HMCN1 (hemicentin 1) - Rat Genome Database

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Gene: HMCN1 (hemicentin 1) Homo sapiens
Analyze
Symbol: HMCN1
Name: hemicentin 1
RGD ID: 1605323
HGNC Page HGNC:19194
Description: An extracellular matrix structural constituent. Involved in actin cytoskeleton organization. Located in collagen-containing extracellular matrix and extracellular exosome. Implicated in age related macular degeneration 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: age-related macular degeneration 1 (senile macular degeneration); ARMD1; FBLN6; FIBL-6; FIBL6; fibulin 6; fibulin-6; hemicentin-1; LOC100507250/HMCN1 fusion
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
GRCh381185,734,391 - 186,190,949 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1185,734,391 - 186,190,949 (+)EnsemblGRCh38hg38GRCh38
GRCh371185,703,523 - 186,160,081 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361183,970,306 - 184,426,708 (+)NCBINCBI36Build 36hg18NCBI36
Celera1158,814,385 - 159,270,786 (+)NCBICelera
Cytogenetic Map1q25.3-q31.1NCBI
HuRef1156,938,491 - 157,394,637 (+)NCBIHuRef
CHM1_11187,122,845 - 187,579,213 (+)NCBICHM1_1
T2T-CHM13v2.01185,089,079 - 185,545,614 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
17beta-estradiol  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (ISO)
alpha-Zearalanol  (ISO)
aristolochic acid A  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
Benzo[k]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
choline  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
daidzein  (EXP)
daidzein 7-O-beta-D-glucoside  (EXP)
dexamethasone  (EXP)
dioxygen  (ISO)
diquat  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (EXP)
folic acid  (ISO)
genistein  (EXP,ISO)
genistein 7-O-beta-D-glucoside  (EXP)
glycitein  (EXP)
glycitin  (EXP)
L-methionine  (ISO)
Lasiocarpine  (EXP)
methapyrilene  (EXP)
methotrexate  (EXP)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
nickel atom  (EXP)
O-methyleugenol  (EXP)
ochratoxin A  (EXP)
ozone  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctanoic acid  (ISO)
progesterone  (EXP)
raloxifene  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
topotecan  (EXP)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
xylitol  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9715689   PMID:11222143   PMID:12388743   PMID:14570714   PMID:14702039   PMID:15370542   PMID:15467524   PMID:16710414   PMID:16885922   PMID:17057786   PMID:17157600   PMID:17216616  
PMID:17591627   PMID:19190085   PMID:19229767   PMID:19696174   PMID:19948975   PMID:20299368   PMID:21873635   PMID:22261194   PMID:22939629   PMID:22981695   PMID:23376485   PMID:23533145  
PMID:23534349   PMID:24604465   PMID:24912920   PMID:24951538   PMID:25332235   PMID:25338956   PMID:25963833   PMID:25986072   PMID:26344197   PMID:28344315   PMID:28977470   PMID:29488390  
PMID:29500156   PMID:30021884   PMID:30809309   PMID:31638245   PMID:32414224   PMID:34299191   PMID:35509820   PMID:35563538   PMID:35886066  


Genomics

Comparative Map Data
HMCN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381185,734,391 - 186,190,949 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1185,734,391 - 186,190,949 (+)EnsemblGRCh38hg38GRCh38
GRCh371185,703,523 - 186,160,081 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361183,970,306 - 184,426,708 (+)NCBINCBI36Build 36hg18NCBI36
Celera1158,814,385 - 159,270,786 (+)NCBICelera
Cytogenetic Map1q25.3-q31.1NCBI
HuRef1156,938,491 - 157,394,637 (+)NCBIHuRef
CHM1_11187,122,845 - 187,579,213 (+)NCBICHM1_1
T2T-CHM13v2.01185,089,079 - 185,545,614 (+)NCBIT2T-CHM13v2.0
Hmcn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391150,438,251 - 150,869,568 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1150,438,275 - 150,869,186 (-)EnsemblGRCm39 Ensembl
GRCm381150,562,500 - 150,993,652 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1150,562,524 - 150,993,435 (-)EnsemblGRCm38mm10GRCm38
MGSCv371150,488,170 - 150,802,827 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361152,635,966 - 152,755,653 (-)NCBIMGSCv36mm8
Celera1153,006,498 - 153,437,575 (-)NCBICelera
Cytogenetic Map1G1NCBI
cM Map163.84NCBI
Hmcn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81365,165,532 - 65,634,681 (-)NCBIGRCr8
mRatBN7.21362,615,461 - 63,084,524 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1362,615,461 - 63,084,524 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1365,251,755 - 65,716,143 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01366,522,976 - 66,980,354 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01363,789,725 - 64,243,174 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01367,799,791 - 68,360,664 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1367,799,791 - 68,360,664 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01372,762,698 - 72,782,812 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01372,887,371 - 73,322,089 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41365,296,682 - 65,779,372 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1362,569,267 - 63,028,084 (-)NCBICelera
Cytogenetic Map13q21NCBI
Hmcn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540624,229,973 - 24,622,314 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540624,229,666 - 24,623,341 (+)NCBIChiLan1.0ChiLan1.0
HMCN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2163,529,719 - 63,992,614 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1163,211,135 - 63,673,640 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01161,254,948 - 161,717,526 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11165,407,909 - 165,870,219 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1165,522,384 - 165,869,148 (+)Ensemblpanpan1.1panPan2
HMCN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1718,798,802 - 19,254,847 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl718,798,796 - 19,253,786 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha718,318,234 - 18,776,558 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0718,532,233 - 18,990,765 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl718,532,242 - 18,990,049 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1718,440,588 - 18,897,706 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0718,548,519 - 19,007,053 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0718,679,642 - 19,137,567 (+)NCBIUU_Cfam_GSD_1.0
Hmcn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934486,365,905 - 86,743,041 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364814,213,631 - 4,589,464 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364814,212,713 - 4,494,469 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HMCN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9126,850,313 - 127,342,685 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19126,850,208 - 127,342,696 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29139,722,309 - 139,770,641 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HMCN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12543,230,265 - 43,677,315 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2543,231,328 - 43,554,097 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605544,419,653 - 44,876,647 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hmcn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248147,424,937 - 7,730,917 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248147,423,844 - 7,844,890 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HMCN1
2853 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_031935.3(HMCN1):c.13231-4A>G single nucleotide variant Age related macular degeneration 1 [RCV000305069]|HMCN1-related disorder [RCV003949976]|not provided [RCV002059394] Chr1:186132324 [GRCh38]
Chr1:186101456 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.16034A>G (p.Gln5345Arg) single nucleotide variant Age related macular degeneration 1 [RCV001102262]|MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO [RCV000002289]|not provided [RCV001851577] Chr1:186178506 [GRCh38]
Chr1:186147638 [GRCh37]
Chr1:1q31.1		 risk factor|likely benign|uncertain significance
NM_031935.2(HMCN1):c.268+5217A>G single nucleotide variant Lung cancer [RCV000090107] Chr1:185740264 [GRCh38]
Chr1:185709396 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.2(HMCN1):c.268+38163T>C single nucleotide variant Lung cancer [RCV000090108] Chr1:185773210 [GRCh38]
Chr1:185742342 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.2(HMCN1):c.2212+1572A>G single nucleotide variant Lung cancer [RCV000090112] Chr1:185967487 [GRCh38]
Chr1:185936619 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.2(HMCN1):c.8485+92G>C single nucleotide variant Lung cancer [RCV000090113] Chr1:186076714 [GRCh38]
Chr1:186045846 [GRCh37]
Chr1:1q31.1		 uncertain significance
GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1 copy number loss See cases [RCV000051221] Chr1:175035040..186042595 [GRCh38]
Chr1:175004176..186011727 [GRCh37]
Chr1:173270799..184278350 [NCBI36]
Chr1:1q25.1-31.1		 pathogenic
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 copy number loss See cases [RCV000053948] Chr1:179032905..199724897 [GRCh38]
Chr1:179002040..199694025 [GRCh37]
Chr1:177268663..197960648 [NCBI36]
Chr1:1q25.2-32.1		 pathogenic
GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1 copy number loss See cases [RCV000053949] Chr1:182137726..186931125 [GRCh38]
Chr1:182106861..186900257 [GRCh37]
Chr1:180373484..185166880 [NCBI36]
Chr1:1q25.3-31.1		 pathogenic
NM_031935.2(HMCN1):c.6099T>G (p.Cys2033Trp) single nucleotide variant Malignant melanoma [RCV000064382] Chr1:186039798 [GRCh38]
Chr1:186008930 [GRCh37]
Chr1:184275553 [NCBI36]
Chr1:1q31.1		 not provided
NM_031935.2(HMCN1):c.9034C>T (p.Leu3012Phe) single nucleotide variant Malignant melanoma [RCV000064383] Chr1:186086395 [GRCh38]
Chr1:186055527 [GRCh37]
Chr1:184322150 [NCBI36]
Chr1:1q31.1		 not provided
NM_031935.2(HMCN1):c.10708C>T (p.Pro3570Ser) single nucleotide variant Malignant melanoma [RCV000064384] Chr1:186103606 [GRCh38]
Chr1:186072738 [GRCh37]
Chr1:184339361 [NCBI36]
Chr1:1q31.1		 not provided
NM_031935.2(HMCN1):c.13598C>T (p.Ser4533Phe) single nucleotide variant Malignant melanoma [RCV000064385] Chr1:186137513 [GRCh38]
Chr1:186106645 [GRCh37]
Chr1:184373268 [NCBI36]
Chr1:1q31.1		 not provided
NM_031935.2(HMCN1):c.10271A>G (p.Lys3424Arg) single nucleotide variant Malignant melanoma [RCV000060016] Chr1:186094350 [GRCh38]
Chr1:186063482 [GRCh37]
Chr1:184330105 [NCBI36]
Chr1:1q31.1		 not provided
NM_031935.2(HMCN1):c.269-36893T>C single nucleotide variant Lung cancer [RCV000090109] Chr1:185809133 [GRCh38]
Chr1:185778265 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.2(HMCN1):c.269-17454T>C single nucleotide variant Lung cancer [RCV000090110] Chr1:185828572 [GRCh38]
Chr1:185797704 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4673C>A (p.Ser1558Ter) single nucleotide variant not provided [RCV000087242] Chr1:186015201 [GRCh38]
Chr1:185984333 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6295C>T (p.Arg2099Ter) single nucleotide variant not provided [RCV000087243] Chr1:186041127 [GRCh38]
Chr1:186010259 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13313-4G>A single nucleotide variant Age related macular degeneration 1 [RCV000320081]|not provided [RCV000086985] Chr1:186136664 [GRCh38]
Chr1:186105796 [GRCh37]
Chr1:1q31.1		 benign|likely benign|not provided
NM_031935.3(HMCN1):c.14158G>A (p.Ala4720Thr) single nucleotide variant Age related macular degeneration 1 [RCV000395564]|not provided [RCV000086986] Chr1:186144595 [GRCh38]
Chr1:186113727 [GRCh37]
Chr1:1q31.1		 benign|likely benign|not provided
NM_031935.3(HMCN1):c.5482A>G (p.Ile1828Val) single nucleotide variant not provided [RCV000086988] Chr1:186019552 [GRCh38]
Chr1:185988684 [GRCh37]
Chr1:1q31.1		 likely benign|not provided
NM_031935.3(HMCN1):c.6917G>A (p.Arg2306Gln) single nucleotide variant not provided [RCV000086989] Chr1:186055447 [GRCh38]
Chr1:186024579 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance|not provided
NM_031935.3(HMCN1):c.9397A>G (p.Ile3133Val) single nucleotide variant Age related macular degeneration 1 [RCV000386171]|HMCN1-related disorder [RCV003964963]|not provided [RCV000086990] Chr1:186087965 [GRCh38]
Chr1:186057097 [GRCh37]
Chr1:1q31.1		 benign|likely benign|not provided
NM_031935.3(HMCN1):c.4586A>G (p.Asn1529Ser) single nucleotide variant Age related macular degeneration 1 [RCV000285435]|not provided [RCV000086987]|not specified [RCV000082285] Chr1:186007238 [GRCh38]
Chr1:185976370 [GRCh37]
Chr1:1q31.1		 benign|likely benign|not provided
NM_031935.3(HMCN1):c.8678A>G (p.Glu2893Gly) single nucleotide variant Age related macular degeneration 1 [RCV000986471]|not provided [RCV002055224]|not specified [RCV000082286] Chr1:186081285 [GRCh38]
Chr1:186050417 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.8764C>A (p.Leu2922Ile) single nucleotide variant Age related macular degeneration 1 [RCV001099799]|not provided [RCV000082287] Chr1:186081371 [GRCh38]
Chr1:186050503 [GRCh37]
Chr1:1q31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser) single nucleotide variant Age related macular degeneration 1 [RCV000360252]|not provided [RCV000962835]|not specified [RCV000082288] Chr1:186082892 [GRCh38]
Chr1:186052024 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.13040-3C>T single nucleotide variant Age related macular degeneration 1 [RCV000363423]|not provided [RCV000964163] Chr1:186130504 [GRCh38]
Chr1:186099636 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser) single nucleotide variant Age related macular degeneration 1 [RCV000333166]|not provided [RCV000971851]|not specified [RCV000180759] Chr1:186152863 [GRCh38]
Chr1:186121995 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile) single nucleotide variant Age related macular degeneration 1 [RCV000366753]|not provided [RCV000971852]|not specified [RCV000180760] Chr1:186152864 [GRCh38]
Chr1:186121996 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.15010_15011delinsTT (p.Thr5004Phe) indel Age related macular degeneration 1 [RCV003454476]|not provided [RCV002054158]|not specified [RCV000180761] Chr1:186152863..186152864 [GRCh38]
Chr1:186121995..186121996 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.16792C>T (p.Arg5598Ter) single nucleotide variant Malignant tumor of prostate [RCV000149316] Chr1:186189762 [GRCh38]
Chr1:186158894 [GRCh37]
Chr1:1q31.1		 uncertain significance
GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 copy number loss See cases [RCV000134144] Chr1:176595962..196301688 [GRCh38]
Chr1:176565098..196270818 [GRCh37]
Chr1:174831721..194537441 [NCBI36]
Chr1:1q25.2-31.3		 pathogenic
GRCh38/hg38 1q25.3-31.1(chr1:184888428-186622330)x1 copy number loss See cases [RCV000133938] Chr1:184888428..186622330 [GRCh38]
Chr1:184857562..186591462 [GRCh37]
Chr1:183124185..184858085 [NCBI36]
Chr1:1q25.3-31.1		 pathogenic
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 copy number gain See cases [RCV000134876] Chr1:171039975..186875957 [GRCh38]
Chr1:171009116..186845089 [GRCh37]
Chr1:169275740..185111712 [NCBI36]
Chr1:1q24.3-31.1		 pathogenic
GRCh38/hg38 1q25.3-31.1(chr1:184271950-186238594)x1 copy number loss See cases [RCV000137474] Chr1:184271950..186238594 [GRCh38]
Chr1:184241084..186207726 [GRCh37]
Chr1:182507707..184474349 [NCBI36]
Chr1:1q25.3-31.1		 uncertain significance
GRCh38/hg38 1q31.1(chr1:185959703-187743891)x3 copy number gain See cases [RCV000138114] Chr1:185959703..187743891 [GRCh38]
Chr1:185928835..187713022 [GRCh37]
Chr1:184195458..185979645 [NCBI36]
Chr1:1q31.1		 uncertain significance
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 copy number loss See cases [RCV000142369] Chr1:170929720..191065409 [GRCh38]
Chr1:170898861..191034539 [GRCh37]
Chr1:169165485..189301162 [NCBI36]
Chr1:1q24.3-31.2		 pathogenic
GRCh38/hg38 1q31.1(chr1:185977899-187712734)x3 copy number gain See cases [RCV000142712] Chr1:185977899..187712734 [GRCh38]
Chr1:185947031..187681865 [GRCh37]
Chr1:184213654..185948488 [NCBI36]
Chr1:1q31.1		 uncertain significance
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 copy number loss See cases [RCV000143688] Chr1:170036068..187555148 [GRCh38]
Chr1:170005209..187524280 [GRCh37]
Chr1:168271833..185790903 [NCBI36]
Chr1:1q24.2-31.1		 pathogenic
NM_031935.3(HMCN1):c.114G>T (p.Gly38=) single nucleotide variant Age related macular degeneration 1 [RCV000391836]|not provided [RCV000954222]|not specified [RCV000153364] Chr1:185734893 [GRCh38]
Chr1:185704025 [GRCh37]
Chr1:1q25.3		 benign|likely benign|uncertain significance
GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1 copy number loss See cases [RCV000240242] Chr1:181572003..191524283 [GRCh37]
Chr1:1q25.3-31.2		 pathogenic
NM_031935.3(HMCN1):c.3861A>G (p.Pro1287=) single nucleotide variant Age related macular degeneration 1 [RCV000407221]|not provided [RCV000961334] Chr1:185997511 [GRCh38]
Chr1:185966643 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.9929T>C (p.Leu3310Pro) single nucleotide variant Age related macular degeneration 1 [RCV000408185]|not provided [RCV001859764]|not specified [RCV004021394] Chr1:186093175 [GRCh38]
Chr1:186062307 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4910-14A>G single nucleotide variant Age related macular degeneration 1 [RCV000408345]|not provided [RCV002059372] Chr1:186015944 [GRCh38]
Chr1:185985076 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.16021T>C (p.Cys5341Arg) single nucleotide variant Age related macular degeneration 1 [RCV000363515] Chr1:186178493 [GRCh38]
Chr1:186147625 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3278C>A (p.Ala1093Glu) single nucleotide variant Age related macular degeneration 1 [RCV000387325]|not provided [RCV002522075] Chr1:185990344 [GRCh38]
Chr1:185959476 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4440T>C (p.Thr1480=) single nucleotide variant Age related macular degeneration 1 [RCV000388828] Chr1:186003809 [GRCh38]
Chr1:185972941 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16731T>C (p.Thr5577=) single nucleotide variant Age related macular degeneration 1 [RCV000388562]|HMCN1-related disorder [RCV003940098]|not provided [RCV002059404] Chr1:186189701 [GRCh38]
Chr1:186158833 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.9057T>A (p.Thr3019=) single nucleotide variant Age related macular degeneration 1 [RCV000389523] Chr1:186087227 [GRCh38]
Chr1:186056359 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13637G>A (p.Gly4546Glu) single nucleotide variant Age related macular degeneration 1 [RCV000389893]|not provided [RCV002519447] Chr1:186137552 [GRCh38]
Chr1:186106684 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.14562C>T (p.Pro4854=) single nucleotide variant Age related macular degeneration 1 [RCV000390183]|not provided [RCV002059399] Chr1:186145877 [GRCh38]
Chr1:186115009 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.2164G>A (p.Glu722Lys) single nucleotide variant Age related macular degeneration 1 [RCV000393963]|not provided [RCV000927948] Chr1:185965867 [GRCh38]
Chr1:185934999 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.9516A>T (p.Thr3172=) single nucleotide variant Age related macular degeneration 1 [RCV000395119]|not provided [RCV002059382] Chr1:186088215 [GRCh38]
Chr1:186057347 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.6511C>T (p.Arg2171Cys) single nucleotide variant Age related macular degeneration 1 [RCV000398268]|not provided [RCV002519428] Chr1:186048773 [GRCh38]
Chr1:186017905 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11938G>A (p.Val3980Met) single nucleotide variant Age related macular degeneration 1 [RCV000398584]|not provided [RCV000961335] Chr1:186119280 [GRCh38]
Chr1:186088412 [GRCh37]
Chr1:1q31.1		 benign|uncertain significance
NM_031935.3(HMCN1):c.16793G>A (p.Arg5598Gln) single nucleotide variant Age related macular degeneration 1 [RCV000399058]|not provided [RCV003556311] Chr1:186189763 [GRCh38]
Chr1:186158895 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4828G>A (p.Val1610Ile) single nucleotide variant Age related macular degeneration 1 [RCV000399333]|not provided [RCV002519422] Chr1:186015356 [GRCh38]
Chr1:185984488 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.15551C>G (p.Thr5184Ser) single nucleotide variant Age related macular degeneration 1 [RCV000399895] Chr1:186166919 [GRCh38]
Chr1:186136051 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1973A>G (p.Tyr658Cys) single nucleotide variant Age related macular degeneration 1 [RCV000399845]|not provided [RCV002519416] Chr1:185963770 [GRCh38]
Chr1:185932902 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6981G>A (p.Met2327Ile) single nucleotide variant Age related macular degeneration 1 [RCV000400207]|not provided [RCV002059376] Chr1:186055511 [GRCh38]
Chr1:186024643 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.11849-8A>C single nucleotide variant Age related macular degeneration 1 [RCV000400559]|not provided [RCV002059388] Chr1:186119183 [GRCh38]
Chr1:186088315 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.15460G>A (p.Gly5154Ser) single nucleotide variant Age related macular degeneration 1 [RCV000400553] Chr1:186166828 [GRCh38]
Chr1:186135960 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12986C>T (p.Thr4329Ile) single nucleotide variant Age related macular degeneration 1 [RCV000400972]|not provided [RCV002522083] Chr1:186130047 [GRCh38]
Chr1:186099179 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8346G>C (p.Arg2782Ser) single nucleotide variant Age related macular degeneration 1 [RCV000401127]|not provided [RCV001859762]|not specified [RCV004021391] Chr1:186076483 [GRCh38]
Chr1:186045615 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12906C>T (p.Ala4302=) single nucleotide variant Age related macular degeneration 1 [RCV000401297]|not provided [RCV002059392] Chr1:186129967 [GRCh38]
Chr1:186099099 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.3524G>A (p.Arg1175His) single nucleotide variant Age related macular degeneration 1 [RCV000401458] Chr1:185994833 [GRCh38]
Chr1:185963965 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8103T>C (p.Ile2701=) single nucleotide variant Age related macular degeneration 1 [RCV000402093]|not provided [RCV000964240] Chr1:186070721 [GRCh38]
Chr1:186039853 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.3695C>T (p.Thr1232Met) single nucleotide variant Age related macular degeneration 1 [RCV000402407]|not provided [RCV000905286] Chr1:185995004 [GRCh38]
Chr1:185964136 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.4163del (p.Pro1388fs) deletion Age related macular degeneration 1 [RCV000201932] Chr1:186001390 [GRCh38]
Chr1:185970522 [GRCh37]
Chr1:1q31.1		 pathogenic
NM_031935.3(HMCN1):c.13868G>A (p.Arg4623Gln) single nucleotide variant Age related macular degeneration 1 [RCV000293277]|not provided [RCV001859769] Chr1:186137916 [GRCh38]
Chr1:186107048 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3740C>T (p.Ala1247Val) single nucleotide variant Age related macular degeneration 1 [RCV000302363]|not provided [RCV001850501] Chr1:185995049 [GRCh38]
Chr1:185964181 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9685A>G (p.Met3229Val) single nucleotide variant Age related macular degeneration 1 [RCV000302813] Chr1:186088713 [GRCh38]
Chr1:186057845 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3422G>A (p.Arg1141His) single nucleotide variant Age related macular degeneration 1 [RCV000295471]|not provided [RCV002522076] Chr1:185993226 [GRCh38]
Chr1:185962358 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14608+14T>G single nucleotide variant Age related macular degeneration 1 [RCV000303660] Chr1:186145937 [GRCh38]
Chr1:186115069 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8166T>C (p.Asn2722=) single nucleotide variant Age related macular degeneration 1 [RCV000293811]|not provided [RCV000974875] Chr1:186074767 [GRCh38]
Chr1:186043899 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.16754A>C (p.Glu5585Ala) single nucleotide variant Age related macular degeneration 1 [RCV003454838]|Macular degeneration [RCV000296610]|not provided [RCV001859771] Chr1:186189724 [GRCh38]
Chr1:186158856 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11905G>A (p.Ala3969Thr) single nucleotide variant Age related macular degeneration 1 [RCV000297022]|not provided [RCV001859767] Chr1:186119247 [GRCh38]
Chr1:186088379 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.14726G>A (p.Arg4909His) single nucleotide variant Age related macular degeneration 1 [RCV000297106]|not provided [RCV002519450]|not specified [RCV004021401] Chr1:186151317 [GRCh38]
Chr1:186120449 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.2119G>T (p.Val707Phe) single nucleotide variant Age related macular degeneration 1 [RCV000297768]|not provided [RCV001859758] Chr1:185965822 [GRCh38]
Chr1:185934954 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.9081A>G (p.Val3027=) single nucleotide variant Age related macular degeneration 1 [RCV000295305] Chr1:186087251 [GRCh38]
Chr1:186056383 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6708A>G (p.Pro2236=) single nucleotide variant Age related macular degeneration 1 [RCV000298894]|not provided [RCV002059375] Chr1:186053832 [GRCh38]
Chr1:186022964 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.9942G>A (p.Thr3314=) single nucleotide variant Age related macular degeneration 1 [RCV000300304]|HMCN1-related disorder [RCV003977829]|not provided [RCV000958053] Chr1:186093188 [GRCh38]
Chr1:186062320 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.2212+8T>G single nucleotide variant Age related macular degeneration 1 [RCV000301377]|not provided [RCV000881857] Chr1:185965923 [GRCh38]
Chr1:185935055 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.10370G>A (p.Cys3457Tyr) single nucleotide variant Age related macular degeneration 1 [RCV000260364] Chr1:186095318 [GRCh38]
Chr1:186064450 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12043C>T (p.Pro4015Ser) single nucleotide variant Age related macular degeneration 1 [RCV000272640]|not provided [RCV002519443] Chr1:186119831 [GRCh38]
Chr1:186088963 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3048+12A>G single nucleotide variant Age related macular degeneration 1 [RCV000292124]|not provided [RCV002519417] Chr1:185987556 [GRCh38]
Chr1:185956688 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.8975C>T (p.Pro2992Leu) single nucleotide variant Age related macular degeneration 1 [RCV000261066]|not provided [RCV002519430]|not specified [RCV004021393] Chr1:186086336 [GRCh38]
Chr1:186055468 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5851+10del deletion Age related macular degeneration 1 [RCV003445832]|Macular degeneration [RCV000261277]|not provided [RCV000973457] Chr1:186038045 [GRCh38]
Chr1:186007177 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.13441T>A (p.Ser4481Thr) single nucleotide variant Age related macular degeneration 1 [RCV000261322] Chr1:186136796 [GRCh38]
Chr1:186105928 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7048C>A (p.Leu2350Met) single nucleotide variant Age related macular degeneration 1 [RCV000274052]|not provided [RCV001850504] Chr1:186055578 [GRCh38]
Chr1:186024710 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.710G>T (p.Arg237Ile) single nucleotide variant Age related macular degeneration 1 [RCV000274575]|not provided [RCV002522074] Chr1:185909425 [GRCh38]
Chr1:185878557 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.4385A>T (p.Glu1462Val) single nucleotide variant Age related macular degeneration 1 [RCV000274643]|not provided [RCV002519421] Chr1:186003754 [GRCh38]
Chr1:185972886 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10982G>C (p.Arg3661Pro) single nucleotide variant Age related macular degeneration 1 [RCV000275600]|not provided [RCV001859765]|not specified [RCV004021395] Chr1:186108590 [GRCh38]
Chr1:186077722 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.6239G>C (p.Arg2080Thr) single nucleotide variant Age related macular degeneration 1 [RCV000283753]|not provided [RCV001850503]|not specified [RCV004021388] Chr1:186041071 [GRCh38]
Chr1:186010203 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14927G>A (p.Arg4976Gln) single nucleotide variant Age related macular degeneration 1 [RCV000275937]|not provided [RCV002519451]|not specified [RCV004021402] Chr1:186152780 [GRCh38]
Chr1:186121912 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5070A>T (p.Ile1690=) single nucleotide variant Age related macular degeneration 1 [RCV000276439]|not provided [RCV000973294] Chr1:186016118 [GRCh38]
Chr1:185985250 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.1338G>A (p.Pro446=) single nucleotide variant Age related macular degeneration 1 [RCV000285534]|not provided [RCV002059364] Chr1:185925099 [GRCh38]
Chr1:185894231 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.1021+8T>C single nucleotide variant Age related macular degeneration 1 [RCV000263110]|not provided [RCV002059362] Chr1:185922507 [GRCh38]
Chr1:185891639 [GRCh37]
Chr1:1q31.1		 benign|uncertain significance
NM_031935.3(HMCN1):c.8033G>C (p.Gly2678Ala) single nucleotide variant Age related macular degeneration 1 [RCV000278171] Chr1:186070651 [GRCh38]
Chr1:186039783 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14311C>T (p.Arg4771Trp) single nucleotide variant Age related macular degeneration 1 [RCV000285834] Chr1:186145447 [GRCh38]
Chr1:186114579 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11423C>T (p.Pro3808Leu) single nucleotide variant Age related macular degeneration 1 [RCV000287036]|not provided [RCV002519440]|not specified [RCV004021397] Chr1:186115276 [GRCh38]
Chr1:186084408 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.6029-4T>C single nucleotide variant Age related macular degeneration 1 [RCV000287467]|not provided [RCV000973295] Chr1:186039724 [GRCh38]
Chr1:186008856 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.9522T>A (p.Asp3174Glu) single nucleotide variant Age related macular degeneration 1 [RCV000287525]|HMCN1-related disorder [RCV003940096]|not provided [RCV001850507] Chr1:186088221 [GRCh38]
Chr1:186057353 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.8885-7A>G single nucleotide variant Age related macular degeneration 1 [RCV000264617]|not provided [RCV002059381] Chr1:186086239 [GRCh38]
Chr1:186055371 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.15256+4A>T single nucleotide variant Age related macular degeneration 1 [RCV000287809]|HMCN1-related disorder [RCV003967829]|not provided [RCV000886157] Chr1:186153991 [GRCh38]
Chr1:186123123 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.13313-5C>T single nucleotide variant Age related macular degeneration 1 [RCV000265259]|HMCN1-related disorder [RCV003977830]|not provided [RCV000882697] Chr1:186136663 [GRCh38]
Chr1:186105795 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.2372-3C>T single nucleotide variant Age related macular degeneration 1 [RCV000265222]|not provided [RCV002059366] Chr1:185977784 [GRCh38]
Chr1:185946916 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.3550G>T (p.Val1184Phe) single nucleotide variant Age related macular degeneration 1 [RCV000279876]|not provided [RCV000972209] Chr1:185994859 [GRCh38]
Chr1:185963991 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.12230-7A>C single nucleotide variant Age related macular degeneration 1 [RCV000265611]|not provided [RCV002059390] Chr1:186122944 [GRCh38]
Chr1:186092076 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.13055A>G (p.Lys4352Arg) single nucleotide variant Age related macular degeneration 1 [RCV000266367]|not provided [RCV000892497] Chr1:186130522 [GRCh38]
Chr1:186099654 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.7371C>T (p.Cys2457=) single nucleotide variant Age related macular degeneration 1 [RCV000267160]|not provided [RCV001689974] Chr1:186061909 [GRCh38]
Chr1:186031041 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.12464G>C (p.Gly4155Ala) single nucleotide variant Age related macular degeneration 1 [RCV000281008]|not provided [RCV003765713] Chr1:186123185 [GRCh38]
Chr1:186092317 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1589C>T (p.Thr530Ile) single nucleotide variant Age related macular degeneration 1 [RCV000290419] Chr1:185933585 [GRCh38]
Chr1:185902717 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11191G>A (p.Val3731Ile) single nucleotide variant Age related macular degeneration 1 [RCV000290472]|not provided [RCV001850508] Chr1:186114038 [GRCh38]
Chr1:186083170 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13950G>C (p.Gln4650His) single nucleotide variant Age related macular degeneration 1 [RCV000291605]|not provided [RCV000897805] Chr1:186144198 [GRCh38]
Chr1:186113330 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.12159T>G (p.Ala4053=) single nucleotide variant Age related macular degeneration 1 [RCV000268969] Chr1:186120075 [GRCh38]
Chr1:186089207 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7589C>G (p.Ser2530Cys) single nucleotide variant Age related macular degeneration 1 [RCV003456049]|Macular degeneration [RCV000281785]|not provided [RCV003698756]|not specified [RCV004021390] Chr1:186065313 [GRCh38]
Chr1:186034445 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.11687C>T (p.Pro3896Leu) single nucleotide variant Age related macular degeneration 1 [RCV000281849] Chr1:186117462 [GRCh38]
Chr1:186086594 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4499A>G (p.Asn1500Ser) single nucleotide variant Age related macular degeneration 1 [RCV000282134]|not provided [RCV001859760] Chr1:186007151 [GRCh38]
Chr1:185976283 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.2739G>C (p.Leu913=) single nucleotide variant Age related macular degeneration 1 [RCV000269780]|not provided [RCV000955819] Chr1:185982338 [GRCh38]
Chr1:185951470 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.7253T>C (p.Ile2418Thr) single nucleotide variant Age related macular degeneration 1 [RCV000986470]|not provided [RCV002059379] Chr1:186057342 [GRCh38]
Chr1:186026474 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.4269A>G (p.Pro1423=) single nucleotide variant Age related macular degeneration 1 [RCV000271356]|not provided [RCV000973292] Chr1:186001662 [GRCh38]
Chr1:185970794 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.861G>A (p.Val287=) single nucleotide variant Age related macular degeneration 1 [RCV000259779]|HMCN1-related disorder [RCV003930215]|not provided [RCV002059361] Chr1:185911741 [GRCh38]
Chr1:185880873 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.5888G>T (p.Gly1963Val) single nucleotide variant Age related macular degeneration 1 [RCV000272357]|not provided [RCV000964239] Chr1:186038865 [GRCh38]
Chr1:186007997 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.15822T>C (p.Asp5274=) single nucleotide variant Age related macular degeneration 1 [RCV000272538]|not provided [RCV000974876] Chr1:186174521 [GRCh38]
Chr1:186143653 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.1266C>G (p.Ser422=) single nucleotide variant Age related macular degeneration 1 [RCV000377628]|not provided [RCV002059363] Chr1:185923634 [GRCh38]
Chr1:185892766 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.11684-13G>A single nucleotide variant Age related macular degeneration 1 [RCV000378061]|not provided [RCV002059387] Chr1:186117446 [GRCh38]
Chr1:186086578 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.15283G>A (p.Gly5095Arg) single nucleotide variant Age related macular degeneration 1 [RCV000378637]|not provided [RCV002519454] Chr1:186165137 [GRCh38]
Chr1:186134269 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7327C>T (p.Arg2443Trp) single nucleotide variant Age related macular degeneration 1 [RCV000380354]|not provided [RCV001859761]|not specified [RCV004021389] Chr1:186061865 [GRCh38]
Chr1:186030997 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11333C>T (p.Thr3778Ile) single nucleotide variant Age related macular degeneration 1 [RCV000381466]|not provided [RCV002519439] Chr1:186114875 [GRCh38]
Chr1:186084007 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.6029-11G>T single nucleotide variant Age related macular degeneration 1 [RCV000381939]|not provided [RCV002059374] Chr1:186039717 [GRCh38]
Chr1:186008849 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.1480G>A (p.Glu494Lys) single nucleotide variant Age related macular degeneration 1 [RCV000382618]|HMCN1-related disorder [RCV003967827]|not provided [RCV002059365] Chr1:185928595 [GRCh38]
Chr1:185897727 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.15732C>G (p.His5244Gln) single nucleotide variant Age related macular degeneration 1 [RCV000364750]|not provided [RCV000955822] Chr1:186172049 [GRCh38]
Chr1:186141181 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.7212A>G (p.Val2404=) single nucleotide variant Age related macular degeneration 1 [RCV000365044]|not provided [RCV002059378] Chr1:186057301 [GRCh38]
Chr1:186026433 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.3020A>T (p.Asn1007Ile) single nucleotide variant Age related macular degeneration 1 [RCV000384034]|not provided [RCV000955820] Chr1:185987516 [GRCh38]
Chr1:185956648 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.13942G>T (p.Ala4648Ser) single nucleotide variant Age related macular degeneration 1 [RCV000384061]|not provided [RCV003765714]|not specified [RCV004021400] Chr1:186144190 [GRCh38]
Chr1:186113322 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15182C>T (p.Ala5061Val) single nucleotide variant Age related macular degeneration 1 [RCV000384566]|not provided [RCV001859770] Chr1:186153913 [GRCh38]
Chr1:186123045 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11134C>T (p.Pro3712Ser) single nucleotide variant Age related macular degeneration 1 [RCV000384813]|not provided [RCV001859766]|not specified [RCV004021396] Chr1:186113981 [GRCh38]
Chr1:186083113 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.12003G>T (p.Leu4001=) single nucleotide variant Age related macular degeneration 1 [RCV000366832] Chr1:186119791 [GRCh38]
Chr1:186088923 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4382A>G (p.Asn1461Ser) single nucleotide variant Age related macular degeneration 1 [RCV000367161]|not provided [RCV001859759] Chr1:186003751 [GRCh38]
Chr1:185972883 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.602A>G (p.Asp201Gly) single nucleotide variant Age related macular degeneration 1 [RCV000367239]|not provided [RCV001859757] Chr1:185865844 [GRCh38]
Chr1:185834976 [GRCh37]
Chr1:1q31.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_031935.3(HMCN1):c.7017A>G (p.Val2339=) single nucleotide variant Age related macular degeneration 1 [RCV000368640]|not provided [RCV002059377] Chr1:186055547 [GRCh38]
Chr1:186024679 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.4998T>C (p.Ala1666=) single nucleotide variant Age related macular degeneration 1 [RCV000368748]|not provided [RCV000973293] Chr1:186016046 [GRCh38]
Chr1:185985178 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.785A>G (p.Asn262Ser) single nucleotide variant Age related macular degeneration 1 [RCV000370792]|not provided [RCV000955818] Chr1:185909500 [GRCh38]
Chr1:185878632 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.15531T>C (p.Cys5177=) single nucleotide variant Age related macular degeneration 1 [RCV000370934]|not provided [RCV000961338] Chr1:186166899 [GRCh38]
Chr1:186136031 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.12771T>C (p.His4257=) single nucleotide variant Age related macular degeneration 1 [RCV000372093]|HMCN1-related disorder [RCV003920189]|not provided [RCV000962836] Chr1:186128158 [GRCh38]
Chr1:186097290 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.13313G>A (p.Ser4438Asn) single nucleotide variant Age related macular degeneration 1 [RCV000372467]|HMCN1-related disorder [RCV003957536]|not provided [RCV002059396] Chr1:186136668 [GRCh38]
Chr1:186105800 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=) single nucleotide variant Age related macular degeneration 1 [RCV000372690]|not provided [RCV000949237] Chr1:186067946 [GRCh38]
Chr1:186037078 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.959G>A (p.Arg320Gln) single nucleotide variant Age related macular degeneration 1 [RCV000374191]|not provided [RCV001850500]|not specified [RCV004021384] Chr1:185922437 [GRCh38]
Chr1:185891569 [GRCh37]
Chr1:1q31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_031935.3(HMCN1):c.4492G>A (p.Asp1498Asn) single nucleotide variant Age related macular degeneration 1 [RCV000374296]|not provided [RCV001850502] Chr1:186007144 [GRCh38]
Chr1:185976276 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16623C>G (p.Leu5541=) single nucleotide variant Age related macular degeneration 1 [RCV000375002]|not provided [RCV000952466] Chr1:186189593 [GRCh38]
Chr1:186158725 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.12355A>G (p.Ile4119Val) single nucleotide variant Age related macular degeneration 1 [RCV000375517]|not provided [RCV003765712] Chr1:186123076 [GRCh38]
Chr1:186092208 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16295-9C>T single nucleotide variant Age related macular degeneration 1 [RCV000376108]|not provided [RCV003114464] Chr1:186182159 [GRCh38]
Chr1:186151291 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.7515G>T (p.Gly2505=) single nucleotide variant Age related macular degeneration 1 [RCV000376408]|not provided [RCV000971850] Chr1:186065239 [GRCh38]
Chr1:186034371 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.8489G>A (p.Gly2830Glu) single nucleotide variant Age related macular degeneration 1 [RCV000363550]|not provided [RCV001859763]|not specified [RCV004021392] Chr1:186078110 [GRCh38]
Chr1:186047242 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4223A>C (p.Gln1408Pro) single nucleotide variant Age related macular degeneration 1 [RCV000363588]|not provided [RCV002519419]|not specified [RCV004021385] Chr1:186001616 [GRCh38]
Chr1:185970748 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12080A>G (p.Asn4027Ser) single nucleotide variant Age related macular degeneration 1 [RCV000363789]|HMCN1-related disorder [RCV003940097]|not provided [RCV002519445] Chr1:186119868 [GRCh38]
Chr1:186089000 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.8789T>C (p.Ile2930Thr) single nucleotide variant Age related macular degeneration 1 [RCV000305557]|not provided [RCV000886355] Chr1:186082866 [GRCh38]
Chr1:186051998 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.4029A>G (p.Glu1343=) single nucleotide variant Age related macular degeneration 1 [RCV000305897]|not provided [RCV003669125] Chr1:186000199 [GRCh38]
Chr1:185969331 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.5852-12T>G single nucleotide variant Age related macular degeneration 1 [RCV000318826]|not provided [RCV002519426] Chr1:186038817 [GRCh38]
Chr1:186007949 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.8929G>A (p.Val2977Met) single nucleotide variant Age related macular degeneration 1 [RCV000319757]|not provided [RCV003546499] Chr1:186086290 [GRCh38]
Chr1:186055422 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1152A>G (p.Lys384=) single nucleotide variant Age related macular degeneration 1 [RCV000320561]|not provided [RCV000892464] Chr1:185923520 [GRCh38]
Chr1:185892652 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.12250C>T (p.His4084Tyr) single nucleotide variant Age related macular degeneration 1 [RCV000320737]|not provided [RCV000974380] Chr1:186122971 [GRCh38]
Chr1:186092103 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.1956C>T (p.Ile652=) single nucleotide variant Age related macular degeneration 1 [RCV000347670] Chr1:185962645 [GRCh38]
Chr1:185931777 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.498+15A>C single nucleotide variant Age related macular degeneration 1 [RCV000310184]|not provided [RCV002059360] Chr1:185864643 [GRCh38]
Chr1:185833775 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.7079G>A (p.Arg2360His) single nucleotide variant Age related macular degeneration 1 [RCV000310330]|not provided [RCV002519429] Chr1:186055609 [GRCh38]
Chr1:186024741 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.13310A>G (p.Gln4437Arg) single nucleotide variant Age related macular degeneration 1 [RCV000986472]|not provided [RCV002059395] Chr1:186132407 [GRCh38]
Chr1:186101539 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.9888-5C>T single nucleotide variant Age related macular degeneration 1 [RCV000358569]|HMCN1-related disorder [RCV003977828]|not provided [RCV002059384] Chr1:186093129 [GRCh38]
Chr1:186062261 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.3764C>T (p.Thr1255Met) single nucleotide variant Age related macular degeneration 1 [RCV000359500]|HMCN1-related disorder [RCV003930216]|not provided [RCV000899110] Chr1:185995073 [GRCh38]
Chr1:185964205 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.2436A>C (p.Leu812Phe) single nucleotide variant Age related macular degeneration 1 [RCV000360965]|not provided [RCV003765711] Chr1:185977851 [GRCh38]
Chr1:185946983 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15260A>T (p.Asp5087Val) single nucleotide variant Age related macular degeneration 1 [RCV000326390]|not provided [RCV002059401] Chr1:186165114 [GRCh38]
Chr1:186134246 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.10989+5A>G single nucleotide variant Age related macular degeneration 1 [RCV000330253]|HMCN1-related disorder [RCV003920188]|not provided [RCV002059386] Chr1:186108602 [GRCh38]
Chr1:186077734 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.3166A>G (p.Thr1056Ala) single nucleotide variant Age related macular degeneration 1 [RCV000330538]|not provided [RCV002059368] Chr1:185989605 [GRCh38]
Chr1:185989605..185989606 [GRCh38]
Chr1:185958737 [GRCh37]
Chr1:185958737..185958738 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.9182A>G (p.His3061Arg) single nucleotide variant Age related macular degeneration 1 [RCV000331636]|not provided [RCV001850506] Chr1:186087464 [GRCh38]
Chr1:186056596 [GRCh37]
Chr1:1q31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_031935.3(HMCN1):c.13888G>A (p.Val4630Met) single nucleotide variant Age related macular degeneration 1 [RCV000331808]|not provided [RCV002522084] Chr1:186137936 [GRCh38]
Chr1:186107068 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16121G>A (p.Arg5374Gln) single nucleotide variant Age related macular degeneration 1 [RCV000324006]|not provided [RCV002059403] Chr1:186178593 [GRCh38]
Chr1:186147725 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.12165T>G (p.Thr4055=) single nucleotide variant Age related macular degeneration 1 [RCV000324303]|not provided [RCV002059389] Chr1:186120081 [GRCh38]
Chr1:186089213 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.15834T>C (p.Asp5278=) single nucleotide variant Age related macular degeneration 1 [RCV000325143]|not provided [RCV003765715] Chr1:186174533 [GRCh38]
Chr1:186143665 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.12987C>T (p.Thr4329=) single nucleotide variant Age related macular degeneration 1 [RCV000306372]|not provided [RCV002059393] Chr1:186130048 [GRCh38]
Chr1:186099180 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.4920G>A (p.Met1640Ile) single nucleotide variant Age related macular degeneration 1 [RCV000311532]|not provided [RCV002519423]|not specified [RCV004021387] Chr1:186015968 [GRCh38]
Chr1:185985100 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala) single nucleotide variant Age related macular degeneration 1 [RCV000312377]|not provided [RCV000973458] Chr1:186130002 [GRCh38]
Chr1:186099134 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.15614G>A (p.Arg5205His) single nucleotide variant Age related macular degeneration 1 [RCV000986473]|not provided [RCV000964241] Chr1:186171376 [GRCh38]
Chr1:186140508 [GRCh37]
Chr1:1q31.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_031935.3(HMCN1):c.12536C>T (p.Thr4179Met) single nucleotide variant Age related macular degeneration 1 [RCV000336156]|not provided [RCV002059391] Chr1:186125640 [GRCh38]
Chr1:186094772 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.16728G>A (p.Gln5576=) single nucleotide variant Age related macular degeneration 1 [RCV000336421] Chr1:186189698 [GRCh38]
Chr1:186158830 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7652T>C (p.Leu2551Ser) single nucleotide variant Age related macular degeneration 1 [RCV000336779]|HMCN1-related disorder [RCV003977826]|not provided [RCV000899589] Chr1:186065376 [GRCh38]
Chr1:186034508 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.11722G>C (p.Val3908Leu) single nucleotide variant Age related macular degeneration 1 [RCV000336840]|not provided [RCV002519441] Chr1:186117497 [GRCh38]
Chr1:186086629 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3684C>T (p.Ile1228=) single nucleotide variant Age related macular degeneration 1 [RCV000337243]|not provided [RCV002519418] Chr1:185994993 [GRCh38]
Chr1:185964125 [GRCh37]
Chr1:1q31.1		 benign|uncertain significance
NM_031935.3(HMCN1):c.4857T>C (p.His1619=) single nucleotide variant Age related macular degeneration 1 [RCV000308140]|not provided [RCV002059370] Chr1:186015385 [GRCh38]
Chr1:185984517 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.782G>A (p.Arg261His) single nucleotide variant Age related macular degeneration 1 [RCV000313241]|not specified [RCV004629179] Chr1:185909497 [GRCh38]
Chr1:185878629 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15489C>T (p.Asp5163=) single nucleotide variant Age related macular degeneration 1 [RCV000313892]|not provided [RCV000904944] Chr1:186166857 [GRCh38]
Chr1:186135989 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.6996C>G (p.Pro2332=) single nucleotide variant Age related macular degeneration 1 [RCV000314282] Chr1:186055526 [GRCh38]
Chr1:186024658 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5669T>C (p.Leu1890Ser) single nucleotide variant Age related macular degeneration 1 [RCV000315255]|not provided [RCV002519424] Chr1:186023073 [GRCh38]
Chr1:185992205 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.4439C>T (p.Thr1480Ile) single nucleotide variant Age related macular degeneration 1 [RCV000331998]|not provided [RCV000974167] Chr1:186003808 [GRCh38]
Chr1:185972940 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.13442C>A (p.Ser4481Tyr) single nucleotide variant Age related macular degeneration 1 [RCV000332808]|not provided [RCV002519446] Chr1:186136797 [GRCh38]
Chr1:186105929 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10536T>C (p.Ala3512=) single nucleotide variant Age related macular degeneration 1 [RCV000334236]|not provided [RCV002059385] Chr1:186095484 [GRCh38]
Chr1:186064616 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.15440-13C>T single nucleotide variant Age related macular degeneration 1 [RCV000334916]|not provided [RCV002059402] Chr1:186166795 [GRCh38]
Chr1:186135927 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.6908T>C (p.Ile2303Thr) single nucleotide variant Age related macular degeneration 1 [RCV000335200]|not provided [RCV000966774] Chr1:186055438 [GRCh38]
Chr1:186024570 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.6435G>A (p.Leu2145=) single nucleotide variant Age related macular degeneration 1 [RCV000338915]|not provided [RCV002519427] Chr1:186045818 [GRCh38]
Chr1:186014950 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.15393C>T (p.Ser5131=) single nucleotide variant Age related macular degeneration 1 [RCV000339500]|not provided [RCV000895623] Chr1:186166257 [GRCh38]
Chr1:186135389 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.15063C>T (p.Tyr5021=) single nucleotide variant Age related macular degeneration 1 [RCV000327363]|HMCN1-related disorder [RCV003967828]|not provided [RCV000911264] Chr1:186153794 [GRCh38]
Chr1:186122926 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.5922G>C (p.Gln1974His) single nucleotide variant Age related macular degeneration 1 [RCV000327393]|not provided [RCV002059373] Chr1:186038899 [GRCh38]
Chr1:186008031 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.4772G>A (p.Ser1591Asn) single nucleotide variant Age related macular degeneration 1 [RCV000342794]|not provided [RCV002522077]|not specified [RCV004021386] Chr1:186015300 [GRCh38]
Chr1:185984432 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14323G>A (p.Gly4775Arg) single nucleotide variant Age related macular degeneration 1 [RCV000343137]|not provided [RCV002059398] Chr1:186145459 [GRCh38]
Chr1:186114591 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.13968C>T (p.Ser4656=) single nucleotide variant Age related macular degeneration 1 [RCV000344194]|not provided [RCV002059397] Chr1:186144216 [GRCh38]
Chr1:186113348 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.1406C>A (p.Thr469Lys) single nucleotide variant Macular degeneration [RCV000344335]|not provided [RCV002519415] Chr1:185925167 [GRCh38]
Chr1:185894299 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.57C>T (p.Ser19=) single nucleotide variant Age related macular degeneration 1 [RCV000345144]|not provided [RCV000946537] Chr1:185734836 [GRCh38]
Chr1:185703968 [GRCh37]
Chr1:1q25.3		 benign|likely benign
NM_031935.3(HMCN1):c.9047-12A>G single nucleotide variant Age related macular degeneration 1 [RCV000316371]|not provided [RCV002519432] Chr1:186087205 [GRCh38]
Chr1:186056337 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.4475+9C>A single nucleotide variant Age related macular degeneration 1 [RCV000317308]|not provided [RCV002059369] Chr1:186003853 [GRCh38]
Chr1:185972985 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.16573T>C (p.Leu5525=) single nucleotide variant Age related macular degeneration 1 [RCV000318006] Chr1:186189543 [GRCh38]
Chr1:186158675 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4515C>G (p.Asp1505Glu) single nucleotide variant Age related macular degeneration 1 [RCV000339471]|not provided [RCV000970172] Chr1:186007167 [GRCh38]
Chr1:185976299 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.11556A>T (p.Ser3852=) single nucleotide variant Age related macular degeneration 1 [RCV000342079]|not provided [RCV000894005] Chr1:186115409 [GRCh38]
Chr1:186084541 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.6063G>A (p.Val2021=) single nucleotide variant Age related macular degeneration 1 [RCV000342455]|not provided [RCV000917710] Chr1:186039762 [GRCh38]
Chr1:186008894 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.9546G>A (p.Thr3182=) single nucleotide variant Age related macular degeneration 1 [RCV000342515]|not provided [RCV002059383] Chr1:186088245 [GRCh38]
Chr1:186057377 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.16773G>A (p.Val5591=) single nucleotide variant Macular degeneration [RCV000349349]|not provided [RCV002059405] Chr1:186189743 [GRCh38]
Chr1:186158875 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.2098+12C>A single nucleotide variant Age related macular degeneration 1 [RCV000351303] Chr1:185963907 [GRCh38]
Chr1:185933039 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8485+14C>T single nucleotide variant Age related macular degeneration 1 [RCV000309109]|not provided [RCV002059380] Chr1:186076636 [GRCh38]
Chr1:186045768 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.12074G>A (p.Gly4025Asp) single nucleotide variant Age related macular degeneration 1 [RCV000309057]|not provided [RCV001859768]|not specified [RCV004021398] Chr1:186119862 [GRCh38]
Chr1:186088994 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.16811G>T (p.Arg5604Leu) single nucleotide variant Age related macular degeneration 1 [RCV000309691]|not provided [RCV002519455]|not specified [RCV004021403] Chr1:186189781 [GRCh38]
Chr1:186158913 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12963G>C (p.Glu4321Asp) single nucleotide variant Age related macular degeneration 1 [RCV000346167]|not provided [RCV002522082]|not specified [RCV004021399] Chr1:186130024 [GRCh38]
Chr1:186099156 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.8094G>A (p.Ala2698=) single nucleotide variant Age related macular degeneration 1 [RCV000351754]|HMCN1-related disorder [RCV003977827]|not provided [RCV000899590] Chr1:186070712 [GRCh38]
Chr1:186039844 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.11915C>T (p.Ala3972Val) single nucleotide variant Age related macular degeneration 1 [RCV000351812]|not provided [RCV002519442] Chr1:186119257 [GRCh38]
Chr1:186088389 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5706C>T (p.Asn1902=) single nucleotide variant Age related macular degeneration 1 [RCV000353688]|HMCN1-related disorder [RCV003930217]|not provided [RCV002519425] Chr1:186023110 [GRCh38]
Chr1:185992242 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.14814A>G (p.Ala4938=) single nucleotide variant Age related macular degeneration 1 [RCV000354220]|not provided [RCV002059400] Chr1:186151661 [GRCh38]
Chr1:186120793 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.10169G>A (p.Arg3390Gln) single nucleotide variant Age related macular degeneration 1 [RCV000355190]|not provided [RCV002519436] Chr1:186093642 [GRCh38]
Chr1:186062774 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8939A>C (p.Asn2980Thr) single nucleotide variant Age related macular degeneration 1 [RCV000355784]|not provided [RCV001850505] Chr1:186086300 [GRCh38]
Chr1:186055432 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.8241A>G (p.Ala2747=) single nucleotide variant Age related macular degeneration 1 [RCV000348690]|HMCN1-related disorder [RCV003910067]|not provided [RCV002522079] Chr1:186074842 [GRCh38]
Chr1:186043974 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.7494G>A (p.Thr2498=) single nucleotide variant Age related macular degeneration 1 [RCV000321684]|not provided [RCV000892822] Chr1:186062581 [GRCh38]
Chr1:186031713 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.2385C>T (p.Phe795=) single nucleotide variant Age related macular degeneration 1 [RCV000322620]|not provided [RCV002059367] Chr1:185977800 [GRCh38]
Chr1:185946932 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.*327C>A single nucleotide variant Age related macular degeneration 1 [RCV000268523] Chr1:186190205 [GRCh38]
Chr1:186159337 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.-151C>A single nucleotide variant Age related macular degeneration 1 [RCV000376858] Chr1:185734629 [GRCh38]
Chr1:185703761 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.*92A>G single nucleotide variant Age related macular degeneration 1 [RCV000400348] Chr1:186189970 [GRCh38]
Chr1:186159102 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.*674C>T single nucleotide variant Age related macular degeneration 1 [RCV000320003]|not provided [RCV004714708] Chr1:186190552 [GRCh38]
Chr1:186159684 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.*422A>C single nucleotide variant Age related macular degeneration 1 [RCV000359587] Chr1:186190300 [GRCh38]
Chr1:186159432 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.*937A>G single nucleotide variant Age related macular degeneration 1 [RCV000287604]|not provided [RCV004714709] Chr1:186190815 [GRCh38]
Chr1:186159947 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.*234G>A single nucleotide variant Age related macular degeneration 1 [RCV000360449] Chr1:186190112 [GRCh38]
Chr1:186159244 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.*872C>T single nucleotide variant Age related macular degeneration 1 [RCV000385494] Chr1:186190750 [GRCh38]
Chr1:186159882 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.*884C>G single nucleotide variant Age related macular degeneration 1 [RCV000293312] Chr1:186190762 [GRCh38]
Chr1:186159894 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.*117dup duplication Macular degeneration [RCV000308031] Chr1:186189994..186189995 [GRCh38]
Chr1:186159126..186159127 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.*18A>G single nucleotide variant Age related macular degeneration 1 [RCV000348175] Chr1:186189896 [GRCh38]
Chr1:186159028 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.*768G>T single nucleotide variant Age related macular degeneration 1 [RCV000372790] Chr1:186190646 [GRCh38]
Chr1:186159778 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.15439+14dup duplication Macular degeneration [RCV000280926]|not provided [RCV002522085] Chr1:186166316..186166317 [GRCh38]
Chr1:186135448..186135449 [GRCh37]
Chr1:1q31.1		 benign|uncertain significance
NM_031935.3(HMCN1):c.*656TAA[3] microsatellite Macular degeneration [RCV000262482] Chr1:186190533..186190535 [GRCh38]
Chr1:186159665..186159667 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15018+7T>A single nucleotide variant Age related macular degeneration 1 [RCV000274609]|not provided [RCV002519453] Chr1:186152878 [GRCh38]
Chr1:186122010 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.*775_*778del deletion Macular degeneration [RCV000275852] Chr1:186190650..186190653 [GRCh38]
Chr1:186159782..186159785 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16414+12T>C single nucleotide variant Age related macular degeneration 1 [RCV000265180] Chr1:186182299 [GRCh38]
Chr1:186151431 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16032ACA[1] (p.Gln5345del) microsatellite Age related macular degeneration 1 [RCV003454837]|Macular degeneration [RCV000266575]|not provided [RCV002522086] Chr1:186178504..186178506 [GRCh38]
Chr1:186147636..186147638 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4446T>C (p.Phe1482=) single nucleotide variant Age related macular degeneration 1 [RCV000278102] Chr1:186003815 [GRCh38]
Chr1:185972947 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16627T>C (p.Phe5543Leu) single nucleotide variant Age related macular degeneration 1 [RCV000279035] Chr1:186189597 [GRCh38]
Chr1:186158729 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.314A>G (p.Tyr105Cys) single nucleotide variant not specified [RCV004282472] Chr1:185846071 [GRCh38]
Chr1:185815203 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9406G>A (p.Ala3136Thr) single nucleotide variant Age related macular degeneration 1 [RCV000291194]|not provided [RCV002519433] Chr1:186087974 [GRCh38]
Chr1:186057106 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.*396T>G single nucleotide variant Age related macular degeneration 1 [RCV000302552] Chr1:186190274 [GRCh38]
Chr1:186159406 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.*982T>G single nucleotide variant Age related macular degeneration 1 [RCV000345170] Chr1:186190860 [GRCh38]
Chr1:186159992 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.*902G>C single nucleotide variant Age related macular degeneration 1 [RCV000345930] Chr1:186190780 [GRCh38]
Chr1:186159912 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9474A>G (p.Arg3158=) single nucleotide variant Age related macular degeneration 1 [RCV000346102]|not provided [RCV002519434] Chr1:186088173 [GRCh38]
Chr1:186057305 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.4565G>A (p.Arg1522His) single nucleotide variant Age related macular degeneration 1 [RCV000400173]|not provided [RCV003718150] Chr1:186007217 [GRCh38]
Chr1:185976349 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.-25dup duplication Macular degeneration [RCV000400263] Chr1:185734750..185734751 [GRCh38]
Chr1:185703882..185703883 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.4910-14_4910-13del deletion Age related macular degeneration 1 [RCV003445831]|Macular degeneration [RCV000346545]|not provided [RCV002059371] Chr1:186015943..186015944 [GRCh38]
Chr1:185985075..185985076 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.14649T>G (p.Ile4883Met) single nucleotide variant Age related macular degeneration 1 [RCV000401345] Chr1:186151240 [GRCh38]
Chr1:186120372 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.880G>A (p.Ala294Thr) single nucleotide variant Age related macular degeneration 1 [RCV000317218]|not specified [RCV004021383] Chr1:185911760 [GRCh38]
Chr1:185880892 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.*836dup duplication Macular degeneration [RCV000333344] Chr1:186190708..186190709 [GRCh38]
Chr1:186159840..186159841 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.*927T>C single nucleotide variant Age related macular degeneration 1 [RCV000384237] Chr1:186190805 [GRCh38]
Chr1:186159937 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.-87T>C single nucleotide variant Age related macular degeneration 1 [RCV000284659] Chr1:185734693 [GRCh38]
Chr1:185703825 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.-13dup duplication Macular degeneration [RCV000306553] Chr1:185734762..185734763 [GRCh38]
Chr1:185703894..185703895 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.12876A>G (p.Thr4292=) single nucleotide variant Age related macular degeneration 1 [RCV000351351] Chr1:186128263 [GRCh38]
Chr1:186097395 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12850A>G (p.Thr4284Ala) single nucleotide variant Age related macular degeneration 1 [RCV000296395] Chr1:186128237 [GRCh38]
Chr1:186097369 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3426T>C (p.Thr1142=) single nucleotide variant Age related macular degeneration 1 [RCV000352689] Chr1:185993230 [GRCh38]
Chr1:185962362 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10942G>C (p.Val3648Leu) single nucleotide variant Age related macular degeneration 1 [RCV000370167] Chr1:186108550 [GRCh38]
Chr1:186077682 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9657T>G (p.Ser3219Arg) single nucleotide variant Age related macular degeneration 1 [RCV000390361] Chr1:186088685 [GRCh38]
Chr1:186057817 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15352T>A (p.Ser5118Thr) single nucleotide variant Age related macular degeneration 1 [RCV000286800] Chr1:186166216 [GRCh38]
Chr1:186135348 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.-156G>A single nucleotide variant Age related macular degeneration 1 [RCV000338617] Chr1:185734624 [GRCh38]
Chr1:185703756 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.2126G>A (p.Ser709Asn) single nucleotide variant Age related macular degeneration 1 [RCV000354937] Chr1:185965829 [GRCh38]
Chr1:185934961 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14609-6dup duplication Macular degeneration [RCV000356064]|not provided [RCV002519449] Chr1:186151189..186151190 [GRCh38]
Chr1:186120321..186120322 [GRCh37]
Chr1:1q31.1		 benign|uncertain significance
NM_031935.3(HMCN1):c.7307T>C (p.Leu2436Pro) single nucleotide variant Age related macular degeneration 1 [RCV000325636] Chr1:186057396 [GRCh38]
Chr1:186026528 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5852-1G>A single nucleotide variant Age related macular degeneration 1 [RCV000375809] Chr1:186038828 [GRCh38]
Chr1:186007960 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2099-11G>A single nucleotide variant Age related macular degeneration 1 [RCV000393975] Chr1:185965791 [GRCh38]
Chr1:185934923 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15421G>A (p.Asp5141Asn) single nucleotide variant Age related macular degeneration 1 [RCV000394765] Chr1:186166285 [GRCh38]
Chr1:186135417 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11953C>T (p.His3985Tyr) single nucleotide variant Age related macular degeneration 1 [RCV000312197] Chr1:186119295 [GRCh38]
Chr1:186088427 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11240G>C (p.Arg3747Thr) single nucleotide variant Age related macular degeneration 1 [RCV000326722] Chr1:186114087 [GRCh38]
Chr1:186083219 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.-40T>C single nucleotide variant Age related macular degeneration 1 [RCV000342030] Chr1:185734740 [GRCh38]
Chr1:185703872 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.2359C>G (p.Leu787Val) single nucleotide variant Age related macular degeneration 1 [RCV000358534] Chr1:185970481 [GRCh38]
Chr1:185939613 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2086C>G (p.Leu696Val) single nucleotide variant Age related macular degeneration 1 [RCV000312926] Chr1:185963883 [GRCh38]
Chr1:185933015 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2749A>C (p.Asn917His) single nucleotide variant Age related macular degeneration 1 [RCV000327221] Chr1:185982348 [GRCh38]
Chr1:185951480 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6075T>C (p.Val2025=) single nucleotide variant Age related macular degeneration 1 [RCV000378327] Chr1:186039774 [GRCh38]
Chr1:186008906 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4352C>T (p.Pro1451Leu) single nucleotide variant Age related macular degeneration 1 [RCV000328763] Chr1:186003721 [GRCh38]
Chr1:185972853 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12189G>A (p.Pro4063=) single nucleotide variant Age related macular degeneration 1 [RCV000378891]|not provided [RCV002522081] Chr1:186120105 [GRCh38]
Chr1:186089237 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.4647A>G (p.Lys1549=) single nucleotide variant Age related macular degeneration 1 [RCV001099516]|HMCN1-related disorder [RCV003953468]|not provided [RCV002554941] Chr1:186015175 [GRCh38]
Chr1:185984307 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.6220C>A (p.Gln2074Lys) single nucleotide variant Age related macular degeneration 1 [RCV001099622]|not provided [RCV001856351]|not specified [RCV004032052] Chr1:186041052 [GRCh38]
