| 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]|not provided [RCV005055845] |
Chr1:186087227 [GRCh38]
Chr1:186056359 [GRCh37]
Chr1:1q31.1 |
likely benign|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]|not specified [RCV004927620] |
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]|not specified [RCV004927617] |
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]|not provided [RCV005090418] |
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]|not specified [RCV004927618] |
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]|not provided [RCV005055843] |
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]|not provided [RCV005090419] |
Chr1:186120075 [GRCh38]
Chr1:186089207 [GRCh37]
Chr1:1q31.1 |
likely benign|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]|not specified [RCV004927619] |
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 provided [RCV005090415]|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]|not provided [RCV005055844] |
Chr1:185963907 [GRCh38]
Chr1:185933039 [GRCh37]
Chr1:1q31.1 |
likely benign|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 provided [RCV005055842]|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]|not provided [RCV005090417] |
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]|not provided [RCV005090416] |
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]|not provided [RCV005056885] |
Chr1:186041081 [GRCh38]
Chr1:186010213 [GRCh37]
Chr1:1q31.1 |
likely benign|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]|not provided [RCV005056882] |
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]|not specified [RCV004927898] |
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 |
benign|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]|not provided [RCV005093469] |
Chr1:186114957 [GRCh38]
Chr1:186084089 [GRCh37]
Chr1:1q31.1 |
likely benign|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]|not provided [RCV005093474] |
Chr1:186129997 [GRCh38]
Chr1:186099129 [GRCh37]
Chr1:1q31.1 |
likely benign|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]|not specified [RCV004927724] |
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]|not specified [RCV004927774] |
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]|not specified [RCV004927777] |
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]|not specified [RCV004927792] |
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]|not specified [RCV004927797] |
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]|not specified [RCV004927731] |
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]|not specified [RCV004927770] |
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]|not specified [RCV004927768] |
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]|not specified [RCV004927762] |
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]|not specified [RCV004927779] |
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]|not specified [RCV004927747] |
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 provided [RCV005099070]|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 |
likely benign|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 provided [RCV005059319]|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]|not specified [RCV004927829] |
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 |
likely benign|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]|not specified [RCV004927840] |
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]|not specified [RCV004927845] |
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]|not specified [RCV004927861] |
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]|not specified [RCV004927873] |
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]|not specified [RCV004927865] |
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 provided [RCV005099643]|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]|not specified [RCV004927852] |
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 |
likely benign|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 |
likely benign|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 |
likely benign|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]|not specified [RCV004927872] |
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 |
likely benign|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]|not specified [RCV004927850] |
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]|not specified [RCV004927856] |
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 provided [RCV005059357]|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]|not specified [RCV004927875] |
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]|not specified [RCV004927824] |
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]|not specified [RCV004927874] |
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]|not specified [RCV004927879] |
Chr1:186166882 [GRCh38]
Chr1:186136014 [GRCh37]
Chr1:1q31.1 |
likely benign|uncertain significance |
| 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]|not specified [RCV004927837] |
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]|not specified [RCV004927868] |
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 provided [RCV005059341]|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 provided [RCV005059202]|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]|not specified [RCV004927821] |
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]|not specified [RCV004927896] |
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]|not specified [RCV004927830] |
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]|not specified [RCV004927842] |
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]|not specified [RCV004927878] |
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 |
likely benign|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]|not specified [RCV004927888] |
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 provided [RCV005101297]|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 provided [RCV005101343]|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 |
benign|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]|not specified [RCV004927919] |
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]|not specified [RCV004927936] |
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]|not specified [RCV004927968] |
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.436C>T (p.Arg146Trp) |
single nucleotide variant |
not provided [RCV005062655] |
Chr1:185864566 [GRCh38]
Chr1:185833698 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.16295-19C>G |
single nucleotide variant |
not provided [RCV005170235] |
Chr1:186182149 [GRCh38]
Chr1:186151281 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.13605G>A (p.Trp4535Ter) |
single nucleotide variant |
not provided [RCV005170346] |
Chr1:186137520 [GRCh38]
Chr1:186106652 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| 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]|not specified [RCV004927920] |
Chr1:186144614 [GRCh38]
Chr1:186113746 [GRCh37]
Chr1:1q31.1 |
likely benign|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]|not specified [RCV004927944] |
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]|not specified [RCV004927965] |
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]|not specified [RCV004927930] |
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 provided [RCV005104467]|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 provided [RCV005104466]|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 provided [RCV005065039]|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 provided [RCV005065038]|not specified [RCV004399603] |
Chr1:186119856 [GRCh38]
Chr1:186088988 [GRCh37]
Chr1:1q31.1 |
likely benign|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 provided [RCV005065040]|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 provided [RCV005102220]|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 provided [RCV005102221]|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 provided [RCV005102222]|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]|not provided [RCV005059835] |
Chr1:186093636 [GRCh38]
Chr1:186062768 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.10990G>A (p.Ala3664Thr) |
single nucleotide variant |
not provided [RCV005067625] |
Chr1:186112812 [GRCh38]
Chr1:186081944 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.16712T>C (p.Met5571Thr) |
single nucleotide variant |
not provided [RCV005175600] |
Chr1:186189682 [GRCh38]
Chr1:186158814 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.16627T>A (p.Phe5543Ile) |
single nucleotide variant |
not provided [RCV005067064] |
Chr1:186189597 [GRCh38]
Chr1:186158729 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.3336T>C (p.Thr1112=) |
single nucleotide variant |
not provided [RCV005106158] |
Chr1:185990402 [GRCh38]
Chr1:185959534 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.14099A>T (p.His4700Leu) |
single nucleotide variant |
not provided [RCV005146977] |
Chr1:186144536 [GRCh38]
Chr1:186113668 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.2521G>A (p.Val841Ile) |
single nucleotide variant |
not provided [RCV005088928] |
Chr1:185977936 [GRCh38]
Chr1:185947068 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.5404C>T (p.Leu1802Phe) |
single nucleotide variant |
not provided [RCV005084898] |
Chr1:186018286 [GRCh38]
Chr1:185987418 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.9053G>A (p.Arg3018Gln) |
single nucleotide variant |
not provided [RCV005065719] |
Chr1:186087223 [GRCh38]
Chr1:186056355 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.4162C>T (p.Pro1388Ser) |
single nucleotide variant |
not provided [RCV005067114] |
Chr1:186001390 [GRCh38]
