborn genetic diseases [RCV004431965] Chr5:39288759 [GRCh38]
Chr5:39288861 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.643G>A (p.Glu215Lys) single nucleotide variant Inborn genetic diseases [RCV004431966] Chr5:39316002 [GRCh38]
Chr5:39316104 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1274T>C (p.Val425Ala) single nucleotide variant Inborn genetic diseases [RCV004431963] Chr5:39306759 [GRCh38]
Chr5:39306861 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.1282C>T (p.Leu428Phe) single nucleotide variant Inborn genetic diseases [RCV004431964] Chr5:39306751 [GRCh38]
Chr5:39306853 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.728T>G (p.Phe243Cys) single nucleotide variant Inborn genetic diseases [RCV004431967] Chr5:39315917 [GRCh38]
Chr5:39316019 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.88G>A (p.Glu30Lys) single nucleotide variant Inborn genetic diseases [RCV004431969] Chr5:39342186 [GRCh38]
Chr5:39342288 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.170G>A (p.Cys57Tyr) single nucleotide variant Age related macular degeneration 15 [RCV004566483] Chr5:39342104 [GRCh38]
Chr5:39342206 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.877A>G (p.Met293Val) single nucleotide variant Inborn genetic diseases [RCV004431968] Chr5:39311371 [GRCh38]
Chr5:39311473 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.935A>G (p.Asp312Gly) single nucleotide variant Inborn genetic diseases [RCV004431970] Chr5:39311313 [GRCh38]
Chr5:39311415 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.917T>C (p.Phe306Ser) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004558090] Chr5:39311331 [GRCh38]
Chr5:39311433 [GRCh37]
Chr5:5p13.1		 likely benign
NM_001737.5(C9):c.1273G>A (p.Val425Ile) single nucleotide variant Inborn genetic diseases [RCV004431961] Chr5:39306760 [GRCh38]
Chr5:39306862 [GRCh37]
Chr5:5p13.1		 uncertain significance
NC_000005.9:g.(?_39306699)_(39331936_?)dup duplication not provided [RCV004580575] Chr5:39306699..39331936 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001737.5(C9):c.287A>T (p.Asp96Val) single nucleotide variant Inborn genetic diseases [RCV004606040] Chr5:39341597 [GRCh38]
Chr5:39341699 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.866A>T (p.Lys289Met) single nucleotide variant Inborn genetic diseases [RCV004606041] Chr5:39315779 [GRCh38]
Chr5:39315881 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.326C>T (p.Thr109Ile) single nucleotide variant Inborn genetic diseases [RCV004607245] Chr5:39341558 [GRCh38]
Chr5:39341660 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.165T>A (p.Asp55Glu) single nucleotide variant Inborn genetic diseases [RCV004606039] Chr5:39342109 [GRCh38]
Chr5:39342211 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.745A>C (p.Asn249His) single nucleotide variant not provided [RCV004697511] Chr5:39315900 [GRCh38]
Chr5:39316002 [GRCh37]
Chr5:5p13.1		 uncertain significance
NM_001737.5(C9):c.184-1G>A single nucleotide variant Complement component 9 deficiency [RCV004764581] Chr5:39341701 [GRCh38]
Chr5:39341803 [GRCh37]
Chr5:5p13.1		 likely pathogenic
NM_001737.5(C9):c.-3A>G single nucleotide variant C9-related disorder [RCV004743061] Chr5:39364467 [GRCh38]
Chr5:39364569 [GRCh37]
Chr5:5p13.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:532
Count of miRNA genes:440
Interacting mature miRNAs:474
Transcripts:ENST00000263408, ENST00000467285, ENST00000483232, ENST00000509186
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
WI-12573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,365,358 - 39,365,508UniSTSGRCh37
Build 36539,401,115 - 39,401,265RGDNCBI36
Celera539,252,283 - 39,252,433RGD
Cytogenetic Map5p14-p12UniSTS
HuRef539,316,966 - 39,317,116UniSTS
GeneMap99-GB4 RH Map5131.02UniSTS
Whitehead-RH Map5125.0UniSTS
SHGC-80007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,286,145 - 39,286,454UniSTSGRCh37
Build 36539,321,902 - 39,322,211RGDNCBI36
Celera539,172,731 - 39,173,040RGD
Cytogenetic Map5p14-p12UniSTS
HuRef539,237,429 - 39,237,738UniSTS
TNG Radiation Hybrid Map518989.0UniSTS
RH11647  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,285,848 - 39,286,014UniSTSGRCh37
Build 36539,321,605 - 39,321,771RGDNCBI36
Celera539,172,434 - 39,172,600RGD
Cytogenetic Map5p14-p12UniSTS
HuRef539,237,132 - 39,237,298UniSTS
GeneMap99-GB4 RH Map5132.07UniSTS
NCBI RH Map5153.5UniSTS
D5S2371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,285,161 - 39,285,300UniSTSGRCh37
Build 36539,320,918 - 39,321,057RGDNCBI36
Celera539,171,747 - 39,171,886RGD
Cytogenetic Map5p14-p12UniSTS
HuRef539,236,444 - 39,236,583UniSTS
Stanford-G3 RH Map51559.0UniSTS
Whitehead-YAC Contig Map5 UniSTS
NCBI RH Map5178.9UniSTS
GeneMap99-G3 RH Map51554.0UniSTS
SGC33368  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,285,817 - 39,285,966UniSTSGRCh37
Build 36539,321,574 - 39,321,723RGDNCBI36
Celera539,172,403 - 39,172,552RGD
Cytogenetic Map5p14-p12UniSTS
HuRef539,237,101 - 39,237,250UniSTS
TNG Radiation Hybrid Map518989.0UniSTS
GeneMap99-GB4 RH Map5133.52UniSTS
Whitehead-RH Map5126.7UniSTS
STS-K02766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37539,284,834 - 39,284,966UniSTSGRCh37