Chr1:186010184 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6249C>T (p.Cys2083=) single nucleotide variant Age related macular degeneration 1 [RCV001099624] Chr1:186041081 [GRCh38]
Chr1:186010213 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10697G>A (p.Gly3566Asp) single nucleotide variant Age related macular degeneration 1 [RCV001099897]|not provided [RCV001796366] Chr1:186103595 [GRCh38]
Chr1:186072727 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10958T>C (p.Ile3653Thr) single nucleotide variant Age related macular degeneration 1 [RCV001099898]|not provided [RCV002554947] Chr1:186108566 [GRCh38]
Chr1:186077698 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12047G>T (p.Ser4016Ile) single nucleotide variant Age related macular degeneration 1 [RCV001099989] Chr1:186119835 [GRCh38]
Chr1:186088967 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12149G>A (p.Arg4050Gln) single nucleotide variant Age related macular degeneration 1 [RCV001099990]|not provided [RCV002558007]|not specified [RCV004032056] Chr1:186120065 [GRCh38]
Chr1:186089197 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3520C>G (p.Gln1174Glu) single nucleotide variant Age related macular degeneration 1 [RCV001099410] Chr1:185994829 [GRCh38]
Chr1:185963961 [GRCh37]
Chr1:1q31.1		 uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 copy number loss See cases [RCV000445748] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 copy number loss See cases [RCV000448809] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 copy number loss See cases [RCV000448686] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3		 pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 copy number loss See cases [RCV000512128] Chr1:179011314..199022759 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_031935.3(HMCN1):c.12502C>T (p.Pro4168Ser) single nucleotide variant not provided [RCV003779960]|not specified [RCV004309659] Chr1:186125606 [GRCh38]
Chr1:186094738 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8474T>G (p.Leu2825Trp) single nucleotide variant not specified [RCV004319198] Chr1:186076611 [GRCh38]
Chr1:186045743 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.700A>G (p.Asn234Asp) single nucleotide variant not specified [RCV004283982] Chr1:185909415 [GRCh38]
Chr1:185878547 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4778A>C (p.Gln1593Pro) single nucleotide variant not provided [RCV003777078]|not specified [RCV004324271] Chr1:186015306 [GRCh38]
Chr1:185984438 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7190G>T (p.Ser2397Ile) single nucleotide variant not specified [RCV004318465] Chr1:186057279 [GRCh38]
Chr1:186026411 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12142G>A (p.Ala4048Thr) single nucleotide variant not specified [RCV004298741] Chr1:186120058 [GRCh38]
Chr1:186089190 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14383G>C (p.Ala4795Pro) single nucleotide variant not specified [RCV004307468] Chr1:186145519 [GRCh38]
Chr1:186114651 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15746G>A (p.Arg5249His) single nucleotide variant Age related macular degeneration 1 [RCV003449455]|not provided [RCV000512711]|not specified [RCV004023455] Chr1:186172063 [GRCh38]
Chr1:186141195 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6607C>T (p.Leu2203Phe) single nucleotide variant not provided [RCV000513308] Chr1:186052981 [GRCh38]
Chr1:186022113 [GRCh37]
Chr1:1q31.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q25.1-31.1(chr1:173131908-187406532)x1 copy number loss not provided [RCV000736735] Chr1:173131908..187406532 [GRCh37]
Chr1:1q25.1-31.1		 pathogenic
GRCh37/hg19 1q25.3-31.1(chr1:185783936-185864512)x0 copy number loss not provided [RCV000736767] Chr1:185783936..185864512 [GRCh37]
Chr1:1q25.3-31.1		 benign
GRCh37/hg19 1q25.3(chr1:185784104-185785224)x0 copy number loss not provided [RCV000736768] Chr1:185784104..185785224 [GRCh37]
Chr1:1q25.3		 benign
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41		 pathogenic
GRCh37/hg19 1q25.3(chr1:185783936-185794315)x0 copy number loss not provided [RCV000749266] Chr1:185783936..185794315 [GRCh37]
Chr1:1q25.3		 benign
NM_031935.3(HMCN1):c.6246C>T (p.Thr2082=) single nucleotide variant not provided [RCV000919754] Chr1:186041078 [GRCh38]
Chr1:186010210 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.11206G>A (p.Ala3736Thr) single nucleotide variant not provided [RCV000893091] Chr1:186114053 [GRCh38]
Chr1:186083185 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.13855C>A (p.Gln4619Lys) single nucleotide variant Age related macular degeneration 1 [RCV001096680]|HMCN1-related disorder [RCV004753207]|not provided [RCV001856307]|not specified [RCV004032011] Chr1:186137903 [GRCh38]
Chr1:186107035 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.15265A>T (p.Ser5089Cys) single nucleotide variant Age related macular degeneration 1 [RCV001096767]|not provided [RCV002554900]|not specified [RCV004032014] Chr1:186165119 [GRCh38]
Chr1:186134251 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8313C>G (p.Leu2771=) single nucleotide variant Age related macular degeneration 1 [RCV001096280]|not provided [RCV002069625] Chr1:186076450 [GRCh38]
Chr1:186045582 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.16318G>A (p.Asp5440Asn) single nucleotide variant Age related macular degeneration 1 [RCV001102263]|not provided [RCV000881013] Chr1:186182191 [GRCh38]
Chr1:186151323 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.6287T>A (p.Ile2096Asn) single nucleotide variant Age related macular degeneration 1 [RCV001101595]|not provided [RCV000881173] Chr1:186041119 [GRCh38]
Chr1:186010251 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7681A>C (p.Arg2561=) single nucleotide variant not provided [RCV000920848] Chr1:186065405 [GRCh38]
Chr1:186034537 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2559T>C (p.Phe853=) single nucleotide variant not provided [RCV000958517] Chr1:185977974 [GRCh38]
Chr1:185947106 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.794-4_794-2dup duplication not provided [RCV000975436] Chr1:185911669..185911670 [GRCh38]
Chr1:185880801..185880802 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4278A>G (p.Ala1426=) single nucleotide variant not provided [RCV000883873] Chr1:186001671 [GRCh38]
Chr1:185970803 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4993G>C (p.Ala1665Pro) single nucleotide variant not provided [RCV000970698] Chr1:186016041 [GRCh38]
Chr1:185985173 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.15515G>A (p.Arg5172His) single nucleotide variant Age related macular degeneration 1 [RCV001098522]|not provided [RCV000882747] Chr1:186166883 [GRCh38]
Chr1:186136015 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15689-7T>C single nucleotide variant Age related macular degeneration 1 [RCV001100286]|not provided [RCV000922197] Chr1:186171999 [GRCh38]
Chr1:186141131 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.4511del (p.Leu1504fs) deletion Age related macular degeneration 1 [RCV000778204] Chr1:186007163 [GRCh38]
Chr1:185976295 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8776C>T (p.Arg2926Ter) single nucleotide variant Age related macular degeneration 1 [RCV000778205]|not provided [RCV001873172] Chr1:186081383 [GRCh38]
Chr1:186050515 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.36G>C (p.Leu12=) single nucleotide variant Age related macular degeneration 1 [RCV001101190]|HMCN1-related disorder [RCV003932918]|not provided [RCV000906796] Chr1:185734815 [GRCh38]
Chr1:185703947 [GRCh37]
Chr1:1q25.3		 benign|likely benign
NM_031935.3(HMCN1):c.10474C>A (p.Gln3492Lys) single nucleotide variant not provided [RCV000894299] Chr1:186095422 [GRCh38]
Chr1:186064554 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.16385A>G (p.Gln5462Arg) single nucleotide variant Age related macular degeneration 1 [RCV001096861]|not provided [RCV000963078] Chr1:186182258 [GRCh38]
Chr1:186151390 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1344A>G (p.Gln448=) single nucleotide variant not provided [RCV000895135] Chr1:185925105 [GRCh38]
Chr1:185894237 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.369T>C (p.Ile123=) single nucleotide variant HMCN1-related disorder [RCV003978035]|not provided [RCV000921529] Chr1:185864499 [GRCh38]
Chr1:185833631 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.14322C>T (p.Asn4774=) single nucleotide variant not provided [RCV000919988] Chr1:186145458 [GRCh38]
Chr1:186114590 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15450G>A (p.Glu5150=) single nucleotide variant not provided [RCV000919989] Chr1:186166818 [GRCh38]
Chr1:186135950 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15669C>G (p.Leu5223=) single nucleotide variant not provided [RCV000938861] Chr1:186171431 [GRCh38]
Chr1:186140563 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12630T>C (p.Ala4210=) single nucleotide variant not provided [RCV000894300] Chr1:186125734 [GRCh38]
Chr1:186094866 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.1285+7C>T single nucleotide variant Age related macular degeneration 1 [RCV001099293]|not provided [RCV000981338] Chr1:185923660 [GRCh38]
Chr1:185892792 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.11665G>A (p.Val3889Met) single nucleotide variant not provided [RCV003720817]|not specified [RCV004284508] Chr1:186117097 [GRCh38]
Chr1:186086229 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8509C>T (p.Arg2837Trp) single nucleotide variant Age related macular degeneration 1 [RCV001098021]|not provided [RCV000893122] Chr1:186078130 [GRCh38]
Chr1:186047262 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.13925-10G>C single nucleotide variant Age related macular degeneration 1 [RCV001096681] Chr1:186144163 [GRCh38]
Chr1:186113295 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5820G>T (p.Leu1940=) single nucleotide variant Age related macular degeneration 1 [RCV001097816] Chr1:186038004 [GRCh38]
Chr1:186007136 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5875C>T (p.Arg1959Cys) single nucleotide variant Age related macular degeneration 1 [RCV001097817] Chr1:186038852 [GRCh38]
Chr1:186007984 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5923A>G (p.Ile1975Val) single nucleotide variant Age related macular degeneration 1 [RCV001097819]|not provided [RCV001856320]|not specified [RCV004032032] Chr1:186038900 [GRCh38]
Chr1:186008032 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4090A>C (p.Lys1364Gln) single nucleotide variant Age related macular degeneration 1 [RCV001095937] Chr1:186001318 [GRCh38]
Chr1:185970450 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4348+11C>T single nucleotide variant Age related macular degeneration 1 [RCV001095941]|not provided [RCV003769040] Chr1:186001752 [GRCh38]
Chr1:185970884 [GRCh37]
Chr1:1q31.1		 benign|uncertain significance
NM_031935.3(HMCN1):c.9637C>T (p.Arg3213Trp) single nucleotide variant Age related macular degeneration 1 [RCV001096371]|not provided [RCV002555983] Chr1:186088665 [GRCh38]
Chr1:186057797 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12763A>C (p.Thr4255Pro) single nucleotide variant Age related macular degeneration 1 [RCV001096581] Chr1:186128150 [GRCh38]
Chr1:186097282 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13966A>G (p.Ser4656Gly) single nucleotide variant Age related macular degeneration 1 [RCV001096682]|not provided [RCV002557983]|not specified [RCV004032012] Chr1:186144214 [GRCh38]
Chr1:186113346 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1104A>G (p.Ser368=) single nucleotide variant Age related macular degeneration 1 [RCV001097532]|not provided [RCV002067745] Chr1:185923472 [GRCh38]
Chr1:185892604 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.2761G>C (p.Glu921Gln) single nucleotide variant Age related macular degeneration 1 [RCV001097643]|not provided [RCV003769050]|not specified [RCV004032030] Chr1:185982360 [GRCh38]
Chr1:185951492 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.16602G>A (p.Leu5534=) single nucleotide variant Age related macular degeneration 1 [RCV001096863] Chr1:186189572 [GRCh38]
Chr1:186158704 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5356A>G (p.Asn1786Asp) single nucleotide variant Age related macular degeneration 1 [RCV001096053]|not provided [RCV002069621] Chr1:186018238 [GRCh38]
Chr1:185987370 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.793+9T>C single nucleotide variant Age related macular degeneration 1 [RCV001097442]|not provided [RCV001873474] Chr1:185909517 [GRCh38]
Chr1:185878649 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.865G>A (p.Val289Met) single nucleotide variant Age related macular degeneration 1 [RCV001097443]|not provided [RCV002069645] Chr1:185911745 [GRCh38]
Chr1:185880877 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2727G>A (p.Leu909=) single nucleotide variant Age related macular degeneration 1 [RCV001095846]|not provided [RCV002554884] Chr1:185982326 [GRCh38]
Chr1:185951458 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.6816G>A (p.Ser2272=) single nucleotide variant not provided [RCV000894875] Chr1:186053940 [GRCh38]
Chr1:186023072 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2157C>T (p.Thr719=) single nucleotide variant Age related macular degeneration 1 [RCV001101290]|not provided [RCV000963599] Chr1:185965860 [GRCh38]
Chr1:185934992 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.14896+8T>A single nucleotide variant Age related macular degeneration 1 [RCV001100190]|not provided [RCV002554959] Chr1:186151751 [GRCh38]
Chr1:186120883 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.1751A>G (p.Asn584Ser) single nucleotide variant Age related macular degeneration 1 [RCV001099295]|not provided [RCV001873485] Chr1:185933747 [GRCh38]
Chr1:185902879 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1824G>T (p.Val608=) single nucleotide variant Age related macular degeneration 1 [RCV001099296] Chr1:185933820 [GRCh38]
Chr1:185902952 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6813G>A (p.Ala2271=) single nucleotide variant Age related macular degeneration 1 [RCV001096178]|not provided [RCV002555981] Chr1:186053937 [GRCh38]
Chr1:186023069 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.6897T>A (p.Pro2299=) single nucleotide variant Age related macular degeneration 1 [RCV001096179]|not provided [RCV003727845] Chr1:186055427 [GRCh38]
Chr1:186024559 [GRCh37]
Chr1:1q31.1		 benign|uncertain significance
NM_031935.3(HMCN1):c.4373A>G (p.Asn1458Ser) single nucleotide variant Age related macular degeneration 1 [RCV001097728]|not provided [RCV001873477]|not specified [RCV004032031] Chr1:186003742 [GRCh38]
Chr1:185972874 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.9446-10T>A single nucleotide variant Age related macular degeneration 1 [RCV001096370]|not provided [RCV002557981] Chr1:186088135 [GRCh38]
Chr1:186057267 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.5881C>T (p.Leu1961Phe) single nucleotide variant Age related macular degeneration 1 [RCV001097818]|not provided [RCV002069650] Chr1:186038858 [GRCh38]
Chr1:186007990 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.12667G>A (p.Glu4223Lys) single nucleotide variant Age related macular degeneration 1 [RCV001096579]|not provided [RCV002554897] Chr1:186125771 [GRCh38]
Chr1:186094903 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8618G>A (p.Gly2873Glu) single nucleotide variant Age related macular degeneration 1 [RCV001098023] Chr1:186081225 [GRCh38]
Chr1:186050357 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13230+9C>T single nucleotide variant Age related macular degeneration 1 [RCV001100097]|not provided [RCV002554956] Chr1:186130706 [GRCh38]
Chr1:186099838 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.13231-12T>G single nucleotide variant Age related macular degeneration 1 [RCV001100098] Chr1:186132316 [GRCh38]
Chr1:186101448 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12965A>T (p.Asp4322Val) single nucleotide variant Age related macular degeneration 1 [RCV001098312]|not provided [RCV001856327] Chr1:186130026 [GRCh38]
Chr1:186099158 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.14095A>G (p.Ile4699Val) single nucleotide variant Age related macular degeneration 1 [RCV001098413]|not provided [RCV001856330]|not specified [RCV004032040] Chr1:186144343 [GRCh38]
Chr1:186113475 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.16741G>A (p.Ala5581Thr) single nucleotide variant Age related macular degeneration 1 [RCV001098616]|not provided [RCV002556007] Chr1:186189711 [GRCh38]
Chr1:186158843 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.*223A>G single nucleotide variant Age related macular degeneration 1 [RCV001098617] Chr1:186190101 [GRCh38]
Chr1:186159233 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7499C>T (p.Thr2500Ile) single nucleotide variant Age related macular degeneration 1 [RCV001099715]|not provided [RCV002554945]|not specified [RCV004032053] Chr1:186062586 [GRCh38]
Chr1:186031718 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.11840T>C (p.Leu3947Pro) single nucleotide variant not provided [RCV001964098] Chr1:186117615 [GRCh38]
Chr1:186086747 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16002C>T (p.Pro5334=) single nucleotide variant Age related macular degeneration 1 [RCV001102261]|not provided [RCV000914830] Chr1:186178474 [GRCh38]
Chr1:186147606 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_031935.3(HMCN1):c.11640C>T (p.Asn3880=) single nucleotide variant Age related macular degeneration 1 [RCV001096472]|not provided [RCV002069628] Chr1:186117072 [GRCh38]
Chr1:186086204 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.15366C>A (p.His5122Gln) single nucleotide variant Age related macular degeneration 1 [RCV001096769]|not provided [RCV002554901] Chr1:186166230 [GRCh38]
Chr1:186135362 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4009A>T (p.Ile1337Phe) single nucleotide variant Age related macular degeneration 1 [RCV001101399]|HMCN1-related disorder [RCV003953471]|not provided [RCV002554975] Chr1:186000179 [GRCh38]
Chr1:185969311 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.6701-4G>C single nucleotide variant Age related macular degeneration 1 [RCV001101600]|not provided [RCV002069701] Chr1:186053821 [GRCh38]
Chr1:186022953 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.7714A>G (p.Thr2572Ala) single nucleotide variant Age related macular degeneration 1 [RCV001101698]|not provided [RCV001873495] Chr1:186067842 [GRCh38]
Chr1:186036974 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11803A>G (p.Ile3935Val) single nucleotide variant Age related macular degeneration 1 [RCV001098220]|HMCN1-related disorder [RCV003906188]|not provided [RCV002069658] Chr1:186117578 [GRCh38]
Chr1:186086710 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.4181G>T (p.Trp1394Leu) single nucleotide variant Age related macular degeneration 1 [RCV001095938] Chr1:186001409 [GRCh38]
Chr1:185970541 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4212C>T (p.Ser1404=) single nucleotide variant Age related macular degeneration 1 [RCV001095940] Chr1:186001605 [GRCh38]
Chr1:185970737 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5300+7G>T single nucleotide variant Age related macular degeneration 1 [RCV001096051] Chr1:186017078 [GRCh38]
Chr1:185986210 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5749+6G>A single nucleotide variant Age related macular degeneration 1 [RCV001096056]|not provided [RCV002069622] Chr1:186023159 [GRCh38]
Chr1:185992291 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8139+7C>A single nucleotide variant Age related macular degeneration 1 [RCV001096278]|not provided [RCV003117746] Chr1:186070764 [GRCh38]
Chr1:186039896 [GRCh37]
Chr1:1q31.1		 benign|uncertain significance
NM_031935.3(HMCN1):c.8150C>T (p.Ser2717Phe) single nucleotide variant Age related macular degeneration 1 [RCV001096279]|not provided [RCV002554892] Chr1:186074751 [GRCh38]
Chr1:186043883 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15764T>C (p.Ile5255Thr) single nucleotide variant Age related macular degeneration 1 [RCV001100287]|not provided [RCV001856362] Chr1:186172081 [GRCh38]
Chr1:186141213 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.9730C>T (p.Pro3244Ser) single nucleotide variant not provided [RCV003104486] Chr1:186090760 [GRCh38]
Chr1:186059892 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2362G>A (p.Asp788Asn) single nucleotide variant not provided [RCV003104487] Chr1:185970484 [GRCh38]
Chr1:185939616 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16280A>G (p.His5427Arg) single nucleotide variant Age related macular degeneration 1 [RCV003455758]|not provided [RCV003104520]|not specified [RCV004244504] Chr1:186178752 [GRCh38]
Chr1:186147884 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7347G>T (p.Met2449Ile) single nucleotide variant not provided [RCV003104531] Chr1:186061885 [GRCh38]
Chr1:186031017 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4349-7G>T single nucleotide variant not provided [RCV003105024] Chr1:186003711 [GRCh38]
Chr1:185972843 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7617T>A (p.Asn2539Lys) single nucleotide variant not provided [RCV003106348] Chr1:186065341 [GRCh38]
Chr1:186034473 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14516G>A (p.Arg4839Gln) single nucleotide variant Age related macular degeneration 1 [RCV003455759]|not provided [RCV003106421]|not specified [RCV004244516] Chr1:186145831 [GRCh38]
Chr1:186114963 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14371A>G (p.Asn4791Asp) single nucleotide variant not provided [RCV003106474] Chr1:186145507 [GRCh38]
Chr1:186114639 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15320-8T>C single nucleotide variant not provided [RCV003104346] Chr1:186166176 [GRCh38]
Chr1:186135308 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7389T>C (p.Ala2463=) single nucleotide variant not provided [RCV003106917] Chr1:186061927 [GRCh38]
Chr1:186031059 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8501A>G (p.Gln2834Arg) single nucleotide variant not provided [RCV003106559] Chr1:186078122 [GRCh38]
Chr1:186047254 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5481A>G (p.Thr1827=) single nucleotide variant not provided [RCV003106817] Chr1:186019551 [GRCh38]
Chr1:185988683 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14266+17G>C single nucleotide variant Age related macular degeneration 1 [RCV003446821]|not provided [RCV001541800] Chr1:186144720 [GRCh38]
Chr1:186113852 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.6549T>C (p.Thr2183=) single nucleotide variant not provided [RCV000939281] Chr1:186048811 [GRCh38]
Chr1:186017943 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3669C>T (p.Asp1223=) single nucleotide variant not provided [RCV000910620] Chr1:185994978 [GRCh38]
Chr1:185964110 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16440T>C (p.Asn5480=) single nucleotide variant not provided [RCV000896774] Chr1:186187908 [GRCh38]
Chr1:186157040 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14336G>A (p.Arg4779Gln) single nucleotide variant not provided [RCV000896944] Chr1:186145472 [GRCh38]
Chr1:186114604 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13462G>A (p.Val4488Met) single nucleotide variant HMCN1-related disorder [RCV003926200]|not provided [RCV000963242] Chr1:186136817 [GRCh38]
Chr1:186105949 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3434G>A (p.Ser1145Asn) single nucleotide variant HMCN1-related disorder [RCV003958006]|not provided [RCV000894418] Chr1:185993238 [GRCh38]
Chr1:185962370 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11276+8T>C single nucleotide variant not provided [RCV000905880] Chr1:186114131 [GRCh38]
Chr1:186083263 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12571G>A (p.Val4191Ile) single nucleotide variant Age related macular degeneration 1 [RCV001096577]|not provided [RCV000961336] Chr1:186125675 [GRCh38]
Chr1:186094807 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.14028G>A (p.Ala4676=) single nucleotide variant not provided [RCV000961337] Chr1:186144276 [GRCh38]
Chr1:186113408 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile) single nucleotide variant Age related macular degeneration 1 [RCV001099896]|HMCN1-related disorder [RCV003906058]|not provided [RCV000973296] Chr1:186103516 [GRCh38]
Chr1:186072648 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.7511C>A (p.Thr2504Lys) single nucleotide variant Age related macular degeneration 1 [RCV001099716]|not provided [RCV000946538] Chr1:186062598 [GRCh38]
Chr1:186031730 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.8757T>C (p.His2919=) single nucleotide variant Age related macular degeneration 1 [RCV001099798]|not provided [RCV000946539] Chr1:186081364 [GRCh38]
Chr1:186050496 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.14076C>T (p.Cys4692=) single nucleotide variant Age related macular degeneration 1 [RCV001098412]|not provided [RCV000910457] Chr1:186144324 [GRCh38]
Chr1:186113456 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.3551T>C (p.Val1184Ala) single nucleotide variant Age related macular degeneration 1 [RCV001101397]|not provided [RCV001856377] Chr1:185994860 [GRCh38]
Chr1:185963992 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.3999T>A (p.Asn1333Lys) single nucleotide variant Age related macular degeneration 1 [RCV001101398]|not provided [RCV002556041]|not specified [RCV004032079] Chr1:186000169 [GRCh38]
Chr1:185969301 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.7955C>T (p.Ala2652Val) single nucleotide variant Age related macular degeneration 1 [RCV001101700]|not provided [RCV002554978] Chr1:186069738 [GRCh38]
Chr1:186038870 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.7957G>A (p.Gly2653Arg) single nucleotide variant Age related macular degeneration 1 [RCV001101701]|not provided [RCV003660844] Chr1:186069740 [GRCh38]
Chr1:186038872 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11006G>A (p.Arg3669Gln) single nucleotide variant Age related macular degeneration 1 [RCV001101903]|not provided [RCV001856386] Chr1:186112828 [GRCh38]
Chr1:186081960 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12320C>T (p.Pro4107Leu) single nucleotide variant Age related macular degeneration 1 [RCV001101982]|not provided [RCV001873496] Chr1:186123041 [GRCh38]
Chr1:186092173 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12453C>A (p.Ala4151=) single nucleotide variant Age related macular degeneration 1 [RCV001101983]|not provided [RCV002554984] Chr1:186123174 [GRCh38]
Chr1:186092306 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.3403A>G (p.Met1135Val) single nucleotide variant Age related macular degeneration 1 [RCV001099408]|not provided [RCV002554937]|not specified [RCV004032051] Chr1:185993207 [GRCh38]
Chr1:185962339 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8739G>T (p.Leu2913Phe) single nucleotide variant Age related macular degeneration 1 [RCV001099797] Chr1:186081346 [GRCh38]
Chr1:186050478 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13078A>T (p.Ile4360Phe) single nucleotide variant Age related macular degeneration 1 [RCV001100095] Chr1:186130545 [GRCh38]
Chr1:186099677 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12726C>T (p.Asn4242=) single nucleotide variant Age related macular degeneration 1 [RCV001096580]|not provided [RCV002069629] Chr1:186128113 [GRCh38]
Chr1:186097245 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.15371C>T (p.Ala5124Val) single nucleotide variant Age related macular degeneration 1 [RCV001096770] Chr1:186166235 [GRCh38]
Chr1:186135367 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4782A>G (p.Ala1594=) single nucleotide variant Age related macular degeneration 1 [RCV001101499]|HMCN1-related disorder [RCV003926031]|not provided [RCV000955821] Chr1:186015310 [GRCh38]
Chr1:185984442 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.10800G>A (p.Leu3600=) single nucleotide variant not provided [RCV000913436] Chr1:186106913 [GRCh38]
Chr1:186076045 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16547G>T (p.Cys5516Phe) single nucleotide variant not specified [RCV004310680] Chr1:186189517 [GRCh38]
Chr1:186158649 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9100A>C (p.Thr3034Pro) single nucleotide variant not specified [RCV004316922] Chr1:186087270 [GRCh38]
Chr1:186056402 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3103A>G (p.Ser1035Gly) single nucleotide variant not specified [RCV004298742] Chr1:185989542 [GRCh38]
Chr1:185958674 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8812A>G (p.Ile2938Val) single nucleotide variant not provided [RCV003106676] Chr1:186082889 [GRCh38]
Chr1:186052021 [GRCh37]
Chr1:1q31.1		 uncertain significance
GRCh37/hg19 1q31.1(chr1:185892764-186021430)x1 copy number loss not provided [RCV002473815] Chr1:185892764..186021430 [GRCh37]
Chr1:1q31.1		 uncertain significance
GRCh37/hg19 1q31.1(chr1:186137950-187028283)x3 copy number gain not provided [RCV002473872] Chr1:186137950..187028283 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16460G>A (p.Arg5487His) single nucleotide variant Age related macular degeneration 1 [RCV001096862]|not provided [RCV003546614] Chr1:186187928 [GRCh38]
Chr1:186157060 [GRCh37]
Chr1:1q31.1		 benign|uncertain significance
NM_031935.3(HMCN1):c.3172G>A (p.Gly1058Ser) single nucleotide variant Age related macular degeneration 1 [RCV001097644] Chr1:185989611 [GRCh38]
Chr1:185958743 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4543G>T (p.Ala1515Ser) single nucleotide variant Age related macular degeneration 1 [RCV001099515]|not provided [RCV002554940] Chr1:186007195 [GRCh38]
Chr1:185976327 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7078C>T (p.Arg2360Cys) single nucleotide variant Age related macular degeneration 1 [RCV001097925]|not provided [RCV001856322] Chr1:186055608 [GRCh38]
Chr1:186024740 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6228C>T (p.Ser2076=) single nucleotide variant Age related macular degeneration 1 [RCV001099623]|not provided [RCV002558005] Chr1:186041060 [GRCh38]
Chr1:186010192 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.15440-9C>T single nucleotide variant Age related macular degeneration 1 [RCV001098521]|HMCN1-related disorder [RCV003945807]|not provided [RCV002069661] Chr1:186166799 [GRCh38]
Chr1:186135931 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.7615A>G (p.Asn2539Asp) single nucleotide variant Age related macular degeneration 1 [RCV001099717] Chr1:186065339 [GRCh38]
Chr1:186034471 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13162G>A (p.Val4388Met) single nucleotide variant Age related macular degeneration 1 [RCV001100096]|not provided [RCV002554954]|not specified [RCV004032060] Chr1:186130629 [GRCh38]
Chr1:186099761 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14639T>G (p.Ile4880Ser) single nucleotide variant Age related macular degeneration 1 [RCV001100188]|not provided [RCV002554958] Chr1:186151230 [GRCh38]
Chr1:186120362 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14738C>A (p.Thr4913Asn) single nucleotide variant Age related macular degeneration 1 [RCV001100189]|HMCN1-related disorder [RCV003918675]|not provided [RCV001856360] Chr1:186151329 [GRCh38]
Chr1:186120461 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.15561G>T (p.Gly5187=) single nucleotide variant Age related macular degeneration 1 [RCV001100283]|not provided [RCV002067762] Chr1:186166929 [GRCh38]
Chr1:186136061 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.109G>A (p.Glu37Lys) single nucleotide variant Age related macular degeneration 1 [RCV001101191]|not provided [RCV002554973] Chr1:185734888 [GRCh38]
Chr1:185704020 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.4896T>C (p.His1632=) single nucleotide variant Age related macular degeneration 1 [RCV001101500] Chr1:186015424 [GRCh38]
Chr1:185984556 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7929A>T (p.Arg2643Ser) single nucleotide variant Age related macular degeneration 1 [RCV001101699] Chr1:186069712 [GRCh38]
Chr1:186038844 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.-121A>G single nucleotide variant Age related macular degeneration 1 [RCV001101189] Chr1:185734659 [GRCh38]
Chr1:185703791 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.11054G>C (p.Gly3685Ala) single nucleotide variant Age related macular degeneration 1 [RCV001101905]|not provided [RCV001856388]|not specified [RCV004032082] Chr1:186112876 [GRCh38]
Chr1:186082008 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7677G>C (p.Lys2559Asn) single nucleotide variant Age related macular degeneration 1 [RCV001101697]|not provided [RCV001856380] Chr1:186065401 [GRCh38]
Chr1:186034533 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9223A>C (p.Thr3075Pro) single nucleotide variant Age related macular degeneration 1 [RCV001101789]|not provided [RCV003718317]|not specified [RCV004629453] Chr1:186087505 [GRCh38]
Chr1:186056637 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15127G>A (p.Val5043Ile) single nucleotide variant Age related macular degeneration 1 [RCV001102180]|not provided [RCV002556052] Chr1:186153858 [GRCh38]
Chr1:186122990 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1655C>A (p.Thr552Asn) single nucleotide variant Age related macular degeneration 1 [RCV001099294]|not provided [RCV001856347]|not specified [RCV004032049] Chr1:185933651 [GRCh38]
Chr1:185902783 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2670A>G (p.Pro890=) single nucleotide variant Age related macular degeneration 1 [RCV001095845] Chr1:185982269 [GRCh38]
Chr1:185951401 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4200+6T>C single nucleotide variant Age related macular degeneration 1 [RCV001095939]|not provided [RCV001856299] Chr1:186001434 [GRCh38]
Chr1:185970566 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5411G>A (p.Arg1804Gln) single nucleotide variant Age related macular degeneration 1 [RCV001096054]|not provided [RCV002554888] Chr1:186018293 [GRCh38]
Chr1:185987425 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.11404+11G>T single nucleotide variant Age related macular degeneration 1 [RCV001096469] Chr1:186114957 [GRCh38]
Chr1:186084089 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12455A>G (p.Asn4152Ser) single nucleotide variant Age related macular degeneration 1 [RCV001096576] Chr1:186123176 [GRCh38]
Chr1:186092308 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3437G>A (p.Gly1146Glu) single nucleotide variant Age related macular degeneration 1 [RCV001099409]|not provided [RCV002554938] Chr1:185993241 [GRCh38]
Chr1:185962373 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15320-7C>T single nucleotide variant Age related macular degeneration 1 [RCV001096768]|not provided [RCV002069631] Chr1:186166177 [GRCh38]
Chr1:186135309 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.7426+15T>A single nucleotide variant Age related macular degeneration 1 [RCV001099714] Chr1:186061979 [GRCh38]
Chr1:186031111 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.974G>A (p.Arg325Gln) single nucleotide variant Age related macular degeneration 1 [RCV001097531]|not provided [RCV002557987] Chr1:185922452 [GRCh38]
Chr1:185891584 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3245C>T (p.Ser1082Phe) single nucleotide variant Age related macular degeneration 1 [RCV001097645]|not provided [RCV003769051] Chr1:185990311 [GRCh38]
Chr1:185959443 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7345A>G (p.Met2449Val) single nucleotide variant Age related macular degeneration 1 [RCV001097926]|not provided [RCV001856323]|not specified [RCV004032033] Chr1:186061883 [GRCh38]
Chr1:186031015 [GRCh37]
Chr1:1q31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_031935.3(HMCN1):c.8600-14C>G single nucleotide variant Age related macular degeneration 1 [RCV001098022] Chr1:186081193 [GRCh38]
Chr1:186050325 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8652G>C (p.Val2884=) single nucleotide variant Age related macular degeneration 1 [RCV001098024] Chr1:186081259 [GRCh38]
Chr1:186050391 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9941C>T (p.Thr3314Met) single nucleotide variant Age related macular degeneration 1 [RCV001098114]|not provided [RCV002556002]|not specified [RCV004032036] Chr1:186093187 [GRCh38]
Chr1:186062319 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.8391T>C (p.Leu2797=) single nucleotide variant Age related macular degeneration 1 [RCV001098020]|not provided [RCV002069653] Chr1:186076528 [GRCh38]
Chr1:186045660 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.11797A>T (p.Asn3933Tyr) single nucleotide variant Age related macular degeneration 1 [RCV001098219]|not provided [RCV002069657] Chr1:186117572 [GRCh38]
Chr1:186086704 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12936A>G (p.Glu4312=) single nucleotide variant Age related macular degeneration 1 [RCV001098311] Chr1:186129997 [GRCh38]
Chr1:186099129 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14111C>T (p.Ala4704Val) single nucleotide variant Age related macular degeneration 1 [RCV001098414]|not provided [RCV001856331] Chr1:186144548 [GRCh38]
Chr1:186113680 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.15601C>T (p.Pro5201Ser) single nucleotide variant Age related macular degeneration 1 [RCV001100284] Chr1:186171363 [GRCh38]
Chr1:186140495 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15685A>G (p.Met5229Val) single nucleotide variant Age related macular degeneration 1 [RCV001100285]|not provided [RCV001856361]|not specified [RCV004032062] Chr1:186171447 [GRCh38]
Chr1:186140579 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.*689G>A single nucleotide variant Age related macular degeneration 1 [RCV001100407] Chr1:186190567 [GRCh38]
Chr1:186159699 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.295G>A (p.Asp99Asn) single nucleotide variant Age related macular degeneration 1 [RCV001101192] Chr1:185846052 [GRCh38]
Chr1:185815184 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6296G>A (p.Arg2099Gln) single nucleotide variant Age related macular degeneration 1 [RCV001101596]|not provided [RCV003769070] Chr1:186041128 [GRCh38]
Chr1:186010260 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6309G>A (p.Pro2103=) single nucleotide variant Age related macular degeneration 1 [RCV001101597]|not provided [RCV002554976] Chr1:186045692 [GRCh38]
Chr1:186014824 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.6564T>G (p.Asn2188Lys) single nucleotide variant Age related macular degeneration 1 [RCV001101599] Chr1:186048826 [GRCh38]
Chr1:186017958 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13582+11T>C single nucleotide variant Age related macular degeneration 1 [RCV001102091]|not provided [RCV002069708] Chr1:186136948 [GRCh38]
Chr1:186106080 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.15076C>T (p.Arg5026Trp) single nucleotide variant Age related macular degeneration 1 [RCV001102179]|not provided [RCV001354700]|not specified [RCV004032085] Chr1:186153807 [GRCh38]
Chr1:186122939 [GRCh37]
Chr1:1q31.1		 uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1 copy number loss not provided [RCV001005157] Chr1:177551193..199599056 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
NM_031935.3(HMCN1):c.*669A>G single nucleotide variant Age related macular degeneration 1 [RCV001100406] Chr1:186190547 [GRCh38]
Chr1:186159679 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1165T>C (p.Trp389Arg) single nucleotide variant Age related macular degeneration 1 [RCV001097533]|not provided [RCV002555998]|not specified [RCV004032025] Chr1:185923533 [GRCh38]
Chr1:185892665 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3276T>G (p.Leu1092=) single nucleotide variant Age related macular degeneration 1 [RCV001097646]|not provided [RCV002069649] Chr1:185990342 [GRCh38]
Chr1:185959474 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.11404+11G>A single nucleotide variant Age related macular degeneration 1 [RCV001101906]|not provided [RCV002069705] Chr1:186114957 [GRCh38]
Chr1:186084089 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.3811T>C (p.Tyr1271His) single nucleotide variant not provided [RCV001963944]|not specified [RCV004044695] Chr1:185997461 [GRCh38]
Chr1:185966593 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10230G>A (p.Val3410=) single nucleotide variant Age related macular degeneration 1 [RCV001098115] Chr1:186094309 [GRCh38]
Chr1:186063441 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14437+6C>T single nucleotide variant Age related macular degeneration 1 [RCV001098415] Chr1:186145579 [GRCh38]
Chr1:186114711 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11443G>A (p.Val3815Ile) single nucleotide variant Age related macular degeneration 1 [RCV001096470] Chr1:186115296 [GRCh38]
Chr1:186084428 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11531T>C (p.Leu3844Pro) single nucleotide variant Age related macular degeneration 1 [RCV001096471] Chr1:186115384 [GRCh38]
Chr1:186084516 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12649A>G (p.Thr4217Ala) single nucleotide variant Age related macular degeneration 1 [RCV001096578]|not provided [RCV001856305]|not specified [RCV004032010] Chr1:186125753 [GRCh38]
Chr1:186094885 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.*418A>G single nucleotide variant Age related macular degeneration 1 [RCV001100404] Chr1:186190296 [GRCh38]
Chr1:186159428 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.*588T>C single nucleotide variant Age related macular degeneration 1 [RCV001100405] Chr1:186190466 [GRCh38]
Chr1:186159598 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5327A>T (p.Asp1776Val) single nucleotide variant Age related macular degeneration 1 [RCV001096052] Chr1:186018209 [GRCh38]
Chr1:185987341 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5732T>C (p.Ile1911Thr) single nucleotide variant Age related macular degeneration 1 [RCV001096055]|not provided [RCV001856300]|not specified [RCV004032004] Chr1:186023136 [GRCh38]
Chr1:185992268 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.6309G>C (p.Pro2103=) single nucleotide variant Age related macular degeneration 1 [RCV001101598] Chr1:186045692 [GRCh38]
Chr1:186014824 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11011C>G (p.Leu3671Val) single nucleotide variant Age related macular degeneration 1 [RCV001101904]|not provided [RCV001856387] Chr1:186112833 [GRCh38]
Chr1:186081965 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.2369G>A (p.Gly790Asp) single nucleotide variant not provided [RCV002001603] Chr1:185970491 [GRCh38]
Chr1:185939623 [GRCh37]
Chr1:1q31.1		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_031935.3(HMCN1):c.14825G>T (p.Gly4942Val) single nucleotide variant not provided [RCV001357929] Chr1:186151672 [GRCh38]
Chr1:186120804 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15754T>C (p.Tyr5252His) single nucleotide variant not provided [RCV001357647] Chr1:186172071 [GRCh38]
Chr1:186141203 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13333G>A (p.Glu4445Lys) single nucleotide variant not provided [RCV001354574] Chr1:186136688 [GRCh38]
Chr1:186105820 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2656G>A (p.Gly886Arg) single nucleotide variant Age related macular degeneration 1 [RCV003450004]|not provided [RCV001357861]|not specified [RCV004034489] Chr1:185981067 [GRCh38]
Chr1:185950199 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15300A>G (p.Ser5100=) single nucleotide variant not provided [RCV003107154] Chr1:186165154 [GRCh38]
Chr1:186134286 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1553-7C>G single nucleotide variant HMCN1-related disorder [RCV003936698]|not provided [RCV003109120] Chr1:185933542 [GRCh38]
Chr1:185902674 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14524G>A (p.Asp4842Asn) single nucleotide variant not provided [RCV003109121] Chr1:186145839 [GRCh38]
Chr1:186114971 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14051G>C (p.Gly4684Ala) single nucleotide variant not provided [RCV003108374] Chr1:186144299 [GRCh38]
Chr1:186113431 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7685G>A (p.Ser2562Asn) single nucleotide variant not provided [RCV003108420] Chr1:186065409 [GRCh38]
Chr1:186034541 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.252G>A (p.Val84=) single nucleotide variant not provided [RCV003108787] Chr1:185735031 [GRCh38]
Chr1:185704163 [GRCh37]
Chr1:1q25.3		 likely benign
NM_031935.3(HMCN1):c.13797A>G (p.Thr4599=) single nucleotide variant not provided [RCV003108791] Chr1:186137845 [GRCh38]
Chr1:186106977 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13426C>G (p.Gln4476Glu) single nucleotide variant not specified [RCV004305722] Chr1:186136781 [GRCh38]
Chr1:186105913 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1939G>A (p.Val647Ile) single nucleotide variant not provided [RCV002044872]|not specified [RCV004038905] Chr1:185962628 [GRCh38]
Chr1:185931760 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7676A>G (p.Lys2559Arg) single nucleotide variant not provided [RCV001896534] Chr1:186065400 [GRCh38]
Chr1:186034532 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16063G>C (p.Ala5355Pro) single nucleotide variant not provided [RCV001896202] Chr1:186178535 [GRCh38]
Chr1:186147667 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2765G>A (p.Arg922His) single nucleotide variant not provided [RCV001970779] Chr1:185982364 [GRCh38]
Chr1:185951496 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.1624C>G (p.Leu542Val) single nucleotide variant not provided [RCV002040185] Chr1:185933620 [GRCh38]
Chr1:185902752 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16657C>T (p.Arg5553Trp) single nucleotide variant not provided [RCV001969870] Chr1:186189627 [GRCh38]
Chr1:186158759 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14054C>T (p.Ala4685Val) single nucleotide variant not provided [RCV001970833] Chr1:186144302 [GRCh38]
Chr1:186113434 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1900T>C (p.Ser634Pro) single nucleotide variant Age related macular degeneration 1 [RCV003456247]|not provided [RCV001864124]|not specified [RCV004039659] Chr1:185962589 [GRCh38]
Chr1:185931721 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13875T>G (p.Cys4625Trp) single nucleotide variant Age related macular degeneration 1 [RCV003456273]|not provided [RCV002024950]|not specified [RCV004046979] Chr1:186137923 [GRCh38]
Chr1:186107055 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12284C>T (p.Pro4095Leu) single nucleotide variant not provided [RCV001967288] Chr1:186123005 [GRCh38]
Chr1:186092137 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3947T>C (p.Ile1316Thr) single nucleotide variant not provided [RCV002025233] Chr1:186000117 [GRCh38]
Chr1:185969249 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15914G>A (p.Arg5305Gln) single nucleotide variant not provided [RCV001864131] Chr1:186174613 [GRCh38]
Chr1:186143745 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7910A>T (p.Gln2637Leu) single nucleotide variant not provided [RCV002008478] Chr1:186069693 [GRCh38]
Chr1:186038825 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16511C>T (p.Pro5504Leu) single nucleotide variant not provided [RCV001983387] Chr1:186187979 [GRCh38]
Chr1:186157111 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5137G>A (p.Val1713Met) single nucleotide variant Age related macular degeneration 1 [RCV003452106]|not provided [RCV001896755]|not specified [RCV004041763] Chr1:186016185 [GRCh38]
Chr1:185985317 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13441_13442delinsAA (p.Ser4481Asn) indel not provided [RCV001913778] Chr1:186136796..186136797 [GRCh38]
Chr1:186105928..186105929 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9841C>T (p.Leu3281Phe) single nucleotide variant not provided [RCV002009288]|not specified [RCV004046197] Chr1:186090871 [GRCh38]
Chr1:186060003 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11362G>A (p.Ala3788Thr) single nucleotide variant not provided [RCV001988754] Chr1:186114904 [GRCh38]
Chr1:186084036 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4892T>G (p.Phe1631Cys) single nucleotide variant Age related macular degeneration 1 [RCV003452055]|not provided [RCV001892517]|not specified [RCV004041287] Chr1:186015420 [GRCh38]
Chr1:185984552 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11507A>G (p.Asn3836Ser) single nucleotide variant not provided [RCV001970898]|not specified [RCV004042241] Chr1:186115360 [GRCh38]
Chr1:186084492 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.514A>T (p.Thr172Ser) single nucleotide variant not provided [RCV001914700] Chr1:185865756 [GRCh38]
Chr1:185834888 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7445G>A (p.Gly2482Asp) single nucleotide variant not provided [RCV001915078] Chr1:186062532 [GRCh38]
Chr1:186031664 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4127A>C (p.Gln1376Pro) single nucleotide variant not provided [RCV001872909] Chr1:186001355 [GRCh38]
Chr1:185970487 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9609G>T (p.Leu3203Phe) single nucleotide variant not provided [RCV002008356] Chr1:186088637 [GRCh38]
Chr1:186057769 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12230-3T>C single nucleotide variant not provided [RCV001929788] Chr1:186122948 [GRCh38]
Chr1:186092080 [GRCh37]
Chr1:1q31.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_031935.3(HMCN1):c.8348A>G (p.Asn2783Ser) single nucleotide variant not provided [RCV002024892] Chr1:186076485 [GRCh38]
Chr1:186045617 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1589C>G (p.Thr530Arg) single nucleotide variant not provided [RCV001964827] Chr1:185933585 [GRCh38]
Chr1:185902717 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13874G>A (p.Cys4625Tyr) single nucleotide variant not provided [RCV001927393] Chr1:186137922 [GRCh38]
Chr1:186107054 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1856A>G (p.Lys619Arg) single nucleotide variant not provided [RCV002045194] Chr1:185962545 [GRCh38]
Chr1:185931677 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3731C>T (p.Thr1244Ile) single nucleotide variant not provided [RCV001988517] Chr1:185995040 [GRCh38]
Chr1:185964172 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6699A>G (p.Lys2233=) single nucleotide variant not provided [RCV001928318] Chr1:186053073 [GRCh38]
Chr1:186022205 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9887+4T>G single nucleotide variant HMCN1-related disorder [RCV003923380]|not provided [RCV001949000] Chr1:186090921 [GRCh38]
Chr1:186060053 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.7156A>G (p.Ile2386Val) single nucleotide variant Age related macular degeneration 1 [RCV003451988]|not provided [RCV001863662]|not specified [RCV004038976] Chr1:186057245 [GRCh38]
Chr1:186026377 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10634del (p.Pro3545fs) deletion not provided [RCV002002597] Chr1:186103530 [GRCh38]
Chr1:186072662 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6421G>A (p.Gly2141Ser) single nucleotide variant not provided [RCV001970892] Chr1:186045804 [GRCh38]
Chr1:186014936 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2819G>A (p.Arg940His) single nucleotide variant not provided [RCV002039295] Chr1:185984197 [GRCh38]
Chr1:185953329 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.793+3G>A single nucleotide variant not provided [RCV001890562] Chr1:185909511 [GRCh38]
Chr1:185878643 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15018+14A>G single nucleotide variant not provided [RCV002008062] Chr1:186152885 [GRCh38]
Chr1:186122017 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.15467A>G (p.His5156Arg) single nucleotide variant Age related macular degeneration 1 [RCV003456254]|not provided [RCV001896148]|not specified [RCV004041451] Chr1:186166835 [GRCh38]
Chr1:186135967 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1886T>C (p.Val629Ala) single nucleotide variant not provided [RCV001863837] Chr1:185962575 [GRCh38]
Chr1:185931707 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16612C>T (p.Leu5538Phe) single nucleotide variant Age related macular degeneration 1 [RCV003452198]|not provided [RCV001948518]|not specified [RCV004041988] Chr1:186189582 [GRCh38]
Chr1:186158714 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13190G>A (p.Arg4397Gln) single nucleotide variant not provided [RCV001872702] Chr1:186130657 [GRCh38]
Chr1:186099789 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10592G>A (p.Gly3531Glu) single nucleotide variant not provided [RCV001950167]|not specified [RCV004041911] Chr1:186103490 [GRCh38]
Chr1:186072622 [GRCh37]
Chr1:1q31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_031935.3(HMCN1):c.900+4C>T single nucleotide variant not provided [RCV001896866] Chr1:185911784 [GRCh38]
Chr1:185880916 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4546C>T (p.Arg1516Trp) single nucleotide variant not provided [RCV001911449] Chr1:186007198 [GRCh38]
Chr1:185976330 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12377G>A (p.Arg4126His) single nucleotide variant not provided [RCV001911466]|not specified [RCV004041761] Chr1:186123098 [GRCh38]
Chr1:186092230 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) copy number loss not specified [RCV002053780] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
NM_031935.3(HMCN1):c.5241G>T (p.Met1747Ile) single nucleotide variant Age related macular degeneration 1 [RCV003453841]|not provided [RCV002004864]|not specified [RCV004043960] Chr1:186017012 [GRCh38]
Chr1:185986144 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1396A>T (p.Asn466Tyr) single nucleotide variant not provided [RCV001968617] Chr1:185925157 [GRCh38]
Chr1:185894289 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15043A>G (p.Thr5015Ala) single nucleotide variant Age related macular degeneration 1 [RCV003453810]|not provided [RCV001946454]|not specified [RCV004042963] Chr1:186153774 [GRCh38]
Chr1:186122906 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2261T>G (p.Leu754Trp) single nucleotide variant Age related macular degeneration 1 [RCV003456263]|not provided [RCV001984614]|not specified [RCV004042131] Chr1:185970383 [GRCh38]
Chr1:185939515 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5325T>A (p.Ile1775=) single nucleotide variant HMCN1-related disorder [RCV003923362]|not provided [RCV001909655] Chr1:186018207 [GRCh38]
Chr1:185987339 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6358G>A (p.Ala2120Thr) single nucleotide variant not provided [RCV001910015] Chr1:186045741 [GRCh38]
Chr1:186014873 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4201-9C>A single nucleotide variant not provided [RCV001891186] Chr1:186001585 [GRCh38]
Chr1:185970717 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10716G>A (p.Thr3572=) single nucleotide variant not provided [RCV001983246] Chr1:186103614 [GRCh38]
Chr1:186072746 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.11231T>A (p.Ile3744Lys) single nucleotide variant Age related macular degeneration 1 [RCV003452083]|not provided [RCV001891520]|not specified [RCV004041579] Chr1:186114078 [GRCh38]
Chr1:186083210 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6181-3T>C single nucleotide variant not provided [RCV001909480] Chr1:186041010 [GRCh38]
Chr1:186010142 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2138_2147del (p.Val713fs) deletion not provided [RCV001893123] Chr1:185965836..185965845 [GRCh38]
Chr1:185934968..185934977 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3874+5G>A single nucleotide variant not provided [RCV002004319] Chr1:185997529 [GRCh38]
Chr1:185966661 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.8650G>A (p.Val2884Met) single nucleotide variant not provided [RCV001908169] Chr1:186081257 [GRCh38]
Chr1:186050389 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15499A>G (p.Thr5167Ala) single nucleotide variant not provided [RCV001964751] Chr1:186166867 [GRCh38]
Chr1:186135999 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.6308C>T (p.Pro2103Leu) single nucleotide variant not provided [RCV001967869] Chr1:186045691 [GRCh38]
Chr1:186014823 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4564C>T (p.Arg1522Cys) single nucleotide variant not provided [RCV001964897] Chr1:186007216 [GRCh38]
Chr1:185976348 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10903C>T (p.Arg3635Trp) single nucleotide variant HMCN1-related disorder [RCV004731209]|not provided [RCV001985477] Chr1:186108511 [GRCh38]
Chr1:186077643 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.14150G>A (p.Gly4717Glu) single nucleotide variant not provided [RCV001945978] Chr1:186144587 [GRCh38]
Chr1:186113719 [GRCh37]
Chr1:1q31.1		 uncertain significance
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758) copy number loss not specified [RCV002053736] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3		 pathogenic
NM_031935.3(HMCN1):c.14315C>T (p.Thr4772Met) single nucleotide variant not provided [RCV001926801] Chr1:186145451 [GRCh38]
Chr1:186114583 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6933C>T (p.Ser2311=) single nucleotide variant not provided [RCV001985217] Chr1:186055463 [GRCh38]
Chr1:186024595 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2304C>T (p.Gly768=) single nucleotide variant not provided [RCV001909415] Chr1:185970426 [GRCh38]
Chr1:185939558 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265) copy number loss not specified [RCV002053769] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
NM_031935.3(HMCN1):c.16532C>G (p.Pro5511Arg) single nucleotide variant not provided [RCV001985647] Chr1:186188000 [GRCh38]
Chr1:186157132 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16522C>A (p.Gln5508Lys) single nucleotide variant not provided [RCV001892632] Chr1:186187990 [GRCh38]
Chr1:186157122 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9385G>A (p.Val3129Ile) single nucleotide variant not provided [RCV001889660] Chr1:186087953 [GRCh38]
Chr1:186057085 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13770G>A (p.Ser4590=) single nucleotide variant not provided [RCV001964587] Chr1:186137818 [GRCh38]
Chr1:186106950 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.15575-1G>A single nucleotide variant not provided [RCV001965670] Chr1:186171336 [GRCh38]
Chr1:186140468 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14467T>C (p.Trp4823Arg) single nucleotide variant not provided [RCV001947690] Chr1:186145782 [GRCh38]
Chr1:186114914 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13327A>T (p.Thr4443Ser) single nucleotide variant not provided [RCV001895600]|not specified [RCV004041309] Chr1:186136682 [GRCh38]
Chr1:186105814 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.14635G>A (p.Val4879Ile) single nucleotide variant not provided [RCV002003630]|not specified [RCV004045199] Chr1:186151226 [GRCh38]
Chr1:186120358 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8631T>A (p.Asp2877Glu) single nucleotide variant not provided [RCV001927114] Chr1:186081238 [GRCh38]
Chr1:186050370 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4279G>A (p.Gly1427Arg) single nucleotide variant not provided [RCV002007854] Chr1:186001672 [GRCh38]
Chr1:185970804 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6480+4A>T single nucleotide variant not provided [RCV001984886] Chr1:186045867 [GRCh38]
Chr1:186014999 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10073C>T (p.Thr3358Ile) single nucleotide variant not provided [RCV001984222] Chr1:186093546 [GRCh38]
Chr1:186062678 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7867C>A (p.Arg2623Ser) single nucleotide variant not provided [RCV001947874] Chr1:186067995 [GRCh38]
Chr1:186037127 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10033A>G (p.Asn3345Asp) single nucleotide variant not provided [RCV001927289] Chr1:186093506 [GRCh38]
Chr1:186062638 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3465T>G (p.Ile1155Met) single nucleotide variant not provided [RCV001986086] Chr1:185993269 [GRCh38]
Chr1:185962401 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8470G>A (p.Val2824Ile) single nucleotide variant not provided [RCV001946314] Chr1:186076607 [GRCh38]
Chr1:186045739 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9157T>C (p.Tyr3053His) single nucleotide variant Age related macular degeneration 1 [RCV003453953]|not provided [RCV002004175]|not specified [RCV004046155] Chr1:186087327 [GRCh38]
Chr1:186056459 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14229T>A (p.Asp4743Glu) single nucleotide variant not provided [RCV001969938] Chr1:186144666 [GRCh38]
Chr1:186113798 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7333A>T (p.Met2445Leu) single nucleotide variant not provided [RCV001914020] Chr1:186061871 [GRCh38]
Chr1:186031003 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8543G>A (p.Cys2848Tyr) single nucleotide variant not provided [RCV001914034] Chr1:186078164 [GRCh38]
Chr1:186047296 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9170G>A (p.Ser3057Asn) single nucleotide variant not provided [RCV001913387] Chr1:186087452 [GRCh38]
Chr1:186056584 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13214C>T (p.Ala4405Val) single nucleotide variant not provided [RCV001894754] Chr1:186130681 [GRCh38]
Chr1:186099813 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5974G>A (p.Val1992Met) single nucleotide variant not provided [RCV001928599] Chr1:186038951 [GRCh38]
Chr1:186008083 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.6744A>T (p.Leu2248Phe) single nucleotide variant not provided [RCV001892956] Chr1:186053868 [GRCh38]
Chr1:186023000 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7859G>A (p.Arg2620Gln) single nucleotide variant not provided [RCV002040828] Chr1:186067987 [GRCh38]
Chr1:186037119 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13001T>C (p.Val4334Ala) single nucleotide variant not provided [RCV002022038] Chr1:186130062 [GRCh38]
Chr1:186099194 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13660C>T (p.Arg4554Cys) single nucleotide variant not provided [RCV002006881] Chr1:186137575 [GRCh38]
Chr1:186106707 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13909A>G (p.Ile4637Val) single nucleotide variant not provided [RCV002044080]|not specified [RCV004038785] Chr1:186137957 [GRCh38]
Chr1:186107089 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4940C>T (p.Thr1647Met) single nucleotide variant not provided [RCV001913806] Chr1:186015988 [GRCh38]
Chr1:185985120 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1525C>T (p.Arg509Trp) single nucleotide variant not provided [RCV002004538] Chr1:185928640 [GRCh38]
Chr1:185897772 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14926C>T (p.Arg4976Trp) single nucleotide variant not provided [RCV001984637] Chr1:186152779 [GRCh38]
Chr1:186121911 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7160T>C (p.Ile2387Thr) single nucleotide variant Age related macular degeneration 1 [RCV003453838]|not provided [RCV002004619]|not specified [RCV004043924] Chr1:186057249 [GRCh38]
Chr1:186026381 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10363A>G (p.Met3455Val) single nucleotide variant not provided [RCV001928355] Chr1:186095311 [GRCh38]
Chr1:186064443 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14491G>A (p.Gly4831Arg) single nucleotide variant not provided [RCV001987423] Chr1:186145806 [GRCh38]
Chr1:186114938 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.7546_7547delinsAT (p.Asp2516Ile) indel not provided [RCV001928680] Chr1:186065270..186065271 [GRCh38]
Chr1:186034402..186034403 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11905G>T (p.Ala3969Ser) single nucleotide variant not provided [RCV003852775] Chr1:186119247 [GRCh38]
Chr1:186088379 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15755A>G (p.Tyr5252Cys) single nucleotide variant not provided [RCV001871449]|not specified [RCV004041373] Chr1:186172072 [GRCh38]
Chr1:186141204 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1683A>C (p.Arg561Ser) single nucleotide variant not provided [RCV001912374] Chr1:185933679 [GRCh38]
Chr1:185902811 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10997C>G (p.Pro3666Arg) single nucleotide variant not provided [RCV001894479] Chr1:186112819 [GRCh38]
Chr1:186081951 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2734A>G (p.Thr912Ala) single nucleotide variant not provided [RCV002003437] Chr1:185982333 [GRCh38]
Chr1:185951465 [GRCh37]
Chr1:1q31.1		 uncertain significance
GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1 copy number loss not provided [RCV001836604] Chr1:178522021..190322133 [GRCh37]
Chr1:1q25.2-31.1		 pathogenic
NM_031935.3(HMCN1):c.302A>G (p.Lys101Arg) single nucleotide variant not provided [RCV001890539] Chr1:185846059 [GRCh38]
Chr1:185815191 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6967A>T (p.Thr2323Ser) single nucleotide variant not provided [RCV002020961] Chr1:186055497 [GRCh38]
Chr1:186024629 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.706T>C (p.Trp236Arg) single nucleotide variant not provided [RCV002005734] Chr1:185909421 [GRCh38]
Chr1:185878553 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1355C>T (p.Ser452Phe) single nucleotide variant not provided [RCV002041165] Chr1:185925116 [GRCh38]
Chr1:185894248 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2266C>T (p.Leu756Phe) single nucleotide variant Age related macular degeneration 1 [RCV003453907]|not provided [RCV001969373]|not specified [RCV004042215] Chr1:185970388 [GRCh38]
Chr1:185939520 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7153A>G (p.Ser2385Gly) single nucleotide variant not provided [RCV001982808]|not specified [RCV004631859] Chr1:186057242 [GRCh38]
Chr1:186026374 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3523C>G (p.Arg1175Gly) single nucleotide variant not provided [RCV001985831] Chr1:185994832 [GRCh38]
Chr1:185963964 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11377C>T (p.Arg3793Cys) single nucleotide variant not provided [RCV002004818] Chr1:186114919 [GRCh38]
Chr1:186084051 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2341G>A (p.Ala781Thr) single nucleotide variant not provided [RCV002022663]|not specified [RCV004046065] Chr1:185970463 [GRCh38]
Chr1:185939595 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11317G>A (p.Ala3773Thr) single nucleotide variant not provided [RCV001985182] Chr1:186114859 [GRCh38]
Chr1:186083991 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2411T>C (p.Met804Thr) single nucleotide variant not provided [RCV002042656] Chr1:185977826 [GRCh38]
Chr1:185946958 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.856G>A (p.Val286Ile) single nucleotide variant Age related macular degeneration 1 [RCV003456270]|not provided [RCV002022548]|not specified [RCV004046053] Chr1:185911736 [GRCh38]
Chr1:185880868 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4624A>G (p.Ile1542Val) single nucleotide variant not provided [RCV002003658]|not specified [RCV004045202] Chr1:186007276 [GRCh38]
Chr1:185976408 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.6197G>A (p.Arg2066Gln) single nucleotide variant not provided [RCV001983952]|not specified [RCV004045386] Chr1:186041029 [GRCh38]
Chr1:186010161 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.407G>T (p.Gly136Val) single nucleotide variant not provided [RCV001947818] Chr1:185864537 [GRCh38]
Chr1:185833669 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3805C>A (p.Pro1269Thr) single nucleotide variant not provided [RCV001964965] Chr1:185997455 [GRCh38]
Chr1:185966587 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13348G>A (p.Val4450Ile) single nucleotide variant not provided [RCV001984234] Chr1:186136703 [GRCh38]
Chr1:186105835 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5651A>T (p.Gln1884Leu) single nucleotide variant not provided [RCV002040704] Chr1:186023055 [GRCh38]
Chr1:185992187 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.2575G>T (p.Ala859Ser) single nucleotide variant not provided [RCV002002922] Chr1:185980986 [GRCh38]
Chr1:185950118 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15167T>C (p.Val5056Ala) single nucleotide variant not provided [RCV001966484] Chr1:186153898 [GRCh38]
Chr1:186123030 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2276T>G (p.Ile759Ser) single nucleotide variant not provided [RCV002041290] Chr1:185970398 [GRCh38]
Chr1:185939530 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6974C>T (p.Thr2325Ile) single nucleotide variant Age related macular degeneration 1 [RCV003456259]|not provided [RCV001909416]|not specified [RCV004042771] Chr1:186055504 [GRCh38]
Chr1:186024636 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.824A>C (p.His275Pro) single nucleotide variant not provided [RCV002038846] Chr1:185911704 [GRCh38]
Chr1:185880836 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13045_13046delinsGT (p.Pro4349Val) indel not provided [RCV001884282] Chr1:186130512..186130513 [GRCh38]
Chr1:186099644..186099645 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6753C>T (p.Gly2251=) single nucleotide variant not provided [RCV001944490] Chr1:186053877 [GRCh38]