Chr1:185970522 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.7427-19T>C |
single nucleotide variant |
not provided [RCV005067120] |
Chr1:186062495 [GRCh38]
Chr1:186031627 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.2653A>G (p.Thr885Ala) |
single nucleotide variant |
not provided [RCV005147091] |
Chr1:185981064 [GRCh38]
Chr1:185950196 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.1691_1693del (p.Glu564_Pro565delinsAla) |
deletion |
not provided [RCV005175751] |
Chr1:185933687..185933689 [GRCh38]
Chr1:185902819..185902821 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.3328A>G (p.Ile1110Val) |
single nucleotide variant |
not provided [RCV005147733] |
Chr1:185990394 [GRCh38]
Chr1:185959526 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.5765A>G (p.Glu1922Gly) |
single nucleotide variant |
not provided [RCV005066376] |
Chr1:186037949 [GRCh38]
Chr1:186007081 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.7082A>G (p.Tyr2361Cys) |
single nucleotide variant |
not provided [RCV005171083] |
Chr1:186055612 [GRCh38]
Chr1:186024744 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.10851T>C (p.His3617=) |
single nucleotide variant |
not provided [RCV005068053] |
Chr1:186106964 [GRCh38]
Chr1:186076096 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.11155C>T (p.Pro3719Ser) |
single nucleotide variant |
not provided [RCV005066635] |
Chr1:186114002 [GRCh38]
Chr1:186083134 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.4476-5dup |
duplication |
not provided [RCV005175484] |
Chr1:186007117..186007118 [GRCh38]
Chr1:185976249..185976250 [GRCh37]
Chr1:1q31.1 |
benign |
| NM_031935.3(HMCN1):c.3874+8A>G |
single nucleotide variant |
not provided [RCV005145278] |
Chr1:185997532 [GRCh38]
Chr1:185966664 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.1022-13C>G |
single nucleotide variant |
not provided [RCV005196748] |
Chr1:185923377 [GRCh38]
Chr1:185892509 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.4311A>G (p.Ala1437=) |
single nucleotide variant |
not provided [RCV005066359] |
Chr1:186001704 [GRCh38]
Chr1:185970836 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.11927C>T (p.Ala3976Val) |
single nucleotide variant |
not provided [RCV005196429] |
Chr1:186119269 [GRCh38]
Chr1:186088401 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.2844A>T (p.Glu948Asp) |
single nucleotide variant |
not provided [RCV005174653] |
Chr1:185984222 [GRCh38]
Chr1:185953354 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.6896C>T (p.Pro2299Leu) |
single nucleotide variant |
not provided [RCV005147353] |
Chr1:186055426 [GRCh38]
Chr1:186024558 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.1358T>C (p.Val453Ala) |
single nucleotide variant |
not provided [RCV005196961] |
Chr1:185925119 [GRCh38]
Chr1:185894251 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.9387A>T (p.Val3129=) |
single nucleotide variant |
not provided [RCV005086405] |
Chr1:186087955 [GRCh38]
Chr1:186057087 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.11405-15G>A |
single nucleotide variant |
not provided [RCV005088199] |
Chr1:186115243 [GRCh38]
Chr1:186084375 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.11932C>A (p.Arg3978=) |
single nucleotide variant |
not provided [RCV005195977] |
Chr1:186119274 [GRCh38]
Chr1:186088406 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.16521C>A (p.Tyr5507Ter) |
single nucleotide variant |
not provided [RCV005195996] |
Chr1:186187989 [GRCh38]
Chr1:186157121 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.8343C>A (p.Gly2781=) |
single nucleotide variant |
not provided [RCV005067452] |
Chr1:186076480 [GRCh38]
Chr1:186045612 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.7867C>T (p.Arg2623Cys) |
single nucleotide variant |
not provided [RCV005067475] |
Chr1:186067995 [GRCh38]
Chr1:186037127 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.10771-13T>C |
single nucleotide variant |
not provided [RCV005147158] |
Chr1:186106871 [GRCh38]
Chr1:186076003 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.4735A>G (p.Ile1579Val) |
single nucleotide variant |
not provided [RCV005175204] |
Chr1:186015263 [GRCh38]
Chr1:185984395 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.7426+19A>G |
single nucleotide variant |
not provided [RCV005067573] |
Chr1:186061983 [GRCh38]
Chr1:186031115 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.2372-12A>G |
single nucleotide variant |
not provided [RCV005147214] |
Chr1:185977775 [GRCh38]
Chr1:185946907 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.15057G>A (p.Gln5019=) |
single nucleotide variant |
not provided [RCV005172597] |
Chr1:186153788 [GRCh38]
Chr1:186122920 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.15423T>C (p.Asp5141=) |
single nucleotide variant |
not provided [RCV005066864] |
Chr1:186166287 [GRCh38]
Chr1:186135419 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.15366C>T (p.His5122=) |
single nucleotide variant |
not provided [RCV005173301] |
Chr1:186166230 [GRCh38]
Chr1:186135362 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.8817C>T (p.Gly2939=) |
single nucleotide variant |
not provided [RCV005175364] |
Chr1:186082894 [GRCh38]
Chr1:186052026 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.4420G>C (p.Glu1474Gln) |
single nucleotide variant |
not provided [RCV005175401] |
Chr1:186003789 [GRCh38]
Chr1:185972921 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.3378-10T>C |
single nucleotide variant |
not provided [RCV005064624] |
Chr1:185993172 [GRCh38]
Chr1:185962304 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.15943+12G>A |
single nucleotide variant |
not provided [RCV005171940] |
Chr1:186174654 [GRCh38]
Chr1:186143786 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.4053T>C (p.Tyr1351=) |
single nucleotide variant |
not provided [RCV005171603] |
Chr1:186000223 [GRCh38]
Chr1:185969355 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.3277G>T (p.Ala1093Ser) |
single nucleotide variant |
not provided [RCV005170850] |
Chr1:185990343 [GRCh38]
Chr1:185959475 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.15688+12G>A |
single nucleotide variant |
not provided [RCV005087136] |
Chr1:186171462 [GRCh38]
Chr1:186140594 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.5014A>G (p.Ile1672Val) |
single nucleotide variant |
not provided [RCV005087165] |
Chr1:186016062 [GRCh38]
Chr1:185985194 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.15256+15_15256+19del |
deletion |
not provided [RCV005065700] |
Chr1:186153998..186154002 [GRCh38]
Chr1:186123130..186123134 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.3878C>T (p.Thr1293Ile) |
single nucleotide variant |
not specified [RCV004933379] |
Chr1:186000048 [GRCh38]
Chr1:185969180 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.9253G>T (p.Ala3085Ser) |
single nucleotide variant |
not provided [RCV005110349]|not specified [RCV004933381] |
Chr1:186087535 [GRCh38]
Chr1:186056667 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.12350G>A (p.Arg4117His) |
single nucleotide variant |
not specified [RCV004933383] |
Chr1:186123071 [GRCh38]
Chr1:186092203 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.12799G>A (p.Gly4267Arg) |
single nucleotide variant |
not specified [RCV004933384] |
Chr1:186128186 [GRCh38]
Chr1:186097318 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.7927A>G (p.Arg2643Gly) |
single nucleotide variant |
not specified [RCV004933385] |
Chr1:186069710 [GRCh38]
Chr1:186038842 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.10519A>C (p.Ile3507Leu) |
single nucleotide variant |
not specified [RCV004933387] |
Chr1:186095467 [GRCh38]
Chr1:186064599 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.16375C>T (p.Pro5459Ser) |
single nucleotide variant |
not specified [RCV004933388] |
Chr1:186182248 [GRCh38]
Chr1:186151380 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.3421C>T (p.Arg1141Cys) |
single nucleotide variant |
not specified [RCV004933389] |
Chr1:185993225 [GRCh38]
Chr1:185962357 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.13421C>T (p.Ser4474Phe) |
single nucleotide variant |
not specified [RCV004933391] |
Chr1:186136776 [GRCh38]
Chr1:186105908 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.9663C>G (p.Asn3221Lys) |
single nucleotide variant |
not specified [RCV004933392] |
Chr1:186088691 [GRCh38]
Chr1:186057823 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.9232T>C (p.Ser3078Pro) |
single nucleotide variant |
not specified [RCV004933393] |
Chr1:186087514 [GRCh38]
Chr1:186056646 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.8803A>G (p.Ile2935Val) |
single nucleotide variant |
not specified [RCV004933394] |
Chr1:186082880 [GRCh38]
Chr1:186052012 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.12151G>C (p.Glu4051Gln) |
single nucleotide variant |
not specified [RCV004933395] |
Chr1:186120067 [GRCh38]
Chr1:186089199 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.5378C>A (p.Ala1793Asp) |
single nucleotide variant |
not specified [RCV004933396] |
Chr1:186018260 [GRCh38]
Chr1:185987392 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.5572A>G (p.Ile1858Val) |
single nucleotide variant |
not specified [RCV004933398] |
Chr1:186019642 [GRCh38]
Chr1:185988774 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.5692T>C (p.Cys1898Arg) |
single nucleotide variant |
not specified [RCV004933399] |
Chr1:186023096 [GRCh38]
Chr1:185992228 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.14569A>G (p.Thr4857Ala) |
single nucleotide variant |
not specified [RCV004933400] |
Chr1:186145884 [GRCh38]
Chr1:186115016 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.5978C>G (p.Ala1993Gly) |
single nucleotide variant |
not specified [RCV004933401] |
Chr1:186038955 [GRCh38]
Chr1:186008087 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.13545G>T (p.Met4515Ile) |
