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# | Reference Title | Reference Citation |
1. | High resolution molecular and histological analysis of renal disease progression in ZSF1 fa/faCP rats, a model of type 2 diabetic nephropathy. | Dower K, etal., PLoS One. 2017 Jul 26;12(7):e0181861. doi: 10.1371/journal.pone.0181861. eCollection 2017. |
2. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
3. | Role of COL4A1 in small-vessel disease and hemorrhagic stroke. | Gould DB, etal., N Engl J Med. 2006 Apr 6;354(14):1489-96. |
4. | A possible role of thioredoxin interacting protein in the pathogenesis of streptozotocin-induced diabetic nephropathy. | Hamada Y and Fukagawa M, Kobe J Med Sci. 2007;53(1-2):53-61. |
5. | Antibody blockade of c-fms suppresses the progression of inflammation and injury in early diabetic nephropathy in obese db/db mice. | Lim AK, etal., Diabetologia. 2009 May 23. |
6. | Genome-wide DNA methylation analysis reveals a potential mechanism for the pathogenesis and development of uterine leiomyomas. | Maekawa R, etal., PLoS One. 2013 Jun 20;8(6):e66632. doi: 10.1371/journal.pone.0066632. Print 2013. |
7. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
8. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
9. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
10. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
11. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
12. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
13. | Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. | van der Knaap MS, etal., Ann Neurol. 2006 Mar;59(3):504-11. |
14. | Effects of angiotensin II intervention on MMP-2, MMP-9, TIMP-1, and collagen expression in rats with pulmonary hypertension. | Wang XM, etal., Genet Mol Res. 2015 Mar 6;14(1):1707-17. doi: 10.4238/2015.March.6.17. |
15. | Genetic risk for myocardial infarction determined by polymorphisms of candidate genes in a Japanese population. | Yamada Y, etal., J Med Genet. 2008 Apr;45(4):216-21. Epub 2007 Dec 12. |
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PMID:19477666 | PMID:19506372 | PMID:19542224 | PMID:19729652 | PMID:19840616 | PMID:19851296 | PMID:19893454 | PMID:19913121 | PMID:19948975 | PMID:19949034 | PMID:20031579 | PMID:20067797 |
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PMID:38331745 | PMID:38334954 | PMID:38630472 | PMID:38747114 | PMID:39216230 |
COL4A1 (Homo sapiens - human) |
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Col4a1 (Mus musculus - house mouse) |
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Col4a1 (Rattus norvegicus - Norway rat) |
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Col4a1 (Chinchilla lanigera - long-tailed chinchilla) |
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COL4A1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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COL4A1 (Canis lupus familiaris - dog) |
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Col4a1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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COL4A1 (Sus scrofa - pig) |
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COL4A1 (Chlorocebus sabaeus - green monkey) |
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Col4a1 (Heterocephalus glaber - naked mole-rat) |
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Variants in COL4A1
2096 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_001845.6(COL4A1):c.388G>A (p.Gly130Arg) | single nucleotide variant | not provided [RCV000722465] | Chr13:110211922 [GRCh38] Chr13:110864269 [GRCh37] Chr13:13q34 |
uncertain significance |
NM_001845.6(COL4A1):c.1427G>A (p.Arg476Gln) | single nucleotide variant | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV002476038]|Inborn genetic diseases [RCV002525031]|not provided [RCV003546569]|not specified [RCV000517537] | Chr13:110192868 [GRCh38] Chr13:110845215 [GRCh37] Chr13:13q34 |
uncertain significance |
NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg) | single nucleotide variant | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV001109408]|Brain small vessel disease 1 with or without ocular anomalies [RCV002248749]|not provided [RCV001313192]|not specified [RCV000517036] | Chr13:110186444 [GRCh38] Chr13:110838791 [GRCh37] Chr13:13q34 |
likely benign|uncertain significance |
NM_001845.6(COL4A1):c.1769G>A (p.Gly590Glu) | single nucleotide variant | Brain small vessel disease 1 with or without ocular anomalies [RCV002247408] | Chr13:110186513 [GRCh38] Chr13:110838860 [GRCh37] Chr13:13q34 |
pathogenic|not provided |
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) | single nucleotide variant | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000989165]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247414]|Hemorrhage, intracerebral, susceptibility to [RCV000033090]|not provided [RCV000710795] | Chr13:110201467 [GRCh38] Chr13:110853814 [GRCh37] Chr13:13q34 |
risk factor|benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001845.6(COL4A1):c.1612C>G (p.Arg538Gly) | single nucleotide variant | Hemorrhage, intracerebral, susceptibility to [RCV000033091] | Chr13:110187254 [GRCh38] Chr13:110839601 [GRCh37] Chr13:13q34 |
risk factor |
NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg) | single nucleotide variant | Brain small vessel disease 1 with or without ocular anomalies [RCV002247361]|not provided [RCV002247360] | Chr13:110170583 [GRCh38] Chr13:110822930 [GRCh37] Chr13:13q34 |