Chr1:186023009 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.7477G>C (p.Glu2493Gln) single nucleotide variant not provided [RCV001888529] Chr1:186062564 [GRCh38]
Chr1:186031696 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8599G>C (p.Val2867Leu) single nucleotide variant not provided [RCV002029672] Chr1:186078220 [GRCh38]
Chr1:186047352 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7513+4T>C single nucleotide variant not provided [RCV001943229] Chr1:186062604 [GRCh38]
Chr1:186031736 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13940G>A (p.Ser4647Asn) single nucleotide variant not provided [RCV001961691] Chr1:186144188 [GRCh38]
Chr1:186113320 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11378G>A (p.Arg3793His) single nucleotide variant not provided [RCV002011882] Chr1:186114920 [GRCh38]
Chr1:186084052 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9249G>A (p.Ser3083=) single nucleotide variant not provided [RCV001905359] Chr1:186087531 [GRCh38]
Chr1:186056663 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15527G>T (p.Arg5176Leu) single nucleotide variant not provided [RCV001959367] Chr1:186166895 [GRCh38]
Chr1:186136027 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9314A>G (p.His3105Arg) single nucleotide variant not provided [RCV001906997] Chr1:186087596 [GRCh38]
Chr1:186056728 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3307G>A (p.Val1103Met) single nucleotide variant Age related macular degeneration 1 [RCV003452021]|not provided [RCV001961826]|not specified [RCV004039923] Chr1:185990373 [GRCh38]
Chr1:185959505 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12230-8T>C single nucleotide variant not provided [RCV002038097] Chr1:186122943 [GRCh38]
Chr1:186092075 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.14113A>G (p.Thr4705Ala) single nucleotide variant not provided [RCV001924901]|not specified [RCV004041338] Chr1:186144550 [GRCh38]
Chr1:186113682 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10380T>G (p.Asp3460Glu) single nucleotide variant not provided [RCV001906206] Chr1:186095328 [GRCh38]
Chr1:186064460 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6140A>G (p.Lys2047Arg) single nucleotide variant not provided [RCV001884928] Chr1:186039839 [GRCh38]
Chr1:186008971 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10532A>G (p.Glu3511Gly) single nucleotide variant HMCN1-related disorder [RCV003948876]|not provided [RCV002048487] Chr1:186095480 [GRCh38]
Chr1:186064612 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.7711C>G (p.Pro2571Ala) single nucleotide variant not provided [RCV001980481] Chr1:186067839 [GRCh38]
Chr1:186036971 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4405C>T (p.Arg1469Cys) single nucleotide variant not provided [RCV001905706] Chr1:186003774 [GRCh38]
Chr1:185972906 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1207C>G (p.Leu403Val) single nucleotide variant not provided [RCV001961982] Chr1:185923575 [GRCh38]
Chr1:185892707 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9452C>A (p.Pro3151His) single nucleotide variant not provided [RCV002000927]|not specified [RCV004631901] Chr1:186088151 [GRCh38]
Chr1:186057283 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7720G>A (p.Ala2574Thr) single nucleotide variant not provided [RCV001941433] Chr1:186067848 [GRCh38]
Chr1:186036980 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10187A>C (p.Gln3396Pro) single nucleotide variant not provided [RCV001886871] Chr1:186093660 [GRCh38]
Chr1:186062792 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3441G>T (p.Met1147Ile) single nucleotide variant not provided [RCV001888696] Chr1:185993245 [GRCh38]
Chr1:185962377 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11933G>A (p.Arg3978Gln) single nucleotide variant not provided [RCV002017094] Chr1:186119275 [GRCh38]
Chr1:186088407 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8126A>T (p.Tyr2709Phe) single nucleotide variant not provided [RCV002016724] Chr1:186070744 [GRCh38]
Chr1:186039876 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9578-6C>A single nucleotide variant not provided [RCV002039106] Chr1:186088600 [GRCh38]
Chr1:186057732 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.16894G>A (p.Ala5632Thr) single nucleotide variant not provided [RCV001941383] Chr1:186189864 [GRCh38]
Chr1:186158996 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7451dup (p.Asn2484fs) duplication not provided [RCV001901096] Chr1:186062534..186062535 [GRCh38]
Chr1:186031666..186031667 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7513+1_7513+7dup duplication not provided [RCV001982485] Chr1:186062599..186062600 [GRCh38]
Chr1:186031731..186031732 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.16048G>A (p.Asp5350Asn) single nucleotide variant not provided [RCV001962214] Chr1:186178520 [GRCh38]
Chr1:186147652 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4850C>T (p.Thr1617Met) single nucleotide variant not provided [RCV002037478]|not specified [RCV004038727] Chr1:186015378 [GRCh38]
Chr1:185984510 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.4178T>C (p.Met1393Thr) single nucleotide variant not provided [RCV002038412] Chr1:186001406 [GRCh38]
Chr1:185970538 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2764C>A (p.Arg922Ser) single nucleotide variant not provided [RCV001930824] Chr1:185982363 [GRCh38]
Chr1:185951495 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13248C>A (p.Asp4416Glu) single nucleotide variant not provided [RCV001932145] Chr1:186132345 [GRCh38]
Chr1:186101477 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13240G>A (p.Ala4414Thr) single nucleotide variant not provided [RCV001888414] Chr1:186132337 [GRCh38]
Chr1:186101469 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11935C>T (p.His3979Tyr) single nucleotide variant not provided [RCV001979095] Chr1:186119277 [GRCh38]
Chr1:186088409 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14465G>A (p.Ser4822Asn) single nucleotide variant not provided [RCV001937538] Chr1:186145780 [GRCh38]
Chr1:186114912 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2959CAG[3] (p.Gln988dup) microsatellite not provided [RCV001952944] Chr1:185987453..185987454 [GRCh38]
Chr1:185956585..185956586 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4728G>A (p.Met1576Ile) single nucleotide variant not provided [RCV001877523] Chr1:186015256 [GRCh38]
Chr1:185984388 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16010T>G (p.Phe5337Cys) single nucleotide variant not provided [RCV002030866] Chr1:186178482 [GRCh38]
Chr1:186147614 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11191G>T (p.Val3731Leu) single nucleotide variant not provided [RCV002033515] Chr1:186114038 [GRCh38]
Chr1:186083170 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.697G>C (p.Val233Leu) single nucleotide variant not provided [RCV001951728] Chr1:185909412 [GRCh38]
Chr1:185878544 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8813T>C (p.Ile2938Thr) single nucleotide variant not provided [RCV002049290] Chr1:186082890 [GRCh38]
Chr1:186052022 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9127G>A (p.Glu3043Lys) single nucleotide variant Age related macular degeneration 1 [RCV003452123]|not provided [RCV001901732]|not specified [RCV004042627] Chr1:186087297 [GRCh38]
Chr1:186056429 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16420G>A (p.Asp5474Asn) single nucleotide variant not provided [RCV002013004] Chr1:186187888 [GRCh38]
Chr1:186157020 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8814C>T (p.Ile2938=) single nucleotide variant not provided [RCV001877639] Chr1:186082891 [GRCh38]
Chr1:186052023 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1297G>A (p.Val433Ile) single nucleotide variant not provided [RCV001919483] Chr1:185925058 [GRCh38]
Chr1:185894190 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14140G>A (p.Val4714Met) single nucleotide variant not provided [RCV001978657] Chr1:186144577 [GRCh38]
Chr1:186113709 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.12510G>C (p.Arg4170Ser) single nucleotide variant not provided [RCV001919395] Chr1:186125614 [GRCh38]
Chr1:186094746 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8965T>C (p.Ser2989Pro) single nucleotide variant not provided [RCV001920792] Chr1:186086326 [GRCh38]
Chr1:186055458 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5530G>A (p.Val1844Ile) single nucleotide variant not provided [RCV001921902]|not specified [RCV004041223] Chr1:186019600 [GRCh38]
Chr1:185988732 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.7313-5T>G single nucleotide variant not provided [RCV001995129] Chr1:186061846 [GRCh38]
Chr1:186030978 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2162T>C (p.Met721Thr) single nucleotide variant not provided [RCV001974357] Chr1:185965865 [GRCh38]
Chr1:185934997 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16526G>A (p.Arg5509Gln) single nucleotide variant Age related macular degeneration 1 [RCV003452087]|not provided [RCV001903311]|not specified [RCV004041618] Chr1:186187994 [GRCh38]
Chr1:186157126 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16498G>A (p.Asp5500Asn) single nucleotide variant not provided [RCV001937209] Chr1:186187966 [GRCh38]
Chr1:186157098 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7598G>A (p.Arg2533His) single nucleotide variant not provided [RCV002047343] Chr1:186065322 [GRCh38]
Chr1:186034454 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14555C>G (p.Pro4852Arg) single nucleotide variant not provided [RCV001934265] Chr1:186145870 [GRCh38]
Chr1:186115002 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8341G>A (p.Gly2781Ser) single nucleotide variant not provided [RCV001975929] Chr1:186076478 [GRCh38]
Chr1:186045610 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14993A>G (p.Gln4998Arg) single nucleotide variant not provided [RCV001878060] Chr1:186152846 [GRCh38]
Chr1:186121978 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14591A>G (p.Asn4864Ser) single nucleotide variant not provided [RCV001869904] Chr1:186145906 [GRCh38]
Chr1:186115038 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5362C>T (p.Arg1788Cys) single nucleotide variant not provided [RCV001957998] Chr1:186018244 [GRCh38]
Chr1:185987376 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3354G>T (p.Gln1118His) single nucleotide variant not provided [RCV001877101] Chr1:185990420 [GRCh38]
Chr1:185959552 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9973G>A (p.Ala3325Thr) single nucleotide variant not provided [RCV002011351] Chr1:186093219 [GRCh38]
Chr1:186062351 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16028C>A (p.Pro5343Gln) single nucleotide variant not provided [RCV001917433] Chr1:186178500 [GRCh38]
Chr1:186147632 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7145C>T (p.Ala2382Val) single nucleotide variant not provided [RCV001900069]|not specified [RCV004039795] Chr1:186057234 [GRCh38]
Chr1:186026366 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.5741A>G (p.His1914Arg) single nucleotide variant not provided [RCV002027931] Chr1:186023145 [GRCh38]
Chr1:185992277 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14718A>C (p.Arg4906Ser) single nucleotide variant not provided [RCV002026551] Chr1:186151309 [GRCh38]
Chr1:186120441 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15419C>T (p.Ala5140Val) single nucleotide variant not provided [RCV001867033] Chr1:186166283 [GRCh38]
Chr1:186135415 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5300+7G>A single nucleotide variant not provided [RCV001936244] Chr1:186017078 [GRCh38]
Chr1:185986210 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15109T>C (p.Tyr5037His) single nucleotide variant Age related macular degeneration 1 [RCV003452051]|not provided [RCV001897628]|not specified [RCV004041261] Chr1:186153840 [GRCh38]
Chr1:186122972 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10403C>G (p.Ala3468Gly) single nucleotide variant Age related macular degeneration 1 [RCV003452122]|not provided [RCV001898958]|not specified [RCV004042609] Chr1:186095351 [GRCh38]
Chr1:186064483 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14185G>A (p.Asp4729Asn) single nucleotide variant not provided [RCV001973828]|not specified [RCV004616925] Chr1:186144622 [GRCh38]
Chr1:186113754 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6863-3C>T single nucleotide variant not provided [RCV002012905] Chr1:186055390 [GRCh38]
Chr1:186024522 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4865A>G (p.Asn1622Ser) single nucleotide variant not provided [RCV001980520] Chr1:186015393 [GRCh38]
Chr1:185984525 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4468G>A (p.Asp1490Asn) single nucleotide variant not provided [RCV001989629] Chr1:186003837 [GRCh38]
Chr1:185972969 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4360A>G (p.Ile1454Val) single nucleotide variant not provided [RCV001917797] Chr1:186003729 [GRCh38]
Chr1:185972861 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7978G>A (p.Glu2660Lys) single nucleotide variant not provided [RCV001886327] Chr1:186069761 [GRCh38]
Chr1:186038893 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12290C>T (p.Thr4097Met) single nucleotide variant not provided [RCV001906947] Chr1:186123011 [GRCh38]
Chr1:186092143 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12148C>T (p.Arg4050Ter) single nucleotide variant not provided [RCV001951921] Chr1:186120064 [GRCh38]
Chr1:186089196 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8777G>A (p.Arg2926Gln) single nucleotide variant not provided [RCV002029604] Chr1:186081384 [GRCh38]
Chr1:186050516 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14183C>T (p.Ser4728Phe) single nucleotide variant not provided [RCV001898015] Chr1:186144620 [GRCh38]
Chr1:186113752 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9034C>A (p.Leu3012Ile) single nucleotide variant not provided [RCV001989986] Chr1:186086395 [GRCh38]
Chr1:186055527 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.437G>A (p.Arg146Gln) single nucleotide variant HMCN1-related disorder [RCV003948826]|not provided [RCV001931327] Chr1:185864567 [GRCh38]
Chr1:185833699 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.1837A>G (p.Lys613Glu) single nucleotide variant not provided [RCV001937963] Chr1:185962526 [GRCh38]
Chr1:185931658 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15505G>C (p.Gly5169Arg) single nucleotide variant not provided [RCV002033805] Chr1:186166873 [GRCh38]
Chr1:186136005 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15212T>G (p.Ile5071Arg) single nucleotide variant Age related macular degeneration 1 [RCV003452146]|HMCN1-related disorder [RCV003968630]|not provided [RCV001925803] Chr1:186153943 [GRCh38]
Chr1:186123075 [GRCh37]
Chr1:1q31.1		 benign|likely benign|uncertain significance
NM_031935.3(HMCN1):c.5546T>A (p.Ile1849Lys) single nucleotide variant Age related macular degeneration 1 [RCV003456262]|not provided [RCV001982324]|not specified [RCV004042107] Chr1:186019616 [GRCh38]
Chr1:185988748 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12804C>T (p.Asp4268=) single nucleotide variant not provided [RCV001940885] Chr1:186128191 [GRCh38]
Chr1:186097323 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15026C>G (p.Thr5009Arg) single nucleotide variant not provided [RCV001961547] Chr1:186153757 [GRCh38]
Chr1:186122889 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16499A>T (p.Asp5500Val) single nucleotide variant not provided [RCV001900830] Chr1:186187967 [GRCh38]
Chr1:186157099 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11447T>A (p.Ile3816Lys) single nucleotide variant not provided [RCV001881521] Chr1:186115300 [GRCh38]
Chr1:186084432 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1791T>A (p.Gly597=) single nucleotide variant not provided [RCV001960508] Chr1:185933787 [GRCh38]
Chr1:185902919 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13346C>T (p.Thr4449Ile) single nucleotide variant not provided [RCV001925872] Chr1:186136701 [GRCh38]
Chr1:186105833 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1144C>T (p.His382Tyr) single nucleotide variant not provided [RCV002019079] Chr1:185923512 [GRCh38]
Chr1:185892644 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11808A>T (p.Arg3936Ser) single nucleotide variant not provided [RCV001940000] Chr1:186117583 [GRCh38]
Chr1:186086715 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12163A>G (p.Thr4055Ala) single nucleotide variant not provided [RCV001973490] Chr1:186120079 [GRCh38]
Chr1:186089211 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5171A>G (p.Lys1724Arg) single nucleotide variant not provided [RCV001864950] Chr1:186016219 [GRCh38]
Chr1:185985351 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10464A>T (p.Gly3488=) single nucleotide variant not provided [RCV001881753] Chr1:186095412 [GRCh38]
Chr1:186064544 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3759_3760del (p.Glu1253fs) microsatellite not provided [RCV002026357] Chr1:185995065..185995066 [GRCh38]
Chr1:185964197..185964198 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6500A>G (p.Gln2167Arg) single nucleotide variant not provided [RCV002047626] Chr1:186048762 [GRCh38]
Chr1:186017894 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12906C>G (p.Ala4302=) single nucleotide variant not provided [RCV001939447] Chr1:186129967 [GRCh38]
Chr1:186099099 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6335A>G (p.Asn2112Ser) single nucleotide variant not provided [RCV002030344] Chr1:186045718 [GRCh38]
Chr1:186014850 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16299T>G (p.Ile5433Met) single nucleotide variant Age related macular degeneration 1 [RCV003451997]|not provided [RCV001870122]|not specified [RCV004039584] Chr1:186182172 [GRCh38]
Chr1:186151304 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6676C>A (p.Pro2226Thr) single nucleotide variant not provided [RCV001936681] Chr1:186053050 [GRCh38]
Chr1:186022182 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1755T>A (p.Asp585Glu) single nucleotide variant not provided [RCV001906755] Chr1:185933751 [GRCh38]
Chr1:185902883 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11405-3T>C single nucleotide variant not provided [RCV001940655] Chr1:186115255 [GRCh38]
Chr1:186084387 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14335C>T (p.Arg4779Trp) single nucleotide variant not provided [RCV001916132] Chr1:186145471 [GRCh38]
Chr1:186114603 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5410C>T (p.Arg1804Trp) single nucleotide variant not provided [RCV001917600]|not specified [RCV004039136] Chr1:186018292 [GRCh38]
Chr1:185987424 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.154A>G (p.Met52Val) single nucleotide variant not provided [RCV001989431] Chr1:185734933 [GRCh38]
Chr1:185704065 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.15943+1G>T single nucleotide variant not provided [RCV001918851] Chr1:186174643 [GRCh38]
Chr1:186143775 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7705+2T>G single nucleotide variant not provided [RCV001900222] Chr1:186065431 [GRCh38]
Chr1:186034563 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5190G>T (p.Leu1730Phe) single nucleotide variant not provided [RCV001924968] Chr1:186016238 [GRCh38]
Chr1:185985370 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5885C>T (p.Ser1962Leu) single nucleotide variant not provided [RCV001940148] Chr1:186038862 [GRCh38]
Chr1:186007994 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3575G>A (p.Cys1192Tyr) single nucleotide variant not provided [RCV002049203] Chr1:185994884 [GRCh38]
Chr1:185964016 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1115T>C (p.Leu372Pro) single nucleotide variant not provided [RCV001870277] Chr1:185923483 [GRCh38]
Chr1:185892615 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6641T>C (p.Ile2214Thr) single nucleotide variant not provided [RCV001903549] Chr1:186053015 [GRCh38]
Chr1:186022147 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6220C>G (p.Gln2074Glu) single nucleotide variant not provided [RCV002026909] Chr1:186041052 [GRCh38]
Chr1:186010184 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13882A>G (p.Asn4628Asp) single nucleotide variant not provided [RCV001897725] Chr1:186137930 [GRCh38]
Chr1:186107062 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11689C>T (p.Pro3897Ser) single nucleotide variant not provided [RCV002034232] Chr1:186117464 [GRCh38]
Chr1:186086596 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11561+6G>A single nucleotide variant not provided [RCV001996377] Chr1:186115420 [GRCh38]
Chr1:186084552 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11042A>G (p.Asn3681Ser) single nucleotide variant not provided [RCV002034102] Chr1:186112864 [GRCh38]
Chr1:186081996 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.10280A>G (p.Asn3427Ser) single nucleotide variant not provided [RCV001979963]|not specified [RCV004043840] Chr1:186094359 [GRCh38]
Chr1:186063491 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.2326A>C (p.Asn776His) single nucleotide variant not provided [RCV001996505] Chr1:185970448 [GRCh38]
Chr1:185939580 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8925C>T (p.Thr2975=) single nucleotide variant not provided [RCV001924139] Chr1:186086286 [GRCh38]
Chr1:186055418 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4156G>A (p.Gly1386Ser) single nucleotide variant not provided [RCV001905829] Chr1:186001384 [GRCh38]
Chr1:185970516 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13339G>C (p.Val4447Leu) single nucleotide variant not provided [RCV001906160] Chr1:186136694 [GRCh38]
Chr1:186105826 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.769A>G (p.Met257Val) single nucleotide variant not provided [RCV001996669] Chr1:185909484 [GRCh38]
Chr1:185878616 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3992A>G (p.Tyr1331Cys) single nucleotide variant not provided [RCV001980369] Chr1:186000162 [GRCh38]
Chr1:185969294 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12413T>C (p.Val4138Ala) single nucleotide variant not provided [RCV002035134] Chr1:186123134 [GRCh38]
Chr1:186092266 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9433C>T (p.Leu3145Phe) single nucleotide variant Age related macular degeneration 1 [RCV003456253]|not provided [RCV001884422]|not specified [RCV004039065] Chr1:186088001 [GRCh38]
Chr1:186057133 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12746C>T (p.Thr4249Ile) single nucleotide variant Age related macular degeneration 1 [RCV003452133]|HMCN1-related disorder [RCV003968626]|not provided [RCV001906833]|not specified [RCV004042694] Chr1:186128133 [GRCh38]
Chr1:186097265 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12662A>G (p.Tyr4221Cys) single nucleotide variant not provided [RCV001955429] Chr1:186125766 [GRCh38]
Chr1:186094898 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7163G>A (p.Gly2388Glu) single nucleotide variant not provided [RCV002019963] Chr1:186057252 [GRCh38]
Chr1:186026384 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5891C>T (p.Ser1964Phe) single nucleotide variant not provided [RCV001884350] Chr1:186038868 [GRCh38]
Chr1:186008000 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15743C>T (p.Thr5248Ile) single nucleotide variant not provided [RCV001930236] Chr1:186172060 [GRCh38]
Chr1:186141192 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12220A>G (p.Asn4074Asp) single nucleotide variant not provided [RCV001975514] Chr1:186120136 [GRCh38]
Chr1:186089268 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7255A>G (p.Thr2419Ala) single nucleotide variant not provided [RCV001977366] Chr1:186057344 [GRCh38]
Chr1:186026476 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.878A>C (p.Glu293Ala) single nucleotide variant not provided [RCV001992692] Chr1:185911758 [GRCh38]
Chr1:185880890 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9899A>G (p.Asn3300Ser) single nucleotide variant Age related macular degeneration 1 [RCV003453891]|not provided [RCV001956730]|not specified [RCV004044503] Chr1:186093145 [GRCh38]
Chr1:186062277 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10633C>T (p.Pro3545Ser) single nucleotide variant not provided [RCV002033235]|not specified [RCV004038787] Chr1:186103531 [GRCh38]
Chr1:186072663 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3910G>A (p.Gly1304Ser) single nucleotide variant not provided [RCV001876553] Chr1:186000080 [GRCh38]
Chr1:185969212 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15967C>A (p.Pro5323Thr) single nucleotide variant not provided [RCV001953973] Chr1:186178439 [GRCh38]
Chr1:186147571 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2768G>A (p.Arg923Gln) single nucleotide variant not provided [RCV001992854] Chr1:185982367 [GRCh38]
Chr1:185951499 [GRCh37]
Chr1:1q31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_031935.3(HMCN1):c.15273G>C (p.Gln5091His) single nucleotide variant not provided [RCV001917818] Chr1:186165127 [GRCh38]
Chr1:186134259 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15077G>A (p.Arg5026Gln) single nucleotide variant not provided [RCV002014317] Chr1:186153808 [GRCh38]
Chr1:186122940 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4801C>A (p.Gln1601Lys) single nucleotide variant not provided [RCV001936063] Chr1:186015329 [GRCh38]
Chr1:185984461 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11125G>A (p.Val3709Ile) single nucleotide variant not provided [RCV001936084] Chr1:186112947 [GRCh38]
Chr1:186082079 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9116A>G (p.Asn3039Ser) single nucleotide variant not provided [RCV001978890] Chr1:186087286 [GRCh38]
Chr1:186056418 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2096T>C (p.Ile699Thr) single nucleotide variant not provided [RCV001957955] Chr1:185963893 [GRCh38]
Chr1:185933025 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5572A>T (p.Ile1858Phe) single nucleotide variant not provided [RCV001954061]|not specified [RCV004044441] Chr1:186019642 [GRCh38]
Chr1:185988774 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13525T>C (p.Cys4509Arg) single nucleotide variant not provided [RCV001935236] Chr1:186136880 [GRCh38]
Chr1:186106012 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7492A>T (p.Thr2498Ser) single nucleotide variant not provided [RCV001937645] Chr1:186062579 [GRCh38]
Chr1:186031711 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8582A>G (p.Tyr2861Cys) single nucleotide variant not provided [RCV002046355] Chr1:186078203 [GRCh38]
Chr1:186047335 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.26C>T (p.Thr9Ile) single nucleotide variant not provided [RCV001881464] Chr1:185734805 [GRCh38]
Chr1:185703937 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.9292C>T (p.Arg3098Trp) single nucleotide variant not provided [RCV001865190] Chr1:186087574 [GRCh38]
Chr1:186056706 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11277A>G (p.Arg3759=) single nucleotide variant not provided [RCV001995010] Chr1:186114819 [GRCh38]
Chr1:186083951 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9253G>A (p.Ala3085Thr) single nucleotide variant not provided [RCV001934602] Chr1:186087535 [GRCh38]
Chr1:186056667 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6941G>A (p.Cys2314Tyr) single nucleotide variant not provided [RCV002031171] Chr1:186055471 [GRCh38]
Chr1:186024603 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1546G>A (p.Val516Ile) single nucleotide variant HMCN1-related disorder [RCV004753415]|not provided [RCV001877899]|not specified [RCV004039072] Chr1:185928661 [GRCh38]
Chr1:185897793 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.14672C>T (p.Ala4891Val) single nucleotide variant not provided [RCV001976258] Chr1:186151263 [GRCh38]
Chr1:186120395 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14701C>G (p.Pro4901Ala) single nucleotide variant not provided [RCV001880758] Chr1:186151292 [GRCh38]
Chr1:186120424 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5120G>A (p.Arg1707Gln) single nucleotide variant not provided [RCV002033757] Chr1:186016168 [GRCh38]
Chr1:185985300 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11664T>C (p.Thr3888=) single nucleotide variant not provided [RCV002210884] Chr1:186117096 [GRCh38]
Chr1:186086228 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6181-17G>A single nucleotide variant not provided [RCV002112425] Chr1:186040996 [GRCh38]
Chr1:186010128 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.13512C>T (p.Thr4504=) single nucleotide variant not provided [RCV002170291] Chr1:186136867 [GRCh38]
Chr1:186105999 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6420C>T (p.Asp2140=) single nucleotide variant not provided [RCV002210541] Chr1:186045803 [GRCh38]
Chr1:186014935 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12918T>C (p.Ser4306=) single nucleotide variant not provided [RCV002205980] Chr1:186129979 [GRCh38]
Chr1:186099111 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3505+20C>T single nucleotide variant not provided [RCV002110687] Chr1:185993329 [GRCh38]
Chr1:185962461 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.2310T>C (p.Tyr770=) single nucleotide variant not provided [RCV002084672] Chr1:185970432 [GRCh38]
Chr1:185939564 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12904+14T>C single nucleotide variant not provided [RCV002074530] Chr1:186128305 [GRCh38]
Chr1:186097437 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11766A>G (p.Gly3922=) single nucleotide variant not provided [RCV002166478] Chr1:186117541 [GRCh38]
Chr1:186086673 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5556G>A (p.Gly1852=) single nucleotide variant not provided [RCV002084865] Chr1:186019626 [GRCh38]
Chr1:185988758 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11849-18del deletion not provided [RCV002125703] Chr1:186119173 [GRCh38]
Chr1:186088305 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15527G>A (p.Arg5176His) single nucleotide variant HMCN1-related disorder [RCV003933378]|not provided [RCV002111105] Chr1:186166895 [GRCh38]
Chr1:186136027 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6219A>G (p.Ala2073=) single nucleotide variant not provided [RCV002147260] Chr1:186041051 [GRCh38]
Chr1:186010183 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1605G>A (p.Glu535=) single nucleotide variant not provided [RCV002189475] Chr1:185933601 [GRCh38]
Chr1:185902733 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16305A>G (p.Glu5435=) single nucleotide variant not provided [RCV002074534] Chr1:186182178 [GRCh38]
Chr1:186151310 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5750-10C>T single nucleotide variant not provided [RCV002168721] Chr1:186037924 [GRCh38]
Chr1:186007056 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15944-18A>G single nucleotide variant not provided [RCV002125010] Chr1:186178398 [GRCh38]
Chr1:186147530 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.4476-16G>A single nucleotide variant not provided [RCV002129336] Chr1:186007112 [GRCh38]
Chr1:185976244 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.2778G>A (p.Lys926=) single nucleotide variant HMCN1-related disorder [RCV003903404]|not provided [RCV002129832] Chr1:185982377 [GRCh38]
Chr1:185951509 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.1545C>T (p.Asp515=) single nucleotide variant not provided [RCV002189711] Chr1:185928660 [GRCh38]
Chr1:185897792 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9577+20T>G single nucleotide variant not provided [RCV002189712] Chr1:186088296 [GRCh38]
Chr1:186057428 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.11205C>T (p.Ile3735=) single nucleotide variant not provided [RCV002187421] Chr1:186114052 [GRCh38]
Chr1:186083184 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8291-8C>T single nucleotide variant not provided [RCV002207902] Chr1:186076420 [GRCh38]
Chr1:186045552 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6852G>A (p.Leu2284=) single nucleotide variant not provided [RCV002205564] Chr1:186053976 [GRCh38]
Chr1:186023108 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6863-6C>T single nucleotide variant not provided [RCV002130777] Chr1:186055387 [GRCh38]
Chr1:186024519 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4938C>T (p.Ala1646=) single nucleotide variant not provided [RCV002185567] Chr1:186015986 [GRCh38]
Chr1:185985118 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1829-19C>T single nucleotide variant not provided [RCV002129770] Chr1:185962499 [GRCh38]
Chr1:185931631 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.2791-9T>C single nucleotide variant not provided [RCV002210196] Chr1:185984160 [GRCh38]
Chr1:185953292 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13695G>C (p.Gly4565=) single nucleotide variant not provided [RCV002186882] Chr1:186137610 [GRCh38]
Chr1:186106742 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9808G>C (p.Ala3270Pro) single nucleotide variant not provided [RCV002086144]|not specified [RCV004045764] Chr1:186090838 [GRCh38]
Chr1:186059970 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.5043T>C (p.Pro1681=) single nucleotide variant not provided [RCV002076046] Chr1:186016091 [GRCh38]
Chr1:185985223 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11763G>A (p.Ser3921=) single nucleotide variant not provided [RCV002186731] Chr1:186117538 [GRCh38]
Chr1:186086670 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.2978T>C (p.Ile993Thr) single nucleotide variant HMCN1-related disorder [RCV003958668]|not provided [RCV002107422] Chr1:185987474 [GRCh38]
Chr1:185956606 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12753T>A (p.Thr4251=) single nucleotide variant not provided [RCV002084628] Chr1:186128140 [GRCh38]
Chr1:186097272 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15440-12C>T single nucleotide variant not provided [RCV002072399] Chr1:186166796 [GRCh38]
Chr1:186135928 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.5301-17T>C single nucleotide variant not provided [RCV002104530] Chr1:186018166 [GRCh38]
Chr1:185987298 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.12696G>A (p.Glu4232=) single nucleotide variant not provided [RCV002084790] Chr1:186128083 [GRCh38]
Chr1:186097215 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3366G>A (p.Pro1122=) single nucleotide variant HMCN1-related disorder [RCV003958823]|not provided [RCV002106147] Chr1:185990432 [GRCh38]
Chr1:185959564 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12861A>G (p.Pro4287=) single nucleotide variant not provided [RCV002191716] Chr1:186128248 [GRCh38]
Chr1:186097380 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13313-20C>T single nucleotide variant not provided [RCV002128708] Chr1:186136648 [GRCh38]
Chr1:186105780 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11895C>T (p.Tyr3965=) single nucleotide variant not provided [RCV002091835] Chr1:186119237 [GRCh38]
Chr1:186088369 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9012C>T (p.Pro3004=) single nucleotide variant not provided [RCV002072825] Chr1:186086373 [GRCh38]
Chr1:186055505 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11280T>C (p.Tyr3760=) single nucleotide variant not provided [RCV002071716] Chr1:186114822 [GRCh38]
Chr1:186083954 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9686T>C (p.Met3229Thr) single nucleotide variant not provided [RCV002167488] Chr1:186088714 [GRCh38]
Chr1:186057846 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8140-11T>C single nucleotide variant not provided [RCV002188685] Chr1:186074730 [GRCh38]
Chr1:186043862 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14853C>T (p.Thr4951=) single nucleotide variant not provided [RCV002168998] Chr1:186151700 [GRCh38]
Chr1:186120832 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7514-6_7514-5dup duplication not provided [RCV002075665] Chr1:186065228..186065229 [GRCh38]
Chr1:186034360..186034361 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8151C>T (p.Ser2717=) single nucleotide variant not provided [RCV002105841] Chr1:186074752 [GRCh38]
Chr1:186043884 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4506A>G (p.Glu1502=) single nucleotide variant HMCN1-related disorder [RCV003978487]|not provided [RCV002085047] Chr1:186007158 [GRCh38]
Chr1:185976290 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3030G>A (p.Pro1010=) single nucleotide variant not provided [RCV002192100] Chr1:185987526 [GRCh38]
Chr1:185956658 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16414+19del deletion not provided [RCV002167897] Chr1:186182306 [GRCh38]
Chr1:186151438 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2343A>G (p.Ala781=) single nucleotide variant not provided [RCV002114790] Chr1:185970465 [GRCh38]
Chr1:185939597 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6315T>C (p.Asn2105=) single nucleotide variant not provided [RCV002096169] Chr1:186045698 [GRCh38]
Chr1:186014830 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6150T>C (p.Ser2050=) single nucleotide variant not provided [RCV002115826] Chr1:186039849 [GRCh38]
Chr1:186008981 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.2213-12G>A single nucleotide variant not provided [RCV002079485] Chr1:185970323 [GRCh38]
Chr1:185939455 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11276+14A>G single nucleotide variant not provided [RCV002186720] Chr1:186114137 [GRCh38]
Chr1:186083269 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10503G>A (p.Ser3501=) single nucleotide variant not provided [RCV002114833] Chr1:186095451 [GRCh38]
Chr1:186064583 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16806C>T (p.Thr5602=) single nucleotide variant not provided [RCV002134956] Chr1:186189776 [GRCh38]
Chr1:186158908 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10064T>C (p.Leu3355Ser) single nucleotide variant HMCN1-related disorder [RCV003958549]|not provided [RCV002197439] Chr1:186093537 [GRCh38]
Chr1:186062669 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2737C>T (p.Leu913=) single nucleotide variant not provided [RCV002076449] Chr1:185982336 [GRCh38]
Chr1:185951468 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14759-7del deletion not provided [RCV002114798] Chr1:186151592 [GRCh38]
Chr1:186120724 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13753+12T>C single nucleotide variant not provided [RCV002124828] Chr1:186137680 [GRCh38]
Chr1:186106812 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.12019T>C (p.Leu4007=) single nucleotide variant not provided [RCV002116524] Chr1:186119807 [GRCh38]
Chr1:186088939 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7185T>C (p.Asn2395=) single nucleotide variant not provided [RCV002174491] Chr1:186057274 [GRCh38]
Chr1:186026406 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3377+14dup duplication not provided [RCV002094598] Chr1:185990454..185990455 [GRCh38]
Chr1:185959586..185959587 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.8220C>G (p.Thr2740=) single nucleotide variant not provided [RCV002076713] Chr1:186074821 [GRCh38]
Chr1:186043953 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14616C>A (p.Pro4872=) single nucleotide variant not provided [RCV002150276] Chr1:186151207 [GRCh38]
Chr1:186120339 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8760A>G (p.Lys2920=) single nucleotide variant not provided [RCV002195371] Chr1:186081367 [GRCh38]
Chr1:186050499 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6180+7T>G single nucleotide variant not provided [RCV002076289] Chr1:186039886 [GRCh38]
Chr1:186009018 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2663-6A>T single nucleotide variant not provided [RCV002076996] Chr1:185982256 [GRCh38]
Chr1:185951388 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13039+12C>T single nucleotide variant not provided [RCV002188587] Chr1:186130112 [GRCh38]
Chr1:186099244 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6305-14C>T single nucleotide variant not provided [RCV002194214] Chr1:186045674 [GRCh38]
Chr1:186014806 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10771-10G>C single nucleotide variant not provided [RCV002151525] Chr1:186106874 [GRCh38]
Chr1:186076006 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8290+9A>G single nucleotide variant not provided [RCV002187458] Chr1:186074900 [GRCh38]
Chr1:186044032 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12691-12_12691-9del deletion HMCN1-related disorder [RCV003903409]|not provided [RCV002132051] Chr1:186128063..186128066 [GRCh38]
Chr1:186097195..186097198 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.9564C>T (p.Asn3188=) single nucleotide variant not provided [RCV002215063] Chr1:186088263 [GRCh38]
Chr1:186057395 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14547T>C (p.Gly4849=) single nucleotide variant HMCN1-related disorder [RCV003903518]|not provided [RCV002135218] Chr1:186145862 [GRCh38]
Chr1:186114994 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14438-20C>G single nucleotide variant not provided [RCV002150155] Chr1:186145733 [GRCh38]
Chr1:186114865 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.13281G>C (p.Val4427=) single nucleotide variant not provided [RCV002188799] Chr1:186132378 [GRCh38]
Chr1:186101510 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8220C>T (p.Thr2740=) single nucleotide variant HMCN1-related disorder [RCV003978666]|not provided [RCV002115620] Chr1:186074821 [GRCh38]
Chr1:186043953 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10941A>G (p.Ala3647=) single nucleotide variant not provided [RCV002153280] Chr1:186108549 [GRCh38]
Chr1:186077681 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9570G>A (p.Lys3190=) single nucleotide variant not provided [RCV002216045] Chr1:186088269 [GRCh38]
Chr1:186057401 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5750-4G>C single nucleotide variant not provided [RCV002073559] Chr1:186037930 [GRCh38]
Chr1:186007062 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.900+12T>C single nucleotide variant not provided [RCV002135019] Chr1:185911792 [GRCh38]
Chr1:185880924 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4631-19G>A single nucleotide variant not provided [RCV002094047] Chr1:186015140 [GRCh38]
Chr1:185984272 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6304+20_6304+23del microsatellite not provided [RCV002080536] Chr1:186041151..186041154 [GRCh38]
Chr1:186010283..186010286 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16719T>C (p.Asp5573=) single nucleotide variant not provided [RCV002095512] Chr1:186189689 [GRCh38]
Chr1:186158821 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5749+16C>T single nucleotide variant not provided [RCV002194304] Chr1:186023169 [GRCh38]
Chr1:185992301 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13992G>C (p.Gln4664His) single nucleotide variant not provided [RCV002173495] Chr1:186144240 [GRCh38]
Chr1:186113372 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8885-17del deletion not provided [RCV002153826] Chr1:186086229 [GRCh38]
Chr1:186055361 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.540T>C (p.His180=) single nucleotide variant not provided [RCV002150713] Chr1:185865782 [GRCh38]
Chr1:185834914 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1286-10T>C single nucleotide variant not provided [RCV002096060] Chr1:185925037 [GRCh38]
Chr1:185894169 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14759-7dup duplication not provided [RCV002116158] Chr1:186151591..186151592 [GRCh38]
Chr1:186120723..186120724 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.4377C>T (p.Phe1459=) single nucleotide variant not provided [RCV002072564] Chr1:186003746 [GRCh38]
Chr1:185972878 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9138A>G (p.Lys3046=) single nucleotide variant not provided [RCV002095280] Chr1:186087308 [GRCh38]
Chr1:186056440 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16050C>T (p.Asp5350=) single nucleotide variant not provided [RCV002128970] Chr1:186178522 [GRCh38]
Chr1:186147654 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4851G>A (p.Thr1617=) single nucleotide variant not provided [RCV002170300] Chr1:186015379 [GRCh38]
Chr1:185984511 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15189T>G (p.Ser5063=) single nucleotide variant not provided [RCV002150049] Chr1:186153920 [GRCh38]
Chr1:186123052 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13554C>T (p.Val4518=) single nucleotide variant not provided [RCV002094586] Chr1:186136909 [GRCh38]
Chr1:186106041 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4752C>T (p.Asp1584=) single nucleotide variant not provided [RCV002109372] Chr1:186015280 [GRCh38]
Chr1:185984412 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6795A>G (p.Ala2265=) single nucleotide variant not provided [RCV002193261] Chr1:186053919 [GRCh38]
Chr1:186023051 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14034T>G (p.Gly4678=) single nucleotide variant not provided [RCV002209687] Chr1:186144282 [GRCh38]
Chr1:186113414 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14438-5C>A single nucleotide variant not provided [RCV002211447] Chr1:186145748 [GRCh38]
Chr1:186114880 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3792G>A (p.Val1264=) single nucleotide variant not provided [RCV002194849] Chr1:185997442 [GRCh38]
Chr1:185966574 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1479C>T (p.Asp493=) single nucleotide variant not provided [RCV002105835] Chr1:185928594 [GRCh38]
Chr1:185897726 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5559T>C (p.Ile1853=) single nucleotide variant not provided [RCV002109942] Chr1:186019629 [GRCh38]
Chr1:185988761 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14376G>A (p.Gly4792=) single nucleotide variant not provided [RCV002170611] Chr1:186145512 [GRCh38]
Chr1:186114644 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11849-10dup duplication HMCN1-related disorder [RCV003913494]|not provided [RCV002096740] Chr1:186119173..186119174 [GRCh38]
Chr1:186088305..186088306 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.6305-16C>T single nucleotide variant not provided [RCV002114749] Chr1:186045672 [GRCh38]
Chr1:186014804 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12500-17T>G single nucleotide variant not provided [RCV002133893] Chr1:186125587 [GRCh38]
Chr1:186094719 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11276+7A>G single nucleotide variant HMCN1-related disorder [RCV003913603]|not provided [RCV002213439] Chr1:186114130 [GRCh38]
Chr1:186083262 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6181-7T>C single nucleotide variant not provided [RCV002079688] Chr1:186041006 [GRCh38]
Chr1:186010138 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3498T>C (p.Asn1166=) single nucleotide variant not provided [RCV002079713] Chr1:185993302 [GRCh38]
Chr1:185962434 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.900+11T>A single nucleotide variant not provided [RCV002104802] Chr1:185911791 [GRCh38]
Chr1:185880923 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2935+4AG[3] microsatellite HMCN1-related disorder [RCV003958864]|not provided [RCV002125690] Chr1:185984316..185984317 [GRCh38]
Chr1:185953448..185953449 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.441C>T (p.Ser147=) single nucleotide variant not provided [RCV002076700] Chr1:185864571 [GRCh38]
Chr1:185833703 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3864T>C (p.Cys1288=) single nucleotide variant not provided [RCV002076702] Chr1:185997514 [GRCh38]
Chr1:185966646 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1398T>C (p.Asn466=) single nucleotide variant not provided [RCV002170912] Chr1:185925159 [GRCh38]
Chr1:185894291 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9003T>C (p.Asn3001=) single nucleotide variant HMCN1-related disorder [RCV003911307]|not provided [RCV002213537] Chr1:186086364 [GRCh38]
Chr1:186055496 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3874+18A>G single nucleotide variant not provided [RCV002131373] Chr1:185997542 [GRCh38]
Chr1:185966674 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12905-14_12905-12del deletion not provided [RCV002116715] Chr1:186129950..186129952 [GRCh38]
Chr1:186099082..186099084 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.1224T>C (p.Tyr408=) single nucleotide variant HMCN1-related disorder [RCV003933543]|not provided [RCV002113725] Chr1:185923592 [GRCh38]
Chr1:185892724 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11382G>A (p.Arg3794=) single nucleotide variant not provided [RCV002195110] Chr1:186114924 [GRCh38]
Chr1:186084056 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15744C>T (p.Thr5248=) single nucleotide variant not provided [RCV002079251] Chr1:186172061 [GRCh38]
Chr1:186141193 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.498+11A>C single nucleotide variant not provided [RCV002153368] Chr1:185864639 [GRCh38]
Chr1:185833771 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9888-12T>A single nucleotide variant not provided [RCV002134646] Chr1:186093122 [GRCh38]
Chr1:186062254 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12690+3_12690+7dup duplication not provided [RCV002206012] Chr1:186125795..186125796 [GRCh38]
Chr1:186094927..186094928 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6480+17A>G single nucleotide variant not provided [RCV002132297] Chr1:186045880 [GRCh38]
Chr1:186015012 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.12777C>T (p.Leu4259=) single nucleotide variant not provided [RCV002195262] Chr1:186128164 [GRCh38]
Chr1:186097296 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16541+17C>T single nucleotide variant not provided [RCV002114379] Chr1:186188026 [GRCh38]
Chr1:186157158 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11871C>G (p.Thr3957=) single nucleotide variant not provided [RCV002082861] Chr1:186119213 [GRCh38]
Chr1:186088345 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8174C>T (p.Ala2725Val) single nucleotide variant not provided [RCV002083085] Chr1:186074775 [GRCh38]
Chr1:186043907 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.7993+16A>G single nucleotide variant not provided [RCV002135383] Chr1:186069792 [GRCh38]
Chr1:186038924 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3102T>C (p.Gly1034=) single nucleotide variant not provided [RCV002199585] Chr1:185989541 [GRCh38]
Chr1:185958673 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2791-9dup duplication not provided [RCV002099822] Chr1:185984151..185984152 [GRCh38]
Chr1:185953283..185953284 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.10012+19C>T single nucleotide variant not provided [RCV002181093] Chr1:186093277 [GRCh38]
Chr1:186062409 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.9046+13T>G single nucleotide variant not provided [RCV002177325] Chr1:186086420 [GRCh38]
Chr1:186055552 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9888-13A>G single nucleotide variant not provided [RCV002157934] Chr1:186093121 [GRCh38]
Chr1:186062253 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15789C>G (p.Thr5263=) single nucleotide variant not provided [RCV002218959] Chr1:186172106 [GRCh38]
Chr1:186141238 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10574-18T>C single nucleotide variant not provided [RCV002118078] Chr1:186103454 [GRCh38]
Chr1:186072586 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.15575-19G>A single nucleotide variant not provided [RCV002123653] Chr1:186171318 [GRCh38]
Chr1:186140450 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3177C>T (p.Tyr1059=) single nucleotide variant not provided [RCV002200358] Chr1:185989616 [GRCh38]
Chr1:185958748 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16638C>T (p.Ala5546=) single nucleotide variant not provided [RCV002081923] Chr1:186189608 [GRCh38]
Chr1:186158740 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3765G>A (p.Thr1255=) single nucleotide variant not provided [RCV002137926] Chr1:185995074 [GRCh38]
Chr1:185964206 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.9602G>A (p.Arg3201His) single nucleotide variant HMCN1-related disorder [RCV003911209]|not provided [RCV002179699] Chr1:186088630 [GRCh38]
Chr1:186057762 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2916T>G (p.Thr972=) single nucleotide variant HMCN1-related disorder [RCV003960935]|not provided [RCV002204303] Chr1:185984294 [GRCh38]
Chr1:185953426 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3779-8C>T single nucleotide variant not provided [RCV002176285] Chr1:185997421 [GRCh38]
Chr1:185966553 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11064C>A (p.Ala3688=) single nucleotide variant not provided [RCV002103019] Chr1:186112886 [GRCh38]
Chr1:186082018 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4631-16C>A single nucleotide variant not provided [RCV002202453] Chr1:186015143 [GRCh38]
Chr1:185984275 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.3879C>T (p.Thr1293=) single nucleotide variant not provided [RCV002120644] Chr1:186000049 [GRCh38]
Chr1:185969181 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.13925-20G>C single nucleotide variant not provided [RCV002158819] Chr1:186144153 [GRCh38]
Chr1:186113285 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12690+15C>G single nucleotide variant not provided [RCV002142659] Chr1:186125809 [GRCh38]
Chr1:186094941 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16395C>T (p.His5465=) single nucleotide variant not provided [RCV002155778] Chr1:186182268 [GRCh38]
Chr1:186151400 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7392T>C (p.Gly2464=) single nucleotide variant not provided [RCV002199493] Chr1:186061930 [GRCh38]
Chr1:186031062 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10545C>A (p.Val3515=) single nucleotide variant not provided [RCV002197673] Chr1:186095493 [GRCh38]
Chr1:186064625 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3549A>T (p.Gln1183His) single nucleotide variant HMCN1-related disorder [RCV003913667]|not provided [RCV002103985] Chr1:185994858 [GRCh38]
Chr1:185963990 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.16143C>T (p.Asn5381=) single nucleotide variant not provided [RCV002141375] Chr1:186178615 [GRCh38]
Chr1:186147747 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1557C>A (p.Pro519=) single nucleotide variant not provided [RCV002081556] Chr1:185933553 [GRCh38]
Chr1:185902685 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7647A>G (p.Thr2549=) single nucleotide variant not provided [RCV002160127] Chr1:186065371 [GRCh38]
Chr1:186034503 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1553-12G>T single nucleotide variant not provided [RCV002143089] Chr1:185933537 [GRCh38]
Chr1:185902669 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16541+19T>A single nucleotide variant not provided [RCV002083897] Chr1:186188028 [GRCh38]
Chr1:186157160 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.14266+19_14266+22del deletion Age related macular degeneration 1 [RCV002494070]|not provided [RCV002177771] Chr1:186144719..186144722 [GRCh38]
Chr1:186113851..186113854 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3377+10C>G single nucleotide variant not provided [RCV002102524] Chr1:185990453 [GRCh38]
Chr1:185959585 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12120T>C (p.Ser4040=) single nucleotide variant not provided [RCV002084148] Chr1:186120036 [GRCh38]
Chr1:186089168 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13039+13G>A single nucleotide variant not provided [RCV002138082] Chr1:186130113 [GRCh38]
Chr1:186099245 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4797A>G (p.Lys1599=) single nucleotide variant not provided [RCV002164031] Chr1:186015325 [GRCh38]
Chr1:185984457 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14609-11del deletion not provided [RCV002164075] Chr1:186151181 [GRCh38]
Chr1:186120313 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.1971-15G>A single nucleotide variant not provided [RCV002164176] Chr1:185963753 [GRCh38]
Chr1:185932885 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11916G>A (p.Ala3972=) single nucleotide variant not provided [RCV002217523] Chr1:186119258 [GRCh38]
Chr1:186088390 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3208+15A>G single nucleotide variant not provided [RCV002161089] Chr1:185989662 [GRCh38]
Chr1:185958794 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10294+7G>A single nucleotide variant not provided [RCV002162798] Chr1:186094380 [GRCh38]
Chr1:186063512 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5721A>G (p.Thr1907=) single nucleotide variant not provided [RCV002138738] Chr1:186023125 [GRCh38]
Chr1:185992257 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1431-17C>T single nucleotide variant not provided [RCV002140596] Chr1:185928529 [GRCh38]
Chr1:185897661 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4947G>A (p.Leu1649=) single nucleotide variant not provided [RCV002103227] Chr1:186015995 [GRCh38]
Chr1:185985127 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11849-10del deletion not provided [RCV002154087] Chr1:186119174 [GRCh38]
Chr1:186088306 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6701-18A>G single nucleotide variant not provided [RCV002144452] Chr1:186053807 [GRCh38]
Chr1:186022939 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.900+17A>G single nucleotide variant not provided [RCV002158001] Chr1:185911797 [GRCh38]
Chr1:185880929 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.10990-4C>T single nucleotide variant not provided [RCV002154447] Chr1:186112808 [GRCh38]
Chr1:186081940 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16294+7G>T single nucleotide variant not provided [RCV002100371] Chr1:186178773 [GRCh38]
Chr1:186147905 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10013-7A>C single nucleotide variant not provided [RCV002081676] Chr1:186093479 [GRCh38]
Chr1:186062611 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13040-17C>A single nucleotide variant not provided [RCV002217132] Chr1:186130490 [GRCh38]
Chr1:186099622 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14095+15_14095+16del deletion not provided [RCV002098724] Chr1:186144358..186144359 [GRCh38]
Chr1:186113490..186113491 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11849-18A>T single nucleotide variant not provided [RCV002156733] Chr1:186119173 [GRCh38]
Chr1:186088305 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6909T>C (p.Ile2303=) single nucleotide variant not provided [RCV002203789] Chr1:186055439 [GRCh38]
Chr1:186024571 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12229+18C>G single nucleotide variant not provided [RCV002136164] Chr1:186120163 [GRCh38]
Chr1:186089295 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14758+15dup duplication not provided [RCV002143327] Chr1:186151363..186151364 [GRCh38]
Chr1:186120495..186120496 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6028+15A>G single nucleotide variant not provided [RCV002158585] Chr1:186039020 [GRCh38]
Chr1:186008152 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14609-11dup duplication not provided [RCV002138596] Chr1:186151180..186151181 [GRCh38]
Chr1:186120312..186120313 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.4089T>C (p.Asp1363=) single nucleotide variant not provided [RCV002160470] Chr1:186001317 [GRCh38]
Chr1:185970449 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16541+11C>T single nucleotide variant not provided [RCV002178685] Chr1:186188020 [GRCh38]
Chr1:186157152 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7427-15G>T single nucleotide variant not provided [RCV002159372] Chr1:186062499 [GRCh38]
Chr1:186031631 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2715G>A (p.Gln905=) single nucleotide variant not provided [RCV002081275] Chr1:185982314 [GRCh38]
Chr1:185951446 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3626G>T (p.Ser1209Ile) single nucleotide variant not provided [RCV002155945] Chr1:185994935 [GRCh38]
Chr1:185964067 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2269T>C (p.Leu757=) single nucleotide variant not provided [RCV002138977] Chr1:185970391 [GRCh38]
Chr1:185939523 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2213-19C>T single nucleotide variant not provided [RCV002139347] Chr1:185970316 [GRCh38]
Chr1:185939448 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2655C>T (p.Thr885=) single nucleotide variant not provided [RCV002158039] Chr1:185981066 [GRCh38]
Chr1:185950198 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13089T>C (p.Leu4363=) single nucleotide variant not provided [RCV002140553] Chr1:186130556 [GRCh38]
Chr1:186099688 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15320-11dup duplication not provided [RCV002143143] Chr1:186166170..186166171 [GRCh38]
Chr1:186135302..186135303 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.13542A>G (p.Leu4514=) single nucleotide variant not provided [RCV002156385] Chr1:186136897 [GRCh38]
Chr1:186106029 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1158T>C (p.Tyr386=) single nucleotide variant not provided [RCV002183375] Chr1:185923526 [GRCh38]
Chr1:185892658 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9721A>G (p.Ile3241Val) single nucleotide variant not provided [RCV002123305] Chr1:186088749 [GRCh38]
Chr1:186057881 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.9392G>A (p.Arg3131Lys) single nucleotide variant HMCN1-related disorder [RCV003911270]|not provided [RCV002200424] Chr1:186087960 [GRCh38]
Chr1:186057092 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5091C>T (p.Leu1697=) single nucleotide variant not provided [RCV002203718] Chr1:186016139 [GRCh38]
Chr1:185985271 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4631-6_4635del deletion not provided [RCV002162424] Chr1:186015153..186015163 [GRCh38]
Chr1:185984285..185984295 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9048T>C (p.Gly3016=) single nucleotide variant not provided [RCV002082072] Chr1:186087218 [GRCh38]
Chr1:186056350 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11157C>T (p.Pro3719=) single nucleotide variant not provided [RCV002118454] Chr1:186114004 [GRCh38]
Chr1:186083136 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6578-11T>C single nucleotide variant not provided [RCV002140261] Chr1:186052941 [GRCh38]
Chr1:186022073 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13833G>A (p.Arg4611=) single nucleotide variant not provided [RCV002199131] Chr1:186137881 [GRCh38]
Chr1:186107013 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5136C>T (p.Cys1712=) single nucleotide variant not provided [RCV002159279] Chr1:186016184 [GRCh38]
Chr1:185985316 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10687A>G (p.Met3563Val) single nucleotide variant not provided [RCV003110393] Chr1:186103585 [GRCh38]
Chr1:186072717 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2275A>T (p.Ile759Phe) single nucleotide variant not provided [RCV003110526] Chr1:185970397 [GRCh38]
Chr1:185939529 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7328G>A (p.Arg2443Gln) single nucleotide variant not provided [RCV003110649] Chr1:186061866 [GRCh38]
Chr1:186030998 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14583C>T (p.Thr4861=) single nucleotide variant not provided [RCV003110686] Chr1:186145898 [GRCh38]
Chr1:186115030 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5952A>C (p.Ser1984=) single nucleotide variant not provided [RCV003109459] Chr1:186038929 [GRCh38]
Chr1:186008061 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12989C>T (p.Ala4330Val) single nucleotide variant not provided [RCV003110239] Chr1:186130050 [GRCh38]
Chr1:186099182 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6345C>A (p.Val2115=) single nucleotide variant not provided [RCV003116833] Chr1:186045728 [GRCh38]
Chr1:186014860 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15194A>G (p.Glu5065Gly) single nucleotide variant not provided [RCV003116857] Chr1:186153925 [GRCh38]
Chr1:186123057 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2095A>G (p.Ile699Val) single nucleotide variant not provided [RCV003118090] Chr1:185963892 [GRCh38]
Chr1:185933024 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11562-1G>A single nucleotide variant not provided [RCV003114136] Chr1:186116993 [GRCh38]
Chr1:186086125 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2893G>A (p.Val965Ile) single nucleotide variant not provided [RCV003115278] Chr1:185984271 [GRCh38]
Chr1:185953403 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6924G>C (p.Lys2308Asn) single nucleotide variant Age related macular degeneration 1 [RCV003456311]|not provided [RCV003118234]|not specified [RCV004244608] Chr1:186055454 [GRCh38]
Chr1:186024586 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7192G>A (p.Val2398Met) single nucleotide variant not provided [RCV003112543] Chr1:186057281 [GRCh38]
Chr1:186026413 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14345G>A (p.Arg4782His) single nucleotide variant not provided [RCV003118360] Chr1:186145481 [GRCh38]
Chr1:186114613 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7397A>G (p.Glu2466Gly) single nucleotide variant not provided [RCV003114898] Chr1:186061935 [GRCh38]
Chr1:186031067 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10757T>G (p.Ile3586Ser) single nucleotide variant not provided [RCV003117311] Chr1:186103655 [GRCh38]
Chr1:186072787 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5560C>T (p.Pro1854Ser) single nucleotide variant not provided [RCV003112283] Chr1:186019630 [GRCh38]
Chr1:185988762 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15890G>A (p.Arg5297His) single nucleotide variant not provided [RCV003115116] Chr1:186174589 [GRCh38]
Chr1:186143721 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11583A>G (p.Leu3861=) single nucleotide variant not provided [RCV003118598] Chr1:186117015 [GRCh38]
Chr1:186086147 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10886G>A (p.Arg3629Gln) single nucleotide variant not provided [RCV003118729] Chr1:186108494 [GRCh38]
Chr1:186077626 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12988G>A (p.Ala4330Thr) single nucleotide variant not provided [RCV003122075] Chr1:186130049 [GRCh38]
Chr1:186099181 [GRCh37]
Chr1:1q31.1		 uncertain significance
NC_000001.10:g.(?_186022937)_(186023138_?)del deletion not provided [RCV003122824] Chr1:186022937..186023138 [GRCh37]
Chr1:1q31.1		 uncertain significance
NC_000001.10:g.(?_186147528)_(186159010_?)del deletion not provided [RCV003122825] Chr1:186147528..186159010 [GRCh37]
Chr1:1q31.1		 uncertain significance
NC_000001.10:g.(?_186105780)_(186136094_?)dup duplication not provided [RCV003122826] Chr1:186105780..186136094 [GRCh37]
Chr1:1q31.1		 uncertain significance
NC_000001.10:g.(?_185703912)_(186957640_?)dup duplication not provided [RCV003122652] Chr1:185703912..186957640 [GRCh37]
Chr1:1q25.3-31.1		 uncertain significance
NM_031935.3(HMCN1):c.814T>G (p.Phe272Val) single nucleotide variant not provided [RCV003121657]|not specified [RCV004245897] Chr1:185911694 [GRCh38]
Chr1:185880826 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.502G>A (p.Val168Ile) single nucleotide variant not provided [RCV003121100] Chr1:185865744 [GRCh38]
Chr1:185834876 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6993C>A (p.His2331Gln) single nucleotide variant not provided [RCV003852820] Chr1:186055523 [GRCh38]
Chr1:186024655 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11080G>T (p.Ala3694Ser) single nucleotide variant not provided [RCV002297742] Chr1:186112902 [GRCh38]
Chr1:186082034 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15502A>G (p.Ile5168Val) single nucleotide variant not provided [RCV002297298] Chr1:186166870 [GRCh38]
Chr1:186136002 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14497G>A (p.Gly4833Ser) single nucleotide variant not specified [RCV004312395] Chr1:186145812 [GRCh38]
Chr1:186114944 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.62C>T (p.Ala21Val) single nucleotide variant not specified [RCV004320889] Chr1:185734841 [GRCh38]
Chr1:185703973 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.13778G>A (p.Ser4593Asn) single nucleotide variant not specified [RCV004314742] Chr1:186137826 [GRCh38]
Chr1:186106958 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15944-16C>T single nucleotide variant not provided [RCV002613615] Chr1:186178400 [GRCh38]
Chr1:186147532 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11683+16A>T single nucleotide variant not provided [RCV002613754] Chr1:186117131 [GRCh38]
Chr1:186086263 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.490C>T (p.Gln164Ter) single nucleotide variant not provided [RCV002613890] Chr1:185864620 [GRCh38]
Chr1:185833752 [GRCh37]
Chr1:1q31.1		 uncertain significance
GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1 copy number loss not provided [RCV002473949] Chr1:179727182..192260142 [GRCh37]
Chr1:1q25.2-31.2		 pathogenic
NM_031935.3(HMCN1):c.5614G>A (p.Gly1872Arg) single nucleotide variant not provided [RCV002858598]|not specified [RCV004064997] Chr1:186019684 [GRCh38]