Build 36539,320,591 - 39,320,723RGDNCBI36
Celera539,171,420 - 39,171,552RGD
Cytogenetic Map5p14-p12UniSTS
HuRef539,236,117 - 39,236,249UniSTS
GeneMap99-GB4 RH Map5148.87UniSTS
NCBI RH Map596.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1081 1617 1997 1612 3198 1548 1812 4 562 893 446 1871 4712 4379 15 2155 641 1271 1196 123

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ251818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW662752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB135741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB157001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB184596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J02833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K02766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000263408   ⟹   ENSP00000263408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,284,140 - 39,364,495 (-)Ensembl
Ensembl Acc Id: ENST00000467285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,341,081 - 39,364,495 (-)Ensembl
Ensembl Acc Id: ENST00000483232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,331,773 - 39,424,868 (-)Ensembl
Ensembl Acc Id: ENST00000509186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,284,140 - 39,371,324 (-)Ensembl
Ensembl Acc Id: ENST00000695880   ⟹   ENSP00000512236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,284,228 - 39,364,495 (-)Ensembl
Ensembl Acc Id: ENST00000695881   ⟹   ENSP00000512237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,284,276 - 39,364,503 (-)Ensembl
Ensembl Acc Id: ENST00000695882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,285,088 - 39,315,871 (-)Ensembl
Ensembl Acc Id: ENST00000695883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl539,315,217 - 39,364,495 (-)Ensembl
RefSeq Acc Id: NM_001737   ⟹   NP_001728
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,284,140 - 39,364,495 (-)NCBI
GRCh37539,284,377 - 39,364,655 (-)ENTREZGENE
Build 36539,320,758 - 39,400,412 (-)NCBI Archive
HuRef539,235,660 - 39,316,262 (-)ENTREZGENE
CHM1_1539,286,294 - 39,366,561 (-)NCBI
T2T-CHM13v2.0539,533,654 - 39,614,008 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001728   ⟸   NM_001737
- Peptide Label: preproprotein
- UniProtKB: P02748 (UniProtKB/Swiss-Prot),   A0A8Q3SI95 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000263408   ⟸   ENST00000263408
Ensembl Acc Id: ENSP00000512236   ⟸   ENST00000695880
Ensembl Acc Id: ENSP00000512237   ⟸   ENST00000695881
Protein Domains
EGF-like   LDL-receptor class A   MACPF   TSP type-1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02748-F1-model_v2 AlphaFold P02748 1-559 view protein structure

Promoters
RGD ID:6869450
Promoter ID:EPDNEW_H7888
Type:multiple initiation site
Name:C9_1
Description:complement C9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38539,364,495 - 39,364,555EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1358 AgrOrtholog
COSMIC C9 COSMIC
Ensembl Genes ENSG00000113600 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000263408 ENTREZGENE
  ENST00000263408.5 UniProtKB/Swiss-Prot
  ENST00000509186.6 UniProtKB/TrEMBL
  ENST00000695880.1 UniProtKB/TrEMBL
  ENST00000695881.1 UniProtKB/TrEMBL
Gene3D-CATH 2.20.100.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.400.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000113600 GTEx
HGNC ID HGNC:1358 ENTREZGENE
Human Proteome Map C9 Human Proteome Map
InterPro Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDL_receptor-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLR_class-A_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDrepeatLR_classA_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAC_perforin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MACPF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MACPF_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_rpt_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:735 UniProtKB/Swiss-Prot
NCBI Gene 735 ENTREZGENE
OMIM 120940 OMIM
PANTHER COMPLEMENT COMPONENT C6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR45742:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ldl_recept_a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MACPF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25968 PharmGKB
PRINTS COMPLEMENTC9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EGF_1 UniProtKB/Swiss-Prot
  EGF_2 UniProtKB/Swiss-Prot
  LDLRA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLRA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MACPF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MACPF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LDLa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MACPF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57424 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF82895 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8Q3SI37_HUMAN UniProtKB/TrEMBL
  A0A8Q3SI39_HUMAN UniProtKB/TrEMBL
  A0A8Q3SI95 ENTREZGENE, UniProtKB/TrEMBL
  CO9_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9UGI4_HUMAN UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-16 C9  complement C9  C9  complement component 9  Symbol and/or name change 5135510 APPROVED