single nucleotide variant |
not specified [RCV004933406] |
Chr1:186136900 [GRCh38]
Chr1:186106032 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.8750A>T (p.Asp2917Val) |
single nucleotide variant |
not specified [RCV004933413] |
Chr1:186081357 [GRCh38]
Chr1:186050489 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.5341T>C (p.Phe1781Leu) |
single nucleotide variant |
not specified [RCV004933414] |
Chr1:186018223 [GRCh38]
Chr1:185987355 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.5699C>T (p.Ala1900Val) |
single nucleotide variant |
not specified [RCV004933416] |
Chr1:186023103 [GRCh38]
Chr1:185992235 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.2185C>T (p.Pro729Ser) |
single nucleotide variant |
not specified [RCV004933417] |
Chr1:185965888 [GRCh38]
Chr1:185935020 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.3820A>G (p.Thr1274Ala) |
single nucleotide variant |
not specified [RCV004933418] |
Chr1:185997470 [GRCh38]
Chr1:185966602 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.3818C>T (p.Thr1273Ile) |
single nucleotide variant |
not provided [RCV005110352]|not specified [RCV004933420] |
Chr1:185997468 [GRCh38]
Chr1:185966600 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.9769A>G (p.Ser3257Gly) |
single nucleotide variant |
not provided [RCV005110353]|not specified [RCV004933421] |
Chr1:186090799 [GRCh38]
Chr1:186059931 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.9234T>A (p.Ser3078=) |
single nucleotide variant |
not provided [RCV005086956] |
Chr1:186087516 [GRCh38]
Chr1:186056648 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.11132-12_11132-11delinsAA |
indel |
not provided [RCV005065442] |
Chr1:186113967..186113968 [GRCh38]
Chr1:186083099..186083100 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.12744T>G (p.Asp4248Glu) |
single nucleotide variant |
not provided [RCV005087050] |
Chr1:186128131 [GRCh38]
Chr1:186097263 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.15320-11T>C |
single nucleotide variant |
not provided [RCV005171064] |
Chr1:186166173 [GRCh38]
Chr1:186135305 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.8225G>A (p.Arg2742Gln) |
single nucleotide variant |
not provided [RCV005170192] |
Chr1:186074826 [GRCh38]
Chr1:186043958 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.11277-4G>A |
single nucleotide variant |
not provided [RCV005170371] |
Chr1:186114815 [GRCh38]
Chr1:186083947 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.2890A>G (p.Asn964Asp) |
single nucleotide variant |
not provided [RCV005174347] |
Chr1:185984268 [GRCh38]
Chr1:185953400 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.13753+17A>G |
single nucleotide variant |
not provided [RCV005173403] |
Chr1:186137685 [GRCh38]
Chr1:186106817 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.7817C>T (p.Thr2606Ile) |
single nucleotide variant |
not provided [RCV005085533] |
Chr1:186067945 [GRCh38]
Chr1:186037077 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.4297G>A (p.Ala1433Thr) |
single nucleotide variant |
not provided [RCV005063934] |
Chr1:186001690 [GRCh38]
Chr1:185970822 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.10189G>T (p.Val3397Phe) |
single nucleotide variant |
not provided [RCV005063778] |
Chr1:186093662 [GRCh38]
Chr1:186062794 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.8541A>G (p.Thr2847=) |
single nucleotide variant |
not provided [RCV005171496] |
Chr1:186078162 [GRCh38]
Chr1:186047294 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.3969G>T (p.Leu1323=) |
single nucleotide variant |
not provided [RCV005086739] |
Chr1:186000139 [GRCh38]
Chr1:185969271 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.1563G>C (p.Pro521=) |
single nucleotide variant |
not provided [RCV005171418] |
Chr1:185933559 [GRCh38]
Chr1:185902691 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.14267C>A (p.Thr4756Asn) |
single nucleotide variant |
not provided [RCV005172811] |
Chr1:186145403 [GRCh38]
Chr1:186114535 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.7313-18G>T |
single nucleotide variant |
not provided [RCV005174153] |
Chr1:186061833 [GRCh38]
Chr1:186030965 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.8787+4A>G |
single nucleotide variant |
not provided [RCV005086737] |
Chr1:186081398 [GRCh38]
Chr1:186050530 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.10012+17C>T |
single nucleotide variant |
not provided [RCV005060863] |
Chr1:186093275 [GRCh38]
Chr1:186062407 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.1157A>T (p.Tyr386Phe) |
single nucleotide variant |
not provided [RCV005195783] |
Chr1:185923525 [GRCh38]
Chr1:185892657 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.14750G>A (p.Arg4917His) |
single nucleotide variant |
not provided [RCV005064323] |
Chr1:186151341 [GRCh38]
Chr1:186120473 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.10305T>C (p.Asn3435=) |
single nucleotide variant |
not provided [RCV005066077] |
Chr1:186095253 [GRCh38]
Chr1:186064385 [GRCh37]
Chr1:1q31.1 |
benign |
| NM_031935.3(HMCN1):c.6084G>A (p.Pro2028=) |
single nucleotide variant |
not provided [RCV005060432] |
Chr1:186039783 [GRCh38]
Chr1:186008915 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.11957A>C (p.Glu3986Ala) |
single nucleotide variant |
not specified [RCV004933422] |
Chr1:186119745 [GRCh38]
Chr1:186088877 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.14004A>T (p.Arg4668Ser) |
single nucleotide variant |
not specified [RCV004933423] |
Chr1:186144252 [GRCh38]
Chr1:186113384 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.14455A>G (p.Ser4819Gly) |
single nucleotide variant |
not specified [RCV004933424] |
Chr1:186145770 [GRCh38]
Chr1:186114902 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.126G>A (p.Leu42=) |
single nucleotide variant |
not provided [RCV005172754] |
Chr1:185734905 [GRCh38]
Chr1:185704037 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_031935.3(HMCN1):c.12230-7A>G |
single nucleotide variant |
not provided [RCV005172913] |
Chr1:186122944 [GRCh38]
Chr1:186092076 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.8220C>A (p.Thr2740=) |
single nucleotide variant |
not provided [RCV005088157] |
Chr1:186074821 [GRCh38]
Chr1:186043953 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.10683C>A (p.Thr3561=) |
single nucleotide variant |
not provided [RCV005089024] |
Chr1:186103581 [GRCh38]
Chr1:186072713 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.5470+5G>A |
single nucleotide variant |
not provided [RCV005170811] |
Chr1:186018357 [GRCh38]
Chr1:185987489 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.5575A>G (p.Thr1859Ala) |
single nucleotide variant |
not provided [RCV005145024] |
Chr1:186019645 [GRCh38]
Chr1:185988777 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.16013A>G (p.Lys5338Arg) |
single nucleotide variant |
not provided [RCV005105749] |
Chr1:186178485 [GRCh38]
Chr1:186147617 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.8049A>T (p.Glu2683Asp) |
single nucleotide variant |
not provided [RCV005170027] |
Chr1:186070667 [GRCh38]
Chr1:186039799 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.4622C>T (p.Thr1541Ile) |
single nucleotide variant |
not provided [RCV005063842] |
Chr1:186007274 [GRCh38]
Chr1:185976406 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.1938C>T (p.Thr646=) |
single nucleotide variant |
not provided [RCV005084755] |
Chr1:185962627 [GRCh38]
Chr1:185931759 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.2567-17T>C |
single nucleotide variant |
not provided [RCV005172328] |
Chr1:185980961 [GRCh38]
Chr1:185950093 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.10999C>G (p.Arg3667Gly) |
single nucleotide variant |
not specified [RCV004933402] |
Chr1:186112821 [GRCh38]
Chr1:186081953 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.87G>T (p.Glu29Asp) |
single nucleotide variant |
not provided [RCV005061764]|not specified [RCV004933403] |
Chr1:185734866 [GRCh38]
Chr1:185703998 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_031935.3(HMCN1):c.12065A>C (p.Gln4022Pro) |
single nucleotide variant |
not specified [RCV004933404] |
Chr1:186119853 [GRCh38]
Chr1:186088985 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.6854A>C (p.Gln2285Pro) |
single nucleotide variant |
not specified [RCV004933405] |
Chr1:186053978 [GRCh38]
Chr1:186023110 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.14138C>G (p.Ser4713Cys) |
single nucleotide variant |
not specified [RCV004933408] |
Chr1:186144575 [GRCh38]
Chr1:186113707 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.6793G>A (p.Ala2265Thr) |
single nucleotide variant |
not provided [RCV005110350]|not specified [RCV004933409] |
Chr1:186053917 [GRCh38]
Chr1:186023049 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.711A>T (p.Arg237Ser) |
single nucleotide variant |
not provided [RCV005110351]|not specified [RCV004933410] |
Chr1:185909426 [GRCh38]
Chr1:185878558 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.7943C>T (p.Ala2648Val) |
single nucleotide variant |
not specified [RCV004933411] |
Chr1:186069726 [GRCh38]
Chr1:186038858 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.448T>C (p.Tyr150His) |
single nucleotide variant |
not specified [RCV004933412] |
Chr1:185864578 [GRCh38]
Chr1:185833710 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.8378A>G (p.Asn2793Ser) |
single nucleotide variant |
not specified [RCV004933425] |
Chr1:186076515 [GRCh38]
Chr1:186045647 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.12006C>A (p.Asn4002Lys) |
single nucleotide variant |
not specified [RCV004933426] |
Chr1:186119794 [GRCh38]
Chr1:186088926 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.7292A>G (p.Asn2431Ser) |
single nucleotide variant |
not provided [RCV005206836] |