Chr1:185988816 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14872G>A (p.Glu4958Lys) single nucleotide variant not provided [RCV002303707] Chr1:186151719 [GRCh38]
Chr1:186120851 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11663C>T (p.Thr3888Ile) single nucleotide variant not provided [RCV003011757] Chr1:186117095 [GRCh38]
Chr1:186086227 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.269-3C>T single nucleotide variant not provided [RCV002726372] Chr1:185846023 [GRCh38]
Chr1:185815155 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4003G>A (p.Glu1335Lys) single nucleotide variant not provided [RCV002295066] Chr1:186000173 [GRCh38]
Chr1:185969305 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1121C>T (p.Thr374Ile) single nucleotide variant not provided [RCV002304141] Chr1:185923489 [GRCh38]
Chr1:185892621 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8204C>G (p.Ala2735Gly) single nucleotide variant not provided [RCV002304280] Chr1:186074805 [GRCh38]
Chr1:186043937 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5685A>T (p.Arg1895Ser) single nucleotide variant not provided [RCV002304309] Chr1:186023089 [GRCh38]
Chr1:185992221 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9604A>G (p.Ile3202Val) single nucleotide variant not provided [RCV002296254] Chr1:186088632 [GRCh38]
Chr1:186057764 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.254C>T (p.Pro85Leu) single nucleotide variant not provided [RCV002304477] Chr1:185735033 [GRCh38]
Chr1:185704165 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.1231G>A (p.Asp411Asn) single nucleotide variant not provided [RCV002304904] Chr1:185923599 [GRCh38]
Chr1:185892731 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2194C>G (p.Gln732Glu) single nucleotide variant not provided [RCV002304990] Chr1:185965897 [GRCh38]
Chr1:185935029 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7187T>C (p.Ile2396Thr) single nucleotide variant not provided [RCV002303593] Chr1:186057276 [GRCh38]
Chr1:186026408 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4787A>T (p.Tyr1596Phe) single nucleotide variant not provided [RCV002303662] Chr1:186015315 [GRCh38]
Chr1:185984447 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16077G>C (p.Arg5359Ser) single nucleotide variant not provided [RCV002305278] Chr1:186178549 [GRCh38]
Chr1:186147681 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10276T>C (p.Tyr3426His) single nucleotide variant not provided [RCV002305341] Chr1:186094355 [GRCh38]
Chr1:186063487 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12761T>C (p.Leu4254Pro) single nucleotide variant not provided [RCV002305351] Chr1:186128148 [GRCh38]
Chr1:186097280 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7004A>G (p.Lys2335Arg) single nucleotide variant not provided [RCV002305364] Chr1:186055534 [GRCh38]
Chr1:186024666 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1921C>T (p.Pro641Ser) single nucleotide variant not provided [RCV002296708] Chr1:185962610 [GRCh38]
Chr1:185931742 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14016C>A (p.Asn4672Lys) single nucleotide variant not provided [RCV002301509] Chr1:186144264 [GRCh38]
Chr1:186113396 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11780C>T (p.Ser3927Leu) single nucleotide variant not provided [RCV002301638] Chr1:186117555 [GRCh38]
Chr1:186086687 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10654G>A (p.Ala3552Thr) single nucleotide variant not provided [RCV002298233] Chr1:186103552 [GRCh38]
Chr1:186072684 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.59T>C (p.Leu20Pro) single nucleotide variant not provided [RCV002294937] Chr1:185734838 [GRCh38]
Chr1:185703970 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.1310A>G (p.Glu437Gly) single nucleotide variant not provided [RCV002297867] Chr1:185925071 [GRCh38]
Chr1:185894203 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6422G>C (p.Gly2141Ala) single nucleotide variant not provided [RCV002301660] Chr1:186045805 [GRCh38]
Chr1:186014937 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9803G>A (p.Cys3268Tyr) single nucleotide variant not provided [RCV002299892] Chr1:186090833 [GRCh38]
Chr1:186059965 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1918A>G (p.Lys640Glu) single nucleotide variant not provided [RCV002296182] Chr1:185962607 [GRCh38]
Chr1:185931739 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4832C>G (p.Ser1611Cys) single nucleotide variant not provided [RCV002295246] Chr1:186015360 [GRCh38]
Chr1:185984492 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12931A>C (p.Ser4311Arg) single nucleotide variant not provided [RCV002300518] Chr1:186129992 [GRCh38]
Chr1:186099124 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11948A>T (p.His3983Leu) single nucleotide variant not provided [RCV002295158] Chr1:186119290 [GRCh38]
Chr1:186088422 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5462C>A (p.Thr1821Asn) single nucleotide variant not provided [RCV002301444] Chr1:186018344 [GRCh38]
Chr1:185987476 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4641T>A (p.Ser1547Arg) single nucleotide variant not provided [RCV002300194] Chr1:186015169 [GRCh38]
Chr1:185984301 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8939A>G (p.Asn2980Ser) single nucleotide variant not provided [RCV002295888] Chr1:186086300 [GRCh38]
Chr1:186055432 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11491C>G (p.Pro3831Ala) single nucleotide variant not provided [RCV002296297] Chr1:186115344 [GRCh38]
Chr1:186084476 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9035T>C (p.Leu3012Pro) single nucleotide variant not provided [RCV002299028] Chr1:186086396 [GRCh38]
Chr1:186055528 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15545G>T (p.Arg5182Leu) single nucleotide variant not provided [RCV002302963] Chr1:186166913 [GRCh38]
Chr1:186136045 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6887G>T (p.Gly2296Val) single nucleotide variant not provided [RCV002301886] Chr1:186055417 [GRCh38]
Chr1:186024549 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10201G>C (p.Val3401Leu) single nucleotide variant not provided [RCV002303050] Chr1:186094280 [GRCh38]
Chr1:186063412 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5879T>C (p.Leu1960Pro) single nucleotide variant not provided [RCV002296605] Chr1:186038856 [GRCh38]
Chr1:186007988 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14695G>A (p.Asp4899Asn) single nucleotide variant not provided [RCV002300280] Chr1:186151286 [GRCh38]
Chr1:186120418 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3335C>G (p.Thr1112Ser) single nucleotide variant not provided [RCV002302265] Chr1:185990401 [GRCh38]
Chr1:185959533 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1468A>G (p.Thr490Ala) single nucleotide variant not provided [RCV002300304] Chr1:185928583 [GRCh38]
Chr1:185897715 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1780T>A (p.Ser594Thr) single nucleotide variant not provided [RCV002303062] Chr1:185933776 [GRCh38]
Chr1:185902908 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6448C>T (p.Leu2150Phe) single nucleotide variant not provided [RCV003032697] Chr1:186045831 [GRCh38]
Chr1:186014963 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4160C>T (p.Thr1387Ile) single nucleotide variant not provided [RCV003011969] Chr1:186001388 [GRCh38]
Chr1:185970520 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9016A>G (p.Lys3006Glu) single nucleotide variant not provided [RCV003032433] Chr1:186086377 [GRCh38]
Chr1:186055509 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4200+19dup duplication not provided [RCV002730972] Chr1:186001444..186001445 [GRCh38]
Chr1:185970576..185970577 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4819C>G (p.Arg1607Gly) single nucleotide variant not provided [RCV002776081] Chr1:186015347 [GRCh38]
Chr1:185984479 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15240T>C (p.His5080=) single nucleotide variant not provided [RCV002967652] Chr1:186153971 [GRCh38]
Chr1:186123103 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9445+16T>C single nucleotide variant not provided [RCV002858096] Chr1:186088029 [GRCh38]
Chr1:186057161 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1430+16T>C single nucleotide variant not provided [RCV002726591] Chr1:185925207 [GRCh38]
Chr1:185894339 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11684-10G>A single nucleotide variant not provided [RCV002616604] Chr1:186117449 [GRCh38]
Chr1:186086581 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.813A>G (p.Gly271=) single nucleotide variant not provided [RCV002842212] Chr1:185911693 [GRCh38]
Chr1:185880825 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13631C>A (p.Thr4544Asn) single nucleotide variant not provided [RCV002614501] Chr1:186137546 [GRCh38]
Chr1:186106678 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11437A>G (p.Met3813Val) single nucleotide variant not provided [RCV002993777]|not specified [RCV004632130] Chr1:186115290 [GRCh38]
Chr1:186084422 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13031A>T (p.Tyr4344Phe) single nucleotide variant not provided [RCV003016145] Chr1:186130092 [GRCh38]
Chr1:186099224 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6863-19A>G single nucleotide variant not provided [RCV002771237] Chr1:186055374 [GRCh38]
Chr1:186024506 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.339+17A>G single nucleotide variant not provided [RCV002614125] Chr1:185846113 [GRCh38]
Chr1:185815245 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11683+6A>G single nucleotide variant not provided [RCV002815471] Chr1:186117121 [GRCh38]
Chr1:186086253 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7807C>T (p.Pro2603Ser) single nucleotide variant not specified [RCV004142732] Chr1:186067935 [GRCh38]
Chr1:186037067 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16499A>G (p.Asp5500Gly) single nucleotide variant not provided [RCV002815505] Chr1:186187967 [GRCh38]
Chr1:186157099 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14931C>T (p.Gly4977=) single nucleotide variant not provided [RCV002880764] Chr1:186152784 [GRCh38]
Chr1:186121916 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3844C>A (p.Gln1282Lys) single nucleotide variant not provided [RCV002970626] Chr1:185997494 [GRCh38]
Chr1:185966626 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2235A>T (p.Ser745=) single nucleotide variant not provided [RCV002839186] Chr1:185970357 [GRCh38]
Chr1:185939489 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11726C>T (p.Thr3909Ile) single nucleotide variant not provided [RCV002968055] Chr1:186117501 [GRCh38]
Chr1:186086633 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15808T>C (p.Cys5270Arg) single nucleotide variant Age related macular degeneration 1 [RCV003455730]|not provided [RCV002616503]|not specified [RCV004070552] Chr1:186172125 [GRCh38]
Chr1:186141257 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4435G>C (p.Gly1479Arg) single nucleotide variant not provided [RCV002903512] Chr1:186003804 [GRCh38]
Chr1:185972936 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5300+6G>C single nucleotide variant not provided [RCV002615914] Chr1:186017077 [GRCh38]
Chr1:185986209 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6377A>C (p.Gln2126Pro) single nucleotide variant not provided [RCV002971580] Chr1:186045760 [GRCh38]
Chr1:186014892 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15691G>A (p.Val5231Met) single nucleotide variant Age related macular degeneration 1 [RCV003455552]|not provided [RCV002614775]|not specified [RCV004065909] Chr1:186172008 [GRCh38]
Chr1:186141140 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9887+9A>T single nucleotide variant not provided [RCV002754986] Chr1:186090926 [GRCh38]
Chr1:186060058 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14420A>T (p.Asn4807Ile) single nucleotide variant not provided [RCV002616531] Chr1:186145556 [GRCh38]
Chr1:186114688 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12905-1G>A single nucleotide variant not provided [RCV002995681] Chr1:186129965 [GRCh38]
Chr1:186099097 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8095T>A (p.Tyr2699Asn) single nucleotide variant not provided [RCV002726937] Chr1:186070713 [GRCh38]
Chr1:186039845 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2414A>C (p.Glu805Ala) single nucleotide variant not provided [RCV002726951] Chr1:185977829 [GRCh38]
Chr1:185946961 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10948C>T (p.Pro3650Ser) single nucleotide variant not provided [RCV002842199] Chr1:186108556 [GRCh38]
Chr1:186077688 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9916A>G (p.Ile3306Val) single nucleotide variant not provided [RCV002614782] Chr1:186093162 [GRCh38]
Chr1:186062294 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.339G>A (p.Gln113=) single nucleotide variant not provided [RCV002815732] Chr1:185846096 [GRCh38]
Chr1:185815228 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2758C>T (p.Pro920Ser) single nucleotide variant not provided [RCV002972047] Chr1:185982357 [GRCh38]
Chr1:185951489 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8787G>C (p.Gln2929His) single nucleotide variant not provided [RCV002816632] Chr1:186081394 [GRCh38]
Chr1:186050526 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.207G>A (p.Thr69=) single nucleotide variant not provided [RCV003074554] Chr1:185734986 [GRCh38]
Chr1:185704118 [GRCh37]
Chr1:1q25.3		 likely benign
NM_031935.3(HMCN1):c.16462A>G (p.Met5488Val) single nucleotide variant not provided [RCV003033119] Chr1:186187930 [GRCh38]
Chr1:186157062 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8123G>T (p.Trp2708Leu) single nucleotide variant not specified [RCV004216994] Chr1:186070741 [GRCh38]
Chr1:186039873 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9765T>C (p.Asp3255=) single nucleotide variant not provided [RCV002685857] Chr1:186090795 [GRCh38]
Chr1:186059927 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16407A>G (p.Thr5469=) single nucleotide variant not provided [RCV002755074] Chr1:186182280 [GRCh38]
Chr1:186151412 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12370C>T (p.Arg4124Cys) single nucleotide variant not provided [RCV002615160] Chr1:186123091 [GRCh38]
Chr1:186092223 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13930G>A (p.Gly4644Arg) single nucleotide variant not provided [RCV003032290] Chr1:186144178 [GRCh38]
Chr1:186113310 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2791-17T>A single nucleotide variant not provided [RCV002994205] Chr1:185984152 [GRCh38]
Chr1:185953284 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16212C>A (p.Ser5404Arg) single nucleotide variant not specified [RCV004109016] Chr1:186178684 [GRCh38]
Chr1:186147816 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7857C>A (p.Asn2619Lys) single nucleotide variant Age related macular degeneration 1 [RCV003455567]|not provided [RCV002750499]|not specified [RCV004067824] Chr1:186067985 [GRCh38]
Chr1:186037117 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10234A>G (p.Thr3412Ala) single nucleotide variant not specified [RCV004092042] Chr1:186094313 [GRCh38]
Chr1:186063445 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16884A>G (p.Ile5628Met) single nucleotide variant not provided [RCV002615882] Chr1:186189854 [GRCh38]
Chr1:186158986 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9363+16T>C single nucleotide variant not provided [RCV003013856] Chr1:186087661 [GRCh38]
Chr1:186056793 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7083T>C (p.Tyr2361=) single nucleotide variant not provided [RCV002994076] Chr1:186055613 [GRCh38]
Chr1:186024745 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8671C>T (p.Leu2891=) single nucleotide variant not provided [RCV002862256] Chr1:186081278 [GRCh38]
Chr1:186050410 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15541T>C (p.Phe5181Leu) single nucleotide variant not provided [RCV002615905] Chr1:186166909 [GRCh38]
Chr1:186136041 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5916A>G (p.Arg1972=) single nucleotide variant not provided [RCV002880266] Chr1:186038893 [GRCh38]
Chr1:186008025 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1004T>A (p.Val335Asp) single nucleotide variant Age related macular degeneration 1 [RCV003455655]|not provided [RCV003015416]|not specified [RCV004068499] Chr1:185922482 [GRCh38]
Chr1:185891614 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.698T>C (p.Val233Ala) single nucleotide variant HMCN1-related disorder [RCV003963539]|not provided [RCV002995120]|not specified [RCV004632134] Chr1:185909413 [GRCh38]
Chr1:185878545 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.368T>C (p.Ile123Thr) single nucleotide variant not provided [RCV003565586]|not specified [RCV004126010] Chr1:185864498 [GRCh38]
Chr1:185833630 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7427-11T>C single nucleotide variant not provided [RCV002681243] Chr1:186062503 [GRCh38]
Chr1:186031635 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10715C>T (p.Thr3572Met) single nucleotide variant not provided [RCV002614434] Chr1:186103613 [GRCh38]
Chr1:186072745 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14312G>A (p.Arg4771Gln) single nucleotide variant not provided [RCV002904061] Chr1:186145448 [GRCh38]
Chr1:186114580 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3778+14C>T single nucleotide variant not provided [RCV003016160] Chr1:185995101 [GRCh38]
Chr1:185964233 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6714G>T (p.Leu2238=) single nucleotide variant not provided [RCV002975385] Chr1:186053838 [GRCh38]
Chr1:186022970 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16519T>C (p.Tyr5507His) single nucleotide variant not provided [RCV002734865] Chr1:186187987 [GRCh38]
Chr1:186157119 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7426+5T>C single nucleotide variant not provided [RCV002690481] Chr1:186061969 [GRCh38]
Chr1:186031101 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8430A>G (p.Thr2810=) single nucleotide variant not provided [RCV002838313] Chr1:186076567 [GRCh38]
Chr1:186045699 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3111T>A (p.Tyr1037Ter) single nucleotide variant not provided [RCV002881751] Chr1:185989550 [GRCh38]
Chr1:185958682 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8188C>T (p.Leu2730Phe) single nucleotide variant not provided [RCV003017192] Chr1:186074789 [GRCh38]
Chr1:186043921 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8788-5C>T single nucleotide variant not provided [RCV002819881] Chr1:186082860 [GRCh38]
Chr1:186051992 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6623T>A (p.Val2208Asp) single nucleotide variant not provided [RCV003017503] Chr1:186052997 [GRCh38]
Chr1:186022129 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15889C>T (p.Arg5297Cys) single nucleotide variant not provided [RCV002616262] Chr1:186174588 [GRCh38]
Chr1:186143720 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2567-7C>T single nucleotide variant not provided [RCV003097543] Chr1:185980971 [GRCh38]
Chr1:185950103 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5057A>G (p.Asp1686Gly) single nucleotide variant not provided [RCV002755488] Chr1:186016105 [GRCh38]
Chr1:185985237 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10574-10C>T single nucleotide variant not provided [RCV002947383] Chr1:186103462 [GRCh38]
Chr1:186072594 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4207G>A (p.Glu1403Lys) single nucleotide variant not provided [RCV002756444] Chr1:186001600 [GRCh38]
Chr1:185970732 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5859A>G (p.Thr1953=) single nucleotide variant not provided [RCV002618404] Chr1:186038836 [GRCh38]
Chr1:186007968 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10953T>C (p.Pro3651=) single nucleotide variant not provided [RCV002795011] Chr1:186108561 [GRCh38]
Chr1:186077693 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12115C>G (p.Pro4039Ala) single nucleotide variant not provided [RCV002681600] Chr1:186120031 [GRCh38]
Chr1:186089163 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14709T>G (p.Ser4903=) single nucleotide variant not provided [RCV003032601] Chr1:186151300 [GRCh38]
Chr1:186120432 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5447A>G (p.Lys1816Arg) single nucleotide variant not provided [RCV002617788] Chr1:186018329 [GRCh38]
Chr1:185987461 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9193T>C (p.Ser3065Pro) single nucleotide variant not provided [RCV002690307] Chr1:186087475 [GRCh38]
Chr1:186056607 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11822G>A (p.Gly3941Glu) single nucleotide variant not provided [RCV002819831] Chr1:186117597 [GRCh38]
Chr1:186086729 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4349-17C>T single nucleotide variant not provided [RCV002948184] Chr1:186003701 [GRCh38]
Chr1:185972833 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14759-19T>C single nucleotide variant not provided [RCV002613917] Chr1:186151587 [GRCh38]
Chr1:186120719 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11356A>T (p.Thr3786Ser) single nucleotide variant not provided [RCV002971188] Chr1:186114898 [GRCh38]
Chr1:186084030 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10944G>A (p.Val3648=) single nucleotide variant not provided [RCV003034268] Chr1:186108552 [GRCh38]
Chr1:186077684 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16265G>C (p.Gly5422Ala) single nucleotide variant not provided [RCV003034952] Chr1:186178737 [GRCh38]
Chr1:186147869 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6828G>A (p.Gly2276=) single nucleotide variant not provided [RCV002780164] Chr1:186053952 [GRCh38]
Chr1:186023084 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16281T>A (p.His5427Gln) single nucleotide variant not provided [RCV002815687] Chr1:186178753 [GRCh38]
Chr1:186147885 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2853G>T (p.Gln951His) single nucleotide variant not provided [RCV003095621] Chr1:185984231 [GRCh38]
Chr1:185953363 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5364C>T (p.Arg1788=) single nucleotide variant not provided [RCV002881852] Chr1:186018246 [GRCh38]
Chr1:185987378 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14759-3T>C single nucleotide variant not provided [RCV002882189] Chr1:186151603 [GRCh38]
Chr1:186120735 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12428C>G (p.Ala4143Gly) single nucleotide variant not provided [RCV003034127] Chr1:186123149 [GRCh38]
Chr1:186092281 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11774T>G (p.Phe3925Cys) single nucleotide variant not specified [RCV004135593] Chr1:186117549 [GRCh38]
Chr1:186086681 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4933T>G (p.Leu1645Val) single nucleotide variant not specified [RCV004118156] Chr1:186015981 [GRCh38]
Chr1:185985113 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5852-19T>A single nucleotide variant not provided [RCV002690300] Chr1:186038810 [GRCh38]
Chr1:186007942 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5142T>A (p.Ala1714=) single nucleotide variant not provided [RCV002795039] Chr1:186016190 [GRCh38]
Chr1:185985322 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6604G>T (p.Glu2202Ter) single nucleotide variant not provided [RCV002863719] Chr1:186052978 [GRCh38]
Chr1:186022110 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6032C>A (p.Ala2011Asp) single nucleotide variant not provided [RCV002690343] Chr1:186039731 [GRCh38]
Chr1:186008863 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6863-6C>A single nucleotide variant not provided [RCV003095731] Chr1:186055387 [GRCh38]
Chr1:186024519 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2637G>T (p.Glu879Asp) single nucleotide variant not provided [RCV002618514] Chr1:185981048 [GRCh38]
Chr1:185950180 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.456C>G (p.Leu152=) single nucleotide variant not provided [RCV003076460] Chr1:185864586 [GRCh38]
Chr1:185833718 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.14237G>A (p.Ser4746Asn) single nucleotide variant not provided [RCV002795122] Chr1:186144674 [GRCh38]
Chr1:186113806 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4201-9C>T single nucleotide variant not provided [RCV002975681] Chr1:186001585 [GRCh38]
Chr1:185970717 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9363+20T>C single nucleotide variant not provided [RCV003016376] Chr1:186087665 [GRCh38]
Chr1:186056797 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13939A>G (p.Ser4647Gly) single nucleotide variant Age related macular degeneration 1 [RCV003456305]|not provided [RCV003075987]|not specified [RCV004071931] Chr1:186144187 [GRCh38]
Chr1:186113319 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7145-14A>G single nucleotide variant not provided [RCV002690369] Chr1:186057220 [GRCh38]
Chr1:186026352 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8924C>T (p.Thr2975Ile) single nucleotide variant not provided [RCV003017601] Chr1:186086285 [GRCh38]
Chr1:186055417 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15478G>A (p.Ala5160Thr) single nucleotide variant Age related macular degeneration 1 [RCV003455556]|not provided [RCV002639098]|not specified [RCV004066644] Chr1:186166846 [GRCh38]
Chr1:186135978 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14364T>C (p.Pro4788=) single nucleotide variant not provided [RCV002685754] Chr1:186145500 [GRCh38]
Chr1:186114632 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15799A>G (p.Asn5267Asp) single nucleotide variant not provided [RCV002775498] Chr1:186172116 [GRCh38]
Chr1:186141248 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12229+20_12229+21del microsatellite not provided [RCV002838782] Chr1:186120162..186120163 [GRCh38]
Chr1:186089294..186089295 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10647C>G (p.Thr3549=) single nucleotide variant not provided [RCV002995726] Chr1:186103545 [GRCh38]
Chr1:186072677 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3084T>C (p.Phe1028=) single nucleotide variant not provided [RCV003076058] Chr1:185989523 [GRCh38]
Chr1:185958655 [GRCh37]
Chr1:1q31.1		 likely benign
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3		 pathogenic
NM_031935.3(HMCN1):c.6380G>A (p.Ser2127Asn) single nucleotide variant not provided [RCV002614397] Chr1:186045763 [GRCh38]
Chr1:186014895 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14340G>T (p.Arg4780=) single nucleotide variant not provided [RCV002863484] Chr1:186145476 [GRCh38]
Chr1:186114608 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13707A>C (p.Gln4569His) single nucleotide variant not provided [RCV003035203] Chr1:186137622 [GRCh38]
Chr1:186106754 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3505+12A>G single nucleotide variant not provided [RCV002727259] Chr1:185993321 [GRCh38]
Chr1:185962453 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2257C>G (p.Leu753Val) single nucleotide variant not provided [RCV002947660] Chr1:185970379 [GRCh38]
Chr1:185939511 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15811A>G (p.Ile5271Val) single nucleotide variant not provided [RCV002618872]|not specified [RCV004065934] Chr1:186172128 [GRCh38]
Chr1:186141260 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7521A>G (p.Pro2507=) single nucleotide variant not provided [RCV002776597] Chr1:186065245 [GRCh38]
Chr1:186034377 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4961T>C (p.Val1654Ala) single nucleotide variant not provided [RCV002881103] Chr1:186016009 [GRCh38]
Chr1:185985141 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9055A>C (p.Thr3019Pro) single nucleotide variant not provided [RCV002771329] Chr1:186087225 [GRCh38]
Chr1:186056357 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4177A>G (p.Met1393Val) single nucleotide variant not provided [RCV002861351] Chr1:186001405 [GRCh38]
Chr1:185970537 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16792C>A (p.Arg5598=) single nucleotide variant not provided [RCV002686327] Chr1:186189762 [GRCh38]
Chr1:186158894 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15725A>G (p.Asp5242Gly) single nucleotide variant not provided [RCV002970903] Chr1:186172042 [GRCh38]
Chr1:186141174 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9837A>G (p.Gln3279=) single nucleotide variant not provided [RCV002615279] Chr1:186090867 [GRCh38]
Chr1:186059999 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15696C>T (p.Asn5232=) single nucleotide variant not provided [RCV003075128] Chr1:186172013 [GRCh38]
Chr1:186141145 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15815-20C>T single nucleotide variant not provided [RCV002771328] Chr1:186174494 [GRCh38]
Chr1:186143626 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13754-2A>G single nucleotide variant not provided [RCV002816082] Chr1:186137800 [GRCh38]
Chr1:186106932 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13800G>A (p.Arg4600=) single nucleotide variant not provided [RCV003033427] Chr1:186137848 [GRCh38]
Chr1:186106980 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6581C>T (p.Pro2194Leu) single nucleotide variant not provided [RCV002755421] Chr1:186052955 [GRCh38]
Chr1:186022087 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10975G>A (p.Gly3659Arg) single nucleotide variant not provided [RCV002616090] Chr1:186108583 [GRCh38]
Chr1:186077715 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7444G>C (p.Gly2482Arg) single nucleotide variant not provided [RCV002726738] Chr1:186062531 [GRCh38]
Chr1:186031663 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8481G>A (p.Leu2827=) single nucleotide variant not provided [RCV003032445] Chr1:186076618 [GRCh38]
Chr1:186045750 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1367T>C (p.Leu456Pro) single nucleotide variant not provided [RCV003032446] Chr1:185925128 [GRCh38]
Chr1:185894260 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6986A>T (p.Asp2329Val) single nucleotide variant not provided [RCV003032824] Chr1:186055516 [GRCh38]
Chr1:186024648 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4328A>G (p.Tyr1443Cys) single nucleotide variant not provided [RCV002617220] Chr1:186001721 [GRCh38]
Chr1:185970853 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2318T>G (p.Val773Gly) single nucleotide variant not provided [RCV002972564]|not specified [RCV004065138] Chr1:185970440 [GRCh38]
Chr1:185939572 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9639G>T (p.Arg3213=) single nucleotide variant not provided [RCV002771417] Chr1:186088667 [GRCh38]
Chr1:186057799 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12500-8C>T single nucleotide variant not provided [RCV002726739] Chr1:186125596 [GRCh38]
Chr1:186094728 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7109G>A (p.Gly2370Glu) single nucleotide variant not provided [RCV002839167] Chr1:186055639 [GRCh38]
Chr1:186024771 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15544C>T (p.Arg5182Ter) single nucleotide variant not provided [RCV002862378] Chr1:186166912 [GRCh38]
Chr1:186136044 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15364C>T (p.His5122Tyr) single nucleotide variant not provided [RCV002731121] Chr1:186166228 [GRCh38]
Chr1:186135360 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5524A>C (p.Lys1842Gln) single nucleotide variant not specified [RCV004110720] Chr1:186019594 [GRCh38]
Chr1:185988726 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13313-1G>A single nucleotide variant not provided [RCV002751634] Chr1:186136667 [GRCh38]
Chr1:186105799 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1553-20A>C single nucleotide variant not provided [RCV002904773] Chr1:185933529 [GRCh38]
Chr1:185902661 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8118C>T (p.Leu2706=) single nucleotide variant not provided [RCV002862836] Chr1:186070736 [GRCh38]
Chr1:186039868 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14758+3_14758+6del deletion not provided [RCV002880638] Chr1:186151350..186151353 [GRCh38]
Chr1:186120482..186120485 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7626G>T (p.Val2542=) single nucleotide variant not provided [RCV003032572] Chr1:186065350 [GRCh38]
Chr1:186034482 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4499A>T (p.Asn1500Ile) single nucleotide variant not specified [RCV004127150] Chr1:186007151 [GRCh38]
Chr1:185976283 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8410G>A (p.Ala2804Thr) single nucleotide variant not provided [RCV002837846] Chr1:186076547 [GRCh38]
Chr1:186045679 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15387C>T (p.Tyr5129=) single nucleotide variant not provided [RCV002776316] Chr1:186166251 [GRCh38]
Chr1:186135383 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5750-12G>A single nucleotide variant not provided [RCV002726188] Chr1:186037922 [GRCh38]
Chr1:186007054 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15718A>G (p.Arg5240Gly) single nucleotide variant not provided [RCV002971652]|not specified [RCV004068333] Chr1:186172035 [GRCh38]
Chr1:186141167 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.479T>C (p.Ile160Thr) single nucleotide variant not specified [RCV004135594] Chr1:185864609 [GRCh38]
Chr1:185833741 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.63T>A (p.Ala21=) single nucleotide variant not provided [RCV002902969] Chr1:185734842 [GRCh38]
Chr1:185703974 [GRCh37]
Chr1:1q25.3		 likely benign
NM_031935.3(HMCN1):c.8785C>G (p.Gln2929Glu) single nucleotide variant not provided [RCV002991540] Chr1:186081392 [GRCh38]
Chr1:186050524 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.452G>A (p.Arg151Gln) single nucleotide variant Age related macular degeneration 1 [RCV003455550]|not provided [RCV002614209]|not specified [RCV004065836] Chr1:185864582 [GRCh38]
Chr1:185833714 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4938C>A (p.Ala1646=) single nucleotide variant not provided [RCV002858723] Chr1:186015986 [GRCh38]
Chr1:185985118 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14608+9C>G single nucleotide variant not provided [RCV002616876] Chr1:186145932 [GRCh38]
Chr1:186115064 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13601A>T (p.Gln4534Leu) single nucleotide variant not provided [RCV002881673] Chr1:186137516 [GRCh38]
Chr1:186106648 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8579A>G (p.Gln2860Arg) single nucleotide variant Age related macular degeneration 1 [RCV003455573]|not provided [RCV002770969]|not specified [RCV004064750] Chr1:186078200 [GRCh38]
Chr1:186047332 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15440-11C>T single nucleotide variant not provided [RCV002750947] Chr1:186166797 [GRCh38]
Chr1:186135929 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15574+4T>C single nucleotide variant not provided [RCV002750923] Chr1:186166946 [GRCh38]
Chr1:186136078 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12659C>T (p.Pro4220Leu) single nucleotide variant not provided [RCV002730083] Chr1:186125763 [GRCh38]
Chr1:186094895 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3588G>T (p.Gly1196=) single nucleotide variant not provided [RCV002613452] Chr1:185994897 [GRCh38]
Chr1:185964029 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12275T>G (p.Val4092Gly) single nucleotide variant not provided [RCV003013466] Chr1:186122996 [GRCh38]
Chr1:186092128 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6208T>A (p.Leu2070Met) single nucleotide variant not provided [RCV002967574] Chr1:186041040 [GRCh38]
Chr1:186010172 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6562A>G (p.Asn2188Asp) single nucleotide variant not specified [RCV004115267] Chr1:186048824 [GRCh38]
Chr1:186017956 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14938T>C (p.Ser4980Pro) single nucleotide variant not provided [RCV002816132] Chr1:186152791 [GRCh38]
Chr1:186121923 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13528G>A (p.Val4510Ile) single nucleotide variant not provided [RCV003016146] Chr1:186136883 [GRCh38]
Chr1:186106015 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6250G>A (p.Val2084Met) single nucleotide variant Age related macular degeneration 1 [RCV003455572]|not provided [RCV002800209]|not specified [RCV004064688] Chr1:186041082 [GRCh38]
Chr1:186010214 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12057T>G (p.Ile4019Met) single nucleotide variant not specified [RCV004117127] Chr1:186119845 [GRCh38]
Chr1:186088977 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1222T>C (p.Tyr408His) single nucleotide variant not provided [RCV002991829] Chr1:185923590 [GRCh38]
Chr1:185892722 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4070-14C>G single nucleotide variant not provided [RCV003013813] Chr1:186001284 [GRCh38]
Chr1:185970416 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1719T>C (p.Asn573=) single nucleotide variant not provided [RCV002815724] Chr1:185933715 [GRCh38]
Chr1:185902847 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7210G>C (p.Val2404Leu) single nucleotide variant not provided [RCV003015126] Chr1:186057299 [GRCh38]
Chr1:186026431 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4493A>C (p.Asp1498Ala) single nucleotide variant not specified [RCV004098146] Chr1:186007145 [GRCh38]
Chr1:185976277 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10165A>G (p.Ile3389Val) single nucleotide variant not provided [RCV003097568] Chr1:186093638 [GRCh38]
Chr1:186062770 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16415A>T (p.Asp5472Val) single nucleotide variant not provided [RCV002775172] Chr1:186187883 [GRCh38]
Chr1:186157015 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9437A>G (p.Asn3146Ser) single nucleotide variant not provided [RCV002775225] Chr1:186088005 [GRCh38]
Chr1:186057137 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11338C>T (p.Arg3780Trp) single nucleotide variant not provided [RCV003095589] Chr1:186114880 [GRCh38]
Chr1:186084012 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10982G>T (p.Arg3661Leu) single nucleotide variant not specified [RCV004158147] Chr1:186108590 [GRCh38]
Chr1:186077722 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3810A>G (p.Pro1270=) single nucleotide variant not provided [RCV003032698] Chr1:185997460 [GRCh38]
Chr1:185966592 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2317G>A (p.Val773Ile) single nucleotide variant not provided [RCV003015147] Chr1:185970439 [GRCh38]
Chr1:185939571 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5290C>T (p.Pro1764Ser) single nucleotide variant not provided [RCV003015940] Chr1:186017061 [GRCh38]
Chr1:185986193 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13881G>C (p.Gly4627=) single nucleotide variant not provided [RCV003016920] Chr1:186137929 [GRCh38]
Chr1:186107061 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15265A>G (p.Ser5089Gly) single nucleotide variant not provided [RCV002726211] Chr1:186165119 [GRCh38]
Chr1:186134251 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9528T>C (p.Thr3176=) single nucleotide variant not provided [RCV002615008] Chr1:186088227 [GRCh38]
Chr1:186057359 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1286-18T>A single nucleotide variant not provided [RCV002971456] Chr1:185925029 [GRCh38]
Chr1:185894161 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10982G>A (p.Arg3661Gln) single nucleotide variant not provided [RCV003076042] Chr1:186108590 [GRCh38]
Chr1:186077722 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12333A>C (p.Thr4111=) single nucleotide variant not provided [RCV002908443] Chr1:186123054 [GRCh38]
Chr1:186092186 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15940A>C (p.Met5314Leu) single nucleotide variant not provided [RCV003035001] Chr1:186174639 [GRCh38]
Chr1:186143771 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6227G>A (p.Ser2076Asn) single nucleotide variant not provided [RCV003014545] Chr1:186041059 [GRCh38]
Chr1:186010191 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11956+15T>C single nucleotide variant not provided [RCV002880978] Chr1:186119313 [GRCh38]
Chr1:186088445 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1355C>G (p.Ser452Cys) single nucleotide variant not provided [RCV002908302] Chr1:185925116 [GRCh38]
Chr1:185894248 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10397G>T (p.Ser3466Ile) single nucleotide variant not specified [RCV004140681] Chr1:186095345 [GRCh38]
Chr1:186064477 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11358C>G (p.Thr3786=) single nucleotide variant not provided [RCV003074688] Chr1:186114900 [GRCh38]
Chr1:186084032 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15797A>C (p.Glu5266Ala) single nucleotide variant not specified [RCV004119372] Chr1:186172114 [GRCh38]
Chr1:186141246 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5514G>T (p.Val1838=) single nucleotide variant not provided [RCV002843112] Chr1:186019584 [GRCh38]
Chr1:185988716 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10853-18A>G single nucleotide variant not provided [RCV002726420] Chr1:186108443 [GRCh38]
Chr1:186077575 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2996C>G (p.Thr999Ser) single nucleotide variant not provided [RCV002975068] Chr1:185987492 [GRCh38]
Chr1:185956624 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8160T>C (p.His2720=) single nucleotide variant not provided [RCV002618351] Chr1:186074761 [GRCh38]
Chr1:186043893 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10164T>C (p.His3388=) single nucleotide variant not provided [RCV002971017] Chr1:186093637 [GRCh38]
Chr1:186062769 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14897-5C>A single nucleotide variant not provided [RCV002755813] Chr1:186152745 [GRCh38]
Chr1:186121877 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8876A>G (p.Asn2959Ser) single nucleotide variant Age related macular degeneration 1 [RCV003455647]|not provided [RCV002988719]|not specified [RCV004065198] Chr1:186082953 [GRCh38]
Chr1:186052085 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6029-8T>A single nucleotide variant not provided [RCV002863029] Chr1:186039720 [GRCh38]
Chr1:186008852 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11684-18T>A single nucleotide variant not provided [RCV002881774] Chr1:186117441 [GRCh38]
Chr1:186086573 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16391C>A (p.Thr5464Lys) single nucleotide variant not provided [RCV002617639] Chr1:186182264 [GRCh38]
Chr1:186151396 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8291-14C>G single nucleotide variant not provided [RCV003016959] Chr1:186076414 [GRCh38]
Chr1:186045546 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9572G>A (p.Arg3191His) single nucleotide variant not provided [RCV002613824] Chr1:186088271 [GRCh38]
Chr1:186057403 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15330A>G (p.Glu5110=) single nucleotide variant not provided [RCV002755183] Chr1:186166194 [GRCh38]
Chr1:186135326 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7690A>G (p.Ser2564Gly) single nucleotide variant not provided [RCV002975030] Chr1:186065414 [GRCh38]
Chr1:186034546 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11307T>A (p.His3769Gln) single nucleotide variant not specified [RCV004146809] Chr1:186114849 [GRCh38]
Chr1:186083981 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8145T>G (p.Leu2715=) single nucleotide variant not provided [RCV002881256] Chr1:186074746 [GRCh38]
Chr1:186043878 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4246C>T (p.Leu1416=) single nucleotide variant not provided [RCV002614061] Chr1:186001639 [GRCh38]
Chr1:185970771 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7625_7626del (p.Val2542fs) deletion not provided [RCV003032571] Chr1:186065348..186065349 [GRCh38]
Chr1:186034480..186034481 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7486_7487del (p.Ser2496fs) microsatellite not provided [RCV002775924] Chr1:186062571..186062572 [GRCh38]
Chr1:186031703..186031704 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8017G>T (p.Asp2673Tyr) single nucleotide variant not provided [RCV002617043] Chr1:186070635 [GRCh38]
Chr1:186039767 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14701C>T (p.Pro4901Ser) single nucleotide variant not provided [RCV002863694] Chr1:186151292 [GRCh38]
Chr1:186120424 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11849G>A (p.Gly3950Glu) single nucleotide variant not provided [RCV002740170] Chr1:186119191 [GRCh38]
Chr1:186088323 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4235A>G (p.Asn1412Ser) single nucleotide variant not provided [RCV002760480] Chr1:186001628 [GRCh38]
Chr1:185970760 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4957G>A (p.Val1653Ile) single nucleotide variant not provided [RCV002740325] Chr1:186016005 [GRCh38]
Chr1:185985137 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15392C>T (p.Ser5131Phe) single nucleotide variant not provided [RCV002593383] Chr1:186166256 [GRCh38]
Chr1:186135388 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16100A>G (p.Tyr5367Cys) single nucleotide variant not provided [RCV002662822] Chr1:186178572 [GRCh38]
Chr1:186147704 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.622-11C>A single nucleotide variant not provided [RCV002696230] Chr1:185909326 [GRCh38]
Chr1:185878458 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13375T>C (p.Leu4459=) single nucleotide variant not provided [RCV003038396] Chr1:186136730 [GRCh38]
Chr1:186105862 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12371G>A (p.Arg4124His) single nucleotide variant not provided [RCV002622568] Chr1:186123092 [GRCh38]
Chr1:186092224 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4816C>A (p.Pro1606Thr) single nucleotide variant not provided [RCV002619283]|not specified [RCV004068911] Chr1:186015344 [GRCh38]
Chr1:185984476 [GRCh37]
Chr1:1q31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_031935.3(HMCN1):c.1828+12T>C single nucleotide variant not provided [RCV002796702] Chr1:185933836 [GRCh38]
Chr1:185902968 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10754G>C (p.Arg3585Pro) single nucleotide variant not provided [RCV002999811] Chr1:186103652 [GRCh38]
Chr1:186072784 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10184G>C (p.Gly3395Ala) single nucleotide variant not provided [RCV002571778] Chr1:186093657 [GRCh38]
Chr1:186062789 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5060A>G (p.Asn1687Ser) single nucleotide variant not provided [RCV003002962] Chr1:186016108 [GRCh38]
Chr1:185985240 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12690+15C>T single nucleotide variant not provided [RCV002662934] Chr1:186125809 [GRCh38]
Chr1:186094941 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12107C>T (p.Ala4036Val) single nucleotide variant not provided [RCV002740245] Chr1:186120023 [GRCh38]
Chr1:186089155 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5414G>A (p.Cys1805Tyr) single nucleotide variant not provided [RCV002871368] Chr1:186018296 [GRCh38]
Chr1:185987428 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2075A>G (p.Gln692Arg) single nucleotide variant not provided [RCV002913211] Chr1:185963872 [GRCh38]
Chr1:185933004 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3389T>A (p.Leu1130His) single nucleotide variant not provided [RCV002795630] Chr1:185993193 [GRCh38]
Chr1:185962325 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6286A>G (p.Ile2096Val) single nucleotide variant not provided [RCV003018922] Chr1:186041118 [GRCh38]
Chr1:186010250 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6361G>A (p.Val2121Met) single nucleotide variant not provided [RCV002640386] Chr1:186045744 [GRCh38]
Chr1:186014876 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10477C>G (p.Leu3493Val) single nucleotide variant not provided [RCV002696171] Chr1:186095425 [GRCh38]
Chr1:186064557 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10896T>C (p.Thr3632=) single nucleotide variant not provided [RCV002569489] Chr1:186108504 [GRCh38]
Chr1:186077636 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8C>A (p.Ser3Tyr) single nucleotide variant not provided [RCV002591620] Chr1:185734787 [GRCh38]
Chr1:185703919 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.14168_14169del (p.Arg4723fs) microsatellite not provided [RCV002913820] Chr1:186144602..186144603 [GRCh38]
Chr1:186113734..186113735 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14114C>A (p.Thr4705Asn) single nucleotide variant not provided [RCV002623014] Chr1:186144551 [GRCh38]
Chr1:186113683 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11245G>A (p.Asp3749Asn) single nucleotide variant not provided [RCV002593319]|not specified [RCV004632015] Chr1:186114092 [GRCh38]
Chr1:186083224 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10224C>T (p.Val3408=) single nucleotide variant not provided [RCV002623140] Chr1:186094303 [GRCh38]
Chr1:186063435 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9239A>C (p.Glu3080Ala) single nucleotide variant not specified [RCV004142256] Chr1:186087521 [GRCh38]
Chr1:186056653 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1304T>C (p.Met435Thr) single nucleotide variant not provided [RCV002572001] Chr1:185925065 [GRCh38]
Chr1:185894197 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9042G>A (p.Val3014=) single nucleotide variant not provided [RCV002619511] Chr1:186086403 [GRCh38]
Chr1:186055535 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11040C>T (p.Asn3680=) single nucleotide variant not provided [RCV002640452] Chr1:186112862 [GRCh38]
Chr1:186081994 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2320G>A (p.Ala774Thr) single nucleotide variant not provided [RCV002696163] Chr1:185970442 [GRCh38]
Chr1:185939574 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4070-19G>A single nucleotide variant not provided [RCV002825127] Chr1:186001279 [GRCh38]
Chr1:185970411 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5619C>T (p.Asn1873=) single nucleotide variant not provided [RCV002976305] Chr1:186019689 [GRCh38]
Chr1:185988821 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13416A>G (p.Thr4472=) single nucleotide variant not provided [RCV003053663] Chr1:186136771 [GRCh38]
Chr1:186105903 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5552A>G (p.Asn1851Ser) single nucleotide variant Age related macular degeneration 1 [RCV003456306]|not provided [RCV003080669]|not specified [RCV004073282] Chr1:186019622 [GRCh38]
Chr1:185988754 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4630+11T>C single nucleotide variant not provided [RCV002740060] Chr1:186007293 [GRCh38]
Chr1:185976425 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15380C>A (p.Thr5127Asn) single nucleotide variant not provided [RCV002800416] Chr1:186166244 [GRCh38]
Chr1:186135376 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15262C>T (p.Arg5088Cys) single nucleotide variant not provided [RCV002705646] Chr1:186165116 [GRCh38]
Chr1:186134248 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14798T>C (p.Ile4933Thr) single nucleotide variant not specified [RCV004161961] Chr1:186151645 [GRCh38]
Chr1:186120777 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4629T>C (p.Tyr1543=) single nucleotide variant not provided [RCV002622813] Chr1:186007281 [GRCh38]
Chr1:185976413 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13832G>A (p.Arg4611Lys) single nucleotide variant not specified [RCV004142255] Chr1:186137880 [GRCh38]
Chr1:186107012 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13925-18C>G single nucleotide variant not provided [RCV003039538] Chr1:186144155 [GRCh38]
Chr1:186113287 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11059A>G (p.Thr3687Ala) single nucleotide variant not provided [RCV003100465] Chr1:186112881 [GRCh38]
Chr1:186082013 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15574+4T>A single nucleotide variant not provided [RCV002999520] Chr1:186166946 [GRCh38]
Chr1:186136078 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15893G>A (p.Cys5298Tyr) single nucleotide variant Age related macular degeneration 1 [RCV003456309]|not provided [RCV002606594]|not specified [RCV004069090] Chr1:186174592 [GRCh38]
Chr1:186143724 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11848+15del deletion not provided [RCV002871148] Chr1:186117638 [GRCh38]
Chr1:186086770 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11131+19T>G single nucleotide variant not provided [RCV002590843] Chr1:186112972 [GRCh38]
Chr1:186082104 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7879+19A>G single nucleotide variant not provided [RCV002736717] Chr1:186068026 [GRCh38]
Chr1:186037158 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9894T>C (p.Ser3298=) single nucleotide variant not provided [RCV002695949] Chr1:186093140 [GRCh38]
Chr1:186062272 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4282A>G (p.Arg1428Gly) single nucleotide variant not provided [RCV002843960] Chr1:186001675 [GRCh38]
Chr1:185970807 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5771C>G (p.Ala1924Gly) single nucleotide variant not provided [RCV002690632] Chr1:186037955 [GRCh38]
Chr1:186007087 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9113T>A (p.Ile3038Asn) single nucleotide variant not provided [RCV003000091] Chr1:186087283 [GRCh38]
Chr1:186056415 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2325C>T (p.Ile775=) single nucleotide variant not provided [RCV003021121] Chr1:185970447 [GRCh38]
Chr1:185939579 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2612A>G (p.Asn871Ser) single nucleotide variant not specified [RCV004141703] Chr1:185981023 [GRCh38]
Chr1:185950155 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8822A>G (p.Tyr2941Cys) single nucleotide variant not provided [RCV002824247] Chr1:186082899 [GRCh38]
Chr1:186052031 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1363A>G (p.Ser455Gly) single nucleotide variant not provided [RCV002621928] Chr1:185925124 [GRCh38]
Chr1:185894256 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4713A>G (p.Thr1571=) single nucleotide variant not provided [RCV002590932] Chr1:186015241 [GRCh38]
Chr1:185984373 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14784T>C (p.Ser4928=) single nucleotide variant not provided [RCV002800230] Chr1:186151631 [GRCh38]
Chr1:186120763 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8145T>C (p.Leu2715=) single nucleotide variant not provided [RCV002914058] Chr1:186074746 [GRCh38]
Chr1:186043878 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14609-19T>C single nucleotide variant not provided [RCV002663081] Chr1:186151181 [GRCh38]
Chr1:186120313 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2952G>T (p.Gln984His) single nucleotide variant not provided [RCV002690717]|not specified [RCV004632052] Chr1:185987448 [GRCh38]
Chr1:185956580 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12691-16C>T single nucleotide variant not provided [RCV002820333] Chr1:186128062 [GRCh38]
Chr1:186097194 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3270C>T (p.Ser1090=) single nucleotide variant not provided [RCV002780377] Chr1:185990336 [GRCh38]
Chr1:185959468 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8175G>A (p.Ala2725=) single nucleotide variant not provided [RCV002780385] Chr1:186074776 [GRCh38]
Chr1:186043908 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14096-18C>G single nucleotide variant not provided [RCV003038731] Chr1:186144515 [GRCh38]
Chr1:186113647 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10747G>A (p.Val3583Ile) single nucleotide variant not provided [RCV002740114] Chr1:186103645 [GRCh38]
Chr1:186072777 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4369A>G (p.Thr1457Ala) single nucleotide variant not provided [RCV002871175] Chr1:186003738 [GRCh38]
Chr1:185972870 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.339+3G>A single nucleotide variant not provided [RCV002927738] Chr1:185846099 [GRCh38]
Chr1:185815231 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13057G>A (p.Gly4353Ser) single nucleotide variant not provided [RCV003021724] Chr1:186130524 [GRCh38]
Chr1:186099656 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10012+9G>T single nucleotide variant not provided [RCV002871221] Chr1:186093267 [GRCh38]
Chr1:186062399 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12979G>A (p.Val4327Met) single nucleotide variant not provided [RCV002949258] Chr1:186130040 [GRCh38]
Chr1:186099172 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13070C>A (p.Ser4357Tyr) single nucleotide variant Age related macular degeneration 1 [RCV003455584]|not provided [RCV002825187]|not specified [RCV004064910] Chr1:186130537 [GRCh38]
Chr1:186099669 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.978G>A (p.Lys326=) single nucleotide variant not provided [RCV003003171] Chr1:185922456 [GRCh38]
Chr1:185891588 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7423T>G (p.Leu2475Val) single nucleotide variant not provided [RCV002785872] Chr1:186061961 [GRCh38]
Chr1:186031093 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7360C>A (p.Gln2454Lys) single nucleotide variant not provided [RCV002909701] Chr1:186061898 [GRCh38]
Chr1:186031030 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5673A>G (p.Glu1891=) single nucleotide variant not provided [RCV003018665] Chr1:186023077 [GRCh38]
Chr1:185992209 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3874+3A>G single nucleotide variant not provided [RCV002590476] Chr1:185997527 [GRCh38]
Chr1:185966659 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4844C>T (p.Thr1615Ile) single nucleotide variant Age related macular degeneration 1 [RCV003455681]|not provided [RCV003053243]|not specified [RCV004070324] Chr1:186015372 [GRCh38]
Chr1:185984504 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9161-10C>G single nucleotide variant not provided [RCV002591185] Chr1:186087433 [GRCh38]
Chr1:186056565 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16226C>T (p.Ser5409Phe) single nucleotide variant not provided [RCV002909558] Chr1:186178698 [GRCh38]
Chr1:186147830 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16208A>G (p.Asn5403Ser) single nucleotide variant not provided [RCV002795551] Chr1:186178680 [GRCh38]
Chr1:186147812 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13689T>C (p.Asn4563=) single nucleotide variant not provided [RCV003054240] Chr1:186137604 [GRCh38]
Chr1:186106736 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.940C>T (p.Leu314Phe) single nucleotide variant not provided [RCV003018340] Chr1:185922418 [GRCh38]
Chr1:185891550 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10904G>A (p.Arg3635Gln) single nucleotide variant not provided [RCV002976618]|not specified [RCV004065162] Chr1:186108512 [GRCh38]
Chr1:186077644 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.1829-18G>T single nucleotide variant not provided [RCV002846994] Chr1:185962500 [GRCh38]
Chr1:185931632 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7437T>A (p.His2479Gln) single nucleotide variant not provided [RCV002824052] Chr1:186062524 [GRCh38]
Chr1:186031656 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5346G>T (p.Lys1782Asn) single nucleotide variant not provided [RCV002909377] Chr1:186018228 [GRCh38]
Chr1:185987360 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9106A>G (p.Ile3036Val) single nucleotide variant not specified [RCV004129130] Chr1:186087276 [GRCh38]
Chr1:186056408 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1752C>T (p.Asn584=) single nucleotide variant not provided [RCV002923852] Chr1:185933748 [GRCh38]
Chr1:185902880 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13289G>A (p.Arg4430His) single nucleotide variant not provided [RCV003720667]|not specified [RCV004114818] Chr1:186132386 [GRCh38]
Chr1:186101518 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.697G>A (p.Val233Ile) single nucleotide variant not provided [RCV002569674] Chr1:185909412 [GRCh38]
Chr1:185878544 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3209-5T>C single nucleotide variant not provided [RCV003020493] Chr1:185990270 [GRCh38]
Chr1:185959402 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14598A>G (p.Gln4866=) single nucleotide variant not provided [RCV002867883] Chr1:186145913 [GRCh38]
Chr1:186115045 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9839G>A (p.Trp3280Ter) single nucleotide variant not provided [RCV002948962] Chr1:186090869 [GRCh38]
Chr1:186060001 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15775C>T (p.Pro5259Ser) single nucleotide variant not specified [RCV004136908] Chr1:186172092 [GRCh38]
Chr1:186141224 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13500G>C (p.Gln4500His) single nucleotide variant not provided [RCV003053526] Chr1:186136855 [GRCh38]
Chr1:186105987 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13000G>A (p.Val4334Ile) single nucleotide variant not provided [RCV002923242] Chr1:186130061 [GRCh38]
Chr1:186099193 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14362C>G (p.Pro4788Ala) single nucleotide variant not provided [RCV002637281] Chr1:186145498 [GRCh38]
Chr1:186114630 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5389G>C (p.Val1797Leu) single nucleotide variant not provided [RCV002998945] Chr1:186018271 [GRCh38]
Chr1:185987403 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7536A>G (p.Thr2512=) single nucleotide variant not provided [RCV002569584] Chr1:186065260 [GRCh38]
Chr1:186034392 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.694G>A (p.Ala232Thr) single nucleotide variant not provided [RCV002638861] Chr1:185909409 [GRCh38]
Chr1:185878541 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9363+7C>A single nucleotide variant not provided [RCV002691236] Chr1:186087652 [GRCh38]
Chr1:186056784 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13243G>A (p.Gly4415Ser) single nucleotide variant not provided [RCV002621646] Chr1:186132340 [GRCh38]
Chr1:186101472 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15684C>T (p.Cys5228=) single nucleotide variant not provided [RCV002820519] Chr1:186171446 [GRCh38]
Chr1:186140578 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12111T>A (p.Val4037=) single nucleotide variant not provided [RCV002736463] Chr1:186120027 [GRCh38]
Chr1:186089159 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2443T>C (p.Tyr815His) single nucleotide variant not provided [RCV002638093] Chr1:185977858 [GRCh38]
Chr1:185946990 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12205G>A (p.Gly4069Ser) single nucleotide variant not provided [RCV002659507] Chr1:186120121 [GRCh38]
Chr1:186089253 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5191+20C>T single nucleotide variant not provided [RCV002636264] Chr1:186016259 [GRCh38]
Chr1:185985391 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11277-9C>G single nucleotide variant not provided [RCV002636280] Chr1:186114810 [GRCh38]
Chr1:186083942 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12654T>C (p.Ala4218=) single nucleotide variant HMCN1-related disorder [RCV003973573]|not provided [RCV002923675] Chr1:186125758 [GRCh38]
Chr1:186094890 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7999C>T (p.Pro2667Ser) single nucleotide variant not provided [RCV002886116] Chr1:186070617 [GRCh38]
Chr1:186039749 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.804A>G (p.Ile268Met) single nucleotide variant not provided [RCV002780969] Chr1:185911684 [GRCh38]
Chr1:185880816 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2213-16C>G single nucleotide variant not provided [RCV002659108] Chr1:185970319 [GRCh38]
Chr1:185939451 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11180A>G (p.Asn3727Ser) single nucleotide variant not provided [RCV002736485] Chr1:186114027 [GRCh38]
Chr1:186083159 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7700T>G (p.Val2567Gly) single nucleotide variant not provided [RCV002621244] Chr1:186065424 [GRCh38]
Chr1:186034556 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.756T>C (p.Ser252=) single nucleotide variant not provided [RCV003036115] Chr1:185909471 [GRCh38]
Chr1:185878603 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4520G>C (p.Gly1507Ala) single nucleotide variant not provided [RCV002658597]|not specified [RCV004066739] Chr1:186007172 [GRCh38]
Chr1:185976304 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4235_4246dup (p.Ile1415_Leu1416insHisGlyLysIle) duplication not provided [RCV002867633] Chr1:186001627..186001628 [GRCh38]
Chr1:185970759..185970760 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13727G>A (p.Arg4576Gln) single nucleotide variant not provided [RCV002795200] Chr1:186137642 [GRCh38]
Chr1:186106774 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5276C>A (p.Thr1759Lys) single nucleotide variant not provided [RCV002760467] Chr1:186017047 [GRCh38]
Chr1:185986179 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12691-17A>C single nucleotide variant not provided [RCV002690725] Chr1:186128061 [GRCh38]
Chr1:186097193 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16051G>A (p.Gly5351Arg) single nucleotide variant not provided [RCV002781087] Chr1:186178523 [GRCh38]
Chr1:186147655 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2150A>T (p.Asp717Val) single nucleotide variant not provided [RCV002735022] Chr1:185965853 [GRCh38]
Chr1:185934985 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8335G>C (p.Asp2779His) single nucleotide variant not provided [RCV002658566] Chr1:186076472 [GRCh38]
Chr1:186045604 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10622T>C (p.Ile3541Thr) single nucleotide variant not specified [RCV004169807] Chr1:186103520 [GRCh38]
Chr1:186072652 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12305C>G (p.Ala4102Gly) single nucleotide variant not provided [RCV002844032] Chr1:186123026 [GRCh38]
Chr1:186092158 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.759G>A (p.Gly253=) single nucleotide variant not provided [RCV002761409] Chr1:185909474 [GRCh38]
Chr1:185878606 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14209A>G (p.Arg4737Gly) single nucleotide variant not provided [RCV002640036] Chr1:186144646 [GRCh38]
Chr1:186113778 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1957G>A (p.Val653Met) single nucleotide variant not provided [RCV002795263] Chr1:185962646 [GRCh38]
Chr1:185931778 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12269T>C (p.Ile4090Thr) single nucleotide variant not provided [RCV002820649] Chr1:186122990 [GRCh38]
Chr1:186092122 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10129C>T (p.Leu3377=) single nucleotide variant not provided [RCV002949161] Chr1:186093602 [GRCh38]
Chr1:186062734 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16590C>T (p.Ser5530=) single nucleotide variant not provided [RCV002999364] Chr1:186189560 [GRCh38]
Chr1:186158692 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8884+16C>T single nucleotide variant not provided [RCV002662411] Chr1:186082977 [GRCh38]
Chr1:186052109 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12807G>A (p.Val4269=) single nucleotide variant not provided [RCV002927541] Chr1:186128194 [GRCh38]
Chr1:186097326 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5515G>C (p.Val1839Leu) single nucleotide variant not provided [RCV002592019] Chr1:186019585 [GRCh38]
Chr1:185988717 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9419A>G (p.Asp3140Gly) single nucleotide variant not provided [RCV002952668] Chr1:186087987 [GRCh38]
Chr1:186057119 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8553G>T (p.Val2851=) single nucleotide variant not provided [RCV002870834] Chr1:186078174 [GRCh38]
Chr1:186047306 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11830T>G (p.Tyr3944Asp) single nucleotide variant not provided [RCV002695776] Chr1:186117605 [GRCh38]
Chr1:186086737 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10949C>T (p.Pro3650Leu) single nucleotide variant not provided [RCV003100283]|not specified [RCV004634174] Chr1:186108557 [GRCh38]
Chr1:186077689 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11956+3A>T single nucleotide variant not provided [RCV003054854] Chr1:186119301 [GRCh38]
Chr1:186088433 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3835G>C (p.Val1279Leu) single nucleotide variant not provided [RCV002592898] Chr1:185997485 [GRCh38]
Chr1:185966617 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12726C>A (p.Asn4242Lys) single nucleotide variant Age related macular degeneration 1 [RCV003455605]|not provided [RCV002910062]|not specified [RCV004067071] Chr1:186128113 [GRCh38]
Chr1:186097245 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12348G>A (p.Gly4116=) single nucleotide variant not provided [RCV002621992] Chr1:186123069 [GRCh38]
Chr1:186092201 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4401C>T (p.Leu1467=) single nucleotide variant not provided [RCV002619855] Chr1:186003770 [GRCh38]
Chr1:185972902 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4414G>A (p.Ala1472Thr) single nucleotide variant not provided [RCV002659207]|not specified [RCV004066850] Chr1:186003783 [GRCh38]
Chr1:185972915 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.3847C>T (p.Arg1283Cys) single nucleotide variant not provided [RCV002639732] Chr1:185997497 [GRCh38]
Chr1:185966629 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2808C>T (p.Tyr936=) single nucleotide variant not provided [RCV003002555] Chr1:185984186 [GRCh38]
Chr1:185953318 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14539G>A (p.Val4847Ile) single nucleotide variant Age related macular degeneration 1 [RCV003455571]|not provided [RCV002800016]|not specified [RCV004064669] Chr1:186145854 [GRCh38]
Chr1:186114986 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12197C>G (p.Thr4066Arg) single nucleotide variant not provided [RCV003679155]|not specified [RCV004172690] Chr1:186120113 [GRCh38]
Chr1:186089245 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13039+2T>G single nucleotide variant not provided [RCV002979319] Chr1:186130102 [GRCh38]
Chr1:186099234 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11557T>C (p.Tyr3853His) single nucleotide variant not provided [RCV002639191] Chr1:186115410 [GRCh38]
Chr1:186084542 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2945C>A (p.Thr982Asn) single nucleotide variant not provided [RCV003054520] Chr1:185987441 [GRCh38]
Chr1:185956573 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11464A>G (p.Thr3822Ala) single nucleotide variant Age related macular degeneration 1 [RCV003455751]|not provided [RCV003108164]|not specified [RCV004090106] Chr1:186115317 [GRCh38]
Chr1:186084449 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15868G>A (p.Glu5290Lys) single nucleotide variant not provided [RCV002913569] Chr1:186174567 [GRCh38]
Chr1:186143699 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16647A>G (p.Gln5549=) single nucleotide variant not provided [RCV003018739] Chr1:186189617 [GRCh38]
Chr1:186158749 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3001C>T (p.Pro1001Ser) single nucleotide variant not provided [RCV002658726] Chr1:185987497 [GRCh38]
Chr1:185956629 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1233T>C (p.Asp411=) single nucleotide variant not provided [RCV002659252] Chr1:185923601 [GRCh38]
Chr1:185892733 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9878A>G (p.Glu3293Gly) single nucleotide variant not specified [RCV004110799] Chr1:186090908 [GRCh38]
Chr1:186060040 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5065C>T (p.Arg1689Cys) single nucleotide variant not provided [RCV002591421] Chr1:186016113 [GRCh38]
Chr1:185985245 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10845A>G (p.Arg3615=) single nucleotide variant not provided [RCV002912544] Chr1:186106958 [GRCh38]
Chr1:186076090 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.811G>A (p.Gly271Arg) single nucleotide variant not provided [RCV003035939] Chr1:185911691 [GRCh38]
Chr1:185880823 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4011C>T (p.Ile1337=) single nucleotide variant not provided [RCV002621873] Chr1:186000181 [GRCh38]
Chr1:185969313 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6021A>C (p.Gln2007His) single nucleotide variant not provided [RCV002824385] Chr1:186038998 [GRCh38]
Chr1:186008130 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10739G>A (p.Gly3580Glu) single nucleotide variant not provided [RCV002592793] Chr1:186103637 [GRCh38]
Chr1:186072769 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8959G>A (p.Glu2987Lys) single nucleotide variant not provided [RCV002571686] Chr1:186086320 [GRCh38]
Chr1:186055452 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6325GAA[1] (p.Glu2110del) microsatellite not provided [RCV002740032] Chr1:186045707..186045709 [GRCh38]
Chr1:186014839..186014841 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12073G>A (p.Gly4025Ser) single nucleotide variant Age related macular degeneration 1 [RCV003455610]|not provided [RCV002941965]|not specified [RCV004067135] Chr1:186119861 [GRCh38]
Chr1:186088993 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6189T>C (p.Ser2063=) single nucleotide variant not provided [RCV002736175] Chr1:186041021 [GRCh38]
Chr1:186010153 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13642G>A (p.Gly4548Ser) single nucleotide variant not provided [RCV002705869] Chr1:186137557 [GRCh38]
Chr1:186106689 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11433C>A (p.Thr3811=) single nucleotide variant not provided [RCV002847916] Chr1:186115286 [GRCh38]
Chr1:186084418 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13233T>C (p.Asn4411=) single nucleotide variant not provided [RCV002639963] Chr1:186132330 [GRCh38]
Chr1:186101462 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10746G>C (p.Glu3582Asp) single nucleotide variant not provided [RCV002571703] Chr1:186103644 [GRCh38]
Chr1:186072776 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11089A>G (p.Ile3697Val) single nucleotide variant not provided [RCV002619977] Chr1:186112911 [GRCh38]
Chr1:186082043 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8887C>A (p.Pro2963Thr) single nucleotide variant not provided [RCV003054151] Chr1:186086248 [GRCh38]
Chr1:186055380 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4394T>G (p.Val1465Gly) single nucleotide variant not provided [RCV002619326] Chr1:186003763 [GRCh38]
Chr1:185972895 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7730G>T (p.Gly2577Val) single nucleotide variant not provided [RCV003020040] Chr1:186067858 [GRCh38]
Chr1:186036990 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3255G>A (p.Lys1085=) single nucleotide variant not provided [RCV002639612] Chr1:185990321 [GRCh38]
Chr1:185959453 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8788-17C>A single nucleotide variant not provided [RCV002848306] Chr1:186082848 [GRCh38]
Chr1:186051980 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12725A>T (p.Asn4242Ile) single nucleotide variant not provided [RCV002571073] Chr1:186128112 [GRCh38]
Chr1:186097244 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6083C>T (p.Pro2028Leu) single nucleotide variant not provided [RCV002756802]|not specified [RCV004064696] Chr1:186039782 [GRCh38]
Chr1:186008914 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.1442G>C (p.Ser481Thr) single nucleotide variant Age related macular degeneration 1 [RCV003455726]|not provided [RCV002619698]|not specified [RCV004069058] Chr1:185928557 [GRCh38]
Chr1:185897689 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16265G>T (p.Gly5422Val) single nucleotide variant not provided [RCV003053506] Chr1:186178737 [GRCh38]
Chr1:186147869 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13447G>A (p.Asp4483Asn) single nucleotide variant not provided [RCV002706141] Chr1:186136802 [GRCh38]
Chr1:186105934 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8009A>C (p.Asn2670Thr) single nucleotide variant not specified [RCV004120947] Chr1:186070627 [GRCh38]
Chr1:186039759 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1191A>G (p.Pro397=) single nucleotide variant not provided [RCV003080840] Chr1:185923559 [GRCh38]
Chr1:185892691 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3641A>G (p.Asp1214Gly) single nucleotide variant not provided [RCV002636686]|not specified [RCV004634192] Chr1:185994950 [GRCh38]
Chr1:185964082 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7555C>G (p.Pro2519Ala) single nucleotide variant not provided [RCV003036639] Chr1:186065279 [GRCh38]
Chr1:186034411 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7568A>C (p.Asp2523Ala) single nucleotide variant not provided [RCV002949698] Chr1:186065292 [GRCh38]
Chr1:186034424 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3776A>T (p.Gln1259Leu) single nucleotide variant not provided [RCV003037597] Chr1:185995085 [GRCh38]
Chr1:185964217 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11461A>T (p.Thr3821Ser) single nucleotide variant not provided [RCV002705931] Chr1:186115314 [GRCh38]
Chr1:186084446 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11404+9C>T single nucleotide variant not provided [RCV002694788] Chr1:186114955 [GRCh38]
Chr1:186084087 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6029-3dup duplication not provided [RCV002735386] Chr1:186039724..186039725 [GRCh38]
Chr1:186008856..186008857 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1800A>G (p.Ser600=) single nucleotide variant not provided [RCV002659124] Chr1:185933796 [GRCh38]
Chr1:185902928 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2131C>T (p.Leu711Phe) single nucleotide variant not provided [RCV002620836] Chr1:185965834 [GRCh38]
Chr1:185934966 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3208+6A>T single nucleotide variant not provided [RCV002638415] Chr1:185989653 [GRCh38]
Chr1:185958785 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.900+5G>A single nucleotide variant not provided [RCV002913110] Chr1:185911785 [GRCh38]
Chr1:185880917 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14129G>A (p.Ser4710Asn) single nucleotide variant Age related macular degeneration 1 [RCV003455551]|not provided [RCV002621929]|not specified [RCV004065894] Chr1:186144566 [GRCh38]
Chr1:186113698 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4070-10C>G single nucleotide variant HMCN1-related disorder [RCV003973501]|not provided [RCV002866255] Chr1:186001288 [GRCh38]
Chr1:185970420 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1536A>G (p.Thr512=) single nucleotide variant not provided [RCV003077994] Chr1:185928651 [GRCh38]
Chr1:185897783 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11641G>A (p.Gly3881Ser) single nucleotide variant Age related macular degeneration 1 [RCV003455545]|not provided [RCV002591316]|not specified [RCV004065748] Chr1:186117073 [GRCh38]
Chr1:186086205 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16415-8G>A single nucleotide variant not provided [RCV002639313] Chr1:186187875 [GRCh38]
Chr1:186157007 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15944-14T>C single nucleotide variant not provided [RCV003039034] Chr1:186178402 [GRCh38]
Chr1:186147534 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7644T>C (p.Tyr2548=) single nucleotide variant not provided [RCV002590401] Chr1:186065368 [GRCh38]
Chr1:186034500 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7626G>A (p.Val2542=) single nucleotide variant not provided [RCV002913324] Chr1:186065350 [GRCh38]
Chr1:186034482 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14437+7C>G single nucleotide variant not provided [RCV003002769] Chr1:186145580 [GRCh38]
Chr1:186114712 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.720T>G (p.Phe240Leu) single nucleotide variant not provided [RCV002796081] Chr1:185909435 [GRCh38]
Chr1:185878567 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9047-14C>G single nucleotide variant not provided [RCV002781145] Chr1:186087203 [GRCh38]
Chr1:186056335 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8362G>A (p.Asp2788Asn) single nucleotide variant not provided [RCV002885903] Chr1:186076499 [GRCh38]
Chr1:186045631 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11904C>T (p.Val3968=) single nucleotide variant not provided [RCV002639119] Chr1:186119246 [GRCh38]
Chr1:186088378 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3003A>T (p.Pro1001=) single nucleotide variant not provided [RCV002570327] Chr1:185987499 [GRCh38]
Chr1:185956631 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11981C>G (p.Pro3994Arg) single nucleotide variant not provided [RCV002592020] Chr1:186119769 [GRCh38]
Chr1:186088901 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7994-19T>A single nucleotide variant not provided [RCV002639695] Chr1:186070593 [GRCh38]
Chr1:186039725 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6022G>T (p.Val2008Phe) single nucleotide variant not provided [RCV002999190] Chr1:186038999 [GRCh38]
Chr1:186008131 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13534C>T (p.Arg4512Ter) single nucleotide variant not provided [RCV002976678] Chr1:186136889 [GRCh38]
Chr1:186106021 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8510G>A (p.Arg2837Gln) single nucleotide variant not specified [RCV004107939] Chr1:186078131 [GRCh38]
Chr1:186047263 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3874+1G>A single nucleotide variant not provided [RCV002867555] Chr1:185997525 [GRCh38]
Chr1:185966657 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2441G>T (p.Cys814Phe) single nucleotide variant not specified [RCV004242235] Chr1:185977856 [GRCh38]
Chr1:185946988 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8865T>C (p.Tyr2955=) single nucleotide variant not provided [RCV002706616] Chr1:186082942 [GRCh38]
Chr1:186052074 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6648G>C (p.Leu2216=) single nucleotide variant not provided [RCV002867811] Chr1:186053022 [GRCh38]
Chr1:186022154 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3654T>C (p.His1218=) single nucleotide variant not provided [RCV003053827] Chr1:185994963 [GRCh38]
Chr1:185964095 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6995C>G (p.Pro2332Arg) single nucleotide variant not provided [RCV002909569] Chr1:186055525 [GRCh38]
Chr1:186024657 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3970G>T (p.Val1324Phe) single nucleotide variant not provided [RCV002979560] Chr1:186000140 [GRCh38]
Chr1:185969272 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3889A>G (p.Thr1297Ala) single nucleotide variant not provided [RCV003054320] Chr1:186000059 [GRCh38]
Chr1:185969191 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13582+5G>A single nucleotide variant not provided [RCV002979961] Chr1:186136942 [GRCh38]
Chr1:186106074 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6578T>C (p.Val2193Ala) single nucleotide variant not provided [RCV003081251] Chr1:186052952 [GRCh38]
Chr1:186022084 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10661G>T (p.Gly3554Val) single nucleotide variant HMCN1-related disorder [RCV003943663]|not provided [RCV002949423] Chr1:186103559 [GRCh38]
Chr1:186072691 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12493G>A (p.Val4165Ile) single nucleotide variant not provided [RCV002913888] Chr1:186123214 [GRCh38]
Chr1:186092346 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14918A>T (p.His4973Leu) single nucleotide variant Age related macular degeneration 1 [RCV003456294]|not provided [RCV002590497]|not specified [RCV004065663] Chr1:186152771 [GRCh38]
Chr1:186121903 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12978T>C (p.Tyr4326=) single nucleotide variant not provided [RCV002952360] Chr1:186130039 [GRCh38]
Chr1:186099171 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.787C>G (p.Pro263Ala) single nucleotide variant not provided [RCV002736363] Chr1:185909502 [GRCh38]
Chr1:185878634 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5625+19C>T single nucleotide variant not provided [RCV002621400] Chr1:186019714 [GRCh38]
Chr1:185988846 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14609-7C>G single nucleotide variant not provided [RCV002621645] Chr1:186151193 [GRCh38]
Chr1:186120325 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10342C>T (p.Leu3448Phe) single nucleotide variant not provided [RCV003054749] Chr1:186095290 [GRCh38]
Chr1:186064422 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12535A>G (p.Thr4179Ala) single nucleotide variant not provided [RCV002953133] Chr1:186125639 [GRCh38]
Chr1:186094771 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15263G>A (p.Arg5088His) single nucleotide variant not provided [RCV002781451] Chr1:186165117 [GRCh38]
Chr1:186134249 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13074C>A (p.Asn4358Lys) single nucleotide variant not provided [RCV002695150] Chr1:186130541 [GRCh38]
Chr1:186099673 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.622-6T>C single nucleotide variant not provided [RCV002695509] Chr1:185909331 [GRCh38]
Chr1:185878463 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16132G>A (p.Val5378Met) single nucleotide variant not provided [RCV003018413] Chr1:186178604 [GRCh38]
Chr1:186147736 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16541+3_16541+4dup duplication not provided [RCV002781459] Chr1:186188010..186188011 [GRCh38]
Chr1:186157142..186157143 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3874+4C>T single nucleotide variant not provided [RCV002795790] Chr1:185997528 [GRCh38]
Chr1:185966660 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6481-5T>C single nucleotide variant not provided [RCV002618981] Chr1:186048738 [GRCh38]
Chr1:186017870 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11333C>A (p.Thr3778Asn) single nucleotide variant not provided [RCV002846345] Chr1:186114875 [GRCh38]
Chr1:186084007 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11957-9T>C single nucleotide variant not provided [RCV002705216] Chr1:186119736 [GRCh38]
Chr1:186088868 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2223G>A (p.Glu741=) single nucleotide variant not provided [RCV002571079] Chr1:185970345 [GRCh38]
Chr1:185939477 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13811G>A (p.Arg4604His) single nucleotide variant not provided [RCV002599417]|not specified [RCV004068894] Chr1:186137859 [GRCh38]
Chr1:186106991 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.12970G>A (p.Gly4324Ser) single nucleotide variant not provided [RCV002979427] Chr1:186130031 [GRCh38]
Chr1:186099163 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15998C>T (p.Thr5333Ile) single nucleotide variant not provided [RCV002979428] Chr1:186178470 [GRCh38]
Chr1:186147602 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1597C>T (p.Pro533Ser) single nucleotide variant not provided [RCV002570290] Chr1:185933593 [GRCh38]
Chr1:185902725 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6700+11A>G single nucleotide variant not provided [RCV002622104] Chr1:186053085 [GRCh38]
Chr1:186022217 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4077A>G (p.Pro1359=) single nucleotide variant not provided [RCV002927290] Chr1:186001305 [GRCh38]
Chr1:185970437 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9377G>T (p.Gly3126Val) single nucleotide variant not provided [RCV002625527] Chr1:186087945 [GRCh38]
Chr1:186057077 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2767C>T (p.Arg923Trp) single nucleotide variant not provided [RCV002805662] Chr1:185982366 [GRCh38]
Chr1:185951498 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4313G>T (p.Gly1438Val) single nucleotide variant not provided [RCV003082564] Chr1:186001706 [GRCh38]
Chr1:185970838 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9446-10T>C single nucleotide variant not provided [RCV002575146] Chr1:186088135 [GRCh38]
Chr1:186057267 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8749G>A (p.Asp2917Asn) single nucleotide variant not provided [RCV003024808]|not specified [RCV004068683] Chr1:186081356 [GRCh38]
Chr1:186050488 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1430+10T>C single nucleotide variant not provided [RCV003008244] Chr1:185925201 [GRCh38]
Chr1:185894333 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.576A>G (p.Thr192=) single nucleotide variant not provided [RCV002627274] Chr1:185865818 [GRCh38]
Chr1:185834950 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12531C>G (p.His4177Gln) single nucleotide variant not provided [RCV002852917] Chr1:186125635 [GRCh38]
Chr1:186094767 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15577A>G (p.Ile5193Val) single nucleotide variant not provided [RCV002627185] Chr1:186171339 [GRCh38]
Chr1:186140471 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14021C>T (p.Pro4674Leu) single nucleotide variant Age related macular degeneration 1 [RCV003455632]|not provided [RCV002966825]|not specified [RCV004068224] Chr1:186144269 [GRCh38]
Chr1:186113401 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15626C>T (p.Ala5209Val) single nucleotide variant not specified [RCV004089611] Chr1:186171388 [GRCh38]
Chr1:186140520 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2244C>T (p.Leu748=) single nucleotide variant not provided [RCV003005255] Chr1:185970366 [GRCh38]
Chr1:185939498 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13271A>G (p.Glu4424Gly) single nucleotide variant not provided [RCV002766641] Chr1:186132368 [GRCh38]
Chr1:186101500 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16429C>T (p.Leu5477=) single nucleotide variant not provided [RCV002894422] Chr1:186187897 [GRCh38]
Chr1:186157029 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9887+10A>G single nucleotide variant not provided [RCV002959052] Chr1:186090927 [GRCh38]
Chr1:186060059 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2030G>A (p.Gly677Glu) single nucleotide variant not provided [RCV002700768] Chr1:185963827 [GRCh38]
Chr1:185932959 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9161-5C>T single nucleotide variant not provided [RCV002766749] Chr1:186087438 [GRCh38]
Chr1:186056570 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14552G>A (p.Arg4851His) single nucleotide variant not provided [RCV002959058] Chr1:186145867 [GRCh38]
Chr1:186114999 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8291-14C>T single nucleotide variant not provided [RCV002985744] Chr1:186076414 [GRCh38]
Chr1:186045546 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14897-8del deletion not provided [RCV002958428] Chr1:186152741 [GRCh38]
Chr1:186121873 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.30A>G (p.Val10=) single nucleotide variant not provided [RCV002741283] Chr1:185734809 [GRCh38]
Chr1:185703941 [GRCh37]
Chr1:1q25.3		 likely benign
NM_031935.3(HMCN1):c.9404T>C (p.Val3135Ala) single nucleotide variant not provided [RCV002643527] Chr1:186087972 [GRCh38]
Chr1:186057104 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7406T>C (p.Ile2469Thr) single nucleotide variant not provided [RCV002918234] Chr1:186061944 [GRCh38]
Chr1:186031076 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5466T>G (p.Val1822=) single nucleotide variant not provided [RCV002711847] Chr1:186018348 [GRCh38]
Chr1:185987480 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8548G>T (p.Ala2850Ser) single nucleotide variant not provided [RCV003008116] Chr1:186078169 [GRCh38]
Chr1:186047301 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15545G>A (p.Arg5182Gln) single nucleotide variant not provided [RCV002933366] Chr1:186166913 [GRCh38]
Chr1:186136045 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1415T>C (p.Val472Ala) single nucleotide variant not provided [RCV002918326] Chr1:185925176 [GRCh38]
Chr1:185894308 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8329A>G (p.Met2777Val) single nucleotide variant not provided [RCV002745733] Chr1:186076466 [GRCh38]
Chr1:186045598 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9302C>A (p.Thr3101Lys) single nucleotide variant not provided [RCV002701299] Chr1:186087584 [GRCh38]
Chr1:186056716 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9519T>C (p.Cys3173=) single nucleotide variant HMCN1-related disorder [RCV003971314]|not provided [RCV002575259] Chr1:186088218 [GRCh38]
Chr1:186057350 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15943+19G>A single nucleotide variant not provided [RCV002576242] Chr1:186174661 [GRCh38]
Chr1:186143793 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1582A>G (p.Asn528Asp) single nucleotide variant not provided [RCV002627321] Chr1:185933578 [GRCh38]
Chr1:185902710 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8180G>A (p.Gly2727Glu) single nucleotide variant not provided [RCV002805325] Chr1:186074781 [GRCh38]
Chr1:186043913 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3523C>T (p.Arg1175Cys) single nucleotide variant not provided [RCV003085347] Chr1:185994832 [GRCh38]
Chr1:185963964 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1323A>G (p.Gly441=) single nucleotide variant not provided [RCV002700785] Chr1:185925084 [GRCh38]
Chr1:185894216 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1697C>T (p.Ala566Val) single nucleotide variant not provided [RCV002668072] Chr1:185933693 [GRCh38]
Chr1:185902825 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8875A>C (p.Asn2959His) single nucleotide variant not provided [RCV002575373] Chr1:186082952 [GRCh38]
Chr1:186052084 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13375T>G (p.Leu4459Val) single nucleotide variant not provided [RCV002627304] Chr1:186136730 [GRCh38]
Chr1:186105862 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12224T>C (p.Val4075Ala) single nucleotide variant not provided [RCV002790516] Chr1:186120140 [GRCh38]
Chr1:186089272 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9160+4C>T single nucleotide variant not provided [RCV002645788] Chr1:186087334 [GRCh38]
Chr1:186056466 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4939A>G (p.Thr1647Ala) single nucleotide variant not provided [RCV002805866] Chr1:186015987 [GRCh38]
Chr1:185985119 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9492G>T (p.Thr3164=) single nucleotide variant not provided [RCV002932409] Chr1:186088191 [GRCh38]
Chr1:186057323 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3209-11G>A single nucleotide variant not provided [RCV002918442] Chr1:185990264 [GRCh38]
Chr1:185959396 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8779A>T (p.Ile2927Phe) single nucleotide variant not provided [RCV002829579] Chr1:186081386 [GRCh38]
Chr1:186050518 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16564C>A (p.Pro5522Thr) single nucleotide variant not provided [RCV002645797] Chr1:186189534 [GRCh38]
Chr1:186158666 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5620_5622del (p.Leu1874del) deletion not provided [RCV002875899] Chr1:186019690..186019692 [GRCh38]
Chr1:185988822..185988824 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1022-7C>T single nucleotide variant not provided [RCV002701011] Chr1:185923383 [GRCh38]
Chr1:185892515 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9363+17T>G single nucleotide variant not provided [RCV003007887] Chr1:186087662 [GRCh38]
Chr1:186056794 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10349G>A (p.Gly3450Asp) single nucleotide variant not provided [RCV002959021] Chr1:186095297 [GRCh38]
Chr1:186064429 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14742T>C (p.Asn4914=) single nucleotide variant HMCN1-related disorder [RCV003903727]|not provided [RCV002596947] Chr1:186151333 [GRCh38]
Chr1:186120465 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.16508G>A (p.Cys5503Tyr) single nucleotide variant not provided [RCV003007891] Chr1:186187976 [GRCh38]
Chr1:186157108 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9224C>T (p.Thr3075Ile) single nucleotide variant not provided [RCV002645632] Chr1:186087506 [GRCh38]
Chr1:186056638 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3510T>G (p.Pro1170=) single nucleotide variant not provided [RCV002889939] Chr1:185994819 [GRCh38]
Chr1:185963951 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5736A>T (p.Gln1912His) single nucleotide variant not provided [RCV003561160]|not specified [RCV004223266] Chr1:186023140 [GRCh38]
Chr1:185992272 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4229_4230del (p.Val1410fs) microsatellite not provided [RCV002851648] Chr1:186001620..186001621 [GRCh38]
Chr1:185970752..185970753 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1273A>T (p.Ser425Cys) single nucleotide variant not provided [RCV003005971] Chr1:185923641 [GRCh38]
Chr1:185892773 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15256+1G>T single nucleotide variant not provided [RCV003025810] Chr1:186153988 [GRCh38]
Chr1:186123120 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5236G>C (p.Val1746Leu) single nucleotide variant not provided [RCV002667988] Chr1:186017007 [GRCh38]
Chr1:185986139 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2925G>T (p.Val975=) single nucleotide variant not provided [RCV002958236] Chr1:185984303 [GRCh38]
Chr1:185953435 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6512G>A (p.Arg2171His) single nucleotide variant not provided [RCV003059043] Chr1:186048774 [GRCh38]
Chr1:186017906 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5623A>G (p.Lys1875Glu) single nucleotide variant not provided [RCV002711582] Chr1:186019693 [GRCh38]
Chr1:185988825 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1162A>G (p.Ile388Val) single nucleotide variant not provided [RCV002932460] Chr1:185923530 [GRCh38]
Chr1:185892662 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3194A>G (p.Gln1065Arg) single nucleotide variant not provided [RCV002667338] Chr1:185989633 [GRCh38]
Chr1:185958765 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15664C>T (p.Gln5222Ter) single nucleotide variant not provided [RCV002745590] Chr1:186171426 [GRCh38]
Chr1:186140558 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10398T>C (p.Ser3466=) single nucleotide variant not provided [RCV002700591] Chr1:186095346 [GRCh38]
Chr1:186064478 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15019-15C>T single nucleotide variant not provided [RCV003006040] Chr1:186153735 [GRCh38]
Chr1:186122867 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4475+15T>C single nucleotide variant not provided [RCV002894990] Chr1:186003859 [GRCh38]
Chr1:185972991 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13430G>A (p.Gly4477Glu) single nucleotide variant not provided [RCV002958819] Chr1:186136785 [GRCh38]
Chr1:186105917 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.426C>T (p.Phe142=) single nucleotide variant not provided [RCV002597109] Chr1:185864556 [GRCh38]
Chr1:185833688 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.11400C>G (p.Val3800=) single nucleotide variant not provided [RCV002745629] Chr1:186114942 [GRCh38]
Chr1:186084074 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10573+13T>C single nucleotide variant not provided [RCV002958835] Chr1:186095534 [GRCh38]
Chr1:186064666 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.380A>G (p.Lys127Arg) single nucleotide variant not provided [RCV002791254] Chr1:185864510 [GRCh38]
Chr1:185833642 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1132A>G (p.Lys378Glu) single nucleotide variant not provided [RCV003022272] Chr1:185923500 [GRCh38]
Chr1:185892632 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10885C>T (p.Arg3629Trp) single nucleotide variant not provided [RCV002594072] Chr1:186108493 [GRCh38]
Chr1:186077625 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12124G>A (p.Gly4042Ser) single nucleotide variant not provided [RCV002575595] Chr1:186120040 [GRCh38]
Chr1:186089172 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15487G>C (p.Asp5163His) single nucleotide variant not specified [RCV004107832] Chr1:186166855 [GRCh38]
Chr1:186135987 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9281A>G (p.Tyr3094Cys) single nucleotide variant not provided [RCV002957784]|not specified [RCV004632110] Chr1:186087563 [GRCh38]
Chr1:186056695 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11971C>G (p.Gln3991Glu) single nucleotide variant not provided [RCV002667896] Chr1:186119759 [GRCh38]
Chr1:186088891 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9046+5G>A single nucleotide variant not provided [RCV002625042] Chr1:186086412 [GRCh38]
Chr1:186055544 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2835C>A (p.Leu945=) single nucleotide variant not provided [RCV002643302] Chr1:185984213 [GRCh38]
Chr1:185953345 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10348G>A (p.Gly3450Ser) single nucleotide variant not provided [RCV002957208] Chr1:186095296 [GRCh38]
Chr1:186064428 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8423C>T (p.Thr2808Ile) single nucleotide variant not provided [RCV002740613] Chr1:186076560 [GRCh38]
Chr1:186045692 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8291-10T>G single nucleotide variant HMCN1-related disorder [RCV003916488]|not provided [RCV002572790] Chr1:186076418 [GRCh38]
Chr1:186045550 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.2837A>G (p.His946Arg) single nucleotide variant not specified [RCV004147606] Chr1:185984215 [GRCh38]
Chr1:185953347 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2827G>A (p.Gly943Arg) single nucleotide variant not provided [RCV003058154] Chr1:185984205 [GRCh38]
Chr1:185953337 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14195C>A (p.Pro4732His) single nucleotide variant not provided [RCV003720674]|not specified [RCV004116404] Chr1:186144632 [GRCh38]
Chr1:186113764 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9660A>G (p.Gly3220=) single nucleotide variant not provided [RCV003058006] Chr1:186088688 [GRCh38]
Chr1:186057820 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16612C>A (p.Leu5538Ile) single nucleotide variant not provided [RCV002595939]|not specified [RCV004634184] Chr1:186189582 [GRCh38]
Chr1:186158714 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10623T>C (p.Ile3541=) single nucleotide variant not provided [RCV002786379] Chr1:186103521 [GRCh38]
Chr1:186072653 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16615G>A (p.Val5539Ile) single nucleotide variant not provided [RCV002642910] Chr1:186189585 [GRCh38]
Chr1:186158717 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11404+10C>G single nucleotide variant not provided [RCV002828627] Chr1:186114956 [GRCh38]
Chr1:186084088 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1320A>G (p.Pro440=) single nucleotide variant not provided [RCV003041981] Chr1:185925081 [GRCh38]
Chr1:185894213 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1457T>C (p.Ile486Thr) single nucleotide variant not provided [RCV002666751] Chr1:185928572 [GRCh38]
Chr1:185897704 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4523A>G (p.Gln1508Arg) single nucleotide variant not provided [RCV002575057] Chr1:186007175 [GRCh38]
Chr1:185976307 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8872C>T (p.Leu2958Phe) single nucleotide variant not provided [RCV002572471] Chr1:186082949 [GRCh38]
Chr1:186052081 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14123G>C (p.Ser4708Thr) single nucleotide variant not provided [RCV002828206] Chr1:186144560 [GRCh38]
Chr1:186113692 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13621T>C (p.Cys4541Arg) single nucleotide variant not provided [RCV003023873] Chr1:186137536 [GRCh38]
Chr1:186106668 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3889A>T (p.Thr1297Ser) single nucleotide variant Age related macular degeneration 1 [RCV003455557]|not provided [RCV002666525]|not specified [RCV004066699] Chr1:186000059 [GRCh38]
Chr1:185969191 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2287C>G (p.Gln763Glu) single nucleotide variant not provided [RCV002765669]|not specified [RCV004067842] Chr1:185970409 [GRCh38]
Chr1:185939541 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16872C>A (p.Phe5624Leu) single nucleotide variant not provided [RCV003057886] Chr1:186189842 [GRCh38]
Chr1:186158974 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16396A>C (p.Asn5466His) single nucleotide variant not provided [RCV002957258] Chr1:186182269 [GRCh38]
Chr1:186151401 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6507T>C (p.Thr2169=) single nucleotide variant not provided [RCV002643682] Chr1:186048769 [GRCh38]
Chr1:186017901 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3977C>A (p.Ala1326Asp) single nucleotide variant not provided [RCV002985423]|not specified [RCV004065149] Chr1:186000147 [GRCh38]
Chr1:185969279 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10213G>T (p.Val3405Leu) single nucleotide variant not provided [RCV002740707] Chr1:186094292 [GRCh38]
Chr1:186063424 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10182A>C (p.Ala3394=) single nucleotide variant not provided [RCV003057598] Chr1:186093655 [GRCh38]
Chr1:186062787 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8549C>T (p.Ala2850Val) single nucleotide variant not provided [RCV002700172] Chr1:186078170 [GRCh38]
Chr1:186047302 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14112G>A (p.Ala4704=) single nucleotide variant not provided [RCV003082003] Chr1:186144549 [GRCh38]
Chr1:186113681 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9046+12C>T single nucleotide variant not provided [RCV002625640] Chr1:186086419 [GRCh38]
Chr1:186055551 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13461C>G (p.Asn4487Lys) single nucleotide variant not provided [RCV002829008] Chr1:186136816 [GRCh38]
Chr1:186105948 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5933T>C (p.Ile1978Thr) single nucleotide variant not provided [RCV002595772]|not specified [RCV004068943] Chr1:186038910 [GRCh38]
Chr1:186008042 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.499-6T>A single nucleotide variant not provided [RCV002574849] Chr1:185865735 [GRCh38]
Chr1:185834867 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14099A>G (p.His4700Arg) single nucleotide variant not provided [RCV002625798] Chr1:186144536 [GRCh38]
Chr1:186113668 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13535G>A (p.Arg4512Gln) single nucleotide variant not provided [RCV002572397] Chr1:186136890 [GRCh38]
Chr1:186106022 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5927T>C (p.Ile1976Thr) single nucleotide variant Age related macular degeneration 1 [RCV003455750]|not provided [RCV003108161]|not specified [RCV004087524] Chr1:186038904 [GRCh38]
Chr1:186008036 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12456T>C (p.Asn4152=) single nucleotide variant not provided [RCV002710719] Chr1:186123177 [GRCh38]
Chr1:186092309 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8139+18dup duplication not provided [RCV002800803] Chr1:186070769..186070770 [GRCh38]
Chr1:186039901..186039902 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.3494T>C (p.Leu1165Ser) single nucleotide variant not specified [RCV004165855] Chr1:185993298 [GRCh38]
Chr1:185962430 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14416T>C (p.Cys4806Arg) single nucleotide variant not provided [RCV002801755] Chr1:186145552 [GRCh38]
Chr1:186114684 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12916A>G (p.Ser4306Gly) single nucleotide variant not specified [RCV004152184] Chr1:186129977 [GRCh38]
Chr1:186099109 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8820G>A (p.Arg2940=) single nucleotide variant not provided [RCV002574873] Chr1:186082897 [GRCh38]
Chr1:186052029 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5169C>A (p.Ile1723=) single nucleotide variant not provided [RCV002829199] Chr1:186016217 [GRCh38]
Chr1:185985349 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6029-15A>G single nucleotide variant not provided [RCV002594174] Chr1:186039713 [GRCh38]
Chr1:186008845 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5301-20C>T single nucleotide variant not provided [RCV002572710] Chr1:186018163 [GRCh38]
Chr1:185987295 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2623A>G (p.Lys875Glu) single nucleotide variant not provided [RCV002890936] Chr1:185981034 [GRCh38]
Chr1:185950166 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11000G>A (p.Arg3667Gln) single nucleotide variant not provided [RCV002572212] Chr1:186112822 [GRCh38]
Chr1:186081954 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12060T>C (p.Thr4020=) single nucleotide variant not provided [RCV002871616] Chr1:186119848 [GRCh38]
Chr1:186088980 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10852+18T>C single nucleotide variant not provided [RCV002801113] Chr1:186106983 [GRCh38]
Chr1:186076115 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12347G>T (p.Gly4116Val) single nucleotide variant not provided [RCV002801770] Chr1:186123068 [GRCh38]
Chr1:186092200 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.502G>T (p.Val168Leu) single nucleotide variant not provided [RCV002594602] Chr1:185865744 [GRCh38]
Chr1:185834876 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2739G>A (p.Leu913=) single nucleotide variant not provided [RCV003041007] Chr1:185982338 [GRCh38]
Chr1:185951470 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11562G>T (p.Arg3854Ser) single nucleotide variant not provided [RCV002828422] Chr1:186116994 [GRCh38]
Chr1:186086126 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.200T>C (p.Leu67Ser) single nucleotide variant not provided [RCV002595818] Chr1:185734979 [GRCh38]
Chr1:185704111 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.15258A>T (p.Gly5086=) single nucleotide variant not provided [RCV002572226] Chr1:186165112 [GRCh38]
Chr1:186134244 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6700+14C>A single nucleotide variant not provided [RCV002663724] Chr1:186053088 [GRCh38]
Chr1:186022220 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14196C>A (p.Pro4732=) single nucleotide variant not provided [RCV002889961] Chr1:186144633 [GRCh38]
Chr1:186113765 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5546T>C (p.Ile1849Thr) single nucleotide variant not provided [RCV002663745] Chr1:186019616 [GRCh38]
Chr1:185988748 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12720T>C (p.Val4240=) single nucleotide variant not provided [RCV003022701] Chr1:186128107 [GRCh38]
Chr1:186097239 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.63T>C (p.Ala21=) single nucleotide variant not provided [RCV003082397] Chr1:185734842 [GRCh38]
Chr1:185703974 [GRCh37]
Chr1:1q25.3		 likely benign
NM_031935.3(HMCN1):c.6798C>T (p.Leu2266=) single nucleotide variant not provided [RCV002801779] Chr1:186053922 [GRCh38]
Chr1:186023054 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15018+12G>A single nucleotide variant not provided [RCV002573794] Chr1:186152883 [GRCh38]
Chr1:186122015 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3436G>A (p.Gly1146Arg) single nucleotide variant not specified [RCV004178885] Chr1:185993240 [GRCh38]
Chr1:185962372 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4910-10_4910-3dup duplication not provided [RCV002871901] Chr1:186015946..186015947 [GRCh38]
Chr1:185985078..185985079 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2118A>T (p.Val706=) single nucleotide variant not provided [RCV002572733] Chr1:185965821 [GRCh38]
Chr1:185934953 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16442_16443del (p.Val5481fs) microsatellite not provided [RCV002890016] Chr1:186187908..186187909 [GRCh38]
Chr1:186157040..186157041 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9340A>T (p.Met3114Leu) single nucleotide variant not provided [RCV002801187] Chr1:186087622 [GRCh38]
Chr1:186056754 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16593A>C (p.Pro5531=) single nucleotide variant not provided [RCV002623343] Chr1:186189563 [GRCh38]
Chr1:186158695 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10723G>A (p.Val3575Met) single nucleotide variant not provided [RCV002572749] Chr1:186103621 [GRCh38]
Chr1:186072753 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16746G>A (p.Leu5582=) single nucleotide variant not provided [RCV002572757] Chr1:186189716 [GRCh38]
Chr1:186158848 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13444T>G (p.Trp4482Gly) single nucleotide variant not provided [RCV002786766] Chr1:186136799 [GRCh38]
Chr1:186105931 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13169T>C (p.Ile4390Thr) single nucleotide variant not provided [RCV002642726] Chr1:186130636 [GRCh38]
Chr1:186099768 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12169A>G (p.Met4057Val) single nucleotide variant not provided [RCV002954425] Chr1:186120085 [GRCh38]
Chr1:186089217 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10573G>A (p.Glu3525Lys) single nucleotide variant not provided [RCV003082413] Chr1:186095521 [GRCh38]
Chr1:186064653 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13736A>C (p.Gln4579Pro) single nucleotide variant not provided [RCV002786278] Chr1:186137651 [GRCh38]
Chr1:186106783 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9638G>A (p.Arg3213Gln) single nucleotide variant not provided [RCV002928319] Chr1:186088666 [GRCh38]
Chr1:186057798 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.385G>T (p.Ala129Ser) single nucleotide variant not provided [RCV003056484] Chr1:185864515 [GRCh38]
Chr1:185833647 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13146G>C (p.Gln4382His) single nucleotide variant not provided [RCV002596772]|not specified [RCV004064575] Chr1:186130613 [GRCh38]
Chr1:186099745 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13812C>T (p.Arg4604=) single nucleotide variant not provided [RCV002928257] Chr1:186137860 [GRCh38]
Chr1:186106992 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1223A>G (p.Tyr408Cys) single nucleotide variant not provided [RCV002711139] Chr1:185923591 [GRCh38]
Chr1:185892723 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12333A>G (p.Thr4111=) single nucleotide variant not provided [RCV003024420] Chr1:186123054 [GRCh38]
Chr1:186092186 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.929G>A (p.Arg310His) single nucleotide variant not provided [RCV002626238] Chr1:185922407 [GRCh38]
Chr1:185891539 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6751G>A (p.Gly2251Ser) single nucleotide variant not provided [RCV002626518] Chr1:186053875 [GRCh38]
Chr1:186023007 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6939G>A (p.Glu2313=) single nucleotide variant not provided [RCV002745287] Chr1:186055469 [GRCh38]
Chr1:186024601 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16431G>A (p.Leu5477=) single nucleotide variant not provided [RCV002593582] Chr1:186187899 [GRCh38]
Chr1:186157031 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.274G>T (p.Gly92Cys) single nucleotide variant not provided [RCV003022512] Chr1:185846031 [GRCh38]
Chr1:185815163 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3848G>A (p.Arg1283His) single nucleotide variant Age related macular degeneration 1 [RCV003456291]|not provided [RCV002586398]|not specified [RCV004064463] Chr1:185997498 [GRCh38]
Chr1:185966630 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2935+16A>G single nucleotide variant not provided [RCV003023971] Chr1:185984329 [GRCh38]
Chr1:185953461 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7426+8T>C single nucleotide variant Age related macular degeneration 1 [RCV003445178]|not provided [RCV002625483] Chr1:186061972 [GRCh38]
Chr1:186031104 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1276A>C (p.Ile426Leu) single nucleotide variant not provided [RCV003042508] Chr1:185923644 [GRCh38]
Chr1:185892776 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10389A>C (p.Pro3463=) single nucleotide variant not provided [RCV002667029] Chr1:186095337 [GRCh38]
Chr1:186064469 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.76C>T (p.Pro26Ser) single nucleotide variant not provided [RCV002954241] Chr1:185734855 [GRCh38]
Chr1:185703987 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.13867C>T (p.Arg4623Trp) single nucleotide variant not provided [RCV002954242] Chr1:186137915 [GRCh38]
Chr1:186107047 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.7809T>G (p.Pro2603=) single nucleotide variant Age related macular degeneration 1 [RCV003455568]|not provided [RCV002741858] Chr1:186067937 [GRCh38]
Chr1:186037069 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1407A>G (p.Thr469=) single nucleotide variant not provided [RCV003005391] Chr1:185925168 [GRCh38]
Chr1:185894300 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4119G>A (p.Leu1373=) single nucleotide variant not provided [RCV003059525] Chr1:186001347 [GRCh38]
Chr1:185970479 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4475A>G (p.Lys1492Arg) single nucleotide variant not provided [RCV002642733] Chr1:186003844 [GRCh38]
Chr1:185972976 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10288G>C (p.Val3430Leu) single nucleotide variant not provided [RCV002829808] Chr1:186094367 [GRCh38]
Chr1:186063499 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11812C>A (p.Leu3938Ile) single nucleotide variant not provided [RCV002958281] Chr1:186117587 [GRCh38]
Chr1:186086719 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11789G>A (p.Trp3930Ter) single nucleotide variant not provided [RCV003055964] Chr1:186117564 [GRCh38]
Chr1:186086696 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16125C>T (p.Phe5375=) single nucleotide variant not provided [RCV002801248] Chr1:186178597 [GRCh38]
Chr1:186147729 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4348+20A>T single nucleotide variant not provided [RCV002573839] Chr1:186001761 [GRCh38]
Chr1:185970893 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.9252C>T (p.Asn3084=) single nucleotide variant not provided [RCV002642977] Chr1:186087534 [GRCh38]
Chr1:186056666 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5154A>G (p.Ala1718=) single nucleotide variant not provided [RCV002666797] Chr1:186016202 [GRCh38]
Chr1:185985334 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2099-17G>A single nucleotide variant not provided [RCV002575661] Chr1:185965785 [GRCh38]
Chr1:185934917 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2744C>T (p.Ala915Val) single nucleotide variant not provided [RCV002805550]|not specified [RCV004064739] Chr1:185982343 [GRCh38]
Chr1:185951475 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9492G>A (p.Thr3164=) single nucleotide variant not provided [RCV002597138] Chr1:186088191 [GRCh38]
Chr1:186057323 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14316G>C (p.Thr4772=) single nucleotide variant not provided [RCV003056243] Chr1:186145452 [GRCh38]
Chr1:186114584 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12378C>T (p.Arg4126=) single nucleotide variant not provided [RCV002700078] Chr1:186123099 [GRCh38]
Chr1:186092231 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16118C>T (p.Ala5373Val) single nucleotide variant not provided [RCV002852267] Chr1:186178590 [GRCh38]
Chr1:186147722 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5584A>G (p.Lys1862Glu) single nucleotide variant not provided [RCV003082782] Chr1:186019654 [GRCh38]
Chr1:185988786 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8629G>A (p.Asp2877Asn) single nucleotide variant not provided [RCV002765381] Chr1:186081236 [GRCh38]
Chr1:186050368 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6239G>A (p.Arg2080Lys) single nucleotide variant not specified [RCV004147826] Chr1:186041071 [GRCh38]
Chr1:186010203 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14597A>T (p.Gln4866Leu) single nucleotide variant not provided [RCV002982146] Chr1:186145912 [GRCh38]
Chr1:186115044 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12112C>T (p.Leu4038Phe) single nucleotide variant not provided [RCV003056023] Chr1:186120028 [GRCh38]
Chr1:186089160 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3291A>G (p.Val1097=) single nucleotide variant not provided [RCV002917619] Chr1:185990357 [GRCh38]
Chr1:185959489 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5605A>G (p.Thr1869Ala) single nucleotide variant not provided [RCV002932056] Chr1:186019675 [GRCh38]
Chr1:185988807 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8418T>C (p.Pro2806=) single nucleotide variant not provided [RCV003024810] Chr1:186076555 [GRCh38]
Chr1:186045687 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8425C>T (p.Leu2809=) single nucleotide variant not provided [RCV002623516] Chr1:186076562 [GRCh38]
Chr1:186045694 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3049-14G>A single nucleotide variant not provided [RCV002786633] Chr1:185989474 [GRCh38]
Chr1:185958606 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10989+3A>C single nucleotide variant not provided [RCV002852555] Chr1:186108600 [GRCh38]
Chr1:186077732 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4782A>T (p.Ala1594=) single nucleotide variant not provided [RCV002932970] Chr1:186015310 [GRCh38]
Chr1:185984442 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15941T>C (p.Met5314Thr) single nucleotide variant Age related macular degeneration 1 [RCV003456297]|not provided [RCV002770693]|not specified [RCV004064742] Chr1:186174640 [GRCh38]
Chr1:186143772 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7816A>G (p.Thr2606Ala) single nucleotide variant not provided [RCV002700952] Chr1:186067944 [GRCh38]
Chr1:186037076 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12537G>A (p.Thr4179=) single nucleotide variant HMCN1-related disorder [RCV003898458]|not provided [RCV002626666] Chr1:186125641 [GRCh38]
Chr1:186094773 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6969A>G (p.Thr2323=) single nucleotide variant HMCN1-related disorder [RCV003963679]|not provided [RCV002595840] Chr1:186055499 [GRCh38]
Chr1:186024631 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15710A>T (p.Asn5237Ile) single nucleotide variant not provided [RCV003042390] Chr1:186172027 [GRCh38]
Chr1:186141159 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1970+12G>A single nucleotide variant not provided [RCV002791145] Chr1:185962671 [GRCh38]
Chr1:185931803 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5905T>C (p.Phe1969Leu) single nucleotide variant not provided [RCV002805475] Chr1:186038882 [GRCh38]
Chr1:186008014 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12788C>T (p.Thr4263Ile) single nucleotide variant not provided [RCV002576035] Chr1:186128175 [GRCh38]
Chr1:186097307 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1568T>C (p.Ile523Thr) single nucleotide variant not provided [RCV002741775] Chr1:185933564 [GRCh38]
Chr1:185902696 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1354T>C (p.Ser452Pro) single nucleotide variant not provided [RCV003005756] Chr1:185925115 [GRCh38]
Chr1:185894247 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2105C>T (p.Pro702Leu) single nucleotide variant not provided [RCV002700697] Chr1:185965808 [GRCh38]
Chr1:185934940 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12178G>A (p.Ala4060Thr) single nucleotide variant not provided [RCV002596974] Chr1:186120094 [GRCh38]
Chr1:186089226 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6570C>T (p.Asn2190=) single nucleotide variant not provided [RCV002851678] Chr1:186048832 [GRCh38]
Chr1:186017964 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.622-18del deletion not provided [RCV002575523] Chr1:185909318 [GRCh38]
Chr1:185878450 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1527G>C (p.Arg509=) single nucleotide variant not provided [RCV002875876] Chr1:185928642 [GRCh38]
Chr1:185897774 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11826T>A (p.Asp3942Glu) single nucleotide variant not provided [RCV002663252]|not specified [RCV004632044] Chr1:186117601 [GRCh38]
Chr1:186086733 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6812C>T (p.Ala2271Val) single nucleotide variant not provided [RCV002625424] Chr1:186053936 [GRCh38]
Chr1:186023068 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12041C>T (p.Thr4014Ile) single nucleotide variant not provided [RCV002918589] Chr1:186119829 [GRCh38]
Chr1:186088961 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11412A>G (p.Pro3804=) single nucleotide variant not provided [RCV002626718] Chr1:186115265 [GRCh38]
Chr1:186084397 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9161-19T>C single nucleotide variant not provided [RCV002914600] Chr1:186087424 [GRCh38]
Chr1:186056556 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.667C>A (p.Leu223Ile) single nucleotide variant not provided [RCV002766162] Chr1:185909382 [GRCh38]
Chr1:185878514 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7558C>T (p.Leu2520Phe) single nucleotide variant not provided [RCV002741654] Chr1:186065282 [GRCh38]
Chr1:186034414 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2375C>T (p.Pro792Leu) single nucleotide variant not provided [RCV002642474] Chr1:185977790 [GRCh38]
Chr1:185946922 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9935C>A (p.Ser3312Tyr) single nucleotide variant not provided [RCV002643309] Chr1:186093181 [GRCh38]
Chr1:186062313 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10797T>C (p.Cys3599=) single nucleotide variant not provided [RCV002766843] Chr1:186106910 [GRCh38]
Chr1:186076042 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15199G>T (p.Asp5067Tyr) single nucleotide variant not provided [RCV003059157] Chr1:186153930 [GRCh38]
Chr1:186123062 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7065A>G (p.Val2355=) single nucleotide variant not provided [RCV002740706] Chr1:186055595 [GRCh38]
Chr1:186024727 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14316G>A (p.Thr4772=) single nucleotide variant not provided [RCV002572381] Chr1:186145452 [GRCh38]
Chr1:186114584 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5469T>C (p.His1823=) single nucleotide variant not provided [RCV003085045] Chr1:186018351 [GRCh38]
Chr1:185987483 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11153G>T (p.Gly3718Val) single nucleotide variant not provided [RCV003059442] Chr1:186114000 [GRCh38]
Chr1:186083132 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14134T>C (p.Cys4712Arg) single nucleotide variant not provided [RCV002626673] Chr1:186144571 [GRCh38]
Chr1:186113703 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4678T>C (p.Leu1560=) single nucleotide variant not provided [RCV002593669] Chr1:186015206 [GRCh38]
Chr1:185984338 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.451C>T (p.Arg151Trp) single nucleotide variant Age related macular degeneration 1 [RCV003455541]|not provided [RCV002625504]|not specified [RCV004065676] Chr1:185864581 [GRCh38]
Chr1:185833713 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13618G>A (p.Ala4540Thr) single nucleotide variant not provided [RCV002741762] Chr1:186137533 [GRCh38]
Chr1:186106665 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7426+13T>A single nucleotide variant not provided [RCV002741776] Chr1:186061977 [GRCh38]
Chr1:186031109 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6349A>C (p.Ile2117Leu) single nucleotide variant not provided [RCV003005763] Chr1:186045732 [GRCh38]
Chr1:186014864 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13969G>A (p.Glu4657Lys) single nucleotide variant not provided [RCV002700166] Chr1:186144217 [GRCh38]
Chr1:186113349 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2099-4dup duplication HMCN1-related disorder [RCV003916534]|not provided [RCV002790295] Chr1:185965791..185965792 [GRCh38]
Chr1:185934923..185934924 [GRCh37]
Chr1:1q31.1		 benign|likely benign
NM_031935.3(HMCN1):c.7873C>A (p.Leu2625Ile) single nucleotide variant not provided [RCV003007452] Chr1:186068001 [GRCh38]
Chr1:186037133 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2099-18C>T single nucleotide variant not provided [RCV002575767] Chr1:185965784 [GRCh38]
Chr1:185934916 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9462A>T (p.Glu3154Asp) single nucleotide variant not provided [RCV002574544] Chr1:186088161 [GRCh38]
Chr1:186057293 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11880C>T (p.Asn3960=) single nucleotide variant not provided [RCV003025094] Chr1:186119222 [GRCh38]
Chr1:186088354 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11757T>C (p.Thr3919=) single nucleotide variant not provided [RCV002741761] Chr1:186117532 [GRCh38]
Chr1:186086664 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9800T>C (p.Val3267Ala) single nucleotide variant not provided [RCV002710797] Chr1:186090830 [GRCh38]
Chr1:186059962 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16339A>G (p.Lys5447Glu) single nucleotide variant not provided [RCV002667318] Chr1:186182212 [GRCh38]
Chr1:186151344 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10563C>T (p.Leu3521=) single nucleotide variant not provided [RCV003022994] Chr1:186095511 [GRCh38]
Chr1:186064643 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15019G>A (p.Asp5007Asn) single nucleotide variant not provided [RCV002594778] Chr1:186153750 [GRCh38]
Chr1:186122882 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5191+11A>T single nucleotide variant not provided [RCV002574260] Chr1:186016250 [GRCh38]
Chr1:185985382 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2562T>C (p.Ile854=) single nucleotide variant not provided [RCV003024442] Chr1:185977977 [GRCh38]
Chr1:185947109 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11743G>A (p.Val3915Ile) single nucleotide variant Age related macular degeneration 1 [RCV003455569]|not provided [RCV002766250]|not specified [RCV004067916] Chr1:186117518 [GRCh38]
Chr1:186086650 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3688C>A (p.Gln1230Lys) single nucleotide variant not provided [RCV002643644]|not specified [RCV004070620] Chr1:185994997 [GRCh38]
Chr1:185964129 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11168T>C (p.Val3723Ala) single nucleotide variant not provided [RCV002711868] Chr1:186114015 [GRCh38]
Chr1:186083147 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11848+7C>T single nucleotide variant not provided [RCV002958547] Chr1:186117630 [GRCh38]
Chr1:186086762 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10299A>G (p.Pro3433=) single nucleotide variant not provided [RCV002957271] Chr1:186095247 [GRCh38]
Chr1:186064379 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15574+20T>C single nucleotide variant not provided [RCV002700613] Chr1:186166962 [GRCh38]
Chr1:186136094 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13583-15A>G single nucleotide variant not provided [RCV002626091] Chr1:186137483 [GRCh38]
Chr1:186106615 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11561+20_11561+22del deletion not provided [RCV002985716] Chr1:186115432..186115434 [GRCh38]
Chr1:186084564..186084566 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2470A>G (p.Ile824Val) single nucleotide variant not provided [RCV002596392] Chr1:185977885 [GRCh38]
Chr1:185947017 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11131+10G>T single nucleotide variant not provided [RCV003007492] Chr1:186112963 [GRCh38]
Chr1:186082095 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8969G>T (p.Gly2990Val) single nucleotide variant not specified [RCV004094080] Chr1:186086330 [GRCh38]
Chr1:186055462 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13434C>T (p.His4478=) single nucleotide variant not provided [RCV002642203] Chr1:186136789 [GRCh38]
Chr1:186105921 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6799T>C (p.Tyr2267His) single nucleotide variant not provided [RCV002572594] Chr1:186053923 [GRCh38]
Chr1:186023055 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2213-17C>T single nucleotide variant not provided [RCV002593874] Chr1:185970318 [GRCh38]
Chr1:185939450 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15256+5T>A single nucleotide variant not provided [RCV002828499] Chr1:186153992 [GRCh38]
Chr1:186123124 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2467A>G (p.Thr823Ala) single nucleotide variant not provided [RCV002625255] Chr1:185977882 [GRCh38]
Chr1:185947014 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11012T>C (p.Leu3671Pro) single nucleotide variant not provided [RCV002932195] Chr1:186112834 [GRCh38]
Chr1:186081966 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15129T>C (p.Val5043=) single nucleotide variant not provided [RCV003007510] Chr1:186153860 [GRCh38]
Chr1:186122992 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1576C>T (p.Pro526Ser) single nucleotide variant not provided [RCV003059376] Chr1:185933572 [GRCh38]
Chr1:185902704 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5066G>A (p.Arg1689His) single nucleotide variant not provided [RCV002958089] Chr1:186016114 [GRCh38]
Chr1:185985246 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11158C>A (p.Gln3720Lys) single nucleotide variant not provided [RCV003025599] Chr1:186114005 [GRCh38]
Chr1:186083137 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10976G>C (p.Gly3659Ala) single nucleotide variant not provided [RCV002790963] Chr1:186108584 [GRCh38]
Chr1:186077716 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10989+4A>C single nucleotide variant not provided [RCV003056312] Chr1:186108601 [GRCh38]
Chr1:186077733 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2040T>A (p.Gly680=) single nucleotide variant not provided [RCV002954375] Chr1:185963837 [GRCh38]
Chr1:185932969 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8585A>G (p.Asp2862Gly) single nucleotide variant not provided [RCV003057369] Chr1:186078206 [GRCh38]
Chr1:186047338 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7365T>C (p.Tyr2455=) single nucleotide variant not provided [RCV002643292] Chr1:186061903 [GRCh38]
Chr1:186031035 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13889T>C (p.Val4630Ala) single nucleotide variant not provided [RCV003083855] Chr1:186137937 [GRCh38]
Chr1:186107069 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12066A>G (p.Gln4022=) single nucleotide variant not provided [RCV002852646] Chr1:186119854 [GRCh38]
Chr1:186088986 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12507C>G (p.Pro4169=) single nucleotide variant not provided [RCV002852995] Chr1:186125611 [GRCh38]
Chr1:186094743 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13686C>G (p.Ala4562=) single nucleotide variant not provided [RCV002712114] Chr1:186137601 [GRCh38]
Chr1:186106733 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13278G>A (p.Gly4426=) single nucleotide variant not provided [RCV002626591] Chr1:186132375 [GRCh38]
Chr1:186101507 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4583C>T (p.Ser1528Phe) single nucleotide variant not provided [RCV002626593] Chr1:186007235 [GRCh38]
Chr1:185976367 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16873A>G (p.Ile5625Val) single nucleotide variant not provided [RCV003040655] Chr1:186189843 [GRCh38]
Chr1:186158975 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4936G>A (p.Ala1646Thr) single nucleotide variant Age related macular degeneration 1 [RCV003455732]|not provided [RCV002623815]|not specified [RCV004070651] Chr1:186015984 [GRCh38]
Chr1:185985116 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5335G>C (p.Asp1779His) single nucleotide variant not provided [RCV002801631] Chr1:186018217 [GRCh38]
Chr1:185987349 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13810C>T (p.Arg4604Cys) single nucleotide variant not provided [RCV003083402] Chr1:186137858 [GRCh38]
Chr1:186106990 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14609-13T>G single nucleotide variant not provided [RCV002711095] Chr1:186151187 [GRCh38]
Chr1:186120319 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12604T>A (p.Trp4202Arg) single nucleotide variant not provided [RCV002700988] Chr1:186125708 [GRCh38]
Chr1:186094840 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13039+6G>A single nucleotide variant not provided [RCV002829856] Chr1:186130106 [GRCh38]
Chr1:186099238 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4820G>A (p.Arg1607Gln) single nucleotide variant not provided [RCV002954374] Chr1:186015348 [GRCh38]
Chr1:185984480 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15329A>C (p.Glu5110Ala) single nucleotide variant not provided [RCV003022727] Chr1:186166193 [GRCh38]
Chr1:186135325 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16819G>A (p.Val5607Ile) single nucleotide variant not provided [RCV002957481] Chr1:186189789 [GRCh38]
Chr1:186158921 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7216T>C (p.Leu2406=) single nucleotide variant not provided [RCV002766519] Chr1:186057305 [GRCh38]
Chr1:186026437 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10363A>C (p.Met3455Leu) single nucleotide variant not provided [RCV003082398] Chr1:186095311 [GRCh38]
Chr1:186064443 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9727+1G>T single nucleotide variant not provided [RCV003026432] Chr1:186088756 [GRCh38]
Chr1:186057888 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1434A>G (p.Glu478=) single nucleotide variant not provided [RCV002770491] Chr1:185928549 [GRCh38]
Chr1:185897681 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8926G>A (p.Val2976Ile) single nucleotide variant not provided [RCV003088625] Chr1:186086287 [GRCh38]
Chr1:186055419 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16027C>T (p.Pro5343Ser) single nucleotide variant not provided [RCV002899787] Chr1:186178499 [GRCh38]
Chr1:186147631 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14428A>G (p.Met4810Val) single nucleotide variant not provided [RCV002600677] Chr1:186145564 [GRCh38]
Chr1:186114696 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9142T>C (p.Phe3048Leu) single nucleotide variant not provided [RCV002675914] Chr1:186087312 [GRCh38]
Chr1:186056444 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16120C>T (p.Arg5374Trp) single nucleotide variant not provided [RCV003091718] Chr1:186178592 [GRCh38]
Chr1:186147724 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9857C>A (p.Pro3286His) single nucleotide variant not specified [RCV004069439] Chr1:186090887 [GRCh38]