Chr1:186057381 [GRCh38]
Chr1:186026513 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.8591G>A (p.Arg2864His) |
single nucleotide variant |
not provided [RCV005079116] |
Chr1:186078212 [GRCh38]
Chr1:186047344 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.6029-13T>C |
single nucleotide variant |
not provided [RCV005160830] |
Chr1:186039715 [GRCh38]
Chr1:186008847 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.72G>C (p.Ala24=) |
single nucleotide variant |
not provided [RCV005072451] |
Chr1:185734851 [GRCh38]
Chr1:185703983 [GRCh37]
Chr1:1q25.3 |
likely benign |
| NM_031935.3(HMCN1):c.13313-11T>G |
single nucleotide variant |
not provided [RCV005074908] |
Chr1:186136657 [GRCh38]
Chr1:186105789 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.7879+4A>G |
single nucleotide variant |
not provided [RCV005108137] |
Chr1:186068011 [GRCh38]
Chr1:186037143 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.4220T>C (p.Ile1407Thr) |
single nucleotide variant |
not provided [RCV005131584] |
Chr1:186001613 [GRCh38]
Chr1:185970745 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.9017A>G (p.Lys3006Arg) |
single nucleotide variant |
not provided [RCV005186158] |
Chr1:186086378 [GRCh38]
Chr1:186055510 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.2480G>T (p.Arg827Leu) |
single nucleotide variant |
not provided [RCV005206866] |
Chr1:185977895 [GRCh38]
Chr1:185947027 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.4477C>G (p.Pro1493Ala) |
single nucleotide variant |
not provided [RCV005162187] |
Chr1:186007129 [GRCh38]
Chr1:185976261 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.4630+20G>C |
single nucleotide variant |
not provided [RCV005139275] |
Chr1:186007302 [GRCh38]
Chr1:185976434 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.16225T>C (p.Ser5409Pro) |
single nucleotide variant |
not provided [RCV005070963] |
Chr1:186178697 [GRCh38]
Chr1:186147829 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.14684C>G (p.Ala4895Gly) |
single nucleotide variant |
not provided [RCV005180848] |
Chr1:186151275 [GRCh38]
Chr1:186120407 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.1464G>A (p.Lys488=) |
single nucleotide variant |
not provided [RCV005132820] |
Chr1:185928579 [GRCh38]
Chr1:185897711 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.4010T>A (p.Ile1337Asn) |
single nucleotide variant |
not provided [RCV005072720] |
Chr1:186000180 [GRCh38]
Chr1:185969312 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.5818C>A (p.Leu1940Met) |
single nucleotide variant |
not provided [RCV005130606] |
Chr1:186038002 [GRCh38]
Chr1:186007134 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.6452G>A (p.Ser2151Asn) |
single nucleotide variant |
not provided [RCV005184777] |
Chr1:186045835 [GRCh38]
Chr1:186014967 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.8861A>T (p.Lys2954Ile) |
single nucleotide variant |
not provided [RCV005157781] |
Chr1:186082938 [GRCh38]
Chr1:186052070 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.7880-20G>C |
single nucleotide variant |
not provided [RCV005132497] |
Chr1:186069643 [GRCh38]
Chr1:186038775 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.13550C>T (p.Ser4517Phe) |
single nucleotide variant |
not provided [RCV005125774] |
Chr1:186136905 [GRCh38]
Chr1:186106037 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.3778+16G>A |
single nucleotide variant |
not provided [RCV005129558] |
Chr1:185995103 [GRCh38]
Chr1:185964235 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.8379T>G (p.Asn2793Lys) |
single nucleotide variant |
not provided [RCV005079543] |
Chr1:186076516 [GRCh38]
Chr1:186045648 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.12500-20C>G |
single nucleotide variant |
not provided [RCV005131931] |
Chr1:186125584 [GRCh38]
Chr1:186094716 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.9586G>T (p.Asp3196Tyr) |
single nucleotide variant |
not provided [RCV005194484] |
Chr1:186088614 [GRCh38]
Chr1:186057746 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.2791-18C>T |
single nucleotide variant |
not provided [RCV005151608] |
Chr1:185984151 [GRCh38]
Chr1:185953283 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.5749+8A>C |
single nucleotide variant |
not provided [RCV005116990] |
Chr1:186023161 [GRCh38]
Chr1:185992293 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.14546G>T (p.Gly4849Val) |
single nucleotide variant |
not provided [RCV005159975] |
Chr1:186145861 [GRCh38]
Chr1:186114993 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.13781T>C (p.Leu4594Pro) |
single nucleotide variant |
not provided [RCV005158402] |
Chr1:186137829 [GRCh38]
Chr1:186106961 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.6170A>G (p.Asn2057Ser) |
single nucleotide variant |
not provided [RCV005153122] |
Chr1:186039869 [GRCh38]
Chr1:186009001 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.2437C>A (p.Pro813Thr) |
single nucleotide variant |
not provided [RCV005204721] |
Chr1:185977852 [GRCh38]
Chr1:185946984 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.12425A>T (p.Asp4142Val) |
single nucleotide variant |
not provided [RCV005205920] |
Chr1:186123146 [GRCh38]
Chr1:186092278 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.15946A>T (p.Ile5316Phe) |
single nucleotide variant |
not provided [RCV005118241] |
Chr1:186178418 [GRCh38]
Chr1:186147550 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.15837G>A (p.Gly5279=) |
single nucleotide variant |
not provided [RCV005151972] |
Chr1:186174536 [GRCh38]
Chr1:186143668 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.2961G>A (p.Gln987=) |
single nucleotide variant |
not provided [RCV005153895] |
Chr1:185987457 [GRCh38]
Chr1:185956589 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.9363+5A>G |
single nucleotide variant |
not provided [RCV005077435] |
Chr1:186087650 [GRCh38]
Chr1:186056782 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.13754-5T>C |
single nucleotide variant |
not provided [RCV005120264] |
Chr1:186137797 [GRCh38]
Chr1:186106929 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.5958T>A (p.Ala1986=) |
single nucleotide variant |
not provided [RCV005138253] |
Chr1:186038935 [GRCh38]
Chr1:186008067 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.1961G>A (p.Gly654Asp) |
single nucleotide variant |
not provided [RCV005071691] |
Chr1:185962650 [GRCh38]
Chr1:185931782 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.1341C>T (p.Gly447=) |
single nucleotide variant |
not provided [RCV005071682] |
Chr1:185925102 [GRCh38]
Chr1:185894234 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.16053G>A (p.Gly5351=) |
single nucleotide variant |
not provided [RCV005126526] |
Chr1:186178525 [GRCh38]
Chr1:186147657 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.14168G>A (p.Arg4723Lys) |
single nucleotide variant |
not provided [RCV005074556] |
Chr1:186144605 [GRCh38]
Chr1:186113737 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.809A>G (p.Lys270Arg) |
single nucleotide variant |
not provided [RCV005117246] |
Chr1:185911689 [GRCh38]
Chr1:185880821 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.14609-4A>G |
single nucleotide variant |
not provided [RCV005160507] |
Chr1:186151196 [GRCh38]
Chr1:186120328 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.5533G>A (p.Ala1845Thr) |
single nucleotide variant |
not provided [RCV005189536] |
Chr1:186019603 [GRCh38]
Chr1:185988735 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.4308T>C (p.Ile1436=) |
single nucleotide variant |
not provided [RCV005190889] |
Chr1:186001701 [GRCh38]
Chr1:185970833 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.2790+4A>T |
single nucleotide variant |
not provided [RCV005197155] |
Chr1:185982393 [GRCh38]
Chr1:185951525 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.3758A>G (p.Glu1253Gly) |
single nucleotide variant |
not provided [RCV005152281] |
Chr1:185995067 [GRCh38]
Chr1:185964199 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.13861G>C (p.Gly4621Arg) |
single nucleotide variant |
not provided [RCV005198580] |
Chr1:186137909 [GRCh38]
Chr1:186107041 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.6825T>C (p.Ala2275=) |
single nucleotide variant |
not provided [RCV005069608] |
Chr1:186053949 [GRCh38]
Chr1:186023081 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.13754-17G>A |
single nucleotide variant |
not provided [RCV005156684] |
Chr1:186137785 [GRCh38]
Chr1:186106917 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.8667T>G (p.Ser2889Arg) |
single nucleotide variant |
not provided [RCV005159137] |
Chr1:186081274 [GRCh38]
Chr1:186050406 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.16497C>T (p.Ile5499=) |
single nucleotide variant |
not provided [RCV005079993] |
Chr1:186187965 [GRCh38]
Chr1:186157097 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.2348G>T (p.Gly783Val) |
single nucleotide variant |
not provided [RCV005138761] |
Chr1:185970470 [GRCh38]
Chr1:185939602 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.2754C>T (p.Pro918=) |
single nucleotide variant |
not provided [RCV005152447] |
Chr1:185982353 [GRCh38]
Chr1:185951485 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.13196T>G (p.Leu4399Arg) |
single nucleotide variant |
not provided [RCV005152530] |
Chr1:186130663 [GRCh38]
Chr1:186099795 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.10520T>C (p.Ile3507Thr) |
single nucleotide variant |
not provided [RCV005073277] |
Chr1:186095468 [GRCh38]
Chr1:186064600 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.10770+3A>T |
single nucleotide variant |
not provided [RCV005185397] |
Chr1:186103671 [GRCh38]
Chr1:186072803 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.4580T>C (p.Val1527Ala) |
single nucleotide variant |
not provided [RCV005157951] |
Chr1:186007232 [GRCh38]