Chr1:186060019 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1552+9del deletion not provided [RCV003048711] Chr1:185928675 [GRCh38]
Chr1:185897807 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1189C>G (p.Pro397Ala) single nucleotide variant not provided [RCV002632912] Chr1:185923557 [GRCh38]
Chr1:185892689 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13040-18T>A single nucleotide variant not provided [RCV002580153] Chr1:186130489 [GRCh38]
Chr1:186099621 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10996C>T (p.Pro3666Ser) single nucleotide variant Age related macular degeneration 1 [RCV003455651]|not provided [RCV003011425]|not specified [RCV004068453] Chr1:186112818 [GRCh38]
Chr1:186081950 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13386G>A (p.Gln4462=) single nucleotide variant not provided [RCV003048737] Chr1:186136741 [GRCh38]
Chr1:186105873 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6822T>C (p.Val2274=) single nucleotide variant not provided [RCV002601777] Chr1:186053946 [GRCh38]
Chr1:186023078 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11544A>G (p.Gln3848=) single nucleotide variant not provided [RCV002631851] Chr1:186115397 [GRCh38]
Chr1:186084529 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15556G>A (p.Asp5186Asn) single nucleotide variant not provided [RCV002937577] Chr1:186166924 [GRCh38]
Chr1:186136056 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14478C>T (p.Cys4826=) single nucleotide variant not provided [RCV003049404] Chr1:186145793 [GRCh38]
Chr1:186114925 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.340-9A>G single nucleotide variant not provided [RCV002632443] Chr1:185864461 [GRCh38]
Chr1:185833593 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16844A>G (p.Asn5615Ser) single nucleotide variant not provided [RCV002602795] Chr1:186189814 [GRCh38]
Chr1:186158946 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10665C>T (p.Ile3555=) single nucleotide variant not provided [RCV002580332] Chr1:186103563 [GRCh38]
Chr1:186072695 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15778A>G (p.Asn5260Asp) single nucleotide variant not provided [RCV002721269] Chr1:186172095 [GRCh38]
Chr1:186141227 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9888-4G>A single nucleotide variant not provided [RCV002967381] Chr1:186093130 [GRCh38]
Chr1:186062262 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16414+15G>C single nucleotide variant not provided [RCV002856690] Chr1:186182302 [GRCh38]
Chr1:186151434 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12093A>C (p.Ser4031=) single nucleotide variant not provided [RCV002602285] Chr1:186119881 [GRCh38]
Chr1:186089013 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5036G>A (p.Gly1679Asp) single nucleotide variant not provided [RCV002938746] Chr1:186016084 [GRCh38]
Chr1:185985216 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7880-4A>C single nucleotide variant not provided [RCV002632143] Chr1:186069659 [GRCh38]
Chr1:186038791 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6386C>T (p.Ala2129Val) single nucleotide variant not provided [RCV002746769] Chr1:186045769 [GRCh38]
Chr1:186014901 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6061G>A (p.Val2021Met) single nucleotide variant not provided [RCV002675701] Chr1:186039760 [GRCh38]
Chr1:186008892 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16614C>T (p.Leu5538=) single nucleotide variant not provided [RCV002632907] Chr1:186189584 [GRCh38]
Chr1:186158716 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10981C>T (p.Arg3661Trp) single nucleotide variant not provided [RCV002715135] Chr1:186108589 [GRCh38]
Chr1:186077721 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14199G>A (p.Gln4733=) single nucleotide variant not provided [RCV002937780] Chr1:186144636 [GRCh38]
Chr1:186113768 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7908A>C (p.Ala2636=) single nucleotide variant not provided [RCV002582086] Chr1:186069691 [GRCh38]
Chr1:186038823 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15049C>G (p.Pro5017Ala) single nucleotide variant not provided [RCV002650104] Chr1:186153780 [GRCh38]
Chr1:186122912 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7880-19A>G single nucleotide variant not provided [RCV002721295] Chr1:186069644 [GRCh38]
Chr1:186038776 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10140A>G (p.Gly3380=) single nucleotide variant HMCN1-related disorder [RCV003926704]|not provided [RCV003092126] Chr1:186093613 [GRCh38]
Chr1:186062745 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12545A>G (p.Glu4182Gly) single nucleotide variant not provided [RCV003091786] Chr1:186125649 [GRCh38]
Chr1:186094781 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9771T>G (p.Ser3257Arg) single nucleotide variant Age related macular degeneration 1 [RCV003455607]|not provided [RCV002922945]|not specified [RCV004067109] Chr1:186090801 [GRCh38]
Chr1:186059933 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1301C>T (p.Thr434Met) single nucleotide variant not provided [RCV002676468] Chr1:185925062 [GRCh38]
Chr1:185894194 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16701A>T (p.Thr5567=) single nucleotide variant not provided [RCV003066023] Chr1:186189671 [GRCh38]
Chr1:186158803 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16886C>G (p.Ala5629Gly) single nucleotide variant Age related macular degeneration 1 [RCV003456308]|not provided [RCV002632390]|not specified [RCV004069052] Chr1:186189856 [GRCh38]
Chr1:186158988 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14965G>A (p.Val4989Ile) single nucleotide variant not provided [RCV002597398] Chr1:186152818 [GRCh38]
Chr1:186121950 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10010A>G (p.Tyr3337Cys) single nucleotide variant not provided [RCV003045279] Chr1:186093256 [GRCh38]
Chr1:186062388 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15526C>T (p.Arg5176Cys) single nucleotide variant not provided [RCV002599555] Chr1:186166894 [GRCh38]
Chr1:186136026 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1559C>T (p.Pro520Leu) single nucleotide variant not specified [RCV004136479] Chr1:185933555 [GRCh38]
Chr1:185902687 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.438G>A (p.Arg146=) single nucleotide variant not provided [RCV002720753] Chr1:185864568 [GRCh38]
Chr1:185833700 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6305-6A>C single nucleotide variant not provided [RCV002966884] Chr1:186045682 [GRCh38]
Chr1:186014814 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10467G>T (p.Met3489Ile) single nucleotide variant not provided [RCV002602220] Chr1:186095415 [GRCh38]
Chr1:186064547 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1415T>G (p.Val472Gly) single nucleotide variant not provided [RCV002745968] Chr1:185925176 [GRCh38]
Chr1:185894308 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3491A>G (p.Lys1164Arg) single nucleotide variant not provided [RCV002715261]|not specified [RCV004617078] Chr1:185993295 [GRCh38]
Chr1:185962427 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9131G>A (p.Ser3044Asn) single nucleotide variant not provided [RCV003027280] Chr1:186087301 [GRCh38]
Chr1:186056433 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6804A>G (p.Ser2268=) single nucleotide variant not provided [RCV002671614] Chr1:186053928 [GRCh38]
Chr1:186023060 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5066G>T (p.Arg1689Leu) single nucleotide variant not provided [RCV003063346] Chr1:186016114 [GRCh38]
Chr1:185985246 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2748A>G (p.Gly916=) single nucleotide variant not provided [RCV003089663] Chr1:185982347 [GRCh38]
Chr1:185951479 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4781C>T (p.Ala1594Val) single nucleotide variant not provided [RCV002631590] Chr1:186015309 [GRCh38]
Chr1:185984441 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15551C>T (p.Thr5184Ile) single nucleotide variant not provided [RCV002602668] Chr1:186166919 [GRCh38]
Chr1:186136051 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8766A>G (p.Leu2922=) single nucleotide variant not provided [RCV003047160] Chr1:186081373 [GRCh38]
Chr1:186050505 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11484T>C (p.Thr3828=) single nucleotide variant not provided [RCV002601405] Chr1:186115337 [GRCh38]
Chr1:186084469 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16703C>T (p.Thr5568Ile) single nucleotide variant not provided [RCV002628410]|not specified [RCV004070583] Chr1:186189673 [GRCh38]
Chr1:186158805 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16347C>T (p.Thr5449=) single nucleotide variant not provided [RCV002810401] Chr1:186182220 [GRCh38]
Chr1:186151352 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12325G>A (p.Asp4109Asn) single nucleotide variant not provided [RCV002676185] Chr1:186123046 [GRCh38]
Chr1:186092178 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13858C>T (p.His4620Tyr) single nucleotide variant not provided [RCV002630871] Chr1:186137906 [GRCh38]
Chr1:186107038 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12905-18G>T single nucleotide variant not provided [RCV002649788] Chr1:186129948 [GRCh38]
Chr1:186099080 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9491C>T (p.Thr3164Met) single nucleotide variant Age related macular degeneration 1 [RCV003456293]|not provided [RCV002597493]|not specified [RCV004065623] Chr1:186088190 [GRCh38]
Chr1:186057322 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8140C>G (p.Pro2714Ala) single nucleotide variant Age related macular degeneration 1 [RCV003455538]|not provided [RCV002600788]|not specified [RCV004065580] Chr1:186074741 [GRCh38]
Chr1:186043873 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13754-19A>C single nucleotide variant not provided [RCV002631694] Chr1:186137783 [GRCh38]
Chr1:186106915 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15290C>A (p.Thr5097Asn) single nucleotide variant not provided [RCV003048996] Chr1:186165144 [GRCh38]
Chr1:186134276 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8833G>A (p.Ala2945Thr) single nucleotide variant not provided [RCV002676418] Chr1:186082910 [GRCh38]
Chr1:186052042 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8669C>A (p.Ala2890Glu) single nucleotide variant not provided [RCV003047244] Chr1:186081276 [GRCh38]
Chr1:186050408 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.771G>T (p.Met257Ile) single nucleotide variant not provided [RCV002632648]|not specified [RCV004069078] Chr1:185909486 [GRCh38]
Chr1:185878618 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16654A>T (p.Ile5552Phe) single nucleotide variant not provided [RCV002649840] Chr1:186189624 [GRCh38]
Chr1:186158756 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10225G>A (p.Ala3409Thr) single nucleotide variant not provided [RCV002580022] Chr1:186094304 [GRCh38]
Chr1:186063436 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.598C>T (p.Leu200=) single nucleotide variant not provided [RCV003049017] Chr1:185865840 [GRCh38]
Chr1:185834972 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.688G>T (p.Glu230Ter) single nucleotide variant not provided [RCV003027076] Chr1:185909403 [GRCh38]
Chr1:185878535 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5687A>G (p.Tyr1896Cys) single nucleotide variant not provided [RCV003044545] Chr1:186023091 [GRCh38]
Chr1:185992223 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2935+11C>T single nucleotide variant not provided [RCV002577483] Chr1:185984324 [GRCh38]
Chr1:185953456 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12230-11G>C single nucleotide variant not provided [RCV002937307] Chr1:186122940 [GRCh38]
Chr1:186092072 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7144+15G>C single nucleotide variant not provided [RCV002598041] Chr1:186055689 [GRCh38]
Chr1:186024821 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10153C>G (p.Leu3385Val) single nucleotide variant not provided [RCV003086732] Chr1:186093626 [GRCh38]
Chr1:186062758 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15996C>T (p.Asn5332=) single nucleotide variant not provided [RCV002577418] Chr1:186178468 [GRCh38]
Chr1:186147600 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10103G>C (p.Gly3368Ala) single nucleotide variant not provided [RCV002806253] Chr1:186093576 [GRCh38]
Chr1:186062708 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6577+8T>A single nucleotide variant not provided [RCV003044055] Chr1:186048847 [GRCh38]
Chr1:186017979 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.54T>C (p.Ser18=) single nucleotide variant not provided [RCV003009114] Chr1:185734833 [GRCh38]
Chr1:185703965 [GRCh37]
Chr1:1q25.3		 likely benign
NM_031935.3(HMCN1):c.3812A>G (p.Tyr1271Cys) single nucleotide variant not provided [RCV003060566] Chr1:185997462 [GRCh38]
Chr1:185966594 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.498+18C>T single nucleotide variant not provided [RCV002577497] Chr1:185864646 [GRCh38]
Chr1:185833778 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15126C>T (p.Thr5042=) single nucleotide variant HMCN1-related disorder [RCV003918939]|not provided [RCV002629394] Chr1:186153857 [GRCh38]
Chr1:186122989 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12006C>T (p.Asn4002=) single nucleotide variant not provided [RCV002716420] Chr1:186119794 [GRCh38]
Chr1:186088926 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5076T>C (p.Ala1692=) single nucleotide variant not provided [RCV002715585] Chr1:186016124 [GRCh38]
Chr1:185985256 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15815-4G>A single nucleotide variant not provided [RCV002647126] Chr1:186174510 [GRCh38]
Chr1:186143642 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10295-6A>G single nucleotide variant not provided [RCV002600606] Chr1:186095237 [GRCh38]
Chr1:186064369 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16273G>A (p.Ala5425Thr) single nucleotide variant not provided [RCV003546873]|not specified [RCV004095524] Chr1:186178745 [GRCh38]
Chr1:186147877 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3900G>T (p.Trp1300Cys) single nucleotide variant not provided [RCV002647059] Chr1:186000070 [GRCh38]
Chr1:185969202 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.456C>T (p.Leu152=) single nucleotide variant not provided [RCV002715114] Chr1:185864586 [GRCh38]
Chr1:185833718 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.781C>T (p.Arg261Cys) single nucleotide variant Age related macular degeneration 1 [RCV003456307]|not provided [RCV002598695]|not specified [RCV004073374] Chr1:185909496 [GRCh38]
Chr1:185878628 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13908C>T (p.Asn4636=) single nucleotide variant not provided [RCV002715989] Chr1:186137956 [GRCh38]
Chr1:186107088 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4910T>G (p.Val1637Gly) single nucleotide variant not provided [RCV003045478] Chr1:186015958 [GRCh38]
Chr1:185985090 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7968A>G (p.Ile2656Met) single nucleotide variant not provided [RCV002938105]|not specified [RCV004066999] Chr1:186069751 [GRCh38]
Chr1:186038883 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.7144+11A>G single nucleotide variant not provided [RCV002833077] Chr1:186055685 [GRCh38]
Chr1:186024817 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4752C>A (p.Asp1584Glu) single nucleotide variant not provided [RCV003029019] Chr1:186015280 [GRCh38]
Chr1:185984412 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.276C>T (p.Gly92=) single nucleotide variant not provided [RCV002895831] Chr1:185846033 [GRCh38]
Chr1:185815165 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4113G>C (p.Ser1371=) single nucleotide variant not provided [RCV002670715] Chr1:186001341 [GRCh38]
Chr1:185970473 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.269-20T>C single nucleotide variant not provided [RCV002716744] Chr1:185846006 [GRCh38]
Chr1:185815138 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14911A>C (p.Met4971Leu) single nucleotide variant not provided [RCV003046641] Chr1:186152764 [GRCh38]
Chr1:186121896 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16039T>C (p.Leu5347=) single nucleotide variant not provided [RCV002877023] Chr1:186178511 [GRCh38]
Chr1:186147643 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9126C>T (p.Gly3042=) single nucleotide variant not provided [RCV003008910] Chr1:186087296 [GRCh38]
Chr1:186056428 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16142A>G (p.Asn5381Ser) single nucleotide variant not provided [RCV002715368] Chr1:186178614 [GRCh38]
Chr1:186147746 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.709_710inv (p.Arg237Leu) inversion not provided [RCV002670737] Chr1:185909424..185909425 [GRCh38]
Chr1:185878556..185878557 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6682C>T (p.Leu2228Phe) single nucleotide variant not provided [RCV002579167] Chr1:186053056 [GRCh38]
Chr1:186022188 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6574T>C (p.Trp2192Arg) single nucleotide variant not provided [RCV002670749] Chr1:186048836 [GRCh38]
Chr1:186017968 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14941G>A (p.Asp4981Asn) single nucleotide variant not provided [RCV002962581] Chr1:186152794 [GRCh38]
Chr1:186121926 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3870A>G (p.Ala1290=) single nucleotide variant not provided [RCV002578660] Chr1:185997520 [GRCh38]
Chr1:185966652 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7241C>T (p.Pro2414Leu) single nucleotide variant not specified [RCV004129651] Chr1:186057330 [GRCh38]
Chr1:186026462 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2936-14A>G single nucleotide variant not provided [RCV002717259] Chr1:185987418 [GRCh38]
Chr1:185956550 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13726C>T (p.Arg4576Ter) single nucleotide variant not provided [RCV002630657] Chr1:186137641 [GRCh38]
Chr1:186106773 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15574+8A>G single nucleotide variant not provided [RCV003087240] Chr1:186166950 [GRCh38]
Chr1:186136082 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9087T>C (p.Asp3029=) single nucleotide variant not provided [RCV002670944] Chr1:186087257 [GRCh38]
Chr1:186056389 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10168C>T (p.Arg3390Trp) single nucleotide variant Age related macular degeneration 1 [RCV003455638]|not provided [RCV002962606]|not specified [RCV004068295] Chr1:186093641 [GRCh38]
Chr1:186062773 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7585A>G (p.Ile2529Val) single nucleotide variant not provided [RCV002597824] Chr1:186065309 [GRCh38]
Chr1:186034441 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2507C>A (p.Ser836Ter) single nucleotide variant not provided [RCV003009484] Chr1:185977922 [GRCh38]
Chr1:185947054 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1949T>C (p.Met650Thr) single nucleotide variant not provided [RCV002962366] Chr1:185962638 [GRCh38]
Chr1:185931770 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1402G>A (p.Val468Ile) single nucleotide variant HMCN1-related disorder [RCV003973675]|not provided [RCV003088441] Chr1:185925163 [GRCh38]
Chr1:185894295 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.4630+8C>T single nucleotide variant HMCN1-related disorder [RCV003973676]|not provided [RCV003088442] Chr1:186007290 [GRCh38]
Chr1:185976422 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.9445+11G>A single nucleotide variant not provided [RCV003028861] Chr1:186088024 [GRCh38]
Chr1:186057156 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16322C>A (p.Ala5441Asp) single nucleotide variant not specified [RCV004163445] Chr1:186182195 [GRCh38]
Chr1:186151327 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15302T>C (p.Val5101Ala) single nucleotide variant not provided [RCV002599418] Chr1:186165156 [GRCh38]
Chr1:186134288 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9287A>C (p.Asn3096Thr) single nucleotide variant not provided [RCV002746358] Chr1:186087569 [GRCh38]
Chr1:186056701 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15828T>C (p.Cys5276=) single nucleotide variant not provided [RCV002579251] Chr1:186174527 [GRCh38]
Chr1:186143659 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13862G>A (p.Gly4621Asp) single nucleotide variant not provided [RCV002649339] Chr1:186137910 [GRCh38]
Chr1:186107042 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15689-10T>C single nucleotide variant not provided [RCV002600326] Chr1:186171996 [GRCh38]
Chr1:186141128 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16823G>A (p.Arg5608Gln) single nucleotide variant not provided [RCV003089320] Chr1:186189793 [GRCh38]
Chr1:186158925 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4767G>T (p.Met1589Ile) single nucleotide variant not provided [RCV002576913] Chr1:186015295 [GRCh38]
Chr1:185984427 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5532C>T (p.Val1844=) single nucleotide variant not provided [RCV002770288] Chr1:186019602 [GRCh38]
Chr1:185988734 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16173C>G (p.Tyr5391Ter) single nucleotide variant not provided [RCV003027894] Chr1:186178645 [GRCh38]
Chr1:186147777 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16213A>G (p.Arg5405Gly) single nucleotide variant not provided [RCV003027895] Chr1:186178685 [GRCh38]
Chr1:186147817 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13230+7C>T single nucleotide variant not provided [RCV002899373] Chr1:186130704 [GRCh38]
Chr1:186099836 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7407C>G (p.Ile2469Met) single nucleotide variant not provided [RCV002645842] Chr1:186061945 [GRCh38]
Chr1:186031077 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14095+3A>G single nucleotide variant not provided [RCV002877615] Chr1:186144346 [GRCh38]
Chr1:186113478 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.774T>A (p.Ile258=) single nucleotide variant not provided [RCV002833025] Chr1:185909489 [GRCh38]
Chr1:185878621 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3066A>T (p.Ser1022=) single nucleotide variant not provided [RCV002598795] Chr1:185989505 [GRCh38]
Chr1:185958637 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6611C>T (p.Thr2204Ile) single nucleotide variant not provided [RCV002962176] Chr1:186052985 [GRCh38]
Chr1:186022117 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8342G>A (p.Gly2781Asp) single nucleotide variant not provided [RCV002962189] Chr1:186076479 [GRCh38]
Chr1:186045611 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15277C>T (p.Pro5093Ser) single nucleotide variant not provided [RCV002597889] Chr1:186165131 [GRCh38]
Chr1:186134263 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1588A>G (p.Thr530Ala) single nucleotide variant not provided [RCV002597876] Chr1:185933584 [GRCh38]
Chr1:185902716 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4344G>A (p.Val1448=) single nucleotide variant not provided [RCV002647254] Chr1:186001737 [GRCh38]
Chr1:185970869 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1945G>A (p.Asp649Asn) single nucleotide variant not provided [RCV003087542] Chr1:185962634 [GRCh38]
Chr1:185931766 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13817A>G (p.Asn4606Ser) single nucleotide variant not specified [RCV004170692] Chr1:186137865 [GRCh38]
Chr1:186106997 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11957-16_11957-13dup duplication not provided [RCV003028387] Chr1:186119725..186119726 [GRCh38]
Chr1:186088857..186088858 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10358C>T (p.Thr3453Ile) single nucleotide variant not provided [RCV003046382] Chr1:186095306 [GRCh38]
Chr1:186064438 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7144+5G>A single nucleotide variant not provided [RCV003009039] Chr1:186055679 [GRCh38]
Chr1:186024811 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8429C>T (p.Thr2810Ile) single nucleotide variant not provided [RCV002833461] Chr1:186076566 [GRCh38]
Chr1:186045698 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10868C>G (p.Ala3623Gly) single nucleotide variant not provided [RCV003062532] Chr1:186108476 [GRCh38]
Chr1:186077608 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14759G>A (p.Gly4920Asp) single nucleotide variant not provided [RCV002597673] Chr1:186151606 [GRCh38]
Chr1:186120738 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8227T>C (p.Tyr2743His) single nucleotide variant not provided [RCV002833477] Chr1:186074828 [GRCh38]
Chr1:186043960 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3889A>C (p.Thr1297Pro) single nucleotide variant not specified [RCV004166996] Chr1:186000059 [GRCh38]
Chr1:185969191 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12617A>G (p.Asn4206Ser) single nucleotide variant not provided [RCV002598163] Chr1:186125721 [GRCh38]
Chr1:186094853 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6727G>A (p.Gly2243Arg) single nucleotide variant not provided [RCV002807238] Chr1:186053851 [GRCh38]
Chr1:186022983 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4632T>A (p.Ile1544=) single nucleotide variant not provided [RCV002649514] Chr1:186015160 [GRCh38]
Chr1:185984292 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16810C>T (p.Arg5604Cys) single nucleotide variant not provided [RCV003089821] Chr1:186189780 [GRCh38]
Chr1:186158912 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10866T>G (p.Ile3622Met) single nucleotide variant Age related macular degeneration 1 [RCV003456292]|not provided [RCV002600817]|not specified [RCV004065582] Chr1:186108474 [GRCh38]
Chr1:186077606 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4410C>T (p.Asp1470=) single nucleotide variant not provided [RCV002631711] Chr1:186003779 [GRCh38]
Chr1:185972911 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14184C>T (p.Ser4728=) single nucleotide variant not provided [RCV002581127] Chr1:186144621 [GRCh38]
Chr1:186113753 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16101C>T (p.Tyr5367=) single nucleotide variant not provided [RCV003046429] Chr1:186178573 [GRCh38]
Chr1:186147705 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8842A>G (p.Thr2948Ala) single nucleotide variant not provided [RCV002600525] Chr1:186082919 [GRCh38]
Chr1:186052051 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15449A>G (p.Glu5150Gly) single nucleotide variant not provided [RCV003029806] Chr1:186166817 [GRCh38]
Chr1:186135949 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14743G>A (p.Val4915Ile) single nucleotide variant not provided [RCV003030060]|not specified [RCV004068674] Chr1:186151334 [GRCh38]
Chr1:186120466 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4927G>C (p.Gly1643Arg) single nucleotide variant not provided [RCV002720239] Chr1:186015975 [GRCh38]
Chr1:185985107 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13769C>T (p.Ser4590Leu) single nucleotide variant not provided [RCV002895300] Chr1:186137817 [GRCh38]
Chr1:186106949 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.339+19T>A single nucleotide variant not provided [RCV002646156] Chr1:185846115 [GRCh38]
Chr1:185815247 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14563G>A (p.Gly4855Arg) single nucleotide variant not provided [RCV002597966] Chr1:186145878 [GRCh38]
Chr1:186115010 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15274T>C (p.Cys5092Arg) single nucleotide variant not provided [RCV002715078] Chr1:186165128 [GRCh38]
Chr1:186134260 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5300+17G>A single nucleotide variant not provided [RCV002600095] Chr1:186017088 [GRCh38]
Chr1:185986220 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11131+18T>C single nucleotide variant not provided [RCV002600113] Chr1:186112971 [GRCh38]
Chr1:186082103 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2120T>A (p.Val707Asp) single nucleotide variant not specified [RCV004152673] Chr1:185965823 [GRCh38]
Chr1:185934955 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5716G>C (p.Glu1906Gln) single nucleotide variant not provided [RCV003028230] Chr1:186023120 [GRCh38]
Chr1:185992252 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12839G>C (p.Ser4280Thr) single nucleotide variant not provided [RCV003031042] Chr1:186128226 [GRCh38]
Chr1:186097358 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14625C>T (p.Ala4875=) single nucleotide variant not provided [RCV003048515] Chr1:186151216 [GRCh38]
Chr1:186120348 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13828A>G (p.Thr4610Ala) single nucleotide variant not provided [RCV002632184] Chr1:186137876 [GRCh38]
Chr1:186107008 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16834T>G (p.Tyr5612Asp) single nucleotide variant not provided [RCV002645960] Chr1:186189804 [GRCh38]
Chr1:186158936 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9807T>A (p.Asn3269Lys) single nucleotide variant not provided [RCV003062530] Chr1:186090837 [GRCh38]
Chr1:186059969 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3919T>C (p.Leu1307=) single nucleotide variant not provided [RCV002792012] Chr1:186000089 [GRCh38]
Chr1:185969221 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14437+3G>A single nucleotide variant not provided [RCV002806562] Chr1:186145576 [GRCh38]
Chr1:186114708 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10394C>T (p.Pro3465Leu) single nucleotide variant not specified [RCV004122529] Chr1:186095342 [GRCh38]
Chr1:186064474 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6893A>G (p.His2298Arg) single nucleotide variant not provided [RCV002807332] Chr1:186055423 [GRCh38]
Chr1:186024555 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7242C>T (p.Pro2414=) single nucleotide variant not provided [RCV002671351] Chr1:186057331 [GRCh38]
Chr1:186026463 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7868G>A (p.Arg2623His) single nucleotide variant not provided [RCV002578782] Chr1:186067996 [GRCh38]
Chr1:186037128 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11199A>C (p.Glu3733Asp) single nucleotide variant not provided [RCV002627776] Chr1:186114046 [GRCh38]
Chr1:186083178 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4304A>G (p.Asn1435Ser) single nucleotide variant not provided [RCV002716653] Chr1:186001697 [GRCh38]
Chr1:185970829 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13424G>A (p.Arg4475His) single nucleotide variant not provided [RCV002600912] Chr1:186136779 [GRCh38]
Chr1:186105911 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.648A>G (p.Val216=) single nucleotide variant not provided [RCV002601404] Chr1:185909363 [GRCh38]
Chr1:185878495 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16494dup (p.Ile5499fs) duplication not provided [RCV002811855] Chr1:186187961..186187962 [GRCh38]
Chr1:186157093..186157094 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2354T>C (p.Ile785Thr) single nucleotide variant not specified [RCV004170918] Chr1:185970476 [GRCh38]
Chr1:185939608 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8599+6T>C single nucleotide variant not provided [RCV002988752] Chr1:186078226 [GRCh38]
Chr1:186047358 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6733G>A (p.Val2245Ile) single nucleotide variant Age related macular degeneration 1 [RCV003455558]|not provided [RCV002646708]|not specified [RCV004066760] Chr1:186053857 [GRCh38]
Chr1:186022989 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5642G>A (p.Arg1881Gln) single nucleotide variant not provided [RCV002715401] Chr1:186023046 [GRCh38]
Chr1:185992178 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11342A>G (p.Tyr3781Cys) single nucleotide variant not provided [RCV002716279] Chr1:186114884 [GRCh38]
Chr1:186084016 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2498C>T (p.Pro833Leu) single nucleotide variant not provided [RCV002834274] Chr1:185977913 [GRCh38]
Chr1:185947045 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2072A>G (p.Lys691Arg) single nucleotide variant not provided [RCV002601428] Chr1:185963869 [GRCh38]
Chr1:185933001 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5254C>T (p.Leu1752=) single nucleotide variant not provided [RCV002601930] Chr1:186017025 [GRCh38]
Chr1:185986157 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4557C>T (p.Asp1519=) single nucleotide variant not provided [RCV003027718] Chr1:186007209 [GRCh38]
Chr1:185976341 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13435T>G (p.Ser4479Ala) single nucleotide variant not provided [RCV002672246] Chr1:186136790 [GRCh38]
Chr1:186105922 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3049-11G>A single nucleotide variant not provided [RCV002631085] Chr1:185989477 [GRCh38]
Chr1:185958609 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12123C>T (p.Gly4041=) single nucleotide variant not provided [RCV002811648] Chr1:186120039 [GRCh38]
Chr1:186089171 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5504A>G (p.Glu1835Gly) single nucleotide variant not provided [RCV002577609] Chr1:186019574 [GRCh38]
Chr1:185988706 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7617T>C (p.Asn2539=) single nucleotide variant not provided [RCV002577875] Chr1:186065341 [GRCh38]
Chr1:186034473 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12242T>C (p.Ile4081Thr) single nucleotide variant not provided [RCV003086770] Chr1:186122963 [GRCh38]
Chr1:186092095 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7427-6T>G single nucleotide variant not provided [RCV002599474] Chr1:186062508 [GRCh38]
Chr1:186031640 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1535C>T (p.Thr512Ile) single nucleotide variant not provided [RCV002938322] Chr1:185928650 [GRCh38]
Chr1:185897782 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12730G>A (p.Ala4244Thr) single nucleotide variant not provided [RCV002600752]|not specified [RCV004065577] Chr1:186128117 [GRCh38]
Chr1:186097249 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16876G>C (p.Val5626Leu) single nucleotide variant not provided [RCV002631117] Chr1:186189846 [GRCh38]
Chr1:186158978 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.601G>A (p.Asp201Asn) single nucleotide variant not provided [RCV003030776] Chr1:185865843 [GRCh38]
Chr1:185834975 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5301-3T>C single nucleotide variant not provided [RCV003087291] Chr1:186018180 [GRCh38]
Chr1:185987312 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2616G>A (p.Gln872=) single nucleotide variant not provided [RCV002600759] Chr1:185981027 [GRCh38]
Chr1:185950159 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9571C>T (p.Arg3191Cys) single nucleotide variant Age related macular degeneration 1 [RCV004796741]|not provided [RCV002631925] Chr1:186088270 [GRCh38]
Chr1:186057402 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.782G>T (p.Arg261Leu) single nucleotide variant not provided [RCV002770576] Chr1:185909497 [GRCh38]
Chr1:185878629 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14609-19T>G single nucleotide variant not provided [RCV002580451] Chr1:186151181 [GRCh38]
Chr1:186120313 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3171C>T (p.Ala1057=) single nucleotide variant not provided [RCV002770329] Chr1:185989610 [GRCh38]
Chr1:185958742 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1607G>C (p.Arg536Thr) single nucleotide variant not provided [RCV002715259] Chr1:185933603 [GRCh38]
Chr1:185902735 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12953T>G (p.Val4318Gly) single nucleotide variant not provided [RCV002963387] Chr1:186130014 [GRCh38]
Chr1:186099146 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.708G>C (p.Trp236Cys) single nucleotide variant not provided [RCV003063962] Chr1:185909423 [GRCh38]
Chr1:185878555 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4188A>T (p.Lys1396Asn) single nucleotide variant not provided [RCV002601818] Chr1:186001416 [GRCh38]
Chr1:185970548 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1286-6dup duplication not provided [RCV002576749] Chr1:185925033..185925034 [GRCh38]
Chr1:185894165..185894166 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.10842G>A (p.Val3614=) single nucleotide variant not provided [RCV003010451] Chr1:186106955 [GRCh38]
Chr1:186076087 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3961A>G (p.Thr1321Ala) single nucleotide variant not provided [RCV002810953] Chr1:186000131 [GRCh38]
Chr1:185969263 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14609-16T>C single nucleotide variant not provided [RCV002601281] Chr1:186151184 [GRCh38]
Chr1:186120316 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13087C>G (p.Leu4363Val) single nucleotide variant not provided [RCV003046397] Chr1:186130554 [GRCh38]
Chr1:186099686 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15514C>T (p.Arg5172Cys) single nucleotide variant not provided [RCV003089461] Chr1:186166882 [GRCh38]
Chr1:186136014 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3049-15C>T single nucleotide variant not provided [RCV002631040] Chr1:185989473 [GRCh38]
Chr1:185958605 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9446-11G>A single nucleotide variant not provided [RCV002631788] Chr1:186088134 [GRCh38]
Chr1:186057266 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9043C>T (p.Pro3015Ser) single nucleotide variant not provided [RCV002598917] Chr1:186086404 [GRCh38]
Chr1:186055536 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10069G>A (p.Asp3357Asn) single nucleotide variant not specified [RCV004137554] Chr1:186093542 [GRCh38]
Chr1:186062674 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5464G>C (p.Val1822Leu) single nucleotide variant not provided [RCV002966645] Chr1:186018346 [GRCh38]
Chr1:185987478 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3520C>A (p.Gln1174Lys) single nucleotide variant not provided [RCV003031656] Chr1:185994829 [GRCh38]
Chr1:185963961 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.453G>A (p.Arg151=) single nucleotide variant not provided [RCV002933612] Chr1:185864583 [GRCh38]
Chr1:185833715 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6180+12C>G single nucleotide variant not provided [RCV003027299] Chr1:186039891 [GRCh38]
Chr1:186009023 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7780T>C (p.Ser2594Pro) single nucleotide variant not provided [RCV003062044] Chr1:186067908 [GRCh38]
Chr1:186037040 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6553A>G (p.Lys2185Glu) single nucleotide variant not provided [RCV002649575] Chr1:186048815 [GRCh38]
Chr1:186017947 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4715G>A (p.Arg1572Gln) single nucleotide variant Age related macular degeneration 1 [RCV003456300]|not provided [RCV002938503]|not specified [RCV004067102] Chr1:186015243 [GRCh38]
Chr1:185984375 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9455G>C (p.Ser3152Thr) single nucleotide variant not provided [RCV003777637]|not specified [RCV004090514] Chr1:186088154 [GRCh38]
Chr1:186057286 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5471-20del deletion not provided [RCV002675928] Chr1:186019521 [GRCh38]
Chr1:185988653 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11274A>G (p.Ala3758=) single nucleotide variant not provided [RCV002806116] Chr1:186114121 [GRCh38]
Chr1:186083253 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12554A>C (p.Gln4185Pro) single nucleotide variant not provided [RCV003063884] Chr1:186125658 [GRCh38]
Chr1:186094790 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7775C>T (p.Pro2592Leu) single nucleotide variant not provided [RCV002746116] Chr1:186067903 [GRCh38]
Chr1:186037035 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11306A>G (p.His3769Arg) single nucleotide variant not provided [RCV002895396] Chr1:186114848 [GRCh38]
Chr1:186083980 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8848G>C (p.Gly2950Arg) single nucleotide variant not provided [RCV003027603] Chr1:186082925 [GRCh38]
Chr1:186052057 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9572G>T (p.Arg3191Leu) single nucleotide variant not provided [RCV003028231] Chr1:186088271 [GRCh38]
Chr1:186057403 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6240G>A (p.Arg2080=) single nucleotide variant not provided [RCV003046498] Chr1:186041072 [GRCh38]
Chr1:186010204 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6679A>G (p.Asn2227Asp) single nucleotide variant not provided [RCV002600983] Chr1:186053053 [GRCh38]
Chr1:186022185 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4919T>C (p.Met1640Thr) single nucleotide variant not provided [RCV003027925] Chr1:186015967 [GRCh38]
Chr1:185985099 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13047A>C (p.Pro4349=) single nucleotide variant not provided [RCV002716609] Chr1:186130514 [GRCh38]
Chr1:186099646 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12590C>T (p.Thr4197Ile) single nucleotide variant not provided [RCV002963131] Chr1:186125694 [GRCh38]
Chr1:186094826 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12258G>A (p.Lys4086=) single nucleotide variant not provided [RCV002900162] Chr1:186122979 [GRCh38]
Chr1:186092111 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.10294+12A>G single nucleotide variant not provided [RCV002601396] Chr1:186094385 [GRCh38]
Chr1:186063517 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.498+17C>T single nucleotide variant not provided [RCV002806220] Chr1:185864645 [GRCh38]
Chr1:185833777 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13021G>A (p.Gly4341Arg) single nucleotide variant not provided [RCV003044500] Chr1:186130082 [GRCh38]
Chr1:186099214 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6177A>G (p.Leu2059=) single nucleotide variant not provided [RCV002646145] Chr1:186039876 [GRCh38]
Chr1:186009008 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16314T>C (p.Asn5438=) single nucleotide variant not provided [RCV002806775] Chr1:186182187 [GRCh38]
Chr1:186151319 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7439T>C (p.Ile2480Thr) single nucleotide variant not provided [RCV002670754] Chr1:186062526 [GRCh38]
Chr1:186031658 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7492A>C (p.Thr2498Pro) single nucleotide variant not specified [RCV004168954] Chr1:186062579 [GRCh38]
Chr1:186031711 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15745C>T (p.Arg5249Cys) single nucleotide variant not provided [RCV002600669] Chr1:186172062 [GRCh38]
Chr1:186141194 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11944C>T (p.Leu3982Phe) single nucleotide variant not provided [RCV002632670] Chr1:186119286 [GRCh38]
Chr1:186088418 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7145-20T>G single nucleotide variant not provided [RCV002806243] Chr1:186057214 [GRCh38]
Chr1:186026346 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8140C>A (p.Pro2714Thr) single nucleotide variant not provided [RCV002672216] Chr1:186074741 [GRCh38]
Chr1:186043873 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13268A>G (p.Asn4423Ser) single nucleotide variant not provided [RCV002632021] Chr1:186132365 [GRCh38]
Chr1:186101497 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3198A>G (p.Leu1066=) single nucleotide variant not provided [RCV002632481] Chr1:185989637 [GRCh38]
Chr1:185958769 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13407A>G (p.Pro4469=) single nucleotide variant not provided [RCV003031567] Chr1:186136762 [GRCh38]
Chr1:186105894 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3206A>T (p.Tyr1069Phe) single nucleotide variant not provided [RCV003044104] Chr1:185989645 [GRCh38]
Chr1:185958777 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16654A>G (p.Ile5552Val) single nucleotide variant not provided [RCV003045160] Chr1:186189624 [GRCh38]
Chr1:186158756 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7144+20A>G single nucleotide variant not provided [RCV002577852] Chr1:186055694 [GRCh38]
Chr1:186024826 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15238C>T (p.His5080Tyr) single nucleotide variant not provided [RCV003045793] Chr1:186153969 [GRCh38]
Chr1:186123101 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7304T>A (p.Ile2435Asn) single nucleotide variant not provided [RCV002579305]|not specified [RCV004073439] Chr1:186057393 [GRCh38]
Chr1:186026525 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.11948A>G (p.His3983Arg) single nucleotide variant not provided [RCV002581771] Chr1:186119290 [GRCh38]
Chr1:186088422 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10853-7C>T single nucleotide variant not provided [RCV002597754] Chr1:186108454 [GRCh38]
Chr1:186077586 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.794-17del deletion not provided [RCV003026669] Chr1:185911655 [GRCh38]
Chr1:185880787 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2955T>C (p.His985=) single nucleotide variant not provided [RCV002650536] Chr1:185987451 [GRCh38]
Chr1:185956583 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9672T>C (p.Cys3224=) single nucleotide variant not provided [RCV002601498] Chr1:186088700 [GRCh38]
Chr1:186057832 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1944C>T (p.Asn648=) single nucleotide variant not provided [RCV002651026] Chr1:185962633 [GRCh38]
Chr1:185931765 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12485A>G (p.Lys4162Arg) single nucleotide variant not specified [RCV004173139] Chr1:186123206 [GRCh38]
Chr1:186092338 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14066T>C (p.Met4689Thr) single nucleotide variant not provided [RCV002649802] Chr1:186144314 [GRCh38]
Chr1:186113446 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5363G>A (p.Arg1788His) single nucleotide variant not specified [RCV004153458] Chr1:186018245 [GRCh38]
Chr1:185987377 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5655T>C (p.Ile1885=) single nucleotide variant not provided [RCV002602363] Chr1:186023059 [GRCh38]
Chr1:185992191 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.11267A>G (p.Asn3756Ser) single nucleotide variant not provided [RCV003031756] Chr1:186114114 [GRCh38]
Chr1:186083246 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11741C>T (p.Ala3914Val) single nucleotide variant not specified [RCV004082151] Chr1:186117516 [GRCh38]
Chr1:186086648 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9364-15A>G single nucleotide variant not provided [RCV002600794] Chr1:186087917 [GRCh38]
Chr1:186057049 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11793C>G (p.Thr3931=) single nucleotide variant not provided [RCV002650195] Chr1:186117568 [GRCh38]
Chr1:186086700 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5755C>T (p.Pro1919Ser) single nucleotide variant not provided [RCV002576931] Chr1:186037939 [GRCh38]
Chr1:186007071 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9503C>T (p.Pro3168Leu) single nucleotide variant not provided [RCV003045890] Chr1:186088202 [GRCh38]
Chr1:186057334 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16062C>T (p.Cys5354=) single nucleotide variant not provided [RCV002599963] Chr1:186178534 [GRCh38]
Chr1:186147666 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9263C>G (p.Pro3088Arg) single nucleotide variant not provided [RCV002716825] Chr1:186087545 [GRCh38]
Chr1:186056677 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12957A>C (p.Ser4319=) single nucleotide variant not provided [RCV002716826] Chr1:186130018 [GRCh38]
Chr1:186099150 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16195T>G (p.Ser5399Ala) single nucleotide variant not provided [RCV002716827] Chr1:186178667 [GRCh38]
Chr1:186147799 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6384T>C (p.Asp2128=) single nucleotide variant not provided [RCV003065108] Chr1:186045767 [GRCh38]
Chr1:186014899 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6304+13A>G single nucleotide variant not provided [RCV003026287] Chr1:186041149 [GRCh38]
Chr1:186010281 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.636A>G (p.Val212=) single nucleotide variant not provided [RCV002647014] Chr1:185909351 [GRCh38]
Chr1:185878483 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15699G>C (p.Glu5233Asp) single nucleotide variant not provided [RCV003044957] Chr1:186172016 [GRCh38]
Chr1:186141148 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12669A>C (p.Glu4223Asp) single nucleotide variant not provided [RCV003027790] Chr1:186125773 [GRCh38]
Chr1:186094905 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11264G>A (p.Gly3755Glu) single nucleotide variant not provided [RCV003046354] Chr1:186114111 [GRCh38]
Chr1:186083243 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.254C>G (p.Pro85Arg) single nucleotide variant not provided [RCV002650627] Chr1:185735033 [GRCh38]
Chr1:185704165 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.10791T>C (p.Tyr3597=) single nucleotide variant not provided [RCV002746449] Chr1:186106904 [GRCh38]
Chr1:186076036 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7141C>T (p.His2381Tyr) single nucleotide variant not provided [RCV002577428] Chr1:186055671 [GRCh38]
Chr1:186024803 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6639C>T (p.Leu2213=) single nucleotide variant not provided [RCV003063782] Chr1:186053013 [GRCh38]
Chr1:186022145 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15944-4G>A single nucleotide variant not provided [RCV002720472] Chr1:186178412 [GRCh38]
Chr1:186147544 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1607G>A (p.Arg536Lys) single nucleotide variant not provided [RCV003086659] Chr1:185933603 [GRCh38]
Chr1:185902735 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3048+7G>A single nucleotide variant not provided [RCV002961867] Chr1:185987551 [GRCh38]
Chr1:185956683 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14096-4C>G single nucleotide variant not provided [RCV002671560] Chr1:186144529 [GRCh38]
Chr1:186113661 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15913C>T (p.Arg5305Trp) single nucleotide variant not provided [RCV002633729] Chr1:186174612 [GRCh38]
Chr1:186143744 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8662A>G (p.Lys2888Glu) single nucleotide variant not provided [RCV002603576] Chr1:186081269 [GRCh38]
Chr1:186050401 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2764C>T (p.Arg922Cys) single nucleotide variant not provided [RCV002633890] Chr1:185982363 [GRCh38]
Chr1:185951495 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9446-5dup duplication not provided [RCV002604842] Chr1:186088134..186088135 [GRCh38]
Chr1:186057266..186057267 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.4733C>A (p.Ala1578Asp) single nucleotide variant not provided [RCV002943046] Chr1:186015261 [GRCh38]
Chr1:185984393 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15998C>A (p.Thr5333Asn) single nucleotide variant not provided [RCV003068342] Chr1:186178470 [GRCh38]
Chr1:186147602 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6730C>T (p.Arg2244Ter) single nucleotide variant not provided [RCV002605046] Chr1:186053854 [GRCh38]
Chr1:186022986 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14016C>G (p.Asn4672Lys) single nucleotide variant not provided [RCV002605158] Chr1:186144264 [GRCh38]
Chr1:186113396 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5236G>T (p.Val1746Leu) single nucleotide variant not provided [RCV002721609] Chr1:186017007 [GRCh38]
Chr1:185986139 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.271A>G (p.Ile91Val) single nucleotide variant not provided [RCV002584088] Chr1:185846028 [GRCh38]
Chr1:185815160 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13941C>T (p.Ser4647=) single nucleotide variant not provided [RCV003068318] Chr1:186144189 [GRCh38]
Chr1:186113321 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7903A>G (p.Asn2635Asp) single nucleotide variant not provided [RCV002634719] Chr1:186069686 [GRCh38]
Chr1:186038818 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4667A>G (p.Asp1556Gly) single nucleotide variant not provided [RCV002605377] Chr1:186015195 [GRCh38]
Chr1:185984327 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15390C>T (p.Cys5130=) single nucleotide variant not provided [RCV002606077] Chr1:186166254 [GRCh38]
Chr1:186135386 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2212+4C>T single nucleotide variant not provided [RCV003069832] Chr1:185965919 [GRCh38]
Chr1:185935051 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16639A>T (p.Thr5547Ser) single nucleotide variant not provided [RCV002721517] Chr1:186189609 [GRCh38]
Chr1:186158741 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8119A>G (p.Ser2707Gly) single nucleotide variant not provided [RCV002604314] Chr1:186070737 [GRCh38]
Chr1:186039869 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14397A>C (p.Pro4799=) single nucleotide variant not provided [RCV002654037] Chr1:186145533 [GRCh38]
Chr1:186114665 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7585A>T (p.Ile2529Leu) single nucleotide variant not provided [RCV002725394]|not specified [RCV004632053] Chr1:186065309 [GRCh38]
Chr1:186034441 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4358C>A (p.Thr1453Asn) single nucleotide variant not provided [RCV002603538]|not specified [RCV004634186] Chr1:186003727 [GRCh38]
Chr1:185972859 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12745A>T (p.Thr4249Ser) single nucleotide variant not provided [RCV002658266] Chr1:186128132 [GRCh38]
Chr1:186097264 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3722G>T (p.Cys1241Phe) single nucleotide variant not provided [RCV002814293] Chr1:185995031 [GRCh38]
Chr1:185964163 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14026G>T (p.Ala4676Ser) single nucleotide variant not provided [RCV002814307] Chr1:186144274 [GRCh38]
Chr1:186113406 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9412C>T (p.Arg3138Trp) single nucleotide variant not provided [RCV002604356] Chr1:186087980 [GRCh38]
Chr1:186057112 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8635C>T (p.Pro2879Ser) single nucleotide variant not provided [RCV003052370] Chr1:186081242 [GRCh38]
Chr1:186050374 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16474A>T (p.Met5492Leu) single nucleotide variant not provided [RCV002658454] Chr1:186187942 [GRCh38]
Chr1:186157074 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10442A>G (p.His3481Arg) single nucleotide variant not provided [RCV002603870] Chr1:186095390 [GRCh38]
Chr1:186064522 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2441G>C (p.Cys814Ser) single nucleotide variant not provided [RCV002585007] Chr1:185977856 [GRCh38]
Chr1:185946988 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1828+3A>G single nucleotide variant not provided [RCV002582976] Chr1:185933827 [GRCh38]
Chr1:185902959 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1822G>C (p.Val608Leu) single nucleotide variant not provided [RCV002814426] Chr1:185933818 [GRCh38]
Chr1:185902950 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16243A>G (p.Ile5415Val) single nucleotide variant not provided [RCV002657799] Chr1:186178715 [GRCh38]
Chr1:186147847 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15885C>T (p.Ser5295=) single nucleotide variant not provided [RCV002653114] Chr1:186174584 [GRCh38]
Chr1:186143716 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3222G>T (p.Val1074=) single nucleotide variant not provided [RCV002943738] Chr1:185990288 [GRCh38]
Chr1:185959420 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12603C>T (p.Asn4201=) single nucleotide variant not provided [RCV002583756] Chr1:186125707 [GRCh38]
Chr1:186094839 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1431-18C>T single nucleotide variant not provided [RCV002725616] Chr1:185928528 [GRCh38]
Chr1:185897660 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2425A>G (p.Asn809Asp) single nucleotide variant not provided [RCV002725697] Chr1:185977840 [GRCh38]
Chr1:185946972 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9970C>T (p.Pro3324Ser) single nucleotide variant not provided [RCV003069637] Chr1:186093216 [GRCh38]
Chr1:186062348 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.850G>A (p.Ala284Thr) single nucleotide variant not provided [RCV002604645] Chr1:185911730 [GRCh38]
Chr1:185880862 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1106G>C (p.Gly369Ala) single nucleotide variant not provided [RCV002604673] Chr1:185923474 [GRCh38]
Chr1:185892606 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9095A>C (p.Glu3032Ala) single nucleotide variant not provided [RCV002944214] Chr1:186087265 [GRCh38]
Chr1:186056397 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5092G>A (p.Glu1698Lys) single nucleotide variant not provided [RCV002584214] Chr1:186016140 [GRCh38]
Chr1:185985272 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8112C>G (p.Ala2704=) single nucleotide variant not provided [RCV003051720] Chr1:186070730 [GRCh38]
Chr1:186039862 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16759C>G (p.Leu5587Val) single nucleotide variant not provided [RCV003066685]|not specified [RCV004070203] Chr1:186189729 [GRCh38]
Chr1:186158861 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.10085T>C (p.Ile3362Thr) single nucleotide variant not provided [RCV002603024] Chr1:186093558 [GRCh38]
Chr1:186062690 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14944G>A (p.Gly4982Ser) single nucleotide variant not provided [RCV002721420] Chr1:186152797 [GRCh38]
Chr1:186121929 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8098G>A (p.Ala2700Thr) single nucleotide variant not provided [RCV002633336] Chr1:186070716 [GRCh38]
Chr1:186039848 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6181-18C>T single nucleotide variant not provided [RCV002634502] Chr1:186040995 [GRCh38]
Chr1:186010127 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8139+4A>G single nucleotide variant not provided [RCV002657945] Chr1:186070761 [GRCh38]
Chr1:186039893 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15904A>G (p.Arg5302Gly) single nucleotide variant not provided [RCV002676854] Chr1:186174603 [GRCh38]
Chr1:186143735 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2212+12C>G single nucleotide variant not provided [RCV002680936] Chr1:185965927 [GRCh38]
Chr1:185935059 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13040-12del deletion not provided [RCV002725246] Chr1:186130495 [GRCh38]
Chr1:186099627 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12388T>C (p.Ser4130Pro) single nucleotide variant not provided [RCV002609162] Chr1:186123109 [GRCh38]
Chr1:186092241 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8813T>A (p.Ile2938Asn) single nucleotide variant not provided [RCV002721490] Chr1:186082890 [GRCh38]
Chr1:186052022 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5294C>T (p.Thr1765Ile) single nucleotide variant not provided [RCV003049671] Chr1:186017065 [GRCh38]
Chr1:185986197 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16708C>T (p.Leu5570Phe) single nucleotide variant not provided [RCV002583472] Chr1:186189678 [GRCh38]
Chr1:186158810 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7429C>T (p.Pro2477Ser) single nucleotide variant not provided [RCV003052264] Chr1:186062516 [GRCh38]
Chr1:186031648 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13747T>C (p.Cys4583Arg) single nucleotide variant not provided [RCV002609300] Chr1:186137662 [GRCh38]
Chr1:186106794 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9321G>T (p.Glu3107Asp) single nucleotide variant not provided [RCV002943531] Chr1:186087603 [GRCh38]
Chr1:186056735 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2845del (p.Arg949fs) deletion not provided [RCV003051626] Chr1:185984221 [GRCh38]
Chr1:185953353 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4574G>A (p.Cys1525Tyr) single nucleotide variant not provided [RCV002609409] Chr1:186007226 [GRCh38]
Chr1:185976358 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10383A>C (p.Gly3461=) single nucleotide variant not provided [RCV002942368] Chr1:186095331 [GRCh38]
Chr1:186064463 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14318G>A (p.Cys4773Tyr) single nucleotide variant not provided [RCV002652953] Chr1:186145454 [GRCh38]
Chr1:186114586 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6578-13dup duplication not provided [RCV002608386] Chr1:186052934..186052935 [GRCh38]
Chr1:186022066..186022067 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.5192-18A>G single nucleotide variant not provided [RCV002609590] Chr1:186016945 [GRCh38]
Chr1:185986077 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7301G>C (p.Arg2434Thr) single nucleotide variant not provided [RCV002636032] Chr1:186057390 [GRCh38]
Chr1:186026522 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9089G>A (p.Gly3030Asp) single nucleotide variant not provided [RCV002726063] Chr1:186087259 [GRCh38]
Chr1:186056391 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4909+14T>C single nucleotide variant not provided [RCV002585913] Chr1:186015451 [GRCh38]
Chr1:185984583 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2567-14G>A single nucleotide variant not provided [RCV002589207] Chr1:185980964 [GRCh38]
Chr1:185950096 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4753G>A (p.Gly1585Arg) single nucleotide variant not provided [RCV002607546] Chr1:186015281 [GRCh38]
Chr1:185984413 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10150C>A (p.Pro3384Thr) single nucleotide variant not provided [RCV002609731] Chr1:186093623 [GRCh38]
Chr1:186062755 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10874C>G (p.Thr3625Ser) single nucleotide variant not provided [RCV002609830]|not specified [RCV004065883] Chr1:186108482 [GRCh38]
Chr1:186077614 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3378-20A>G single nucleotide variant not provided [RCV002582576] Chr1:185993162 [GRCh38]
Chr1:185962294 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16430_16431del (p.Leu5477fs) deletion not provided [RCV002942501] Chr1:186187898..186187899 [GRCh38]
Chr1:186157030..186157031 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14509C>T (p.Arg4837Trp) single nucleotide variant not provided [RCV002634761] Chr1:186145824 [GRCh38]
Chr1:186114956 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9576A>C (p.Ile3192=) single nucleotide variant not provided [RCV003051815] Chr1:186088275 [GRCh38]
Chr1:186057407 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5437G>A (p.Asp1813Asn) single nucleotide variant not provided [RCV002584368] Chr1:186018319 [GRCh38]
Chr1:185987451 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12246C>T (p.Ser4082=) single nucleotide variant not provided [RCV002605768] Chr1:186122967 [GRCh38]
Chr1:186092099 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3234A>G (p.Gln1078=) single nucleotide variant not provided [RCV002605769] Chr1:185990300 [GRCh38]
Chr1:185959432 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12402A>G (p.Gln4134=) single nucleotide variant not provided [RCV002586915] Chr1:186123123 [GRCh38]
Chr1:186092255 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13813G>A (p.Gly4605Ser) single nucleotide variant not provided [RCV002608563]|not specified [RCV004065751] Chr1:186137861 [GRCh38]
Chr1:186106993 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7493C>T (p.Thr2498Met) single nucleotide variant not provided [RCV002607683] Chr1:186062580 [GRCh38]
Chr1:186031712 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4481T>C (p.Leu1494Ser) single nucleotide variant not provided [RCV002608602] Chr1:186007133 [GRCh38]
Chr1:185976265 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10376C>G (p.Thr3459Ser) single nucleotide variant not provided [RCV002606803] Chr1:186095324 [GRCh38]
Chr1:186064456 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16674A>G (p.Thr5558=) single nucleotide variant not provided [RCV002607707] Chr1:186189644 [GRCh38]
Chr1:186158776 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15574+7A>C single nucleotide variant not provided [RCV002588008] Chr1:186166949 [GRCh38]
Chr1:186136081 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5535C>G (p.Ala1845=) single nucleotide variant not provided [RCV002610164] Chr1:186019605 [GRCh38]
Chr1:185988737 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4558A>C (p.Lys1520Gln) single nucleotide variant not provided [RCV002589735] Chr1:186007210 [GRCh38]
Chr1:185976342 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3875-14A>G single nucleotide variant not provided [RCV002725698] Chr1:186000031 [GRCh38]
Chr1:185969163 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12527G>T (p.Gly4176Val) single nucleotide variant not provided [RCV002605916] Chr1:186125631 [GRCh38]
Chr1:186094763 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12260A>T (p.Glu4087Val) single nucleotide variant not provided [RCV002606850] Chr1:186122981 [GRCh38]
Chr1:186092113 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2838T>C (p.His946=) single nucleotide variant not provided [RCV002608733] Chr1:185984216 [GRCh38]
Chr1:185953348 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9577+9A>G single nucleotide variant not provided [RCV002721840] Chr1:186088285 [GRCh38]
Chr1:186057417 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14952G>C (p.Leu4984Phe) single nucleotide variant Age related macular degeneration 1 [RCV003456303]|not provided [RCV003070901]|not specified [RCV004070200] Chr1:186152805 [GRCh38]
Chr1:186121937 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11153G>A (p.Gly3718Asp) single nucleotide variant not provided [RCV003073218]|not specified [RCV004071998] Chr1:186114000 [GRCh38]
Chr1:186083132 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.6750G>A (p.Gly2250=) single nucleotide variant not provided [RCV002610464] Chr1:186053874 [GRCh38]
Chr1:186023006 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11220A>G (p.Pro3740=) single nucleotide variant not provided [RCV002633175] Chr1:186114067 [GRCh38]
Chr1:186083199 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5243T>C (p.Val1748Ala) single nucleotide variant not provided [RCV002943324] Chr1:186017014 [GRCh38]
Chr1:185986146 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6204A>G (p.Leu2068=) single nucleotide variant not provided [RCV002585353] Chr1:186041036 [GRCh38]
Chr1:186010168 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11882A>G (p.His3961Arg) single nucleotide variant not provided [RCV002633226] Chr1:186119224 [GRCh38]
Chr1:186088356 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6454A>G (p.Ile2152Val) single nucleotide variant not provided [RCV002653302] Chr1:186045837 [GRCh38]
Chr1:186014969 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6181-17G>C single nucleotide variant not provided [RCV002635739] Chr1:186040996 [GRCh38]
Chr1:186010128 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16525C>T (p.Arg5509Trp) single nucleotide variant not provided [RCV002608915] Chr1:186187993 [GRCh38]
Chr1:186157125 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.508G>A (p.Val170Ile) single nucleotide variant not provided [RCV002588243]|not specified [RCV004073412] Chr1:185865750 [GRCh38]
Chr1:185834882 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13453C>T (p.Arg4485Trp) single nucleotide variant not provided [RCV002610713] Chr1:186136808 [GRCh38]
Chr1:186105940 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14897-3del deletion not provided [RCV002610730] Chr1:186152745 [GRCh38]
Chr1:186121877 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1359T>G (p.Val453=) single nucleotide variant not provided [RCV002610745] Chr1:185925120 [GRCh38]
Chr1:185894252 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11174T>C (p.Leu3725Pro) single nucleotide variant not provided [RCV002587309] Chr1:186114021 [GRCh38]
Chr1:186083153 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3155C>A (p.Thr1052Asn) single nucleotide variant not provided [RCV003032071] Chr1:185989594 [GRCh38]
Chr1:185958726 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1503T>C (p.Ala501=) single nucleotide variant not provided [RCV002586485] Chr1:185928618 [GRCh38]
Chr1:185897750 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8290+20G>A single nucleotide variant not provided [RCV002583421] Chr1:186074911 [GRCh38]
Chr1:186044043 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12169A>C (p.Met4057Leu) single nucleotide variant not provided [RCV002680916] Chr1:186120085 [GRCh38]
Chr1:186089217 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11617A>G (p.Thr3873Ala) single nucleotide variant not provided [RCV002585578] Chr1:186117049 [GRCh38]
Chr1:186086181 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10770+19A>T single nucleotide variant not provided [RCV002608202] Chr1:186103687 [GRCh38]
Chr1:186072819 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8483C>G (p.Pro2828Arg) single nucleotide variant not provided [RCV002608225] Chr1:186076620 [GRCh38]
Chr1:186045752 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16157A>G (p.Gln5386Arg) single nucleotide variant not provided [RCV002609094] Chr1:186178629 [GRCh38]