Chr1:185976364 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.9577+11C>G |
single nucleotide variant |
not provided [RCV005070374] |
Chr1:186088287 [GRCh38]
Chr1:186057419 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.3073A>G (p.Ser1025Gly) |
single nucleotide variant |
not provided [RCV005073409] |
Chr1:185989512 [GRCh38]
Chr1:185958644 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.15904A>C (p.Arg5302=) |
single nucleotide variant |
not provided [RCV005155753] |
Chr1:186174603 [GRCh38]
Chr1:186143735 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.12278A>G (p.Asp4093Gly) |
single nucleotide variant |
not provided [RCV005077684] |
Chr1:186122999 [GRCh38]
Chr1:186092131 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.12276G>T (p.Val4092=) |
single nucleotide variant |
not provided [RCV005077683] |
Chr1:186122997 [GRCh38]
Chr1:186092129 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.7059T>C (p.Ile2353=) |
single nucleotide variant |
not provided [RCV005157037] |
Chr1:186055589 [GRCh38]
Chr1:186024721 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.16459C>T (p.Arg5487Cys) |
single nucleotide variant |
not provided [RCV005070577] |
Chr1:186187927 [GRCh38]
Chr1:186157059 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.14788C>T (p.Leu4930=) |
single nucleotide variant |
not provided [RCV005154876] |
Chr1:186151635 [GRCh38]
Chr1:186120767 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.7194G>A (p.Val2398=) |
single nucleotide variant |
not provided [RCV005163118] |
Chr1:186057283 [GRCh38]
Chr1:186026415 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.13146G>T (p.Gln4382His) |
single nucleotide variant |
not provided [RCV005169880] |
Chr1:186130613 [GRCh38]
Chr1:186099745 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.1319C>T (p.Pro440Leu) |
single nucleotide variant |
not provided [RCV005148669] |
Chr1:185925080 [GRCh38]
Chr1:185894212 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.1581C>T (p.Asn527=) |
single nucleotide variant |
not provided [RCV005131494] |
Chr1:185933577 [GRCh38]
Chr1:185902709 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.15156G>T (p.Met5052Ile) |
single nucleotide variant |
not provided [RCV005160891] |
Chr1:186153887 [GRCh38]
Chr1:186123019 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.15726T>C (p.Asp5242=) |
single nucleotide variant |
not provided [RCV005163431] |
Chr1:186172043 [GRCh38]
Chr1:186141175 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.1431-8A>G |
single nucleotide variant |
not provided [RCV005143464] |
Chr1:185928538 [GRCh38]
Chr1:185897670 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.16785A>C (p.Arg5595=) |
single nucleotide variant |
not provided [RCV005069078] |
Chr1:186189755 [GRCh38]
Chr1:186158887 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.12937C>A (p.Leu4313Ile) |
single nucleotide variant |
not provided [RCV005127341] |
Chr1:186129998 [GRCh38]
Chr1:186099130 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.3108G>C (p.Leu1036=) |
single nucleotide variant |
not provided [RCV005187619] |
Chr1:185989547 [GRCh38]
Chr1:185958679 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.750T>A (p.Ser250=) |
single nucleotide variant |
not provided [RCV005072666] |
Chr1:185909465 [GRCh38]
Chr1:185878597 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.2936-6T>G |
single nucleotide variant |
not provided [RCV005155349] |
Chr1:185987426 [GRCh38]
Chr1:185956558 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.3946A>G (p.Ile1316Val) |
single nucleotide variant |
not provided [RCV005116453] |
Chr1:186000116 [GRCh38]
Chr1:185969248 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.16541+5G>C |
single nucleotide variant |
not provided [RCV005136030] |
Chr1:186188014 [GRCh38]
Chr1:186157146 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.785A>C (p.Asn262Thr) |
single nucleotide variant |
not provided [RCV005136080] |
Chr1:185909500 [GRCh38]
Chr1:185878632 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.15147G>A (p.Gln5049=) |
single nucleotide variant |
not provided [RCV005083843] |
Chr1:186153878 [GRCh38]
Chr1:186123010 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.2295G>T (p.Leu765=) |
single nucleotide variant |
not provided [RCV005179651] |
Chr1:185970417 [GRCh38]
Chr1:185939549 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.16414+9A>C |
single nucleotide variant |
not provided [RCV005155460] |
Chr1:186182296 [GRCh38]
Chr1:186151428 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.14096-15T>A |
single nucleotide variant |
not provided [RCV005161330] |
Chr1:186144518 [GRCh38]
Chr1:186113650 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.11124T>A (p.Thr3708=) |
single nucleotide variant |
not provided [RCV005168396] |
Chr1:186112946 [GRCh38]
Chr1:186082078 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.10379A>G (p.Asp3460Gly) |
single nucleotide variant |
not provided [RCV005127898] |
Chr1:186095327 [GRCh38]
Chr1:186064459 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.11443G>C (p.Val3815Leu) |
single nucleotide variant |
not provided [RCV005157135] |
Chr1:186115296 [GRCh38]
Chr1:186084428 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.15320-20C>T |
single nucleotide variant |
not provided [RCV005166509] |
Chr1:186166164 [GRCh38]
Chr1:186135296 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.875C>T (p.Pro292Leu) |
single nucleotide variant |
not provided [RCV005143908] |
Chr1:185911755 [GRCh38]
Chr1:185880887 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.793G>A (p.Gly265Arg) |
single nucleotide variant |
not provided [RCV005198459] |
Chr1:185909508 [GRCh38]
Chr1:185878640 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.1970+1G>A |
single nucleotide variant |
not provided [RCV005127998] |
Chr1:185962660 [GRCh38]
Chr1:185931792 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.11700T>C (p.Ala3900=) |
single nucleotide variant |
not provided [RCV005113097] |
Chr1:186117475 [GRCh38]
Chr1:186086607 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.8527G>A (p.Ala2843Thr) |
single nucleotide variant |
not provided [RCV005133847] |
Chr1:186078148 [GRCh38]
Chr1:186047280 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.9161-7C>T |
single nucleotide variant |
not provided [RCV005069631] |
Chr1:186087436 [GRCh38]
Chr1:186056568 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.7346T>C (p.Met2449Thr) |
single nucleotide variant |
not provided [RCV005180062] |
Chr1:186061884 [GRCh38]
Chr1:186031016 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.269-17T>G |
single nucleotide variant |
not provided [RCV005159446] |
Chr1:185846009 [GRCh38]
Chr1:185815141 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.8599G>A (p.Val2867Met) |
single nucleotide variant |
not provided [RCV005136665] |
Chr1:186078220 [GRCh38]
Chr1:186047352 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.14635G>C (p.Val4879Leu) |
single nucleotide variant |
not provided [RCV005198763] |
Chr1:186151226 [GRCh38]
Chr1:186120358 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.10210C>A (p.Gln3404Lys) |
single nucleotide variant |
not provided [RCV005084473] |
Chr1:186094289 [GRCh38]
Chr1:186063421 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.11721A>G (p.Leu3907=) |
single nucleotide variant |
not provided [RCV005071535] |
Chr1:186117496 [GRCh38]
Chr1:186086628 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.11967C>T (p.Val3989=) |
single nucleotide variant |
not provided [RCV005191361] |
Chr1:186119755 [GRCh38]
Chr1:186088887 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.9870T>C (p.Gly3290=) |
single nucleotide variant |
not provided [RCV005169156] |
Chr1:186090900 [GRCh38]
Chr1:186060032 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.557A>G (p.Tyr186Cys) |
single nucleotide variant |
not provided [RCV005244731] |
Chr1:185865799 [GRCh38]
Chr1:185834931 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.15956G>C (p.Cys5319Ser) |
single nucleotide variant |
not provided [RCV005130749] |
Chr1:186178428 [GRCh38]
Chr1:186147560 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.1684C>A (p.Leu562Met) |
single nucleotide variant |
not provided [RCV005164857] |
Chr1:185933680 [GRCh38]
Chr1:185902812 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.6578-6T>A |
single nucleotide variant |
not provided [RCV005180486] |
Chr1:186052946 [GRCh38]
Chr1:186022078 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.2886C>T (p.Ala962=) |
single nucleotide variant |
not provided [RCV005071757] |
Chr1:185984264 [GRCh38]
Chr1:185953396 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.4070-2A>C |
single nucleotide variant |
not provided [RCV005132199] |
Chr1:186001296 [GRCh38]
Chr1:185970428 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.7367C>T (p.Thr2456Ile) |
single nucleotide variant |
not provided [RCV005159927] |
Chr1:186061905 [GRCh38]
Chr1:186031037 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.10295-4G>A |
single nucleotide variant |
not provided [RCV005169344] |
Chr1:186095239 [GRCh38]
Chr1:186064371 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.2986A>T (p.Ile996Phe) |
single nucleotide variant |
not provided [RCV005199268] |
Chr1:185987482 [GRCh38]
Chr1:185956614 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.9206T>C (p.Val3069Ala) |
single nucleotide variant |
not provided [RCV005186499] |
Chr1:186087488 [GRCh38]
Chr1:186056620 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.7597C>A (p.Arg2533Ser) |
single nucleotide variant |
not provided [RCV005082981] |
Chr1:186065321 [GRCh38]
Chr1:186034453 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.5844T>C (p.Pro1948=) |
single nucleotide variant |
not provided [RCV005142650] |
Chr1:186038028 [GRCh38]
Chr1:186007160 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.14266+20A>G |
single nucleotide variant |
not provided [RCV005167371] |
Chr1:186144723 [GRCh38]
Chr1:186113855 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.10744G>C (p.Glu3582Gln) |
single nucleotide variant |
not provided [RCV005201672] |
Chr1:186103642 [GRCh38]
Chr1:186072774 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.52T>C (p.Ser18Pro) |
single nucleotide variant |
not provided [RCV005140757] |
Chr1:185734831 [GRCh38]
Chr1:185703963 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_031935.3(HMCN1):c.1499T>C (p.Ile500Thr) |
single nucleotide variant |
not provided [RCV005165674] |
Chr1:185928614 [GRCh38]
Chr1:185897746 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.2566+15A>G |
single nucleotide variant |
not provided [RCV005167600] |
Chr1:185977996 [GRCh38]
Chr1:185947128 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.9363+5A>T |
single nucleotide variant |
not provided [RCV005142905] |
Chr1:186087650 [GRCh38]
Chr1:186056782 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.6578-5del |
deletion |
not provided [RCV005078918] |
Chr1:186052941 [GRCh38]
Chr1:186022073 [GRCh37]
Chr1:1q31.1 |
benign |
| NM_031935.3(HMCN1):c.3874+19T>C |
single nucleotide variant |
not provided [RCV005167778] |
Chr1:185997543 [GRCh38]
Chr1:185966675 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.11947C>T (p.His3983Tyr) |
single nucleotide variant |
not provided [RCV005167885] |
Chr1:186119289 [GRCh38]
Chr1:186088421 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.11606A>T (p.Asp3869Val) |
single nucleotide variant |
not provided [RCV005141455] |
Chr1:186117038 [GRCh38]
Chr1:186086170 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.8884+10C>G |
single nucleotide variant |
not provided [RCV005131743] |
Chr1:186082971 [GRCh38]
Chr1:186052103 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.15405C>T (p.Gly5135=) |
single nucleotide variant |
not provided [RCV005159373] |
Chr1:186166269 [GRCh38]
Chr1:186135401 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.2710G>A (p.Gly904Arg) |
single nucleotide variant |
not provided [RCV005192822] |
Chr1:185982309 [GRCh38]
Chr1:185951441 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.7893G>C (p.Leu2631=) |
single nucleotide variant |
not provided [RCV005194711] |
Chr1:186069676 [GRCh38]
Chr1:186038808 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.13754-12A>G |
single nucleotide variant |
not provided [RCV005157353] |
Chr1:186137790 [GRCh38]
Chr1:186106922 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.12957A>G (p.Ser4319=) |
single nucleotide variant |
not provided [RCV005082396] |
Chr1:186130018 [GRCh38]
Chr1:186099150 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.16256G>A (p.Cys5419Tyr) |
single nucleotide variant |
not provided [RCV005166959] |
Chr1:186178728 [GRCh38]
Chr1:186147860 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.14105A>G (p.Lys4702Arg) |
single nucleotide variant |
not provided [RCV005177104] |
Chr1:186144542 [GRCh38]
Chr1:186113674 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.10322G>T (p.Gly3441Val) |
single nucleotide variant |
not provided [RCV005153108] |
Chr1:186095270 [GRCh38]
Chr1:186064402 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.14578G>A (p.Val4860Met) |
single nucleotide variant |
not provided [RCV005157571] |
Chr1:186145893 [GRCh38]
Chr1:186115025 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.1225G>C (p.Asp409His) |
single nucleotide variant |
not provided [RCV005192896] |
Chr1:185923593 [GRCh38]
Chr1:185892725 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.16063G>A (p.Ala5355Thr) |
single nucleotide variant |
not provided [RCV005081670] |
Chr1:186178535 [GRCh38]
Chr1:186147667 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.853A>G (p.Lys285Glu) |
single nucleotide variant |
not provided [RCV005160144] |
Chr1:185911733 [GRCh38]
Chr1:185880865 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.16893C>T (p.Ser5631=) |
single nucleotide variant |
not provided [RCV005080895] |
Chr1:186189863 [GRCh38]
Chr1:186158995 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.2976A>C (p.Thr992=) |
single nucleotide variant |
not provided [RCV005163803] |
Chr1:185987472 [GRCh38]
Chr1:185956604 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.12951A>T (p.Arg4317Ser) |
single nucleotide variant |
not provided [RCV005082489] |
Chr1:186130012 [GRCh38]
Chr1:186099144 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.13699C>A (p.Pro4567Thr) |
single nucleotide variant |
not provided [RCV005186564] |
Chr1:186137614 [GRCh38]
Chr1:186106746 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.12202T>C (p.Leu4068=) |
single nucleotide variant |
not provided [RCV005071103] |
Chr1:186120118 [GRCh38]
Chr1:186089250 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.2790+3A>G |
single nucleotide variant |
not provided [RCV005076557] |
Chr1:185982392 [GRCh38]
Chr1:185951524 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.3108G>T (p.Leu1036=) |
single nucleotide variant |
not provided [RCV005159649] |
Chr1:185989547 [GRCh38]
Chr1:185958679 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.10990_10991delinsAA (p.Ala3664Lys) |
indel |
not provided [RCV005138832] |
Chr1:186112812..186112813 [GRCh38]
Chr1:186081944..186081945 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.9091G>A (p.Gly3031Ser) |
single nucleotide variant |
not provided [RCV005166532] |
Chr1:186087261 [GRCh38]
Chr1:186056393 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.2944A>G (p.Thr982Ala) |
single nucleotide variant |
not provided [RCV005160427] |
Chr1:185987440 [GRCh38]
Chr1:185956572 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.5680G>A (p.Gly1894Ser) |
single nucleotide variant |
not provided [RCV005177522] |
Chr1:186023084 [GRCh38]
Chr1:185992216 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.2515T>G (p.Phe839Val) |
single nucleotide variant |
not provided [RCV005151470] |
Chr1:185977930 [GRCh38]
Chr1:185947062 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.581C>A (p.Ser194Tyr) |
single nucleotide variant |
not provided [RCV005132648] |
Chr1:185865823 [GRCh38]
Chr1:185834955 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.5301-4A>G |
single nucleotide variant |
not provided [RCV005084306] |
Chr1:186018179 [GRCh38]
Chr1:185987311 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.12346G>T (p.Gly4116Trp) |
single nucleotide variant |
not provided [RCV005207902] |
Chr1:186123067 [GRCh38]
Chr1:186092199 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.6231C>T (p.Asp2077=) |
single nucleotide variant |
not provided [RCV005076825] |
Chr1:186041063 [GRCh38]
Chr1:186010195 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.3931G>A (p.Glu1311Lys) |
single nucleotide variant |
not provided [RCV005151542] |
Chr1:186000101 [GRCh38]
Chr1:185969233 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.6952G>A (p.Gly2318Ser) |
single nucleotide variant |
not provided [RCV005151543] |
Chr1:186055482 [GRCh38]
Chr1:186024614 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.7518T>C (p.Asn2506=) |
single nucleotide variant |
not provided [RCV005153788] |
Chr1:186065242 [GRCh38]
Chr1:186034374 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.2551G>A (p.Ala851Thr) |
single nucleotide variant |
not provided [RCV005115314] |
Chr1:185977966 [GRCh38]
Chr1:185947098 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.15378del (p.Thr5127fs) |
deletion |
not provided [RCV005117846] |
Chr1:186166239 [GRCh38]
Chr1:186135371 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.4590A>C (p.Ala1530=) |
single nucleotide variant |
not provided [RCV005189974] |
Chr1:186007242 [GRCh38]
Chr1:185976374 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.1634G>C (p.Ser545Thr) |
single nucleotide variant |
not provided [RCV005140050] |
Chr1:185933630 [GRCh38]
Chr1:185902762 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.8608A>G (p.Ile2870Val) |
single nucleotide variant |
not provided [RCV005139882] |
Chr1:186081215 [GRCh38]
Chr1:186050347 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.11692T>G (p.Ser3898Ala) |
single nucleotide variant |
not provided [RCV005165768] |
Chr1:186117467 [GRCh38]
Chr1:186086599 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.5645T>C (p.Val1882Ala) |
single nucleotide variant |
not provided [RCV005077104] |
Chr1:186023049 [GRCh38]
Chr1:185992181 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.7616A>G (p.Asn2539Ser) |
single nucleotide variant |
not provided [RCV005149531] |
Chr1:186065340 [GRCh38]
Chr1:186034472 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.15688+4A>G |
single nucleotide variant |
not provided [RCV005115476] |
Chr1:186171454 [GRCh38]
Chr1:186140586 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.8449C>T (p.Pro2817Ser) |
single nucleotide variant |
not provided [RCV005075103] |
Chr1:186076586 [GRCh38]
Chr1:186045718 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.14358C>A (p.Asn4786Lys) |
single nucleotide variant |
not provided [RCV005164056] |
Chr1:186145494 [GRCh38]
Chr1:186114626 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.4417C>A (p.Leu1473Ile) |
single nucleotide variant |
not provided [RCV005069859] |
Chr1:186003786 [GRCh38]
Chr1:185972918 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.11849-8A>G |
single nucleotide variant |
not provided [RCV005138028] |
Chr1:186119183 [GRCh38]
Chr1:186088315 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.15944-7C>T |
single nucleotide variant |
not provided [RCV005082018] |
Chr1:186178409 [GRCh38]
Chr1:186147541 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.5966A>G (p.Tyr1989Cys) |
single nucleotide variant |
not provided [RCV005083961] |
Chr1:186038943 [GRCh38]