Chr1:186147761 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11223T>C (p.Thr3741=) single nucleotide variant not provided [RCV002676949] Chr1:186114070 [GRCh38]
Chr1:186083202 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10294+10A>C single nucleotide variant not provided [RCV002609037] Chr1:186094383 [GRCh38]
Chr1:186063515 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4348+25dup duplication not provided [RCV002612938] Chr1:186001760..186001761 [GRCh38]
Chr1:185970892..185970893 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.6554A>G (p.Lys2185Arg) single nucleotide variant not provided [RCV002612981] Chr1:186048816 [GRCh38]
Chr1:186017948 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11684-21TTG[4] microsatellite not provided [RCV002582535] Chr1:186117438..186117440 [GRCh38]
Chr1:186086570..186086572 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11505C>G (p.Ile3835Met) single nucleotide variant not provided [RCV002654101]|not specified [RCV004066816] Chr1:186115358 [GRCh38]
Chr1:186084490 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13661G>A (p.Arg4554His) single nucleotide variant not provided [RCV003071401]|not specified [RCV004070364] Chr1:186137576 [GRCh38]
Chr1:186106708 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8008A>G (p.Asn2670Asp) single nucleotide variant not provided [RCV002613108] Chr1:186070626 [GRCh38]
Chr1:186039758 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1698G>A (p.Ala566=) single nucleotide variant not provided [RCV003066517] Chr1:185933694 [GRCh38]
Chr1:185902826 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14437+20G>C single nucleotide variant not provided [RCV002654194] Chr1:186145593 [GRCh38]
Chr1:186114725 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11277-7C>T single nucleotide variant not provided [RCV002604488] Chr1:186114812 [GRCh38]
Chr1:186083944 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13669A>G (p.Asn4557Asp) single nucleotide variant not provided [RCV002607466]|not specified [RCV004634194] Chr1:186137584 [GRCh38]
Chr1:186106716 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13885G>A (p.Ala4629Thr) single nucleotide variant not provided [RCV002609220] Chr1:186137933 [GRCh38]
Chr1:186107065 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8324G>A (p.Gly2775Glu) single nucleotide variant Age related macular degeneration 1 [RCV003455668]|not provided [RCV003049996]|not specified [RCV004070092] Chr1:186076461 [GRCh38]
Chr1:186045593 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.783C>T (p.Arg261=) single nucleotide variant not provided [RCV002605750] Chr1:185909498 [GRCh38]
Chr1:185878630 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3518T>C (p.Ile1173Thr) single nucleotide variant not provided [RCV002611219] Chr1:185994827 [GRCh38]
Chr1:185963959 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8907T>A (p.Pro2969=) single nucleotide variant not provided [RCV002613335] Chr1:186086268 [GRCh38]
Chr1:186055400 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6229G>A (p.Asp2077Asn) single nucleotide variant not provided [RCV002585279] Chr1:186041061 [GRCh38]
Chr1:186010193 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14502A>G (p.Glu4834=) single nucleotide variant not provided [RCV002635050] Chr1:186145817 [GRCh38]
Chr1:186114949 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2213-7G>A single nucleotide variant not provided [RCV002611518] Chr1:185970328 [GRCh38]
Chr1:185939460 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6975C>G (p.Thr2325=) single nucleotide variant not provided [RCV003852804] Chr1:186055505 [GRCh38]
Chr1:186024637 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3514A>G (p.Lys1172Glu) single nucleotide variant not provided [RCV003050186] Chr1:185994823 [GRCh38]
Chr1:185963955 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15256+15G>C single nucleotide variant not provided [RCV002722080] Chr1:186154002 [GRCh38]
Chr1:186123134 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7937G>A (p.Cys2646Tyr) single nucleotide variant not provided [RCV002635087] Chr1:186069720 [GRCh38]
Chr1:186038852 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9545C>T (p.Thr3182Met) single nucleotide variant not provided [RCV002606064] Chr1:186088244 [GRCh38]
Chr1:186057376 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12744T>C (p.Asp4248=) single nucleotide variant not provided [RCV002585397] Chr1:186128131 [GRCh38]
Chr1:186097263 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3271G>A (p.Val1091Ile) single nucleotide variant not provided [RCV002585481] Chr1:185990337 [GRCh38]
Chr1:185959469 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3482A>G (p.Gln1161Arg) single nucleotide variant not provided [RCV002611651] Chr1:185993286 [GRCh38]
Chr1:185962418 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.126_127delinsTT (p.Leu42_Ala43delinsPheSer) indel not provided [RCV002725293] Chr1:185734905..185734906 [GRCh38]
Chr1:185704037..185704038 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.340-3C>T single nucleotide variant not provided [RCV002604926] Chr1:185864467 [GRCh38]
Chr1:185833599 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.89T>A (p.Ile30Asn) single nucleotide variant not provided [RCV002658160] Chr1:185734868 [GRCh38]
Chr1:185704000 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.8905C>T (p.Pro2969Ser) single nucleotide variant not provided [RCV002942989] Chr1:186086266 [GRCh38]
Chr1:186055398 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4857_4858inv (p.Val1620Ile) inversion not provided [RCV003093126] Chr1:186015385..186015386 [GRCh38]
Chr1:185984517..185984518 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7562A>G (p.Gln2521Arg) single nucleotide variant not provided [RCV002609871] Chr1:186065286 [GRCh38]
Chr1:186034418 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7407C>T (p.Ile2469=) single nucleotide variant not provided [RCV002635451] Chr1:186061945 [GRCh38]
Chr1:186031077 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12680A>G (p.Glu4227Gly) single nucleotide variant not provided [RCV002609956] Chr1:186125784 [GRCh38]
Chr1:186094916 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15505G>A (p.Gly5169Arg) single nucleotide variant not provided [RCV002725555] Chr1:186166873 [GRCh38]
Chr1:186136005 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14328G>A (p.Gly4776=) single nucleotide variant not provided [RCV003070321] Chr1:186145464 [GRCh38]
Chr1:186114596 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.838A>G (p.Ile280Val) single nucleotide variant not provided [RCV002610194] Chr1:185911718 [GRCh38]
Chr1:185880850 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3458C>T (p.Thr1153Ile) single nucleotide variant not provided [RCV002610266] Chr1:185993262 [GRCh38]
Chr1:185962394 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13753+10C>T single nucleotide variant not provided [RCV003032019] Chr1:186137678 [GRCh38]
Chr1:186106810 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8093C>T (p.Ala2698Val) single nucleotide variant not provided [RCV003093456] Chr1:186070711 [GRCh38]
Chr1:186039843 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13486A>G (p.Ile4496Val) single nucleotide variant not provided [RCV002725789] Chr1:186136841 [GRCh38]
Chr1:186105973 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16114C>T (p.Leu5372Phe) single nucleotide variant not provided [RCV003068914] Chr1:186178586 [GRCh38]
Chr1:186147718 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3391C>T (p.Pro1131Ser) single nucleotide variant not provided [RCV002586057] Chr1:185993195 [GRCh38]
Chr1:185962327 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9475G>A (p.Glu3159Lys) single nucleotide variant not provided [RCV002586078] Chr1:186088174 [GRCh38]
Chr1:186057306 [GRCh37]
Chr1:1q31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_031935.3(HMCN1):c.16529A>T (p.Asp5510Val) single nucleotide variant not provided [RCV002589866]|not specified [RCV004065608] Chr1:186187997 [GRCh38]
Chr1:186157129 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4510C>G (p.Leu1504Val) single nucleotide variant not provided [RCV003092244] Chr1:186007162 [GRCh38]
Chr1:185976294 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8536T>C (p.Tyr2846His) single nucleotide variant not provided [RCV002676774] Chr1:186078157 [GRCh38]
Chr1:186047289 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4996G>T (p.Ala1666Ser) single nucleotide variant not provided [RCV003068940] Chr1:186016044 [GRCh38]
Chr1:185985176 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4714C>T (p.Arg1572Trp) single nucleotide variant not provided [RCV003073136] Chr1:186015242 [GRCh38]
Chr1:185984374 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3474T>A (p.Asn1158Lys) single nucleotide variant not provided [RCV002610527] Chr1:185993278 [GRCh38]
Chr1:185962410 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7946C>T (p.Thr2649Met) single nucleotide variant Age related macular degeneration 1 [RCV003455546]|not provided [RCV002634556]|not specified [RCV004065793] Chr1:186069729 [GRCh38]
Chr1:186038861 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12094+11C>A single nucleotide variant not provided [RCV002634574] Chr1:186119893 [GRCh38]
Chr1:186089025 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13313-14G>A single nucleotide variant not provided [RCV002605498] Chr1:186136654 [GRCh38]
Chr1:186105786 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12188C>T (p.Pro4063Leu) single nucleotide variant not provided [RCV003070986] Chr1:186120104 [GRCh38]
Chr1:186089236 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11695A>G (p.Ile3899Val) single nucleotide variant not provided [RCV003049686] Chr1:186117470 [GRCh38]
Chr1:186086602 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12248C>T (p.Pro4083Leu) single nucleotide variant not provided [RCV002590203] Chr1:186122969 [GRCh38]
Chr1:186092101 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9101C>T (p.Thr3034Ile) single nucleotide variant not provided [RCV002612657] Chr1:186087271 [GRCh38]
Chr1:186056403 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9553T>C (p.Trp3185Arg) single nucleotide variant not specified [RCV004313434] Chr1:186088252 [GRCh38]
Chr1:186057384 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4494T>G (p.Asp1498Glu) single nucleotide variant not specified [RCV004267509] Chr1:186007146 [GRCh38]
Chr1:185976278 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13093G>C (p.Gly4365Arg) single nucleotide variant not provided [RCV003779626]|not specified [RCV004260012] Chr1:186130560 [GRCh38]
Chr1:186099692 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14162G>C (p.Arg4721Thr) single nucleotide variant not provided [RCV003779653]|not specified [RCV004257218] Chr1:186144599 [GRCh38]
Chr1:186113731 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.15865T>C (p.Cys5289Arg) single nucleotide variant not specified [RCV004273058] Chr1:186174564 [GRCh38]
Chr1:186143696 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5003A>T (p.Asn1668Ile) single nucleotide variant not specified [RCV004274928] Chr1:186016051 [GRCh38]
Chr1:185985183 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15766G>A (p.Asp5256Asn) single nucleotide variant not specified [RCV004285408] Chr1:186172083 [GRCh38]
Chr1:186141215 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1865C>T (p.Ser622Phe) single nucleotide variant not specified [RCV004271512] Chr1:185962554 [GRCh38]
Chr1:185931686 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6560A>T (p.Tyr2187Phe) single nucleotide variant not specified [RCV004265215] Chr1:186048822 [GRCh38]
Chr1:186017954 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11603T>C (p.Val3868Ala) single nucleotide variant not specified [RCV004272212] Chr1:186117035 [GRCh38]
Chr1:186086167 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10742G>A (p.Gly3581Glu) single nucleotide variant not provided [RCV003730448]|not specified [RCV004256402] Chr1:186103640 [GRCh38]
Chr1:186072772 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4703A>C (p.Glu1568Ala) single nucleotide variant not provided [RCV003730449]|not specified [RCV004256507] Chr1:186015231 [GRCh38]
Chr1:185984363 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12887A>G (p.Asn4296Ser) single nucleotide variant not provided [RCV003779612]|not specified [RCV004248702] Chr1:186128274 [GRCh38]
Chr1:186097406 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9793G>C (p.Glu3265Gln) single nucleotide variant not specified [RCV004272702] Chr1:186090823 [GRCh38]
Chr1:186059955 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5807A>G (p.Asn1936Ser) single nucleotide variant not provided [RCV003779708]|not specified [RCV004278894] Chr1:186037991 [GRCh38]
Chr1:186007123 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9293G>A (p.Arg3098Gln) single nucleotide variant not specified [RCV004285007] Chr1:186087575 [GRCh38]
Chr1:186056707 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16513C>T (p.Pro5505Ser) single nucleotide variant not provided [RCV003779655]|not specified [RCV004259410] Chr1:186187981 [GRCh38]
Chr1:186157113 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16G>A (p.Val6Ile) single nucleotide variant not provided [RCV003666165] Chr1:185734795 [GRCh38]
Chr1:185703927 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.12926G>A (p.Gly4309Glu) single nucleotide variant not provided [RCV003779882]|not specified [RCV004290940] Chr1:186129987 [GRCh38]
Chr1:186099119 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1555C>T (p.Pro519Ser) single nucleotide variant not provided [RCV003777082]|not specified [RCV004328817] Chr1:185933551 [GRCh38]
Chr1:185902683 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8392T>G (p.Tyr2798Asp) single nucleotide variant not specified [RCV004347147] Chr1:186076529 [GRCh38]
Chr1:186045661 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7235G>A (p.Gly2412Glu) single nucleotide variant not specified [RCV004356493] Chr1:186057324 [GRCh38]
Chr1:186026456 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8240C>T (p.Ala2747Val) single nucleotide variant not specified [RCV004354128] Chr1:186074841 [GRCh38]
Chr1:186043973 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11851G>A (p.Ala3951Thr) single nucleotide variant not specified [RCV004347833] Chr1:186119193 [GRCh38]
Chr1:186088325 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10907A>G (p.Asn3636Ser) single nucleotide variant not provided [RCV003561321]|not specified [RCV004343700] Chr1:186108515 [GRCh38]
Chr1:186077647 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.5329G>A (p.Glu1777Lys) single nucleotide variant not provided [RCV003778082]|not specified [RCV004360251] Chr1:186018211 [GRCh38]
Chr1:185987343 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4268C>T (p.Pro1423Leu) single nucleotide variant not specified [RCV004337510] Chr1:186001661 [GRCh38]
Chr1:185970793 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5301-14G>C single nucleotide variant not provided [RCV003875658] Chr1:186018169 [GRCh38]
Chr1:185987301 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.462T>A (p.His154Gln) single nucleotide variant not provided [RCV003570109] Chr1:185864592 [GRCh38]
Chr1:185833724 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4630+8C>A single nucleotide variant not provided [RCV003569509] Chr1:186007290 [GRCh38]
Chr1:185976422 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6029-3C>T single nucleotide variant not provided [RCV003569627] Chr1:186039725 [GRCh38]
Chr1:186008857 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8901_8919del (p.Gly2968fs) deletion not provided [RCV003570114] Chr1:186086260..186086278 [GRCh38]
Chr1:186055392..186055410 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3743G>A (p.Gly1248Asp) single nucleotide variant not provided [RCV003570133] Chr1:185995052 [GRCh38]
Chr1:185964184 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10830G>C (p.Lys3610Asn) single nucleotide variant not provided [RCV003875298] Chr1:186106943 [GRCh38]
Chr1:186076075 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8290+1G>A single nucleotide variant not provided [RCV003712584] Chr1:186074892 [GRCh38]
Chr1:186044024 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13027G>T (p.Val4343Phe) single nucleotide variant not provided [RCV003543260] Chr1:186130088 [GRCh38]
Chr1:186099220 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15012T>G (p.Thr5004=) single nucleotide variant not provided [RCV003570073] Chr1:186152865 [GRCh38]
Chr1:186121997 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.58C>T (p.Leu20=) single nucleotide variant not provided [RCV003570128] Chr1:185734837 [GRCh38]
Chr1:185703969 [GRCh37]
Chr1:1q25.3		 likely benign
NM_031935.3(HMCN1):c.15001G>A (p.Ala5001Thr) single nucleotide variant not provided [RCV003570161] Chr1:186152854 [GRCh38]
Chr1:186121986 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10700G>A (p.Arg3567Gln) single nucleotide variant not provided [RCV003874100] Chr1:186103598 [GRCh38]
Chr1:186072730 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8492G>A (p.Arg2831Gln) single nucleotide variant not provided [RCV003712538] Chr1:186078113 [GRCh38]
Chr1:186047245 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11318C>T (p.Ala3773Val) single nucleotide variant not provided [RCV003570857] Chr1:186114860 [GRCh38]
Chr1:186083992 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10463G>T (p.Gly3488Val) single nucleotide variant not provided [RCV003571396] Chr1:186095411 [GRCh38]
Chr1:186064543 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12864G>C (p.Leu4288Phe) single nucleotide variant not provided [RCV003875227] Chr1:186128251 [GRCh38]
Chr1:186097383 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.50A>T (p.Tyr17Phe) single nucleotide variant not provided [RCV003543619] Chr1:185734829 [GRCh38]
Chr1:185703961 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.11006G>T (p.Arg3669Leu) single nucleotide variant not provided [RCV003686232] Chr1:186112828 [GRCh38]
Chr1:186081960 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3153C>T (p.Cys1051=) single nucleotide variant not provided [RCV003421287] Chr1:185989592 [GRCh38]
Chr1:185958724 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14570C>A (p.Thr4857Asn) single nucleotide variant not provided [RCV003825899] Chr1:186145885 [GRCh38]
Chr1:186115017 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5578T>C (p.Trp1860Arg) single nucleotide variant HMCN1-related disorder [RCV003391282] Chr1:186019648 [GRCh38]
Chr1:185988780 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9720A>T (p.Ser3240=) single nucleotide variant not provided [RCV003421289] Chr1:186088748 [GRCh38]
Chr1:186057880 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1852C>T (p.Pro618Ser) single nucleotide variant HMCN1-related disorder [RCV003421030] Chr1:185962541 [GRCh38]
Chr1:185931673 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9186C>T (p.Asp3062=) single nucleotide variant not provided [RCV003421288] Chr1:186087468 [GRCh38]
Chr1:186056600 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3323C>T (p.Pro1108Leu) single nucleotide variant not provided [RCV003693193] Chr1:185990389 [GRCh38]
Chr1:185959521 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9249G>T (p.Ser3083=) single nucleotide variant not provided [RCV003739915] Chr1:186087531 [GRCh38]
Chr1:186056663 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2588_2589delinsTG (p.Gly863Val) indel not provided [RCV003572318] Chr1:185980999..185981000 [GRCh38]
Chr1:185950131..185950132 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10399A>T (p.Met3467Leu) single nucleotide variant not provided [RCV003547099] Chr1:186095347 [GRCh38]
Chr1:186064479 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9613G>A (p.Gly3205Arg) single nucleotide variant not provided [RCV003695591] Chr1:186088641 [GRCh38]
Chr1:186057773 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4110G>C (p.Val1370=) single nucleotide variant not provided [RCV003573817] Chr1:186001338 [GRCh38]
Chr1:185970470 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3506-17C>G single nucleotide variant not provided [RCV003714607] Chr1:185994798 [GRCh38]
Chr1:185963930 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.5300+12G>C single nucleotide variant not provided [RCV003694217] Chr1:186017083 [GRCh38]
Chr1:185986215 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2861A>G (p.Asp954Gly) single nucleotide variant not provided [RCV003881439] Chr1:185984239 [GRCh38]
Chr1:185953371 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11402A>T (p.His3801Leu) single nucleotide variant not provided [RCV003739757] Chr1:186114944 [GRCh38]
Chr1:186084076 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1779T>C (p.Val593=) single nucleotide variant not provided [RCV003849044] Chr1:185933775 [GRCh38]
Chr1:185902907 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15712G>A (p.Val5238Ile) single nucleotide variant not provided [RCV003574169] Chr1:186172029 [GRCh38]
Chr1:186141161 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10682C>T (p.Thr3561Ile) single nucleotide variant not provided [RCV003546130] Chr1:186103580 [GRCh38]
Chr1:186072712 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16047G>T (p.Gly5349=) single nucleotide variant not provided [RCV003878084] Chr1:186178519 [GRCh38]
Chr1:186147651 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12095-18T>A single nucleotide variant not provided [RCV003578284] Chr1:186119993 [GRCh38]
Chr1:186089125 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16440T>A (p.Asn5480Lys) single nucleotide variant not provided [RCV003714962] Chr1:186187908 [GRCh38]
Chr1:186157040 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13335G>A (p.Glu4445=) single nucleotide variant not provided [RCV003663079] Chr1:186136690 [GRCh38]
Chr1:186105822 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15439+7A>C single nucleotide variant not provided [RCV003578343] Chr1:186166310 [GRCh38]
Chr1:186135442 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9888-15T>C single nucleotide variant not provided [RCV003574295] Chr1:186093119 [GRCh38]
Chr1:186062251 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11525A>G (p.His3842Arg) single nucleotide variant not provided [RCV003692570] Chr1:186115378 [GRCh38]
Chr1:186084510 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3062T>C (p.Ile1021Thr) single nucleotide variant not provided [RCV003830051] Chr1:185989501 [GRCh38]
Chr1:185958633 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14551C>T (p.Arg4851Cys) single nucleotide variant not provided [RCV003740363] Chr1:186145866 [GRCh38]
Chr1:186114998 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14615C>T (p.Pro4872Leu) single nucleotide variant not provided [RCV003546408] Chr1:186151206 [GRCh38]
Chr1:186120338 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.375T>C (p.Ala125=) single nucleotide variant not provided [RCV003689140] Chr1:185864505 [GRCh38]
Chr1:185833637 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13274C>T (p.Ala4425Val) single nucleotide variant not provided [RCV003716487] Chr1:186132371 [GRCh38]
Chr1:186101503 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6316A>G (p.Ile2106Val) single nucleotide variant not provided [RCV003828840] Chr1:186045699 [GRCh38]
Chr1:186014831 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14438-2A>G single nucleotide variant not provided [RCV003877115] Chr1:186145751 [GRCh38]
Chr1:186114883 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4681A>G (p.Ile1561Val) single nucleotide variant not provided [RCV003693790] Chr1:186015209 [GRCh38]
Chr1:185984341 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13102A>G (p.Ile4368Val) single nucleotide variant not provided [RCV003831759] Chr1:186130569 [GRCh38]
Chr1:186099701 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11956+9_11956+17del deletion not provided [RCV003576579] Chr1:186119306..186119314 [GRCh38]
Chr1:186088438..186088446 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3851T>C (p.Ile1284Thr) single nucleotide variant not provided [RCV003830017] Chr1:185997501 [GRCh38]
Chr1:185966633 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13921C>G (p.Pro4641Ala) single nucleotide variant not provided [RCV003662395] Chr1:186137969 [GRCh38]
Chr1:186107101 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11315C>T (p.Ser3772Leu) single nucleotide variant not provided [RCV003828842] Chr1:186114857 [GRCh38]
Chr1:186083989 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15470C>T (p.Thr5157Ile) single nucleotide variant not provided [RCV003715648] Chr1:186166838 [GRCh38]
Chr1:186135970 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15859C>A (p.Gln5287Lys) single nucleotide variant not provided [RCV003548006] Chr1:186174558 [GRCh38]
Chr1:186143690 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13695G>A (p.Gly4565=) single nucleotide variant not provided [RCV003578546] Chr1:186137610 [GRCh38]
Chr1:186106742 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16295-17G>C single nucleotide variant not provided [RCV003688652] Chr1:186182151 [GRCh38]
Chr1:186151283 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15410C>T (p.Thr5137Ile) single nucleotide variant not provided [RCV003715647] Chr1:186166274 [GRCh38]
Chr1:186135406 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13454G>A (p.Arg4485Gln) single nucleotide variant not provided [RCV003659793] Chr1:186136809 [GRCh38]
Chr1:186105941 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16178A>T (p.His5393Leu) single nucleotide variant not provided [RCV003688101] Chr1:186178650 [GRCh38]
Chr1:186147782 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14128A>G (p.Ser4710Gly) single nucleotide variant not provided [RCV003714949] Chr1:186144565 [GRCh38]
Chr1:186113697 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11106A>G (p.Thr3702=) single nucleotide variant not provided [RCV003666220] Chr1:186112928 [GRCh38]
Chr1:186082060 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4941G>A (p.Thr1647=) single nucleotide variant HMCN1-related disorder [RCV004753724]|not provided [RCV003825332] Chr1:186015989 [GRCh38]
Chr1:185985121 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1903G>C (p.Ala635Pro) single nucleotide variant not provided [RCV003715100] Chr1:185962592 [GRCh38]
Chr1:185931724 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10552C>A (p.His3518Asn) single nucleotide variant not provided [RCV003574372] Chr1:186095500 [GRCh38]
Chr1:186064632 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5222C>T (p.Thr1741Ile) single nucleotide variant not provided [RCV003828845] Chr1:186016993 [GRCh38]
Chr1:185986125 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.570C>T (p.Ala190=) single nucleotide variant not provided [RCV003578290] Chr1:185865812 [GRCh38]
Chr1:185834944 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15320-12T>C single nucleotide variant not provided [RCV003825702] Chr1:186166172 [GRCh38]
Chr1:186135304 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.2374C>T (p.Pro792Ser) single nucleotide variant not provided [RCV003828207] Chr1:185977789 [GRCh38]
Chr1:185946921 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9180C>A (p.Asp3060Glu) single nucleotide variant not provided [RCV003545739] Chr1:186087462 [GRCh38]
Chr1:186056594 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.900+14A>G single nucleotide variant not provided [RCV003688239] Chr1:185911794 [GRCh38]
Chr1:185880926 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9060A>G (p.Leu3020=) single nucleotide variant not provided [RCV003715236] Chr1:186087230 [GRCh38]
Chr1:186056362 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8877T>C (p.Asn2959=) single nucleotide variant not provided [RCV003827499] Chr1:186082954 [GRCh38]
Chr1:186052086 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13979G>A (p.Gly4660Glu) single nucleotide variant not provided [RCV003574011] Chr1:186144227 [GRCh38]
Chr1:186113359 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6018G>A (p.Leu2006=) single nucleotide variant not provided [RCV003826195] Chr1:186038995 [GRCh38]
Chr1:186008127 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8828G>A (p.Cys2943Tyr) single nucleotide variant not provided [RCV003692796] Chr1:186082905 [GRCh38]
Chr1:186052037 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13231-14del deletion not provided [RCV003693397] Chr1:186132314 [GRCh38]
Chr1:186101446 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4576A>T (p.Thr1526Ser) single nucleotide variant not provided [RCV003688475] Chr1:186007228 [GRCh38]
Chr1:185976360 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4348+18T>A single nucleotide variant not provided [RCV003689247] Chr1:186001759 [GRCh38]
Chr1:185970891 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13626T>C (p.Ser4542=) single nucleotide variant not provided [RCV003715955] Chr1:186137541 [GRCh38]
Chr1:186106673 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8559G>T (p.Glu2853Asp) single nucleotide variant not provided [RCV003692854] Chr1:186078180 [GRCh38]
Chr1:186047312 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6704C>T (p.Ser2235Phe) single nucleotide variant not provided [RCV003578342] Chr1:186053828 [GRCh38]
Chr1:186022960 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.23A>T (p.His8Leu) single nucleotide variant not provided [RCV003876474] Chr1:185734802 [GRCh38]
Chr1:185703934 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.5808C>A (p.Asn1936Lys) single nucleotide variant not provided [RCV003662248] Chr1:186037992 [GRCh38]
Chr1:186007124 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9049G>C (p.Gly3017Arg) single nucleotide variant not provided [RCV003826337] Chr1:186087219 [GRCh38]
Chr1:186056351 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8414C>G (p.Pro2805Arg) single nucleotide variant not provided [RCV003827107] Chr1:186076551 [GRCh38]
Chr1:186045683 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12920T>C (p.Val4307Ala) single nucleotide variant not provided [RCV003576817] Chr1:186129981 [GRCh38]
Chr1:186099113 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5188T>C (p.Leu1730=) single nucleotide variant not provided [RCV003713503] Chr1:186016236 [GRCh38]
Chr1:185985368 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3761T>C (p.Ile1254Thr) single nucleotide variant not provided [RCV003687967] Chr1:185995070 [GRCh38]
Chr1:185964202 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8076G>A (p.Leu2692=) single nucleotide variant not provided [RCV003716158] Chr1:186070694 [GRCh38]
Chr1:186039826 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6849T>C (p.Asn2283=) single nucleotide variant not provided [RCV003695658] Chr1:186053973 [GRCh38]
Chr1:186023105 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.275G>A (p.Gly92Asp) single nucleotide variant not provided [RCV003544758] Chr1:185846032 [GRCh38]
Chr1:185815164 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11957-12G>T single nucleotide variant not provided [RCV003715497] Chr1:186119733 [GRCh38]
Chr1:186088865 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10718A>T (p.Asp3573Val) single nucleotide variant not provided [RCV003575614] Chr1:186103616 [GRCh38]
Chr1:186072748 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10704C>T (p.Pro3568=) single nucleotide variant not provided [RCV003826503] Chr1:186103602 [GRCh38]
Chr1:186072734 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10106C>T (p.Thr3369Met) single nucleotide variant not provided [RCV003877093] Chr1:186093579 [GRCh38]
Chr1:186062711 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.499-15T>G single nucleotide variant not provided [RCV003687641] Chr1:185865726 [GRCh38]
Chr1:185834858 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1430+20A>G single nucleotide variant not provided [RCV003830067] Chr1:185925211 [GRCh38]
Chr1:185894343 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.498+10A>T single nucleotide variant not provided [RCV003578203] Chr1:185864638 [GRCh38]
Chr1:185833770 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7263C>T (p.Phe2421=) single nucleotide variant not provided [RCV003578265] Chr1:186057352 [GRCh38]
Chr1:186026484 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9020T>A (p.Leu3007Gln) single nucleotide variant not provided [RCV003573260] Chr1:186086381 [GRCh38]
Chr1:186055513 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14266+7_14266+22del deletion not provided [RCV003878754] Chr1:186144703..186144718 [GRCh38]
Chr1:186113835..186113850 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6701-17T>G single nucleotide variant not provided [RCV003690454] Chr1:186053808 [GRCh38]
Chr1:186022940 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11091T>C (p.Ile3697=) single nucleotide variant not provided [RCV003739668] Chr1:186112913 [GRCh38]
Chr1:186082045 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4909+15_4909+18dup duplication not provided [RCV003830205] Chr1:186015451..186015452 [GRCh38]
Chr1:185984583..185984584 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3217A>G (p.Arg1073Gly) single nucleotide variant not provided [RCV003878855] Chr1:185990283 [GRCh38]
Chr1:185959415 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11313A>G (p.Gln3771=) single nucleotide variant not provided [RCV003824406] Chr1:186114855 [GRCh38]
Chr1:186083987 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.498+19del deletion not provided [RCV003830269] Chr1:185864644 [GRCh38]
Chr1:185833776 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.10816G>A (p.Gly3606Arg) single nucleotide variant not provided [RCV003824574] Chr1:186106929 [GRCh38]
Chr1:186076061 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11060C>G (p.Thr3687Arg) single nucleotide variant not provided [RCV003577223] Chr1:186112882 [GRCh38]
Chr1:186082014 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12833G>A (p.Arg4278Gln) single nucleotide variant not provided [RCV003546201]|not specified [RCV004369090] Chr1:186128220 [GRCh38]
Chr1:186097352 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9306G>A (p.Glu3102=) single nucleotide variant not provided [RCV003829490] Chr1:186087588 [GRCh38]
Chr1:186056720 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9363+7del deletion not provided [RCV003694451] Chr1:186087652 [GRCh38]
Chr1:186056784 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8221G>A (p.Gly2741Arg) single nucleotide variant not provided [RCV003882194]|not specified [RCV004369670] Chr1:186074822 [GRCh38]
Chr1:186043954 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9070C>T (p.Arg3024Trp) single nucleotide variant not provided [RCV003824526] Chr1:186087240 [GRCh38]
Chr1:186056372 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7773C>G (p.Ser2591Arg) single nucleotide variant not provided [RCV003876310] Chr1:186067901 [GRCh38]
Chr1:186037033 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10570C>A (p.Leu3524Ile) single nucleotide variant not provided [RCV003574373] Chr1:186095518 [GRCh38]
Chr1:186064650 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5480C>A (p.Thr1827Lys) single nucleotide variant not provided [RCV003694147] Chr1:186019550 [GRCh38]
Chr1:185988682 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13227T>C (p.Thr4409=) single nucleotide variant not provided [RCV003576821] Chr1:186130694 [GRCh38]
Chr1:186099826 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.264T>C (p.Asp88=) single nucleotide variant not provided [RCV003830046] Chr1:185735043 [GRCh38]
Chr1:185704175 [GRCh37]
Chr1:1q25.3		 likely benign
NM_031935.3(HMCN1):c.5749+18C>A single nucleotide variant not provided [RCV003690197] Chr1:186023171 [GRCh38]
Chr1:185992303 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6370C>A (p.Leu2124Ile) single nucleotide variant not provided [RCV003831315] Chr1:186045753 [GRCh38]
Chr1:186014885 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16415-20G>T single nucleotide variant not provided [RCV003660570] Chr1:186187863 [GRCh38]
Chr1:186156995 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14452G>A (p.Gly4818Arg) single nucleotide variant not provided [RCV003829998] Chr1:186145767 [GRCh38]
Chr1:186114899 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3784C>T (p.Pro1262Ser) single nucleotide variant not provided [RCV003686715] Chr1:185997434 [GRCh38]
Chr1:185966566 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8218A>T (p.Thr2740Ser) single nucleotide variant not provided [RCV003545806] Chr1:186074819 [GRCh38]
Chr1:186043951 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6727G>C (p.Gly2243Arg) single nucleotide variant not provided [RCV003689172] Chr1:186053851 [GRCh38]
Chr1:186022983 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14160C>T (p.Ala4720=) single nucleotide variant not provided [RCV003877806] Chr1:186144597 [GRCh38]
Chr1:186113729 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5837G>T (p.Gly1946Val) single nucleotide variant not provided [RCV003690292] Chr1:186038021 [GRCh38]
Chr1:186007153 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6568A>G (p.Asn2190Asp) single nucleotide variant not provided [RCV003881502] Chr1:186048830 [GRCh38]
Chr1:186017962 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8691T>C (p.Ser2897=) single nucleotide variant not provided [RCV003572750] Chr1:186081298 [GRCh38]
Chr1:186050430 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13589G>A (p.Gly4530Asp) single nucleotide variant not provided [RCV003546355] Chr1:186137504 [GRCh38]
Chr1:186106636 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4076C>T (p.Pro1359Leu) single nucleotide variant not provided [RCV003878020] Chr1:186001304 [GRCh38]
Chr1:185970436 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.948T>C (p.Thr316=) single nucleotide variant not provided [RCV003881588] Chr1:185922426 [GRCh38]
Chr1:185891558 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14523C>T (p.Cys4841=) single nucleotide variant not provided [RCV003827180] Chr1:186145838 [GRCh38]
Chr1:186114970 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7699G>A (p.Val2567Ile) single nucleotide variant not provided [RCV003713402] Chr1:186065423 [GRCh38]
Chr1:186034555 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1480G>T (p.Glu494Ter) single nucleotide variant not provided [RCV003716131] Chr1:185928595 [GRCh38]
Chr1:185897727 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12805G>A (p.Val4269Met) single nucleotide variant not provided [RCV003713344] Chr1:186128192 [GRCh38]
Chr1:186097324 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5851+15G>A single nucleotide variant not provided [RCV003575865] Chr1:186038050 [GRCh38]
Chr1:186007182 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16531C>A (p.Pro5511Thr) single nucleotide variant not provided [RCV003690873] Chr1:186187999 [GRCh38]
Chr1:186157131 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12952G>A (p.Val4318Met) single nucleotide variant not provided [RCV003544651] Chr1:186130013 [GRCh38]
Chr1:186099145 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16503A>C (p.Thr5501=) single nucleotide variant not provided [RCV003575392] Chr1:186187971 [GRCh38]
Chr1:186157103 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.115G>A (p.Ala39Thr) single nucleotide variant not provided [RCV003716187] Chr1:185734894 [GRCh38]
Chr1:185704026 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.929G>T (p.Arg310Leu) single nucleotide variant not provided [RCV003663397] Chr1:185922407 [GRCh38]
Chr1:185891539 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1526G>A (p.Arg509Gln) single nucleotide variant not provided [RCV003827709] Chr1:185928641 [GRCh38]
Chr1:185897773 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8178T>C (p.Asn2726=) single nucleotide variant not provided [RCV003547482] Chr1:186074779 [GRCh38]
Chr1:186043911 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15697G>A (p.Glu5233Lys) single nucleotide variant not provided [RCV003545933]|not specified [RCV004369080] Chr1:186172014 [GRCh38]
Chr1:186141146 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6874A>G (p.Ile2292Val) single nucleotide variant not provided [RCV003715265] Chr1:186055404 [GRCh38]
Chr1:186024536 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7077C>T (p.Gly2359=) single nucleotide variant not provided [RCV003576042] Chr1:186055607 [GRCh38]
Chr1:186024739 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1394G>A (p.Arg465Lys) single nucleotide variant not provided [RCV003714168] Chr1:185925155 [GRCh38]
Chr1:185894287 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1759G>A (p.Gly587Arg) single nucleotide variant not provided [RCV003545141] Chr1:185933755 [GRCh38]
Chr1:185902887 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11319A>C (p.Ala3773=) single nucleotide variant not provided [RCV003714147] Chr1:186114861 [GRCh38]
Chr1:186083993 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1926G>T (p.Lys642Asn) single nucleotide variant not provided [RCV003712954] Chr1:185962615 [GRCh38]
Chr1:185931747 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8598C>T (p.Leu2866=) single nucleotide variant not provided [RCV003877301] Chr1:186078219 [GRCh38]
Chr1:186047351 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1143A>T (p.Pro381=) single nucleotide variant not provided [RCV003877581] Chr1:185923511 [GRCh38]
Chr1:185892643 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16415-17C>T single nucleotide variant not provided [RCV003688075] Chr1:186187866 [GRCh38]
Chr1:186156998 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1863G>A (p.Gln621=) single nucleotide variant not provided [RCV003662631] Chr1:185962552 [GRCh38]
Chr1:185931684 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2791-16T>G single nucleotide variant not provided [RCV003811666] Chr1:185984153 [GRCh38]
Chr1:185953285 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8784G>A (p.Leu2928=) single nucleotide variant not provided [RCV003850156] Chr1:186081391 [GRCh38]
Chr1:186050523 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3479C>T (p.Thr1160Ile) single nucleotide variant not provided [RCV003851211] Chr1:185993283 [GRCh38]
Chr1:185962415 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8448C>G (p.His2816Gln) single nucleotide variant not provided [RCV003557776] Chr1:186076585 [GRCh38]
Chr1:186045717 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11244G>A (p.Lys3748=) single nucleotide variant not provided [RCV003850312] Chr1:186114091 [GRCh38]
Chr1:186083223 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9537A>G (p.Pro3179=) single nucleotide variant not provided [RCV003697829] Chr1:186088236 [GRCh38]
Chr1:186057368 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15139C>A (p.Gln5047Lys) single nucleotide variant not provided [RCV003716881] Chr1:186153870 [GRCh38]
Chr1:186123002 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2448T>C (p.Val816=) single nucleotide variant not provided [RCV003580539] Chr1:185977863 [GRCh38]
Chr1:185946995 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12186C>T (p.Asn4062=) single nucleotide variant not provided [RCV003664318] Chr1:186120102 [GRCh38]
Chr1:186089234 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1170T>C (p.Asn390=) single nucleotide variant not provided [RCV003834973] Chr1:185923538 [GRCh38]
Chr1:185892670 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2016T>A (p.Ala672=) single nucleotide variant not provided [RCV003550107] Chr1:185963813 [GRCh38]
Chr1:185932945 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7513+19G>A single nucleotide variant not provided [RCV003665534] Chr1:186062619 [GRCh38]
Chr1:186031751 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15149G>A (p.Gly5050Glu) single nucleotide variant not provided [RCV003834202] Chr1:186153880 [GRCh38]
Chr1:186123012 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14236A>G (p.Ser4746Gly) single nucleotide variant not provided [RCV003849814] Chr1:186144673 [GRCh38]
Chr1:186113805 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14217C>T (p.Cys4739=) single nucleotide variant not provided [RCV003717397] Chr1:186144654 [GRCh38]
Chr1:186113786 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5132T>C (p.Ile1711Thr) single nucleotide variant not provided [RCV003810798]|not specified [RCV004366705] Chr1:186016180 [GRCh38]
Chr1:185985312 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16710C>T (p.Leu5570=) single nucleotide variant not provided [RCV003717533] Chr1:186189680 [GRCh38]
Chr1:186158812 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15335C>A (p.Ala5112Glu) single nucleotide variant not provided [RCV003835729] Chr1:186166199 [GRCh38]
Chr1:186135331 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15763A>C (p.Ile5255Leu) single nucleotide variant not provided [RCV003832595] Chr1:186172080 [GRCh38]
Chr1:186141212 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5852-13C>T single nucleotide variant not provided [RCV003810942] Chr1:186038816 [GRCh38]
Chr1:186007948 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1817T>G (p.Leu606Arg) single nucleotide variant not provided [RCV003580329] Chr1:185933813 [GRCh38]
Chr1:185902945 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4657G>A (p.Val1553Ile) single nucleotide variant not provided [RCV003666363] Chr1:186015185 [GRCh38]
Chr1:185984317 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13942G>A (p.Ala4648Thr) single nucleotide variant not provided [RCV003850082] Chr1:186144190 [GRCh38]
Chr1:186113322 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3586G>C (p.Gly1196Arg) single nucleotide variant not provided [RCV003851173] Chr1:185994895 [GRCh38]
Chr1:185964027 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11863C>T (p.Leu3955Phe) single nucleotide variant not provided [RCV003580546] Chr1:186119205 [GRCh38]
Chr1:186088337 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9728-4A>G single nucleotide variant not provided [RCV003856473] Chr1:186090754 [GRCh38]
Chr1:186059886 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11638A>G (p.Asn3880Asp) single nucleotide variant not provided [RCV003664298] Chr1:186117070 [GRCh38]
Chr1:186086202 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6313A>G (p.Asn2105Asp) single nucleotide variant not provided [RCV003670404] Chr1:186045696 [GRCh38]
Chr1:186014828 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14588G>A (p.Cys4863Tyr) single nucleotide variant not provided [RCV003716858] Chr1:186145903 [GRCh38]
Chr1:186115035 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4997del (p.Ala1666fs) deletion not provided [RCV003851875] Chr1:186016045 [GRCh38]
Chr1:185985177 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7488T>C (p.Ser2496=) single nucleotide variant not provided [RCV003671939] Chr1:186062575 [GRCh38]
Chr1:186031707 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13958G>A (p.Gly4653Glu) single nucleotide variant not provided [RCV003667977] Chr1:186144206 [GRCh38]
Chr1:186113338 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3842A>G (p.Asn1281Ser) single nucleotide variant not provided [RCV003726665] Chr1:185997492 [GRCh38]
Chr1:185966624 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14941G>T (p.Asp4981Tyr) single nucleotide variant not provided [RCV003836831] Chr1:186152794 [GRCh38]
Chr1:186121926 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15148G>A (p.Gly5050Arg) single nucleotide variant not provided [RCV003855872] Chr1:186153879 [GRCh38]
Chr1:186123011 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1037T>C (p.Val346Ala) single nucleotide variant not provided [RCV003703671] Chr1:185923405 [GRCh38]
Chr1:185892537 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3076G>A (p.Ala1026Thr) single nucleotide variant not provided [RCV003579656] Chr1:185989515 [GRCh38]
Chr1:185958647 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1725A>G (p.Ser575=) single nucleotide variant not provided [RCV003548150] Chr1:185933721 [GRCh38]
Chr1:185902853 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1337C>T (p.Pro446Leu) single nucleotide variant not provided [RCV003561384] Chr1:185925098 [GRCh38]
Chr1:185894230 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6573T>C (p.Ile2191=) single nucleotide variant not provided [RCV003832620] Chr1:186048835 [GRCh38]
Chr1:186017967 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8613C>G (p.Ile2871Met) single nucleotide variant not provided [RCV003561747] Chr1:186081220 [GRCh38]
Chr1:186050352 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3206A>G (p.Tyr1069Cys) single nucleotide variant not provided [RCV003549736] Chr1:185989645 [GRCh38]
Chr1:185958777 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10853-5C>A single nucleotide variant not provided [RCV003717595] Chr1:186108456 [GRCh38]
Chr1:186077588 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15256+7dup duplication not provided [RCV003811568] Chr1:186153991..186153992 [GRCh38]
Chr1:186123123..186123124 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5851+5A>C single nucleotide variant not provided [RCV003562013] Chr1:186038040 [GRCh38]
Chr1:186007172 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4200+19A>G single nucleotide variant not provided [RCV003702586] Chr1:186001447 [GRCh38]
Chr1:185970579 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5343C>A (p.Phe1781Leu) single nucleotide variant not provided [RCV003726261] Chr1:186018225 [GRCh38]
Chr1:185987357 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3874+6T>C single nucleotide variant not provided [RCV003839276] Chr1:185997530 [GRCh38]
Chr1:185966662 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13659T>C (p.Ser4553=) single nucleotide variant not provided [RCV003856323] Chr1:186137574 [GRCh38]
Chr1:186106706 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7311A>G (p.Ser2437=) single nucleotide variant not provided [RCV003726863] Chr1:186057400 [GRCh38]
Chr1:186026532 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10632C>T (p.Asn3544=) single nucleotide variant not provided [RCV003726865] Chr1:186103530 [GRCh38]
Chr1:186072662 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11277-18T>A single nucleotide variant not provided [RCV003659156] Chr1:186114801 [GRCh38]
Chr1:186083933 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2791-20A>C single nucleotide variant not provided [RCV003839884] Chr1:185984149 [GRCh38]
Chr1:185953281 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1720C>A (p.Leu574Met) single nucleotide variant not provided [RCV003664780] Chr1:185933716 [GRCh38]
Chr1:185902848 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8239G>A (p.Ala2747Thr) single nucleotide variant not provided [RCV003725892] Chr1:186074840 [GRCh38]
Chr1:186043972 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9329C>G (p.Ala3110Gly) single nucleotide variant not provided [RCV003703611] Chr1:186087611 [GRCh38]
Chr1:186056743 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4224G>A (p.Gln1408=) single nucleotide variant not provided [RCV003725762] Chr1:186001617 [GRCh38]
Chr1:185970749 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2803C>T (p.Pro935Ser) single nucleotide variant not provided [RCV003580656] Chr1:185984181 [GRCh38]
Chr1:185953313 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15039T>G (p.Ile5013Met) single nucleotide variant not provided [RCV003852474] Chr1:186153770 [GRCh38]
Chr1:186122902 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5191+9G>A single nucleotide variant not provided [RCV003671315] Chr1:186016248 [GRCh38]
Chr1:185985380 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13017A>G (p.Ala4339=) single nucleotide variant not provided [RCV003667659] Chr1:186130078 [GRCh38]
Chr1:186099210 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.313T>A (p.Tyr105Asn) single nucleotide variant not provided [RCV003549136] Chr1:185846070 [GRCh38]
Chr1:185815202 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3874+2T>C single nucleotide variant not provided [RCV003836196] Chr1:185997526 [GRCh38]
Chr1:185966658 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11433C>T (p.Thr3811=) single nucleotide variant not provided [RCV003836211] Chr1:186115286 [GRCh38]
Chr1:186084418 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11446A>C (p.Ile3816Leu) single nucleotide variant not provided [RCV003850713] Chr1:186115299 [GRCh38]
Chr1:186084431 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10512C>T (p.Tyr3504=) single nucleotide variant not provided [RCV003666494] Chr1:186095460 [GRCh38]
Chr1:186064592 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12793C>A (p.Leu4265Ile) single nucleotide variant not provided [RCV003671487] Chr1:186128180 [GRCh38]
Chr1:186097312 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14177G>A (p.Gly4726Asp) single nucleotide variant not provided [RCV003559177] Chr1:186144614 [GRCh38]
Chr1:186113746 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13554C>A (p.Val4518=) single nucleotide variant not provided [RCV003668361] Chr1:186136909 [GRCh38]
Chr1:186106041 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4491C>T (p.Gly1497=) single nucleotide variant not provided [RCV003816453] Chr1:186007143 [GRCh38]
Chr1:185976275 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10012+14A>G single nucleotide variant not provided [RCV003814936] Chr1:186093272 [GRCh38]
Chr1:186062404 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12201C>T (p.Ala4067=) single nucleotide variant not provided [RCV003855625] Chr1:186120117 [GRCh38]
Chr1:186089249 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5184T>C (p.Asp1728=) single nucleotide variant not provided [RCV003814948] Chr1:186016232 [GRCh38]
Chr1:185985364 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2663-6A>C single nucleotide variant not provided [RCV003558040] Chr1:185982256 [GRCh38]
Chr1:185951388 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10006G>A (p.Val3336Ile) single nucleotide variant not provided [RCV003669471] Chr1:186093252 [GRCh38]
Chr1:186062384 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4184A>T (p.Tyr1395Phe) single nucleotide variant not provided [RCV003849910] Chr1:186001412 [GRCh38]
Chr1:185970544 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2344A>G (p.Thr782Ala) single nucleotide variant not provided [RCV003560793] Chr1:185970466 [GRCh38]
Chr1:185939598 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15944-6G>A single nucleotide variant not provided [RCV003855643] Chr1:186178410 [GRCh38]
Chr1:186147542 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11277-15T>C single nucleotide variant not provided [RCV003855561] Chr1:186114804 [GRCh38]
Chr1:186083936 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.928C>T (p.Arg310Cys) single nucleotide variant not provided [RCV003836810] Chr1:185922406 [GRCh38]
Chr1:185891538 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.243T>C (p.Phe81=) single nucleotide variant not provided [RCV003817089] Chr1:185735022 [GRCh38]
Chr1:185704154 [GRCh37]
Chr1:1q25.3		 likely benign
NM_031935.3(HMCN1):c.15365A>G (p.His5122Arg) single nucleotide variant not provided [RCV003855870] Chr1:186166229 [GRCh38]
Chr1:186135361 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5041C>T (p.Pro1681Ser) single nucleotide variant not provided [RCV003724443] Chr1:186016089 [GRCh38]
Chr1:185985221 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.499-12T>G single nucleotide variant not provided [RCV003855266] Chr1:185865729 [GRCh38]
Chr1:185834861 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4113G>A (p.Ser1371=) single nucleotide variant not provided [RCV003725976] Chr1:186001341 [GRCh38]
Chr1:185970473 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13726C>G (p.Arg4576Gly) single nucleotide variant not provided [RCV003835555] Chr1:186137641 [GRCh38]
Chr1:186106773 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12500-15_12500-14del deletion not provided [RCV003855922] Chr1:186125585..186125586 [GRCh38]
Chr1:186094717..186094718 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15634A>T (p.Ser5212Cys) single nucleotide variant not provided [RCV003838992] Chr1:186171396 [GRCh38]
Chr1:186140528 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13103T>A (p.Ile4368Asn) single nucleotide variant not provided [RCV003834770] Chr1:186130570 [GRCh38]
Chr1:186099702 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.622-11C>T single nucleotide variant not provided [RCV003812142] Chr1:185909326 [GRCh38]
Chr1:185878458 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.15440A>G (p.Asp5147Gly) single nucleotide variant not provided [RCV003700560] Chr1:186166808 [GRCh38]
Chr1:186135940 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6207A>G (p.Ala2069=) single nucleotide variant not provided [RCV003838714] Chr1:186041039 [GRCh38]
Chr1:186010171 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8464_8471del (p.Asp2822fs) deletion not provided [RCV003700511] Chr1:186076597..186076604 [GRCh38]
Chr1:186045729..186045736 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16881T>C (p.Tyr5627=) single nucleotide variant not provided [RCV003671314] Chr1:186189851 [GRCh38]
Chr1:186158983 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11943C>A (p.Thr3981=) single nucleotide variant not provided [RCV003673754] Chr1:186119285 [GRCh38]
Chr1:186088417 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10893C>A (p.Ile3631=) single nucleotide variant not provided [RCV003561720] Chr1:186108501 [GRCh38]
Chr1:186077633 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10729A>T (p.Thr3577Ser) single nucleotide variant not provided [RCV003814652] Chr1:186103627 [GRCh38]
Chr1:186072759 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1648A>T (p.Asn550Tyr) single nucleotide variant not provided [RCV003816724] Chr1:185933644 [GRCh38]
Chr1:185902776 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12821G>C (p.Gly4274Ala) single nucleotide variant not provided [RCV003717992] Chr1:186128208 [GRCh38]
Chr1:186097340 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10107G>A (p.Thr3369=) single nucleotide variant not provided [RCV003854500] Chr1:186093580 [GRCh38]
Chr1:186062712 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16382A>G (p.Tyr5461Cys) single nucleotide variant not provided [RCV003667992] Chr1:186182255 [GRCh38]
Chr1:186151387 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1081CTT[1] (p.Leu362del) microsatellite not provided [RCV003724023] Chr1:185923448..185923450 [GRCh38]
Chr1:185892580..185892582 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5078G>C (p.Gly1693Ala) single nucleotide variant not provided [RCV003855263] Chr1:186016126 [GRCh38]
Chr1:185985258 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13423C>T (p.Arg4475Cys) single nucleotide variant not provided [RCV003816525] Chr1:186136778 [GRCh38]
Chr1:186105910 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11070T>C (p.Tyr3690=) single nucleotide variant not provided [RCV003663877] Chr1:186112892 [GRCh38]
Chr1:186082024 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13187T>C (p.Ile4396Thr) single nucleotide variant not provided [RCV003700197] Chr1:186130654 [GRCh38]
Chr1:186099786 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16193A>C (p.Tyr5398Ser) single nucleotide variant not provided [RCV003724549] Chr1:186178665 [GRCh38]
Chr1:186147797 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16478G>A (p.Arg5493Lys) single nucleotide variant not provided [RCV003838109] Chr1:186187946 [GRCh38]
Chr1:186157078 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13681C>G (p.Pro4561Ala) single nucleotide variant not provided [RCV003560081] Chr1:186137596 [GRCh38]
Chr1:186106728 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13347T>A (p.Thr4449=) single nucleotide variant not provided [RCV003855190] Chr1:186136702 [GRCh38]
Chr1:186105834 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7042C>T (p.Leu2348Phe) single nucleotide variant not provided [RCV003838829] Chr1:186055572 [GRCh38]
Chr1:186024704 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1527G>A (p.Arg509=) single nucleotide variant not provided [RCV003548077] Chr1:185928642 [GRCh38]
Chr1:185897774 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3430G>A (p.Asp1144Asn) single nucleotide variant not provided [RCV003550082] Chr1:185993234 [GRCh38]
Chr1:185962366 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2663-20T>C single nucleotide variant not provided [RCV003811325] Chr1:185982242 [GRCh38]
Chr1:185951374 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7014A>T (p.Gly2338=) single nucleotide variant not provided [RCV003811655] Chr1:186055544 [GRCh38]
Chr1:186024676 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2910del (p.Asn970fs) deletion not provided [RCV003580662] Chr1:185984288 [GRCh38]
Chr1:185953420 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8029C>T (p.Pro2677Ser) single nucleotide variant not provided [RCV003667106] Chr1:186070647 [GRCh38]
Chr1:186039779 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14759-14T>C single nucleotide variant not provided [RCV003668113] Chr1:186151592 [GRCh38]
Chr1:186120724 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5433T>C (p.Ala1811=) single nucleotide variant not provided [RCV003698141] Chr1:186018315 [GRCh38]
Chr1:185987447 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.79C>G (p.Gln27Glu) single nucleotide variant not provided [RCV003699738] Chr1:185734858 [GRCh38]
Chr1:185703990 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.1973A>T (p.Tyr658Phe) single nucleotide variant not provided [RCV003559946] Chr1:185963770 [GRCh38]
Chr1:185932902 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1971-12T>A single nucleotide variant not provided [RCV003816092] Chr1:185963756 [GRCh38]
Chr1:185932888 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5750-8T>A single nucleotide variant not provided [RCV003702360] Chr1:186037926 [GRCh38]
Chr1:186007058 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6470G>T (p.Ser2157Ile) single nucleotide variant not provided [RCV003717361] Chr1:186045853 [GRCh38]
Chr1:186014985 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1464G>T (p.Lys488Asn) single nucleotide variant not provided [RCV003700716] Chr1:185928579 [GRCh38]
Chr1:185897711 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1778T>C (p.Val593Ala) single nucleotide variant not provided [RCV003671164] Chr1:185933774 [GRCh38]
Chr1:185902906 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12765T>A (p.Thr4255=) single nucleotide variant not provided [RCV003725084] Chr1:186128152 [GRCh38]
Chr1:186097284 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4069+10G>A single nucleotide variant not provided [RCV003834440] Chr1:186000249 [GRCh38]
Chr1:185969381 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11848+4A>C single nucleotide variant not provided [RCV003671507] Chr1:186117627 [GRCh38]
Chr1:186086759 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14609-8C>T single nucleotide variant not provided [RCV003559053] Chr1:186151192 [GRCh38]
Chr1:186120324 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.323G>A (p.Arg108Lys) single nucleotide variant not provided [RCV003836257]|not specified [RCV004634372] Chr1:185846080 [GRCh38]
Chr1:185815212 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8787+3A>G single nucleotide variant not provided [RCV003667881] Chr1:186081397 [GRCh38]
Chr1:186050529 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15575-20A>C single nucleotide variant not provided [RCV003837093] Chr1:186171317 [GRCh38]
Chr1:186140449 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.621+3C>T single nucleotide variant not provided [RCV003671239] Chr1:185865866 [GRCh38]
Chr1:185834998 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11085C>T (p.Ser3695=) single nucleotide variant not provided [RCV003816239] Chr1:186112907 [GRCh38]
Chr1:186082039 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6510T>C (p.Gly2170=) single nucleotide variant not provided [RCV003696924] Chr1:186048772 [GRCh38]
Chr1:186017904 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9445+3G>A single nucleotide variant not provided [RCV003559133] Chr1:186088016 [GRCh38]
Chr1:186057148 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13241C>T (p.Ala4414Val) single nucleotide variant not provided [RCV003667434] Chr1:186132338 [GRCh38]
Chr1:186101470 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7612A>T (p.Thr2538Ser) single nucleotide variant not provided [RCV003667454] Chr1:186065336 [GRCh38]
Chr1:186034468 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10502C>T (p.Ser3501Leu) single nucleotide variant not provided [RCV003559250] Chr1:186095450 [GRCh38]
Chr1:186064582 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.835A>G (p.Asn279Asp) single nucleotide variant not provided [RCV003837599] Chr1:185911715 [GRCh38]
Chr1:185880847 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3372T>A (p.Ser1124=) single nucleotide variant not provided [RCV003667951] Chr1:185990438 [GRCh38]
Chr1:185959570 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7255A>T (p.Thr2419Ser) single nucleotide variant not provided [RCV003560358] Chr1:186057344 [GRCh38]
Chr1:186026476 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3664C>T (p.Pro1222Ser) single nucleotide variant not provided [RCV003666615] Chr1:185994973 [GRCh38]
Chr1:185964105 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9538C>T (p.Pro3180Ser) single nucleotide variant not provided [RCV003665767] Chr1:186088237 [GRCh38]
Chr1:186057369 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6609T>C (p.Leu2203=) single nucleotide variant not provided [RCV003728164] Chr1:186052983 [GRCh38]
Chr1:186022115 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3462T>C (p.Asn1154=) single nucleotide variant not provided [RCV003677298] Chr1:185993266 [GRCh38]
Chr1:185962398 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14533G>C (p.Val4845Leu) single nucleotide variant not provided [RCV003552949] Chr1:186145848 [GRCh38]
Chr1:186114980 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9577+10C>T single nucleotide variant not provided [RCV003848323] Chr1:186088286 [GRCh38]
Chr1:186057418 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6930C>T (p.Ile2310=) single nucleotide variant not provided [RCV003729203] Chr1:186055460 [GRCh38]
Chr1:186024592 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11974C>T (p.Pro3992Ser) single nucleotide variant not provided [RCV003552351] Chr1:186119762 [GRCh38]
Chr1:186088894 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11880C>A (p.Asn3960Lys) single nucleotide variant not provided [RCV003683146] Chr1:186119222 [GRCh38]
Chr1:186088354 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9414G>A (p.Arg3138=) single nucleotide variant not provided [RCV003841966] Chr1:186087982 [GRCh38]
Chr1:186057114 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2388A>G (p.Ile796Met) single nucleotide variant not provided [RCV003675386] Chr1:185977803 [GRCh38]
Chr1:185946935 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7560C>T (p.Leu2520=) single nucleotide variant not provided [RCV003729887] Chr1:186065284 [GRCh38]
Chr1:186034416 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10754G>A (p.Arg3585Gln) single nucleotide variant not provided [RCV003732710] Chr1:186103652 [GRCh38]
Chr1:186072784 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5301-7del deletion not provided [RCV003842189] Chr1:186018172 [GRCh38]
Chr1:185987304 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.9292C>A (p.Arg3098=) single nucleotide variant not provided [RCV003708347] Chr1:186087574 [GRCh38]
Chr1:186056706 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13881G>A (p.Gly4627=) single nucleotide variant not provided [RCV003566925] Chr1:186137929 [GRCh38]
Chr1:186107061 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16827C>T (p.Ala5609=) single nucleotide variant not provided [RCV003846004] Chr1:186189797 [GRCh38]
Chr1:186158929 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5301-12del deletion not provided [RCV003711256] Chr1:186018170 [GRCh38]
Chr1:185987302 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11467C>T (p.Leu3823=) single nucleotide variant not provided [RCV003728664] Chr1:186115320 [GRCh38]
Chr1:186084452 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8816G>A (p.Gly2939Asp) single nucleotide variant not provided [RCV003842349] Chr1:186082893 [GRCh38]
Chr1:186052025 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8750A>G (p.Asp2917Gly) single nucleotide variant not provided [RCV003677529] Chr1:186081357 [GRCh38]
Chr1:186050489 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5724A>G (p.Gln1908=) single nucleotide variant not provided [RCV003675762] Chr1:186023128 [GRCh38]
Chr1:185992260 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1637C>T (p.Ala546Val) single nucleotide variant not provided [RCV003846754]|not specified [RCV004634382] Chr1:185933633 [GRCh38]
Chr1:185902765 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2650G>A (p.Val884Met) single nucleotide variant not provided [RCV003709658] Chr1:185981061 [GRCh38]
Chr1:185950193 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4107T>C (p.Asn1369=) single nucleotide variant not provided [RCV003550499] Chr1:186001335 [GRCh38]
Chr1:185970467 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15803G>A (p.Gly5268Glu) single nucleotide variant not provided [RCV003734013] Chr1:186172120 [GRCh38]
Chr1:186141252 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10947C>T (p.Pro3649=) single nucleotide variant not provided [RCV003677786] Chr1:186108555 [GRCh38]
Chr1:186077687 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1628T>A (p.Ile543Asn) single nucleotide variant not provided [RCV003567423] Chr1:185933624 [GRCh38]
Chr1:185902756 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14221G>A (p.Gly4741Arg) single nucleotide variant not provided [RCV003860717] Chr1:186144658 [GRCh38]
Chr1:186113790 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13231-17G>T single nucleotide variant not provided [RCV003857192] Chr1:186132311 [GRCh38]
Chr1:186101443 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11450T>G (p.Val3817Gly) single nucleotide variant not provided [RCV003734033] Chr1:186115303 [GRCh38]
Chr1:186084435 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4738A>G (p.Thr1580Ala) single nucleotide variant not provided [RCV003863054] Chr1:186015266 [GRCh38]
Chr1:185984398 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16512A>C (p.Pro5504=) single nucleotide variant not provided [RCV003736048] Chr1:186187980 [GRCh38]
Chr1:186157112 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7797T>G (p.Ala2599=) single nucleotide variant not provided [RCV003844275] Chr1:186067925 [GRCh38]
Chr1:186037057 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2031G>T (p.Gly677=) single nucleotide variant not provided [RCV003707221] Chr1:185963828 [GRCh38]
Chr1:185932960 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15645T>C (p.Cys5215=) single nucleotide variant not provided [RCV003708373] Chr1:186171407 [GRCh38]
Chr1:186140539 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14792A>G (p.Asn4931Ser) single nucleotide variant not provided [RCV003864485] Chr1:186151639 [GRCh38]
Chr1:186120771 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3049-12C>T single nucleotide variant not provided [RCV003863030] Chr1:185989476 [GRCh38]
Chr1:185958608 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11831A>G (p.Tyr3944Cys) single nucleotide variant not provided [RCV003556718]|not specified [RCV004369154] Chr1:186117606 [GRCh38]
Chr1:186086738 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4547G>A (p.Arg1516Gln) single nucleotide variant not provided [RCV003736221]|not specified [RCV004374371] Chr1:186007199 [GRCh38]
Chr1:185976331 [GRCh37]
Chr1:1q31.1		 likely benign|uncertain significance
NM_031935.3(HMCN1):c.13039+5G>A single nucleotide variant not provided [RCV003736222] Chr1:186130105 [GRCh38]
Chr1:186099237 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7645A>T (p.Thr2549Ser) single nucleotide variant not provided [RCV003857406] Chr1:186065369 [GRCh38]
Chr1:186034501 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15288T>C (p.Phe5096=) single nucleotide variant not provided [RCV003818731] Chr1:186165142 [GRCh38]
Chr1:186134274 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10844G>A (p.Arg3615Lys) single nucleotide variant not provided [RCV003556616] Chr1:186106957 [GRCh38]
Chr1:186076089 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2931_2932delinsAA (p.His978Asn) indel not provided [RCV003675110] Chr1:185984309..185984310 [GRCh38]
Chr1:185953441..185953442 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14088T>C (p.Asn4696=) single nucleotide variant not provided [RCV003679295] Chr1:186144336 [GRCh38]
Chr1:186113468 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8599+14T>C single nucleotide variant not provided [RCV003680702] Chr1:186078234 [GRCh38]
Chr1:186047366 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5941G>A (p.Ala1981Thr) single nucleotide variant not provided [RCV003853556] Chr1:186038918 [GRCh38]
Chr1:186008050 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3560G>T (p.Arg1187Ile) single nucleotide variant not provided [RCV003707499] Chr1:185994869 [GRCh38]
Chr1:185964001 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9597A>T (p.Glu3199Asp) single nucleotide variant not provided [RCV003675181] Chr1:186088625 [GRCh38]
Chr1:186057757 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16780A>G (p.Thr5594Ala) single nucleotide variant not provided [RCV003711722] Chr1:186189750 [GRCh38]
Chr1:186158882 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11684-12T>C single nucleotide variant not provided [RCV003682520] Chr1:186117447 [GRCh38]
Chr1:186086579 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14859A>G (p.Ala4953=) single nucleotide variant not provided [RCV003729469] Chr1:186151706 [GRCh38]
Chr1:186120838 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5462C>T (p.Thr1821Ile) single nucleotide variant not provided [RCV003858269] Chr1:186018344 [GRCh38]
Chr1:185987476 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11132-6G>A single nucleotide variant not provided [RCV003678574] Chr1:186113973 [GRCh38]
Chr1:186083105 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.992T>C (p.Phe331Ser) single nucleotide variant not provided [RCV003541950] Chr1:185922470 [GRCh38]
Chr1:185891602 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7040T>A (p.Ile2347Asn) single nucleotide variant not provided [RCV003732227] Chr1:186055570 [GRCh38]
Chr1:186024702 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12624T>C (p.Leu4208=) single nucleotide variant not provided [RCV003708979] Chr1:186125728 [GRCh38]
Chr1:186094860 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8703A>G (p.Ala2901=) single nucleotide variant not provided [RCV003734385] Chr1:186081310 [GRCh38]
Chr1:186050442 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8670A>G (p.Ala2890=) single nucleotide variant not provided [RCV003682692] Chr1:186081277 [GRCh38]
Chr1:186050409 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15603C>T (p.Pro5201=) single nucleotide variant not provided [RCV003841673] Chr1:186171365 [GRCh38]
Chr1:186140497 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10989+16A>T single nucleotide variant not provided [RCV003676936] Chr1:186108613 [GRCh38]
Chr1:186077745 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15566G>A (p.Ser5189Asn) single nucleotide variant not provided [RCV003678470] Chr1:186166934 [GRCh38]
Chr1:186136066 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5632T>A (p.Ser1878Thr) single nucleotide variant not provided [RCV003542235] Chr1:186023036 [GRCh38]
Chr1:185992168 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15257G>A (p.Gly5086Glu) single nucleotide variant not provided [RCV003551463] Chr1:186165111 [GRCh38]
Chr1:186134243 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13063dup (p.Tyr4355fs) duplication not provided [RCV003683820] Chr1:186130528..186130529 [GRCh38]
Chr1:186099660..186099661 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8208A>G (p.Gln2736=) single nucleotide variant not provided [RCV003685161] Chr1:186074809 [GRCh38]
Chr1:186043941 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12183G>A (p.Gln4061=) single nucleotide variant not provided [RCV003872416] Chr1:186120099 [GRCh38]
Chr1:186089231 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3336T>A (p.Thr1112=) single nucleotide variant not provided [RCV003674584] Chr1:185990402 [GRCh38]
Chr1:185959534 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6181G>A (p.Val2061Ile) single nucleotide variant not provided [RCV003858148] Chr1:186041013 [GRCh38]
Chr1:186010145 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12737G>A (p.Gly4246Asp) single nucleotide variant not provided [RCV003853267] Chr1:186128124 [GRCh38]
Chr1:186097256 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8714C>T (p.Ser2905Phe) single nucleotide variant not provided [RCV003555849] Chr1:186081321 [GRCh38]
Chr1:186050453 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7427-4T>A single nucleotide variant not provided [RCV003568524] Chr1:186062510 [GRCh38]
Chr1:186031642 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9363+10T>G single nucleotide variant not provided [RCV003866937] Chr1:186087655 [GRCh38]
Chr1:186056787 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1443T>C (p.Ser481=) single nucleotide variant not provided [RCV003685800] Chr1:185928558 [GRCh38]
Chr1:185897690 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13039+19_13039+24del deletion not provided [RCV003840850] Chr1:186130118..186130123 [GRCh38]
Chr1:186099250..186099255 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6951G>A (p.Gln2317=) single nucleotide variant not provided [RCV003677363] Chr1:186055481 [GRCh38]
Chr1:186024613 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3506T>A (p.Val1169Asp) single nucleotide variant not provided [RCV003847437] Chr1:185994815 [GRCh38]
Chr1:185963947 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7513+6G>A single nucleotide variant not provided [RCV003863803] Chr1:186062606 [GRCh38]
Chr1:186031738 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4353A>G (p.Pro1451=) single nucleotide variant not provided [RCV003682850] Chr1:186003722 [GRCh38]
Chr1:185972854 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11255T>G (p.Val3752Gly) single nucleotide variant not provided [RCV003737776] Chr1:186114102 [GRCh38]
Chr1:186083234 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14777_14778del (p.Ile4926fs) deletion not provided [RCV003566926] Chr1:186151623..186151624 [GRCh38]
Chr1:186120755..186120756 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16095T>A (p.Thr5365=) single nucleotide variant not provided [RCV003864020] Chr1:186178567 [GRCh38]
Chr1:186147699 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14796C>T (p.Pro4932=) single nucleotide variant not provided [RCV003705297] Chr1:186151643 [GRCh38]
Chr1:186120775 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1392C>T (p.Val464=) single nucleotide variant not provided [RCV003858588] Chr1:185925153 [GRCh38]
Chr1:185894285 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14767A>G (p.Met4923Val) single nucleotide variant not provided [RCV003728660] Chr1:186151614 [GRCh38]
Chr1:186120746 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2791-9del deletion not provided [RCV003853783] Chr1:185984152 [GRCh38]
Chr1:185953284 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.11523G>A (p.Gly3841=) single nucleotide variant not provided [RCV003727261] Chr1:186115376 [GRCh38]
Chr1:186084508 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9413G>A (p.Arg3138Gln) single nucleotide variant not provided [RCV003728701] Chr1:186087981 [GRCh38]
Chr1:186057113 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6843A>G (p.Glu2281=) single nucleotide variant not provided [RCV003853850] Chr1:186053967 [GRCh38]
Chr1:186023099 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10897G>A (p.Val3633Met) single nucleotide variant not provided [RCV003554613] Chr1:186108505 [GRCh38]
Chr1:186077637 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4805A>G (p.Tyr1602Cys) single nucleotide variant not provided [RCV003854039] Chr1:186015333 [GRCh38]
Chr1:185984465 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11937C>T (p.His3979=) single nucleotide variant not provided [RCV003720093] Chr1:186119279 [GRCh38]
Chr1:186088411 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7126T>C (p.Tyr2376His) single nucleotide variant not provided [RCV003734165] Chr1:186055656 [GRCh38]
Chr1:186024788 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11660G>T (p.Arg3887Ile) single nucleotide variant not provided [RCV003554817] Chr1:186117092 [GRCh38]
Chr1:186086224 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5626-8C>T single nucleotide variant not provided [RCV003683398] Chr1:186023022 [GRCh38]
Chr1:185992154 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12239T>G (p.Val4080Gly) single nucleotide variant not provided [RCV003684503] Chr1:186122960 [GRCh38]
Chr1:186092092 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13209C>T (p.Ser4403=) single nucleotide variant not provided [RCV003871758] Chr1:186130676 [GRCh38]
Chr1:186099808 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1528G>A (p.Ala510Thr) single nucleotide variant not provided [RCV003842633] Chr1:185928643 [GRCh38]
Chr1:185897775 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9774C>T (p.Val3258=) single nucleotide variant not provided [RCV003677875] Chr1:186090804 [GRCh38]
Chr1:186059936 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11276+10C>G single nucleotide variant not provided [RCV003556791] Chr1:186114133 [GRCh38]
Chr1:186083265 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2513C>T (p.Pro838Leu) single nucleotide variant not provided [RCV003683515] Chr1:185977928 [GRCh38]
Chr1:185947060 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3714A>G (p.Ile1238Met) single nucleotide variant not provided [RCV003870028] Chr1:185995023 [GRCh38]
Chr1:185964155 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15477C>T (p.His5159=) single nucleotide variant not provided [RCV003871954] Chr1:186166845 [GRCh38]
Chr1:186135977 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15724G>T (p.Asp5242Tyr) single nucleotide variant not provided [RCV003872039] Chr1:186172041 [GRCh38]
Chr1:186141173 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5346G>C (p.Lys1782Asn) single nucleotide variant not provided [RCV003684769] Chr1:186018228 [GRCh38]
Chr1:185987360 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14373T>C (p.Asn4791=) single nucleotide variant not provided [RCV003737903] Chr1:186145509 [GRCh38]
Chr1:186114641 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16003G>A (p.Gly5335Ser) single nucleotide variant not provided [RCV003721800] Chr1:186178475 [GRCh38]
Chr1:186147607 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9160+16C>T single nucleotide variant not provided [RCV003844363] Chr1:186087346 [GRCh38]
Chr1:186056478 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16784G>A (p.Arg5595Gln) single nucleotide variant not provided [RCV003846546] Chr1:186189754 [GRCh38]
Chr1:186158886 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14249A>G (p.Asn4750Ser) single nucleotide variant not provided [RCV003869104] Chr1:186144686 [GRCh38]
Chr1:186113818 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4796_4798del (p.Lys1599_Gly1600delinsArg) deletion not provided [RCV003684578] Chr1:186015324..186015326 [GRCh38]
Chr1:185984456..185984458 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8462G>T (p.Ser2821Ile) single nucleotide variant not provided [RCV003719822] Chr1:186076599 [GRCh38]
Chr1:186045731 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.647_652del (p.Val216_Gln217del) deletion not provided [RCV003681804] Chr1:185909361..185909366 [GRCh38]
Chr1:185878493..185878498 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5079T>C (p.Gly1693=) single nucleotide variant not provided [RCV003867967] Chr1:186016127 [GRCh38]
Chr1:185985259 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15496A>G (p.Asn5166Asp) single nucleotide variant not provided [RCV003862803] Chr1:186166864 [GRCh38]
Chr1:186135996 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3209-15A>T single nucleotide variant not provided [RCV003864807] Chr1:185990260 [GRCh38]
Chr1:185959392 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2935+18T>C single nucleotide variant not provided [RCV003867000] Chr1:185984331 [GRCh38]
Chr1:185953463 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6082C>T (p.Pro2028Ser) single nucleotide variant not provided [RCV003684869] Chr1:186039781 [GRCh38]
Chr1:186008913 [GRCh37]
Chr1:1q31.1		 uncertain significance
GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1 copy number loss not specified [RCV003987250] Chr1:167994071..187711459 [GRCh37]
Chr1:1q24.2-31.1		 pathogenic
NM_031935.3(HMCN1):c.7488T>G (p.Ser2496Arg) single nucleotide variant not provided [RCV003730712] Chr1:186062575 [GRCh38]
Chr1:186031707 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10279A>G (p.Asn3427Asp) single nucleotide variant not provided [RCV003709464] Chr1:186094358 [GRCh38]
Chr1:186063490 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11277-6T>C single nucleotide variant not provided [RCV003684780] Chr1:186114813 [GRCh38]
Chr1:186083945 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11669A>C (p.Asp3890Ala) single nucleotide variant not provided [RCV003684972] Chr1:186117101 [GRCh38]
Chr1:186086233 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4214G>A (p.Ser1405Asn) single nucleotide variant not provided [RCV003868376] Chr1:186001607 [GRCh38]
Chr1:185970739 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7733G>A (p.Ser2578Asn) single nucleotide variant not provided [RCV003729424] Chr1:186067861 [GRCh38]
Chr1:186036993 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9491C>A (p.Thr3164Lys) single nucleotide variant not provided [RCV003719090] Chr1:186088190 [GRCh38]
Chr1:186057322 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5749+17_5749+18insGA insertion not provided [RCV003683966] Chr1:186023169..186023170 [GRCh38]
Chr1:185992301..185992302 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7372G>A (p.Val2458Ile) single nucleotide variant not provided [RCV003722598] Chr1:186061910 [GRCh38]
Chr1:186031042 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.338A>G (p.Gln113Arg) single nucleotide variant not provided [RCV003841800] Chr1:185846095 [GRCh38]
Chr1:185815227 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6152del (p.Pro2051fs) deletion not provided [RCV003568043] Chr1:186039850 [GRCh38]
Chr1:186008982 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14338C>T (p.Arg4780Trp) single nucleotide variant not provided [RCV003684041] Chr1:186145474 [GRCh38]
Chr1:186114606 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8290+11T>C single nucleotide variant not provided [RCV003704918] Chr1:186074902 [GRCh38]
Chr1:186044034 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10453A>G (p.Ser3485Gly) single nucleotide variant not provided [RCV003706332] Chr1:186095401 [GRCh38]
Chr1:186064533 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2455T>G (p.Tyr819Asp) single nucleotide variant not provided [RCV003824323] Chr1:185977870 [GRCh38]
Chr1:185947002 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15983A>G (p.His5328Arg) single nucleotide variant not provided [RCV003553623] Chr1:186178455 [GRCh38]
Chr1:186147587 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2999T>C (p.Leu1000Ser) single nucleotide variant not provided [RCV003555660] Chr1:185987495 [GRCh38]
Chr1:185956627 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6891C>T (p.Ser2297=) single nucleotide variant not provided [RCV003557461] Chr1:186055421 [GRCh38]
Chr1:186024553 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15069C>T (p.Tyr5023=) single nucleotide variant not provided [RCV003721510] Chr1:186153800 [GRCh38]
Chr1:186122932 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.874C>A (p.Pro292Thr) single nucleotide variant not provided [RCV003721047] Chr1:185911754 [GRCh38]
Chr1:185880886 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9030T>C (p.Asn3010=) single nucleotide variant not provided [RCV003721051] Chr1:186086391 [GRCh38]
Chr1:186055523 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16415-5C>T single nucleotide variant not provided [RCV003844905] Chr1:186187878 [GRCh38]
Chr1:186157010 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.621+16G>A single nucleotide variant not provided [RCV003707921] Chr1:185865879 [GRCh38]
Chr1:185835011 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10508A>G (p.Lys3503Arg) single nucleotide variant not provided [RCV003865455] Chr1:186095456 [GRCh38]
Chr1:186064588 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15101del (p.Ser5034fs) deletion not provided [RCV003682527] Chr1:186153832 [GRCh38]
Chr1:186122964 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14218G>A (p.Glu4740Lys) single nucleotide variant not provided [RCV003721589] Chr1:186144655 [GRCh38]
Chr1:186113787 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9928C>G (p.Leu3310Val) single nucleotide variant not provided [RCV003843531] Chr1:186093174 [GRCh38]
Chr1:186062306 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7853C>A (p.Ser2618Tyr) single nucleotide variant not provided [RCV003568416] Chr1:186067981 [GRCh38]
Chr1:186037113 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9525C>T (p.Ala3175=) single nucleotide variant not provided [RCV003847281] Chr1:186088224 [GRCh38]
Chr1:186057356 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.11785C>T (p.His3929Tyr) single nucleotide variant not provided [RCV003721198] Chr1:186117560 [GRCh38]
Chr1:186086692 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.901-8A>G single nucleotide variant not provided [RCV003728404] Chr1:185922371 [GRCh38]
Chr1:185891503 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4909+6G>A single nucleotide variant not provided [RCV003870248] Chr1:186015443 [GRCh38]
Chr1:185984575 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1337C>A (p.Pro446Gln) single nucleotide variant not provided [RCV003723122] Chr1:185925098 [GRCh38]
Chr1:185894230 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10012+10A>G single nucleotide variant not provided [RCV003723143] Chr1:186093268 [GRCh38]
Chr1:186062400 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8621C>A (p.Ala2874Glu) single nucleotide variant not provided [RCV003857128] Chr1:186081228 [GRCh38]
Chr1:186050360 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16695C>T (p.Pro5565=) single nucleotide variant not provided [RCV003857238] Chr1:186189665 [GRCh38]
Chr1:186158797 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3506-18C>G single nucleotide variant not provided [RCV003845252] Chr1:185994797 [GRCh38]
Chr1:185963929 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10683C>T (p.Thr3561=) single nucleotide variant not provided [RCV003680966] Chr1:186103581 [GRCh38]
Chr1:186072713 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8735C>T (p.Pro2912Leu) single nucleotide variant not provided [RCV003568800] Chr1:186081342 [GRCh38]
Chr1:186050474 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8551G>T (p.Val2851Leu) single nucleotide variant not provided [RCV003720485] Chr1:186078172 [GRCh38]
Chr1:186047304 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3927C>T (p.Gly1309=) single nucleotide variant not provided [RCV003685433] Chr1:186000097 [GRCh38]
Chr1:185969229 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5641C>T (p.Arg1881Ter) single nucleotide variant not provided [RCV003554629] Chr1:186023045 [GRCh38]
Chr1:185992177 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4018G>T (p.Ala1340Ser) single nucleotide variant not provided [RCV003866428] Chr1:186000188 [GRCh38]
Chr1:185969320 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7738G>A (p.Gly2580Ser) single nucleotide variant not provided [RCV003719645]|not specified [RCV004634334] Chr1:186067866 [GRCh38]
Chr1:186036998 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5126A>T (p.Gln1709Leu) single nucleotide variant not provided [RCV003842490] Chr1:186016174 [GRCh38]
Chr1:185985306 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8266T>C (p.Leu2756=) single nucleotide variant not provided [RCV003567299] Chr1:186074867 [GRCh38]
Chr1:186043999 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7910A>G (p.Gln2637Arg) single nucleotide variant not provided [RCV003681503] Chr1:186069693 [GRCh38]
Chr1:186038825 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3365C>T (p.Pro1122Leu) single nucleotide variant not provided [RCV003866436] Chr1:185990431 [GRCh38]
Chr1:185959563 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1322G>A (p.Gly441Glu) single nucleotide variant not provided [RCV003541953] Chr1:185925083 [GRCh38]
Chr1:185894215 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13455G>A (p.Arg4485=) single nucleotide variant not provided [RCV003728961] Chr1:186136810 [GRCh38]
Chr1:186105942 [GRCh37]
Chr1:1q31.1		 benign
NM_031935.3(HMCN1):c.11488A>T (p.Ile3830Leu) single nucleotide variant not provided [RCV003683681] Chr1:186115341 [GRCh38]
Chr1:186084473 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7810C>G (p.Pro2604Ala) single nucleotide variant not provided [RCV003677888] Chr1:186067938 [GRCh38]
Chr1:186037070 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11212G>A (p.Gly3738Ser) single nucleotide variant not provided [RCV003718620] Chr1:186114059 [GRCh38]
Chr1:186083191 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7464T>C (p.Asp2488=) single nucleotide variant not provided [RCV003566804] Chr1:186062551 [GRCh38]
Chr1:186031683 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2922T>C (p.Ser974=) single nucleotide variant not provided [RCV003566834] Chr1:185984300 [GRCh38]
Chr1:185953432 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10361C>T (p.Ser3454Phe) single nucleotide variant not provided [RCV003708390] Chr1:186095309 [GRCh38]
Chr1:186064441 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11463T>A (p.Thr3821=) single nucleotide variant not provided [RCV003818955] Chr1:186115316 [GRCh38]
Chr1:186084448 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6229G>T (p.Asp2077Tyr) single nucleotide variant not provided [RCV003563128] Chr1:186041061 [GRCh38]
Chr1:186010193 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9949T>C (p.Tyr3317His) single nucleotide variant not provided [RCV003682142] Chr1:186093195 [GRCh38]
Chr1:186062327 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7178C>T (p.Pro2393Leu) single nucleotide variant not provided [RCV003682208] Chr1:186057267 [GRCh38]
Chr1:186026399 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3209-14T>C single nucleotide variant not provided [RCV003865583] Chr1:185990261 [GRCh38]
Chr1:185959393 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2532C>T (p.Ile844=) single nucleotide variant not provided [RCV003857841] Chr1:185977947 [GRCh38]
Chr1:185947079 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16549C>T (p.Leu5517Phe) single nucleotide variant not provided [RCV003853309] Chr1:186189519 [GRCh38]
Chr1:186158651 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8300G>A (p.Ser2767Asn) single nucleotide variant not provided [RCV003819235] Chr1:186076437 [GRCh38]
Chr1:186045569 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9047-12A>C single nucleotide variant not provided [RCV003678115] Chr1:186087205 [GRCh38]
Chr1:186056337 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4859T>C (p.Val1620Ala) single nucleotide variant not provided [RCV003708871] Chr1:186015387 [GRCh38]
Chr1:185984519 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11867C>T (p.Ala3956Val) single nucleotide variant not provided [RCV003840618] Chr1:186119209 [GRCh38]
Chr1:186088341 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7698T>C (p.Asn2566=) single nucleotide variant not provided [RCV003676770] Chr1:186065422 [GRCh38]
Chr1:186034554 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.4965T>G (p.Ile1655Met) single nucleotide variant not provided [RCV003706101] Chr1:186016013 [GRCh38]
Chr1:185985145 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2205G>C (p.Trp735Cys) single nucleotide variant not provided [RCV003711806] Chr1:185965908 [GRCh38]
Chr1:185935040 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16094C>T (p.Thr5365Ile) single nucleotide variant not provided [RCV003705109] Chr1:186178566 [GRCh38]
Chr1:186147698 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6526G>A (p.Ala2176Thr) single nucleotide variant not provided [RCV003859431] Chr1:186048788 [GRCh38]
Chr1:186017920 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.446A>T (p.Asp149Val) single nucleotide variant not provided [RCV003566194] Chr1:185864576 [GRCh38]
Chr1:185833708 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15936C>T (p.Pro5312=) single nucleotide variant not provided [RCV003821917] Chr1:186174635 [GRCh38]
Chr1:186143767 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9047-5T>C single nucleotide variant not provided [RCV003703929] Chr1:186087212 [GRCh38]
Chr1:186056344 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1913A>G (p.Tyr638Cys) single nucleotide variant not provided [RCV003819683] Chr1:185962602 [GRCh38]
Chr1:185931734 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8581T>C (p.Tyr2861His) single nucleotide variant not provided [RCV003678676] Chr1:186078202 [GRCh38]
Chr1:186047334 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2652G>C (p.Val884=) single nucleotide variant not provided [RCV003567749] Chr1:185981063 [GRCh38]
Chr1:185950195 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.480C>T (p.Ile160=) single nucleotide variant not provided [RCV003670769] Chr1:185864610 [GRCh38]
Chr1:185833742 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14438-3C>T single nucleotide variant not provided [RCV003858264] Chr1:186145750 [GRCh38]
Chr1:186114882 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7947G>A (p.Thr2649=) single nucleotide variant not provided [RCV003707575] Chr1:186069730 [GRCh38]
Chr1:186038862 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2104C>T (p.Pro702Ser) single nucleotide variant not provided [RCV003862991] Chr1:185965807 [GRCh38]
Chr1:185934939 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14896+7G>A single nucleotide variant not provided [RCV003734025] Chr1:186151750 [GRCh38]
Chr1:186120882 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15524T>G (p.Val5175Gly) single nucleotide variant not provided [RCV003858275] Chr1:186166892 [GRCh38]
Chr1:186136024 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9341T>G (p.Met3114Arg) single nucleotide variant not provided [RCV003712361] Chr1:186087623 [GRCh38]
Chr1:186056755 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9745G>C (p.Gly3249Arg) single nucleotide variant not provided [RCV003712363] Chr1:186090775 [GRCh38]
Chr1:186059907 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5061T>G (p.Asn1687Lys) single nucleotide variant not provided [RCV003861627] Chr1:186016109 [GRCh38]
Chr1:185985241 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15575-1G>T single nucleotide variant not provided [RCV003707603] Chr1:186171336 [GRCh38]
Chr1:186140468 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6700+10C>T single nucleotide variant not provided [RCV003846632] Chr1:186053084 [GRCh38]
Chr1:186022216 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15272A>G (p.Gln5091Arg) single nucleotide variant not provided [RCV003818527] Chr1:186165126 [GRCh38]
Chr1:186134258 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1803C>T (p.Ala601=) single nucleotide variant not provided [RCV003857259] Chr1:185933799 [GRCh38]
Chr1:185902931 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3576T>C (p.Cys1192=) single nucleotide variant not provided [RCV003821146] Chr1:185994885 [GRCh38]
Chr1:185964017 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5750-2A>G single nucleotide variant not provided [RCV003552128] Chr1:186037932 [GRCh38]
Chr1:186007064 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9286A>G (p.Asn3096Asp) single nucleotide variant not provided [RCV003568008] Chr1:186087568 [GRCh38]
Chr1:186056700 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3917A>G (p.Glu1306Gly) single nucleotide variant not provided [RCV003707795] Chr1:186000087 [GRCh38]
Chr1:185969219 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.371G>A (p.Gly124Glu) single nucleotide variant not provided [RCV003733038] Chr1:185864501 [GRCh38]
Chr1:185833633 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11706G>A (p.Glu3902=) single nucleotide variant not provided [RCV003675039] Chr1:186117481 [GRCh38]
Chr1:186086613 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.12102C>T (p.Asn4034=) single nucleotide variant not provided [RCV003707722] Chr1:186120018 [GRCh38]
Chr1:186089150 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.5318del (p.Gln1773fs) deletion not provided [RCV003709619] Chr1:186018200 [GRCh38]
Chr1:185987332 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11384G>A (p.Arg3795Gln) single nucleotide variant not provided [RCV003727387] Chr1:186114926 [GRCh38]
Chr1:186084058 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2480G>A (p.Arg827Gln) single nucleotide variant not provided [RCV003859969] Chr1:185977895 [GRCh38]
Chr1:185947027 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8787+20T>C single nucleotide variant not provided [RCV003844904] Chr1:186081414 [GRCh38]
Chr1:186050546 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6251T>A (p.Val2084Glu) single nucleotide variant not provided [RCV003861430] Chr1:186041083 [GRCh38]
Chr1:186010215 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1021+15A>T single nucleotide variant not provided [RCV003845019] Chr1:185922514 [GRCh38]
Chr1:185891646 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.2489A>G (p.Asp830Gly) single nucleotide variant not provided [RCV003861370] Chr1:185977904 [GRCh38]
Chr1:185947036 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.6850C>G (p.Leu2284Val) single nucleotide variant not provided [RCV003680701] Chr1:186053974 [GRCh38]
Chr1:186023106 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2372-20T>C single nucleotide variant not provided [RCV003848208] Chr1:185977767 [GRCh38]
Chr1:185946899 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16779A>G (p.Thr5593=) single nucleotide variant not provided [RCV003841143] Chr1:186189749 [GRCh38]
Chr1:186158881 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14978A>G (p.Tyr4993Cys) single nucleotide variant not provided [RCV003841081] Chr1:186152831 [GRCh38]
Chr1:186121963 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14897-11G>A single nucleotide variant not provided [RCV003820036] Chr1:186152739 [GRCh38]
Chr1:186121871 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.10482C>G (p.Leu3494=) single nucleotide variant not provided [RCV003842671] Chr1:186095430 [GRCh38]
Chr1:186064562 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.1804G>A (p.Ala602Thr) single nucleotide variant not provided [RCV003730043] Chr1:185933800 [GRCh38]
Chr1:185902932 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4521A>G (p.Gly1507=) single nucleotide variant not provided [RCV003843790] Chr1:186007173 [GRCh38]
Chr1:185976305 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.16294+4A>T single nucleotide variant not provided [RCV003567203] Chr1:186178770 [GRCh38]
Chr1:186147902 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1411G>A (p.Gly471Arg) single nucleotide variant not provided [RCV003553622] Chr1:185925172 [GRCh38]
Chr1:185894304 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16542-20G>T single nucleotide variant not provided [RCV003822682] Chr1:186189492 [GRCh38]
Chr1:186158624 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15574+16C>A single nucleotide variant not provided [RCV003857427] Chr1:186166958 [GRCh38]
Chr1:186136090 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3598C>T (p.Pro1200Ser) single nucleotide variant not provided [RCV003844009]|not specified [RCV004366937] Chr1:185994907 [GRCh38]
Chr1:185964039 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15775C>G (p.Pro5259Ala) single nucleotide variant not provided [RCV003844024] Chr1:186172092 [GRCh38]
Chr1:186141224 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14456G>C (p.Ser4819Thr) single nucleotide variant not provided [RCV003862282] Chr1:186145771 [GRCh38]
Chr1:186114903 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8013A>G (p.Lys2671=) single nucleotide variant not provided [RCV003552251] Chr1:186070631 [GRCh38]
Chr1:186039763 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.14940C>T (p.Ser4980=) single nucleotide variant not provided [RCV003841316] Chr1:186152793 [GRCh38]
Chr1:186121925 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.8843C>T (p.Thr2948Ile) single nucleotide variant not provided [RCV003550881] Chr1:186082920 [GRCh38]
Chr1:186052052 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4839A>G (p.Ser1613=) single nucleotide variant not provided [RCV003821651] Chr1:186015367 [GRCh38]
Chr1:185984499 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.3045C>G (p.Ser1015=) single nucleotide variant not provided [RCV003708377] Chr1:185987541 [GRCh38]
Chr1:185956673 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6701-12A>G single nucleotide variant not provided [RCV003711086] Chr1:186053813 [GRCh38]
Chr1:186022945 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13677C>T (p.Pro4559=) single nucleotide variant HMCN1-related disorder [RCV003969323] Chr1:186137592 [GRCh38]
Chr1:186106724 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6292C>A (p.Leu2098Ile) single nucleotide variant Age related macular degeneration 1 [RCV003989463] Chr1:186041124 [GRCh38]
Chr1:186010256 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9510A>G (p.Thr3170=) single nucleotide variant HMCN1-related disorder [RCV003981526] Chr1:186088209 [GRCh38]
Chr1:186057341 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.9446-30TTTG[6] microsatellite HMCN1-related disorder [RCV003961363] Chr1:186088114..186088115 [GRCh38]
Chr1:186057246..186057247 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15574+10T>A single nucleotide variant HMCN1-related disorder [RCV003967035] Chr1:186166952 [GRCh38]
Chr1:186136084 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.7427-23TTG[4] microsatellite HMCN1-related disorder [RCV003937029] Chr1:186062491..186062493 [GRCh38]
Chr1:186031623..186031625 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.-4_-3del deletion HMCN1-related disorder [RCV003959260] Chr1:185734775..185734776 [GRCh38]
Chr1:185703907..185703908 [GRCh37]
Chr1:1q25.3		 likely benign
NM_031935.3(HMCN1):c.499-8A>G single nucleotide variant HMCN1-related disorder [RCV003956932] Chr1:185865733 [GRCh38]
Chr1:185834865 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.15574+9A>T single nucleotide variant HMCN1-related disorder [RCV003969753] Chr1:186166951 [GRCh38]
Chr1:186136083 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.6359C>T (p.Ala2120Val) single nucleotide variant not specified [RCV004399631] Chr1:186045742 [GRCh38]
Chr1:186014874 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9550G>A (p.Ala3184Thr) single nucleotide variant not specified [RCV004399638] Chr1:186088249 [GRCh38]
Chr1:186057381 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.964G>A (p.Gly322Ser) single nucleotide variant not specified [RCV004399639] Chr1:185922442 [GRCh38]
Chr1:185891574 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.965G>T (p.Gly322Val) single nucleotide variant not specified [RCV004399640] Chr1:185922443 [GRCh38]
Chr1:185891575 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15539G>C (p.Gly5180Ala) single nucleotide variant not specified [RCV004399611] Chr1:186166907 [GRCh38]
Chr1:186136039 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2456A>G (p.Tyr819Cys) single nucleotide variant not specified [RCV004399619] Chr1:185977871 [GRCh38]
Chr1:185947003 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2785G>T (p.Ala929Ser) single nucleotide variant not specified [RCV004399621] Chr1:185982384 [GRCh38]
Chr1:185951516 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.305A>G (p.Lys102Arg) single nucleotide variant not specified [RCV004399622] Chr1:185846062 [GRCh38]
Chr1:185815194 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3178G>A (p.Ala1060Thr) single nucleotide variant not specified [RCV004399623] Chr1:185989617 [GRCh38]
Chr1:185958749 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3662A>G (p.Asn1221Ser) single nucleotide variant not specified [RCV004399624] Chr1:185994971 [GRCh38]
Chr1:185964103 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5160A>C (p.Glu1720Asp) single nucleotide variant not specified [RCV004399627] Chr1:186016208 [GRCh38]
Chr1:185985340 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.528T>A (p.Asp176Glu) single nucleotide variant not specified [RCV004399628] Chr1:185865770 [GRCh38]
Chr1:185834902 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5420C>A (p.Ala1807Glu) single nucleotide variant not specified [RCV004399629] Chr1:186018302 [GRCh38]
Chr1:185987434 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.587A>G (p.Gln196Arg) single nucleotide variant not specified [RCV004399630] Chr1:185865829 [GRCh38]
Chr1:185834961 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10766C>T (p.Ala3589Val) single nucleotide variant not specified [RCV004399597] Chr1:186103664 [GRCh38]
Chr1:186072796 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10805C>T (p.Ser3602Phe) single nucleotide variant not specified [RCV004399598] Chr1:186106918 [GRCh38]
Chr1:186076050 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10855C>A (p.Pro3619Thr) single nucleotide variant not specified [RCV004399599] Chr1:186108463 [GRCh38]
Chr1:186077595 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10923G>T (p.Leu3641Phe) single nucleotide variant not specified [RCV004399600] Chr1:186108531 [GRCh38]
Chr1:186077663 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10970G>C (p.Arg3657Thr) single nucleotide variant not specified [RCV004399601] Chr1:186108578 [GRCh38]
Chr1:186077710 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11862A>G (p.Ile3954Met) single nucleotide variant not specified [RCV004399602] Chr1:186119204 [GRCh38]
Chr1:186088336 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12068A>G (p.Lys4023Arg) single nucleotide variant not specified [RCV004399603] Chr1:186119856 [GRCh38]
Chr1:186088988 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10030G>A (p.Gly3344Ser) single nucleotide variant not specified [RCV004399593] Chr1:186093503 [GRCh38]
Chr1:186062635 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10261G>T (p.Val3421Leu) single nucleotide variant not specified [RCV004399594] Chr1:186094340 [GRCh38]
Chr1:186063472 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10474C>G (p.Gln3492Glu) single nucleotide variant not specified [RCV004399595] Chr1:186095422 [GRCh38]
Chr1:186064554 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10530T>G (p.Asn3510Lys) single nucleotide variant not specified [RCV004399596] Chr1:186095478 [GRCh38]
Chr1:186064610 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12497A>G (p.His4166Arg) single nucleotide variant not specified [RCV004399604] Chr1:186123218 [GRCh38]
Chr1:186092350 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16397A>G (p.Asn5466Ser) single nucleotide variant not specified [RCV004399613] Chr1:186182270 [GRCh38]
Chr1:186151402 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2011G>A (p.Ala671Thr) single nucleotide variant not specified [RCV004399615] Chr1:185963808 [GRCh38]
Chr1:185932940 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9296T>C (p.Met3099Thr) single nucleotide variant not specified [RCV004399637] Chr1:186087578 [GRCh38]
Chr1:186056710 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.12721G>C (p.Ala4241Pro) single nucleotide variant not specified [RCV004399606] Chr1:186128108 [GRCh38]
Chr1:186097240 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.136T>A (p.Phe46Ile) single nucleotide variant not specified [RCV004399607] Chr1:185734915 [GRCh38]
Chr1:185704047 [GRCh37]
Chr1:1q25.3		 uncertain significance
NM_031935.3(HMCN1):c.14831C>T (p.Ala4944Val) single nucleotide variant not specified [RCV004399610] Chr1:186151678 [GRCh38]
Chr1:186120810 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.4472G>A (p.Gly1491Asp) single nucleotide variant not specified [RCV004399625] Chr1:186003841 [GRCh38]
Chr1:185972973 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.5077G>A (p.Gly1693Ser) single nucleotide variant not specified [RCV004399626] Chr1:186016125 [GRCh38]
Chr1:185985257 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2021A>G (p.Lys674Arg) single nucleotide variant not specified [RCV004399616] Chr1:185963818 [GRCh38]
Chr1:185932950 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2156C>A (p.Thr719Asn) single nucleotide variant not specified [RCV004399617] Chr1:185965859 [GRCh38]
Chr1:185934991 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2450A>T (p.Gln817Leu) single nucleotide variant not specified [RCV004399618] Chr1:185977865 [GRCh38]
Chr1:185946997 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.745G>T (p.Val249Leu) single nucleotide variant not specified [RCV004399632] Chr1:185909460 [GRCh38]
Chr1:185878592 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7582A>G (p.Ile2528Val) single nucleotide variant not specified [RCV004399633] Chr1:186065306 [GRCh38]
Chr1:186034438 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.803T>C (p.Ile268Thr) single nucleotide variant not specified [RCV004399634] Chr1:185911683 [GRCh38]
Chr1:185880815 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.8271T>A (p.Asp2757Glu) single nucleotide variant not specified [RCV004399635] Chr1:186074872 [GRCh38]
Chr1:186044004 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9028A>G (p.Asn3010Asp) single nucleotide variant not specified [RCV004399636] Chr1:186086389 [GRCh38]
Chr1:186055521 [GRCh37]
Chr1:1q31.1		 uncertain significance
NC_000001.10:g.(?_186114515)_(186159010_?)dup duplication not provided [RCV004579187] Chr1:186114515..186159010 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16135A>G (p.Arg5379Gly) single nucleotide variant not specified [RCV004632849] Chr1:186178607 [GRCh38]
Chr1:186147739 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.761C>T (p.Pro254Leu) single nucleotide variant not specified [RCV004632850] Chr1:185909476 [GRCh38]
Chr1:185878608 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13220A>G (p.Tyr4407Cys) single nucleotide variant not specified [RCV004632851] Chr1:186130687 [GRCh38]
Chr1:186099819 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11266A>G (p.Asn3756Asp) single nucleotide variant not specified [RCV004632852] Chr1:186114113 [GRCh38]
Chr1:186083245 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13288C>T (p.Arg4430Cys) single nucleotide variant not specified [RCV004632857] Chr1:186132385 [GRCh38]
Chr1:186101517 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.560A>T (p.Glu187Val) single nucleotide variant not specified [RCV004632840] Chr1:185865802 [GRCh38]
Chr1:185834934 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14725C>T (p.Arg4909Cys) single nucleotide variant not specified [RCV004632841] Chr1:186151316 [GRCh38]
Chr1:186120448 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.3649C>T (p.His1217Tyr) single nucleotide variant not specified [RCV004632854] Chr1:185994958 [GRCh38]
Chr1:185964090 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11321A>G (p.His3774Arg) single nucleotide variant not specified [RCV004632842] Chr1:186114863 [GRCh38]
Chr1:186083995 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1546G>C (p.Val516Leu) single nucleotide variant not specified [RCV004632855] Chr1:185928661 [GRCh38]
Chr1:185897793 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2571A>C (p.Leu857Phe) single nucleotide variant not specified [RCV004632856] Chr1:185980982 [GRCh38]
Chr1:185950114 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.1187C>T (p.Pro396Leu) single nucleotide variant not specified [RCV004632858] Chr1:185923555 [GRCh38]
Chr1:185892687 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.2357C>T (p.Thr786Ile) single nucleotide variant not specified [RCV004632859] Chr1:185970479 [GRCh38]
Chr1:185939611 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15613C>T (p.Arg5205Cys) single nucleotide variant not specified [RCV004632843] Chr1:186171375 [GRCh38]
Chr1:186140507 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.7958G>T (p.Gly2653Val) single nucleotide variant not specified [RCV004632844] Chr1:186069741 [GRCh38]
Chr1:186038873 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.11881C>T (p.His3961Tyr) single nucleotide variant not specified [RCV004632845] Chr1:186119223 [GRCh38]
Chr1:186088355 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.9442T>C (p.Tyr3148His) single nucleotide variant not specified [RCV004632846] Chr1:186088010 [GRCh38]
Chr1:186057142 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.14270A>G (p.His4757Arg) single nucleotide variant not specified [RCV004632847] Chr1:186145406 [GRCh38]
Chr1:186114538 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.15715T>C (p.Cys5239Arg) single nucleotide variant not specified [RCV004632848] Chr1:186172032 [GRCh38]
Chr1:186141164 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.16545C>G (p.Phe5515Leu) single nucleotide variant not specified [RCV004626218] Chr1:186189515 [GRCh38]
Chr1:186158647 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.13960A>G (p.Thr4654Ala) single nucleotide variant not specified [RCV004626219] Chr1:186144208 [GRCh38]
Chr1:186113340 [GRCh37]
Chr1:1q31.1		 likely benign
NM_031935.3(HMCN1):c.13784G>T (p.Trp4595Leu) single nucleotide variant not specified [RCV004626220] Chr1:186137832 [GRCh38]
Chr1:186106964 [GRCh37]
Chr1:1q31.1		 uncertain significance
NM_031935.3(HMCN1):c.10163A>G (p.His3388Arg) single nucleotide variant HMCN1-related disorder [RCV004753996] Chr1:186093636 [GRCh38]
Chr1:186062768 [GRCh37]
Chr1:1q31.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:972
Count of miRNA genes:472
Interacting mature miRNAs:514
Transcripts:ENST00000271588, ENST00000367492, ENST00000414277, ENST00000475585, ENST00000485744, ENST00000493413
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597076118GWAS1172192_Hlate-onset Alzheimers disease QTL GWAS1172192 (human)0.000001late-onset Alzheimers disease1185780742185780743Human
597162966GWAS1259040_Hglycerate measurement QTL GWAS1259040 (human)0.000001glycerate measurement1185813553185813554Human
597303067GWAS1399141_Hbody height QTL GWAS1399141 (human)2e-08body height (VT:0001253)body height (CMO:0000106)1185942565185942566Human
597141141GWAS1237215_Hchronic obstructive pulmonary disease QTL GWAS1237215 (human)1e-09lung integrity trait (VT:0010906)1186158260186158261Human
597332377GWAS1428451_HS-6-hydroxywarfarin measurement QTL GWAS1428451 (human)0.000007S-6-hydroxywarfarin measurement1186076294186076295Human
597355998GWAS1452072_Hbody height QTL GWAS1452072 (human)1e-37body height (VT:0001253)body height (CMO:0000106)1186052900186052901Human
597033618GWAS1129692_Hbody height QTL GWAS1129692 (human)2e-09body height (VT:0001253)body height (CMO:0000106)1186144720186144721Human
597355999GWAS1452073_Hbody height QTL GWAS1452073 (human)3e-37body height (VT:0001253)body height (CMO:0000106)1186144720186144721Human
597303068GWAS1399142_Hbody height QTL GWAS1399142 (human)5e-09body height (VT:0001253)body height (CMO:0000106)1186151007186151008Human
597355997GWAS1452071_Hbody height QTL GWAS1452071 (human)9e-18body height (VT:0001253)body height (CMO:0000106)1185989605185989606Human
597301907GWAS1397981_Hbody height QTL GWAS1397981 (human)5e-11body height (VT:0001253)body height (CMO:0000106)1185999491185999492Human
597355348GWAS1451422_Hbody height QTL GWAS1451422 (human)3e-10body height (VT:0001253)body height (CMO:0000106)1185886704185886705Human
597355349GWAS1451423_Hbody height QTL GWAS1451423 (human)2e-09body height (VT:0001253)body height (CMO:0000106)1186119940186119941Human
406896658GWAS545634_HQRS duration QTL GWAS545634 (human)0.000009QRS durationQRS duration (CMO:0000267)1185825751185825752Human
597073861GWAS1169935_Hlobe attachment QTL GWAS1169935 (human)0.000005lobe attachmentear measurement (CMO:0002667)1186075715186075716Human
597316943GWAS1413017_Hvaginal microbiome measurement QTL GWAS1413017 (human)0.000001vaginal microbiome measurement1186164158186164159Human
597061578GWAS1157652_Hvital capacity QTL GWAS1157652 (human)4e-16vital capacity1186122944186122945Human
597278599GWAS1374673_Htestosterone measurement QTL GWAS1374673 (human)4e-15testosterone measurementserum testosterone level (CMO:0000568)1185912459185912460Human
597314436GWAS1410510_Hvaginal microbiome measurement QTL GWAS1410510 (human)0.000009vaginal microbiome measurement1186164158186164159Human
597326650GWAS1422724_HFEV/FVC ratio QTL GWAS1422724 (human)6e-27FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)1186144720186144721Human
597326459GWAS1422533_HFEV/FVC ratio QTL GWAS1422533 (human)2e-12FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)1185956670185956671Human
597061170GWAS1157244_HFEV/FVC ratio QTL GWAS1157244 (human)3e-09FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)1186033958186033959Human
597133234GWAS1229308_Hbody height QTL GWAS1229308 (human)1e-11body height (VT:0001253)body height (CMO:0000106)1185989605185989606Human
597061171GWAS1157245_HFEV/FVC ratio QTL GWAS1157245 (human)3e-23FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)1186144720186144721Human
597159984GWAS1256058_Hchenodeoxycholate measurement QTL GWAS1256058 (human)0.000003chenodeoxycholate measurement1186180103186180104Human
407059051GWAS708027_Hvital capacity QTL GWAS708027 (human)2e-13vital capacity1186121238186121239Human
597327339GWAS1423413_Hvital capacity QTL GWAS1423413 (human)4e-15vital capacity1186129294186129295Human
597329135GWAS1425209_Hcognitive domain measurement, breast cancer QTL GWAS1425209 (human)2e-08cognitive domain measurement, breast cancer1186065124186065125Human
597277103GWAS1373177_Htestosterone measurement QTL GWAS1373177 (human)3e-18testosterone measurementserum testosterone level (CMO:0000568)1185912459185912460Human
407105278GWAS754254_HFEV/FVC ratio QTL GWAS754254 (human)3e-19FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)1186144720186144721Human
407105277GWAS754253_HFEV/FVC ratio QTL GWAS754253 (human)4e-11FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)1186121238186121239Human

Markers in Region
D1S191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,821,622 - 185,821,860UniSTSGRCh37
GRCh371185,821,687 - 185,821,851UniSTSGRCh37
Build 361184,088,310 - 184,088,474RGDNCBI36
Celera1158,932,389 - 158,932,551RGD
Celera1158,932,324 - 158,932,560UniSTS
Cytogenetic Map1q25.3-q31.1UniSTS
HuRef1157,056,450 - 157,056,612UniSTS
HuRef1157,056,385 - 157,056,621UniSTS
Marshfield Genetic Map1200.96RGD
Genethon Genetic Map1205.1UniSTS
TNG Radiation Hybrid Map187987.0UniSTS
deCODE Assembly Map1186.76UniSTS
GeneMap99-GB4 RH Map1639.32UniSTS
Whitehead-RH Map1797.5UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11584.2UniSTS
D1S413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371198,620,404 - 198,620,651UniSTSGRCh37
GRCh371198,620,398 - 198,620,667UniSTSGRCh37
Build 361196,887,027 - 196,887,274RGDNCBI36
Celera1171,742,954 - 171,743,223UniSTS
Celera1171,742,960 - 171,743,207RGD
Cytogenetic Map1q25.3-q31.1UniSTS
Cytogenetic Map1q31-q32UniSTS
HuRef1169,787,631 - 169,787,898UniSTS
HuRef1169,787,637 - 169,787,882UniSTS
Marshfield Genetic Map1212.44UniSTS
Marshfield Genetic Map1212.44RGD
Genethon Genetic Map1216.5UniSTS
deCODE Assembly Map1194.98UniSTS
GeneMap99-GB4 RH Map1660.6UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11646.2UniSTS
GeneMap99-G3 RH Map17650.0UniSTS
D1S444  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,756,247 - 185,756,423UniSTSGRCh37
Build 361184,022,870 - 184,023,046RGDNCBI36
Celera1158,866,949 - 158,867,125RGD
Cytogenetic Map1q25.3-q31.1UniSTS
HuRef1156,991,054 - 156,991,230UniSTS
Marshfield Genetic Map1200.96RGD
Marshfield Genetic Map1200.96UniSTS
Genethon Genetic Map1205.1UniSTS
deCODE Assembly Map1186.75UniSTS
Whitehead-RH Map1797.5UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S2848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,834,665 - 185,834,785UniSTSGRCh37
Build 361184,101,288 - 184,101,408RGDNCBI36
Celera1158,945,361 - 158,945,479RGD
Cytogenetic Map1q25.3-q31.1UniSTS
HuRef1157,069,422 - 157,069,540UniSTS
Marshfield Genetic Map1200.96RGD
Marshfield Genetic Map1200.96UniSTS
Genethon Genetic Map1205.1UniSTS
TNG Radiation Hybrid Map188011.0UniSTS
deCODE Assembly Map1186.76UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,779,705 - 185,779,906UniSTSGRCh37
Build 361184,046,328 - 184,046,529RGDNCBI36
Celera1158,890,406 - 158,890,607RGD
Cytogenetic Map1q25.3-q31.1UniSTS
HuRef1157,014,468 - 157,014,669UniSTS
Marshfield Genetic Map1200.96UniSTS
Marshfield Genetic Map1200.96RGD
Genethon Genetic Map1205.1UniSTS
deCODE Assembly Map1186.76UniSTS
Whitehead-RH Map1797.5UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11573.4UniSTS
D1S1194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,989,319 - 185,989,435UniSTSGRCh37
Celera1159,100,006 - 159,100,122UniSTS
Cytogenetic Map1q25.3-q31.1UniSTS
HuRef1157,224,075 - 157,224,191UniSTS
Marshfield Genetic Map1200.96RGD
Marshfield Genetic Map1200.96UniSTS
deCODE Assembly Map1186.76UniSTS
D1S466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371182,303,632 - 182,303,800UniSTSGRCh37
GRCh371182,303,599 - 182,303,809UniSTSGRCh37
Build 361180,570,255 - 180,570,423RGDNCBI36
Celera8130,236,304 - 130,237,600UniSTS
Celera1155,414,746 - 155,414,910RGD
Celera1155,414,713 - 155,414,919UniSTS
Cytogenetic Map1q25.3-q31.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map8q24UniSTS
HuRef1153,538,876 - 153,539,074UniSTS
HuRef1153,538,909 - 153,539,065UniSTS
HuRef350,367,626 - 50,368,054UniSTS
Marshfield Genetic Map1198.3UniSTS
Marshfield Genetic Map1198.3RGD
Genethon Genetic Map1203.0UniSTS
TNG Radiation Hybrid Map186222.0UniSTS
deCODE Assembly Map1183.53UniSTS
GeneMap99-GB4 RH Map1634.34UniSTS
Whitehead-RH Map1792.5UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11563.6UniSTS
GeneMap99-G3 RH Map17137.0UniSTS
D1S2165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,964,348 - 185,964,497UniSTSGRCh37
Build 361184,230,971 - 184,231,120RGDNCBI36
Celera1159,075,034 - 159,075,183RGD
Cytogenetic Map1q25.3-q31.1UniSTS
HuRef1157,199,105 - 157,199,254UniSTS
Whitehead-RH Map1797.4UniSTS
Whitehead-YAC Contig Map1 UniSTS
SHGC-3550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,756,216 - 185,756,331UniSTSGRCh37
Build 361184,022,839 - 184,022,954RGDNCBI36
Celera1158,866,918 - 158,867,033RGD
Cytogenetic Map1q25.3-q31.1UniSTS
HuRef1156,991,023 - 156,991,138UniSTS
SHGC-1041  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,779,686 - 185,779,854UniSTSGRCh37
Build 361184,046,309 - 184,046,477RGDNCBI36
Celera1158,890,387 - 158,890,555RGD
Cytogenetic Map1q25.3-q31.1UniSTS
HuRef1157,014,449 - 157,014,617UniSTS
TNG Radiation Hybrid Map187973.0UniSTS
SHGC-106463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,890,148 - 185,890,476UniSTSGRCh37
Build 361184,156,771 - 184,157,099RGDNCBI36
Celera1159,000,838 - 159,001,166RGD
Cytogenetic Map1q25.3-q31.1UniSTS
HuRef1157,124,903 - 157,125,231UniSTS
TNG Radiation Hybrid Map188041.0UniSTS
SHGC-106819  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371186,094,488 - 186,094,784UniSTSGRCh37
Build 361184,361,111 - 184,361,407RGDNCBI36
Celera1159,205,172 - 159,205,468RGD
Cytogenetic Map1q25.3-q31.1UniSTS
HuRef1157,329,131 - 157,329,429UniSTS
TNG Radiation Hybrid Map189134.0UniSTS
SHGC-58126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,790,753 - 185,790,953UniSTSGRCh37
Build 361184,057,376 - 184,057,576RGDNCBI36
Celera1158,901,454 - 158,901,654RGD
Cytogenetic Map1q25.3-q31.1UniSTS
HuRef1157,025,516 - 157,025,716UniSTS
TNG Radiation Hybrid Map187976.0UniSTS
AL009939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,928,120 - 185,928,255UniSTSGRCh37
Build 361184,194,743 - 184,194,878RGDNCBI36
Celera1159,038,811 - 159,038,946RGD
Cytogenetic Map1q25.3-q31.1UniSTS
HuRef1157,162,876 - 157,163,011UniSTS
D1S191  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q25.3-q31.1UniSTS
Marshfield Genetic Map1200.96UniSTS
Genethon Genetic Map1205.1UniSTS
TNG Radiation Hybrid Map187994.0UniSTS
deCODE Assembly Map1186.76UniSTS
Whitehead-RH Map1797.5UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11573.4UniSTS


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
visual system
1204 2384 2788 2244 4945 1720 2297 5 618 1437 460 2266 6738 5959 51 3704 828 1713 1569 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF156100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ306906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL118512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX928748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS161060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY966313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000271588   ⟹   ENSP00000271588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,734,391 - 186,190,949 (+)Ensembl
Ensembl Acc Id: ENST00000414277   ⟹   ENSP00000406205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,171,387 - 186,189,665 (+)Ensembl
Ensembl Acc Id: ENST00000475585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,153,826 - 186,172,118 (+)Ensembl
Ensembl Acc Id: ENST00000485744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,957,069 - 185,993,437 (+)Ensembl
Ensembl Acc Id: ENST00000493413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1185,963,808 - 185,978,145 (+)Ensembl
RefSeq Acc Id: NM_031935   ⟹   NP_114141
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,734,391 - 186,190,949 (+)NCBI
GRCh371185,703,683 - 186,160,085 (+)ENTREZGENE
Build 361183,970,306 - 184,426,708 (+)NCBI Archive
HuRef1156,938,491 - 157,394,637 (+)ENTREZGENE
CHM1_11187,122,845 - 187,579,213 (+)NCBI
T2T-CHM13v2.01185,089,079 - 185,545,614 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510038   ⟹   XP_011508340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,734,391 - 186,190,949 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510041   ⟹   XP_011508343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,734,391 - 186,088,270 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002437   ⟹   XP_016857926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,962,586 - 186,190,949 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450118   ⟹   XP_024305886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,734,391 - 186,095,422 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047431608   ⟹   XP_047287564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,995,112 - 186,190,949 (+)NCBI
RefSeq Acc Id: XM_054339006   ⟹   XP_054194981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,089,079 - 185,545,614 (+)NCBI
RefSeq Acc Id: XM_054339007   ⟹   XP_054194982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,317,254 - 185,545,614 (+)NCBI
RefSeq Acc Id: XM_054339008   ⟹   XP_054194983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,349,786 - 185,545,614 (+)NCBI
RefSeq Acc Id: XM_054339009   ⟹   XP_054194984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,089,079 - 185,450,095 (+)NCBI
RefSeq Acc Id: XM_054339010   ⟹   XP_054194985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01185,089,079 - 185,442,943 (+)NCBI
RefSeq Acc Id: NP_114141   ⟸   NM_031935
- Peptide Label: precursor
- UniProtKB: Q96RW7 (UniProtKB/Swiss-Prot),   Q96DN8 (UniProtKB/Swiss-Prot),   Q96DN3 (UniProtKB/Swiss-Prot),   Q5TYR7 (UniProtKB/Swiss-Prot),   A6NGE3 (UniProtKB/Swiss-Prot),   Q96SC3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011508343   ⟸   XM_011510041
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011508340   ⟸   XM_011510038
- Peptide Label: isoform X1
- UniProtKB: Q96RW7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016857926   ⟸   XM_017002437
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024305886   ⟸   XM_024450118
- Peptide Label: isoform X4
- Sequence:
Ensembl Acc Id: ENSP00000406205   ⟸   ENST00000414277
Ensembl Acc Id: ENSP00000271588   ⟸   ENST00000271588
RefSeq Acc Id: XP_047287564   ⟸   XM_047431608
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054194981   ⟸   XM_054339006
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054194984   ⟸   XM_054339009
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054194985   ⟸   XM_054339010
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054194982   ⟸   XM_054339007
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054194983   ⟸   XM_054339008
- Peptide Label: isoform X3
Protein Domains
EGF-like   Ig-like C2-type   Nidogen G2 beta-barrel   TSP type-1   VWFA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96RW7-F1-model_v2 AlphaFold Q96RW7 1-1400 view protein structure
AF-Q96RW7-F2-model_v2 AlphaFold Q96RW7 201-1600 view protein structure
AF-Q96RW7-F3-model_v2 AlphaFold Q96RW7 401-1800 view protein structure
AF-Q96RW7-F4-model_v2 AlphaFold Q96RW7 601-2000 view protein structure
AF-Q96RW7-F5-model_v2 AlphaFold Q96RW7 801-2200 view protein structure
AF-Q96RW7-F6-model_v2 AlphaFold Q96RW7 1001-2400 view protein structure
AF-Q96RW7-F7-model_v2 AlphaFold Q96RW7 1201-2600 view protein structure
AF-Q96RW7-F8-model_v2 AlphaFold Q96RW7 1401-2800 view protein structure
AF-Q96RW7-F9-model_v2 AlphaFold Q96RW7 1601-3000 view protein structure
AF-Q96RW7-F10-model_v2 AlphaFold Q96RW7 1801-3200 view protein structure
AF-Q96RW7-F11-model_v2 AlphaFold Q96RW7 2001-3400 view protein structure
AF-Q96RW7-F12-model_v2 AlphaFold Q96RW7 2201-3600 view protein structure
AF-Q96RW7-F13-model_v2 AlphaFold Q96RW7 2401-3800 view protein structure
AF-Q96RW7-F14-model_v2 AlphaFold Q96RW7 2601-4000 view protein structure
AF-Q96RW7-F15-model_v2 AlphaFold Q96RW7 2801-4200 view protein structure
AF-Q96RW7-F16-model_v2 AlphaFold Q96RW7 3001-4400 view protein structure
AF-Q96RW7-F17-model_v2 AlphaFold Q96RW7 3201-4600 view protein structure
AF-Q96RW7-F18-model_v2 AlphaFold Q96RW7 3401-4800 view protein structure
AF-Q96RW7-F19-model_v2 AlphaFold Q96RW7 3601-5000 view protein structure
AF-Q96RW7-F20-model_v2 AlphaFold Q96RW7 3801-5200 view protein structure
AF-Q96RW7-F21-model_v2 AlphaFold Q96RW7 4001-5400 view protein structure
AF-Q96RW7-F22-model_v2 AlphaFold Q96RW7 4201-5600 view protein structure
AF-Q96RW7-F23-model_v2 AlphaFold Q96RW7 4401-5635 view protein structure

Promoters
RGD ID:6858396
Promoter ID:EPDNEW_H2363
Type:initiation region
Name:HMCN1_1
Description:hemicentin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381185,734,438 - 185,734,498EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19194 AgrOrtholog
COSMIC HMCN1 COSMIC
Ensembl Genes ENSG00000143341 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000271588 ENTREZGENE
  ENST00000271588.9 UniProtKB/Swiss-Prot
  ENST00000414277.1 UniProtKB/TrEMBL
Gene3D-CATH 2.20.100.10 UniProtKB/Swiss-Prot
  2.40.155.10 UniProtKB/Swiss-Prot
  2.60.40.10 UniProtKB/Swiss-Prot
  3.40.50.410 UniProtKB/Swiss-Prot
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000143341 GTEx
HGNC ID HGNC:19194 ENTREZGENE
Human Proteome Map HMCN1 Human Proteome Map
InterPro cEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cell_Adh-Cytoskel_Orgn UniProtKB/Swiss-Prot
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G2_nidogen/fibulin_G2F UniProtKB/Swiss-Prot
  GFP UniProtKB/Swiss-Prot
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot
  Ig-like_dom_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Ig_I-set UniProtKB/Swiss-Prot
  Ig_sub UniProtKB/Swiss-Prot
  Ig_sub2 UniProtKB/Swiss-Prot
  Ig_V-set UniProtKB/Swiss-Prot
  Nephronectin_domain UniProtKB/TrEMBL
  NOTCH1_EGF-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_rpt UniProtKB/Swiss-Prot
  TSP1_rpt_sf UniProtKB/Swiss-Prot
  vWFA_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:83872 UniProtKB/Swiss-Prot
NCBI Gene 83872 ENTREZGENE
OMIM 608548 OMIM
PANTHER CONTACTIN 5 UniProtKB/Swiss-Prot
  FIBRILLIN-1 UniProtKB/TrEMBL
  HEMICENTIN-2-RELATED UniProtKB/Swiss-Prot
  PA14 DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
Pfam cEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G2F UniProtKB/Swiss-Prot
  I-set UniProtKB/Swiss-Prot
  Ig_3 UniProtKB/Swiss-Prot
  TSP_1 UniProtKB/Swiss-Prot
PharmGKB PA142671679 PharmGKB
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IG_LIKE UniProtKB/Swiss-Prot
  NIDOGEN_G2 UniProtKB/Swiss-Prot
  TSP1 UniProtKB/Swiss-Prot
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G2F UniProtKB/Swiss-Prot
  IGc2 UniProtKB/Swiss-Prot
  IGv UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot
  TSP1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
  SSF53300 UniProtKB/Swiss-Prot
  SSF54511 UniProtKB/Swiss-Prot
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF82895 UniProtKB/Swiss-Prot
UniProt A6NGE3 ENTREZGENE
  HMCN1_HUMAN UniProtKB/Swiss-Prot
  Q5TCP6_HUMAN UniProtKB/TrEMBL
  Q5TYR7 ENTREZGENE
  Q96DN3 ENTREZGENE
  Q96DN8 ENTREZGENE
  Q96RW7 ENTREZGENE
  Q96SC3 ENTREZGENE
UniProt Secondary A6NGE3 UniProtKB/Swiss-Prot
  Q5TYR7 UniProtKB/Swiss-Prot
  Q96DN3 UniProtKB/Swiss-Prot
  Q96DN8 UniProtKB/Swiss-Prot
  Q96SC3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 HMCN1  hemicentin 1  ARMD1  age-related macular degeneration 1 (senile macular degeneration)  Data merged from RGD:1346634 737654 PROVISIONAL