Chr1:186008075 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.1552+20T>C |
single nucleotide variant |
not provided [RCV005166408] |
Chr1:185928687 [GRCh38]
Chr1:185897819 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.122C>T (p.Thr41Met) |
single nucleotide variant |
not provided [RCV005084126] |
Chr1:185734901 [GRCh38]
Chr1:185704033 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_031935.3(HMCN1):c.7426+7A>T |
single nucleotide variant |
not provided [RCV005121072] |
Chr1:186061971 [GRCh38]
Chr1:186031103 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.5705A>G (p.Asn1902Ser) |
single nucleotide variant |
not provided [RCV005190515] |
Chr1:186023109 [GRCh38]
Chr1:185992241 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.7154G>C (p.Ser2385Thr) |
single nucleotide variant |
not provided [RCV005123710] |
Chr1:186057243 [GRCh38]
Chr1:186026375 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.8727T>C (p.Asp2909=) |
single nucleotide variant |
not provided [RCV005154282] |
Chr1:186081334 [GRCh38]
Chr1:186050466 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.3696G>A (p.Thr1232=) |
single nucleotide variant |
not provided [RCV005189028] |
Chr1:185995005 [GRCh38]
Chr1:185964137 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.11630C>T (p.Thr3877Ile) |
single nucleotide variant |
not provided [RCV005137217] |
Chr1:186117062 [GRCh38]
Chr1:186086194 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.3189A>G (p.Lys1063=) |
single nucleotide variant |
not provided [RCV005205959] |
Chr1:185989628 [GRCh38]
Chr1:185958760 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.14267-18G>T |
single nucleotide variant |
not provided [RCV005077522] |
Chr1:186145385 [GRCh38]
Chr1:186114517 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.10681A>G (p.Thr3561Ala) |
single nucleotide variant |
not provided [RCV005121204] |
Chr1:186103579 [GRCh38]
Chr1:186072711 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.3272T>A (p.Val1091Asp) |
single nucleotide variant |
not provided [RCV005082837] |
Chr1:185990338 [GRCh38]
Chr1:185959470 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.12549T>C (p.Asn4183=) |
single nucleotide variant |
not provided [RCV005083706] |
Chr1:186125653 [GRCh38]
Chr1:186094785 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.8085A>G (p.Glu2695=) |
single nucleotide variant |
not provided [RCV005084246] |
Chr1:186070703 [GRCh38]
Chr1:186039835 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.10543G>A (p.Val3515Ile) |
single nucleotide variant |
not provided [RCV005166610] |
Chr1:186095491 [GRCh38]
Chr1:186064623 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.5163G>A (p.Lys1721=) |
single nucleotide variant |
not provided [RCV005166678] |
Chr1:186016211 [GRCh38]
Chr1:185985343 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.7857C>T (p.Asn2619=) |
single nucleotide variant |
not provided [RCV005185225] |
Chr1:186067985 [GRCh38]
Chr1:186037117 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.8937C>G (p.Asn2979Lys) |
single nucleotide variant |
not provided [RCV005161504] |
Chr1:186086298 [GRCh38]
Chr1:186055430 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.190T>A (p.Ser64Thr) |
single nucleotide variant |
not provided [RCV005082922] |
Chr1:185734969 [GRCh38]
Chr1:185704101 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_031935.3(HMCN1):c.5103T>C (p.Ser1701=) |
single nucleotide variant |
not provided [RCV005082925] |
Chr1:186016151 [GRCh38]
Chr1:185985283 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.8486-12T>A |
single nucleotide variant |
not provided [RCV005166072] |
Chr1:186078095 [GRCh38]
Chr1:186047227 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.3250G>A (p.Asp1084Asn) |
single nucleotide variant |
not provided [RCV005131308] |
Chr1:185990316 [GRCh38]
Chr1:185959448 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.11564T>G (p.Leu3855Arg) |
single nucleotide variant |
not provided [RCV005188129] |
Chr1:186116996 [GRCh38]
Chr1:186086128 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.13796C>A (p.Thr4599Lys) |
single nucleotide variant |
not provided [RCV005189268] |
Chr1:186137844 [GRCh38]
Chr1:186106976 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.9330T>G (p.Ala3110=) |
single nucleotide variant |
not provided [RCV005080583] |
Chr1:186087612 [GRCh38]
Chr1:186056744 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.4630+9G>T |
single nucleotide variant |
not provided [RCV005082931] |
Chr1:186007291 [GRCh38]
Chr1:185976423 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.1684C>T (p.Leu562=) |
single nucleotide variant |
not provided [RCV005166168] |
Chr1:185933680 [GRCh38]
Chr1:185902812 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.2784A>G (p.Ser928=) |
single nucleotide variant |
not provided [RCV005156934] |
Chr1:185982383 [GRCh38]
Chr1:185951515 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.10441C>G (p.His3481Asp) |
single nucleotide variant |
not provided [RCV005161750] |
Chr1:186095389 [GRCh38]
Chr1:186064521 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.15482G>T (p.Gly5161Val) |
single nucleotide variant |
not provided [RCV005075906] |
Chr1:186166850 [GRCh38]
Chr1:186135982 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.9160+5G>A |
single nucleotide variant |
not provided [RCV005070475] |
Chr1:186087335 [GRCh38]
Chr1:186056467 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.4349-3A>C |
single nucleotide variant |
not provided [RCV005137550] |
Chr1:186003715 [GRCh38]
Chr1:185972847 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.13010T>C (p.Val4337Ala) |
single nucleotide variant |
not provided [RCV005197567] |
Chr1:186130071 [GRCh38]
Chr1:186099203 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.8952G>C (p.Leu2984Phe) |
single nucleotide variant |
not provided [RCV005122897] |
Chr1:186086313 [GRCh38]
Chr1:186055445 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.15019-9T>A |
single nucleotide variant |
not provided [RCV005178775] |
Chr1:186153741 [GRCh38]
Chr1:186122873 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.8110G>A (p.Ala2704Thr) |
single nucleotide variant |
not provided [RCV005204203] |
Chr1:186070728 [GRCh38]
Chr1:186039860 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.11895C>A (p.Tyr3965Ter) |
single nucleotide variant |
not provided [RCV005177726] |
Chr1:186119237 [GRCh38]
Chr1:186088369 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.6144T>C (p.Asp2048=) |
single nucleotide variant |
not provided [RCV005153919] |
Chr1:186039843 [GRCh38]
Chr1:186008975 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.11132-13A>G |
single nucleotide variant |
not provided [RCV005068965] |
Chr1:186113966 [GRCh38]
Chr1:186083098 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.7577A>C (p.His2526Pro) |
single nucleotide variant |
not provided [RCV005182474] |
Chr1:186065301 [GRCh38]
Chr1:186034433 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.340-9A>T |
single nucleotide variant |
not provided [RCV005129367] |
Chr1:185864461 [GRCh38]
Chr1:185833593 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.4416C>T (p.Ala1472=) |
single nucleotide variant |
not provided [RCV005197420] |
Chr1:186003785 [GRCh38]
Chr1:185972917 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.8486-20T>C |
single nucleotide variant |
not provided [RCV005198649] |
Chr1:186078087 [GRCh38]
Chr1:186047219 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.14469G>T (p.Trp4823Cys) |
single nucleotide variant |
not provided [RCV005182539] |
Chr1:186145784 [GRCh38]
Chr1:186114916 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.11662A>C (p.Thr3888Pro) |
single nucleotide variant |
not provided [RCV005068996] |
Chr1:186117094 [GRCh38]
Chr1:186086226 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.7705+7G>A |
single nucleotide variant |
not provided [RCV005069061] |
Chr1:186065436 [GRCh38]
Chr1:186034568 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.8990G>A (p.Ser2997Asn) |
single nucleotide variant |
not provided [RCV005153879] |
Chr1:186086351 [GRCh38]
Chr1:186055483 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.11612C>A (p.Thr3871Asn) |
single nucleotide variant |
not provided [RCV005153881] |
Chr1:186117044 [GRCh38]
Chr1:186086176 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.15319+18_15319+21del |
microsatellite |
not provided [RCV005068743] |
Chr1:186165186..186165189 [GRCh38]
Chr1:186134318..186134321 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.5339G>A (p.Gly1780Glu) |
single nucleotide variant |
not provided [RCV005108267] |
Chr1:186018221 [GRCh38]
Chr1:185987353 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.3857T>C (p.Phe1286Ser) |
single nucleotide variant |
not provided [RCV005148926] |
Chr1:185997507 [GRCh38]
Chr1:185966639 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.16568A>G (p.Asn5523Ser) |
single nucleotide variant |
not provided [RCV005113487] |
Chr1:186189538 [GRCh38]
Chr1:186158670 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.7212A>T (p.Val2404=) |
single nucleotide variant |
not provided [RCV005177919] |
Chr1:186057301 [GRCh38]
Chr1:186026433 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.15628A>G (p.Ile5210Val) |
single nucleotide variant |
not provided [RCV005152883] |
Chr1:186171390 [GRCh38]
Chr1:186140522 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.56C>T (p.Ser19Phe) |
single nucleotide variant |
not provided [RCV005072450] |
Chr1:185734835 [GRCh38]
Chr1:185703967 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_031935.3(HMCN1):c.9364-3T>C |
single nucleotide variant |
not provided [RCV005149002] |
Chr1:186087929 [GRCh38]
Chr1:186057061 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.16294+15T>C |
single nucleotide variant |
not provided [RCV005178032] |
Chr1:186178781 [GRCh38]
Chr1:186147913 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.4454T>C (p.Ile1485Thr) |
single nucleotide variant |
not provided [RCV005150744] |
Chr1:186003823 [GRCh38]
Chr1:185972955 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.7412G>A (p.Gly2471Glu) |
single nucleotide variant |
not provided [RCV005125095] |
Chr1:186061950 [GRCh38]
Chr1:186031082 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.12475A>G (p.Thr4159Ala) |
single nucleotide variant |
not provided [RCV005072491] |
Chr1:186123196 [GRCh38]
Chr1:186092328 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.12223G>A (p.Val4075Ile) |
single nucleotide variant |
not provided [RCV005073411] |
Chr1:186120139 [GRCh38]
Chr1:186089271 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.1080T>A (p.Asp360Glu) |
single nucleotide variant |
not provided [RCV005148295] |
Chr1:185923448 [GRCh38]
Chr1:185892580 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.1573G>A (p.Val525Met) |
single nucleotide variant |
not provided [RCV005198892] |
Chr1:185933569 [GRCh38]
Chr1:185902701 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.6289G>C (p.Asp2097His) |
single nucleotide variant |
not provided [RCV005200062] |
Chr1:186041121 [GRCh38]
Chr1:186010253 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.13194A>G (p.Gln4398=) |
single nucleotide variant |
not provided [RCV005127425] |
Chr1:186130661 [GRCh38]
Chr1:186099793 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.67G>C (p.Asp23His) |
single nucleotide variant |
not provided [RCV005153021] |
Chr1:185734846 [GRCh38]
Chr1:185703978 [GRCh37]
Chr1:1q25.3 |
uncertain significance |
| NM_031935.3(HMCN1):c.1845T>G (p.Thr615=) |
single nucleotide variant |
not provided [RCV005125202] |
Chr1:185962534 [GRCh38]
Chr1:185931666 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.1306C>A (p.Pro436Thr) |
single nucleotide variant |
not provided [RCV005151929] |
Chr1:185925067 [GRCh38]
Chr1:185894199 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.15814+20C>T |
single nucleotide variant |
not provided [RCV005069894] |
Chr1:186172151 [GRCh38]
Chr1:186141283 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.760C>A (p.Pro254Thr) |
single nucleotide variant |
not provided [RCV005205926] |
Chr1:185909475 [GRCh38]
Chr1:185878607 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.10358C>A (p.Thr3453Asn) |
single nucleotide variant |
not provided [RCV005200116] |
Chr1:186095306 [GRCh38]
Chr1:186064438 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.13924+19T>A |
single nucleotide variant |
not provided [RCV005128753] |
Chr1:186137991 [GRCh38]
Chr1:186107123 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.2765G>T (p.Arg922Leu) |
single nucleotide variant |
not provided [RCV005197909] |
Chr1:185982364 [GRCh38]
Chr1:185951496 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.9446-20T>C |
single nucleotide variant |
not provided [RCV005197923] |
Chr1:186088125 [GRCh38]
Chr1:186057257 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.7786G>T (p.Val2596Phe) |
single nucleotide variant |
not provided [RCV005124258] |
Chr1:186067914 [GRCh38]
Chr1:186037046 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.10196+13T>A |
single nucleotide variant |
not provided [RCV005069957] |
Chr1:186093682 [GRCh38]
Chr1:186062814 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.3780A>G (p.Glu1260=) |
single nucleotide variant |
not provided [RCV005156583] |
Chr1:185997430 [GRCh38]
Chr1:185966562 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.2098+7A>G |
single nucleotide variant |
not provided [RCV005123214] |
Chr1:185963902 [GRCh38]
Chr1:185933034 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.6225C>T (p.Ile2075=) |
single nucleotide variant |
not provided [RCV005149902] |
Chr1:186041057 [GRCh38]
Chr1:186010189 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.16444C>T (p.His5482Tyr) |
single nucleotide variant |
not provided [RCV005201362] |
Chr1:186187912 [GRCh38]
Chr1:186157044 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.13253C>T (p.Thr4418Ile) |
single nucleotide variant |
not provided [RCV005075445] |
Chr1:186132350 [GRCh38]
Chr1:186101482 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.10458C>A (p.Thr3486=) |
single nucleotide variant |
not provided [RCV005198723] |
Chr1:186095406 [GRCh38]
Chr1:186064538 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.2530A>G (p.Ile844Val) |
single nucleotide variant |
not provided [RCV005123934] |
Chr1:185977945 [GRCh38]
Chr1:185947077 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.16452A>T (p.Gly5484=) |
single nucleotide variant |
not provided [RCV005124043] |
Chr1:186187920 [GRCh38]
Chr1:186157052 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.13973G>A (p.Ser4658Asn) |
single nucleotide variant |
not provided [RCV005110464] |
Chr1:186144221 [GRCh38]
Chr1:186113353 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.13312+20T>G |
single nucleotide variant |
not provided [RCV005110475] |
Chr1:186132429 [GRCh38]
Chr1:186101561 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.5610C>T (p.Ala1870=) |
single nucleotide variant |
not provided [RCV005111567] |
Chr1:186019680 [GRCh38]
Chr1:185988812 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.8284A>G (p.Ile2762Val) |
single nucleotide variant |
not provided [RCV005128923] |
Chr1:186074885 [GRCh38]
Chr1:186044017 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.8014G>A (p.Gly2672Arg) |
single nucleotide variant |
not provided [RCV005128931] |
Chr1:186070632 [GRCh38]
Chr1:186039764 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.13761T>C (p.Gly4587=) |
single nucleotide variant |
not provided [RCV005113936] |
Chr1:186137809 [GRCh38]
Chr1:186106941 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.1101C>T (p.Ile367=) |
single nucleotide variant |
not provided [RCV005202684] |
Chr1:185923469 [GRCh38]
Chr1:185892601 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.12904+6T>C |
single nucleotide variant |
not provided [RCV005181950] |
Chr1:186128297 [GRCh38]
Chr1:186097429 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.10008C>A (p.Val3336=) |
single nucleotide variant |
not provided [RCV005072865] |
Chr1:186093254 [GRCh38]
Chr1:186062386 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.13320T>G (p.Pro4440=) |
single nucleotide variant |
not provided [RCV005069912] |
Chr1:186136675 [GRCh38]
Chr1:186105807 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.9884T>G (p.Ile3295Ser) |
single nucleotide variant |
not provided [RCV005178240] |
Chr1:186090914 [GRCh38]
Chr1:186060046 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.1563G>T (p.Pro521=) |
single nucleotide variant |
not provided [RCV005109407] |
Chr1:185933559 [GRCh38]
Chr1:185902691 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.4773C>T (p.Ser1591=) |
single nucleotide variant |
not provided [RCV005113113] |
Chr1:186015301 [GRCh38]
Chr1:185984433 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.6258G>T (p.Val2086=) |
single nucleotide variant |
not provided [RCV005154626] |
Chr1:186041090 [GRCh38]
Chr1:186010222 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.4618C>T (p.Leu1540=) |
single nucleotide variant |
not provided [RCV005069259] |
Chr1:186007270 [GRCh38]
Chr1:185976402 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.5288dup (p.Pro1764fs) |
duplication |
not provided [RCV005199406] |
Chr1:186017054..186017055 [GRCh38]
Chr1:185986186..185986187 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.6181-5G>A |
single nucleotide variant |
not provided [RCV005129140] |
Chr1:186041008 [GRCh38]
Chr1:186010140 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.9667A>G (p.Thr3223Ala) |
single nucleotide variant |
not provided [RCV005154681] |
Chr1:186088695 [GRCh38]
Chr1:186057827 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.12406G>A (p.Ala4136Thr) |
single nucleotide variant |
not provided [RCV005182935] |
Chr1:186123127 [GRCh38]
Chr1:186092259 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.13183A>T (p.Arg4395Ter) |
single nucleotide variant |
not provided [RCV005201690] |
Chr1:186130650 [GRCh38]
Chr1:186099782 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.7879+12G>C |
single nucleotide variant |
not provided [RCV005072039] |
Chr1:186068019 [GRCh38]
Chr1:186037151 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.9310A>G (p.Thr3104Ala) |
single nucleotide variant |
not provided [RCV005203938] |
Chr1:186087592 [GRCh38]
Chr1:186056724 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.6791C>G (p.Ala2264Gly) |
single nucleotide variant |
not provided [RCV005154414] |
Chr1:186053915 [GRCh38]
Chr1:186023047 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.8485+20G>C |
single nucleotide variant |
not provided [RCV005155747] |
Chr1:186076642 [GRCh38]
Chr1:186045774 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.14447G>T (p.Ser4816Ile) |
single nucleotide variant |
not provided [RCV005115356] |
Chr1:186145762 [GRCh38]
Chr1:186114894 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
| NM_031935.3(HMCN1):c.12240C>T (p.Val4080=) |
single nucleotide variant |
not provided [RCV005073064] |
Chr1:186122961 [GRCh38]
Chr1:186092093 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.3377+14del |
deletion |
not provided [RCV005201783] |
Chr1:185990455 [GRCh38]
Chr1:185959587 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.705T>C (p.Thr235=) |
single nucleotide variant |
not provided [RCV005199563] |
Chr1:185909420 [GRCh38]
Chr1:185878552 [GRCh37]
Chr1:1q31.1 |
likely benign |
| NM_031935.3(HMCN1):c.4789A>G (p.Ile1597Val) |
single nucleotide variant |
not provided [RCV005126960] |
Chr1:186015317 [GRCh38]
Chr1:185984449 [GRCh37]
Chr1:1q31.1 |
uncertain significance |