pathogenic|likely pathogenic |
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) | single nucleotide variant | Brain small vessel disease 1 with or without ocular anomalies [RCV002247362]|not provided [RCV003226898] | Chr13:110179370 [GRCh38] Chr13:110831717 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.1685G>A (p.Gly562Glu) | single nucleotide variant | Brain small vessel disease 1 with or without ocular anomalies [RCV002247363] | Chr13:110187181 [GRCh38] Chr13:110839528 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.1A>T (p.Met1Leu) | single nucleotide variant | Brain small vessel disease 1 with or without ocular anomalies [RCV002247364] | Chr13:110307027 [GRCh38] Chr13:110959374 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp) | single nucleotide variant | Brain small vessel disease 1 with or without ocular anomalies [RCV002247365] | Chr13:110174463 [GRCh38] Chr13:110826810 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg) | single nucleotide variant | Brain small vessel disease 1 with or without ocular anomalies [RCV002247366] | Chr13:110162425 [GRCh38] Chr13:110814772 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.1493G>T (p.Gly498Val) | single nucleotide variant | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000018961] | Chr13:110192257 [GRCh38] Chr13:110844604 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.1555G>A (p.Gly519Arg) | single nucleotide variant | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000018962] | Chr13:110187311 [GRCh38] Chr13:110839658 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.1583G>A (p.Gly528Glu) | single nucleotide variant | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000018963] | Chr13:110187283 [GRCh38] Chr13:110839630 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp) | single nucleotide variant | Brain small vessel disease 1 with or without ocular anomalies [RCV002247367]|Developmental cataract [RCV001775002] | Chr13:110181326 [GRCh38] Chr13:110833673 [GRCh37] Chr13:13q34 |
pathogenic|likely pathogenic |
NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg) | single nucleotide variant | Brain small vessel disease 1 with or without ocular anomalies [RCV002247368] | Chr13:110155300 [GRCh38] Chr13:110807647 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.1492G>C (p.Gly498Arg) | single nucleotide variant | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000018966] | Chr13:110192258 [GRCh38] Chr13:110844605 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.1528G>A (p.Gly510Arg) | single nucleotide variant | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000018967]|Retinal arterial tortuosity [RCV000170340] | Chr13:110192222 [GRCh38] Chr13:110844569 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.1573_1574delinsTT (p.Gly525Leu) | indel | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000018968] | Chr13:110187292..110187293 [GRCh38] Chr13:110839639..110839640 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.554G>C (p.Gly185Ala) | single nucleotide variant | not provided [RCV000722466] | Chr13:110210041 [GRCh38] Chr13:110862388 [GRCh37] Chr13:13q34 |
uncertain significance |
NM_001845.6(COL4A1):c.*35C>A | single nucleotide variant | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant [RCV000850144] | Chr13:110150328 [GRCh38] Chr13:110802675 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.*32G>T | single nucleotide variant | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant [RCV000850146]|not provided [RCV002536170] | Chr13:110150331 [GRCh38] Chr13:110802678 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.3031G>T (p.Gly1011Ter) | single nucleotide variant | not provided [RCV000722673] | Chr13:110176451 [GRCh38] Chr13:110828798 [GRCh37] Chr13:13q34 |
uncertain significance |
NM_001845.6(COL4A1):c.1052dup (p.Pro352fs) | duplication | not provided [RCV000520081] | Chr13:110201469..110201470 [GRCh38] Chr13:110853816..110853817 [GRCh37] Chr13:13q34 |
likely pathogenic |
NM_001845.6(COL4A1):c.3142G>A (p.Glu1048Lys) | single nucleotide variant | not provided [RCV001526680] | Chr13:110175274 [GRCh38] Chr13:110827621 [GRCh37] Chr13:13q34 |
uncertain significance |
NM_001845.6(COL4A1):c.4996A>G (p.Met1666Val) | single nucleotide variant | not provided [RCV000522617] | Chr13:110150377 [GRCh38] Chr13:110802724 [GRCh37] Chr13:13q34 |
uncertain significance |
NM_001845.6(COL4A1):c.1085-2A>G | single nucleotide variant | not provided [RCV000578656] | Chr13:110200891 [GRCh38] Chr13:110853238 [GRCh37] Chr13:13q34 |
likely pathogenic|uncertain significance |
NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg) | single nucleotide variant | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV002476039]|not provided [RCV001851434]|not specified [RCV000517961] | Chr13:110182995 [GRCh38] Chr13:110835342 [GRCh37] Chr13:13q34 |
uncertain significance |
NM_001845.5(COL4A1):c.4928+411A>T | single nucleotide variant | Lung cancer [RCV000097732] | Chr13:110151923 [GRCh38] Chr13:110804270 [GRCh37] Chr13:13q34 |
uncertain significance |
NM_001845.5(COL4A1):c.4641-239C>A | single nucleotide variant | Lung cancer [RCV000097733] | Chr13:110155636 [GRCh38] Chr13:110807983 [GRCh37] Chr13:13q34 |
uncertain significance |
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]|See cases [RCV000050921] | Chr13:107918132..114327173 [GRCh38] Chr13:108570480..115092648 [GRCh37] Chr13:13q33.3-34 |
pathogenic |
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1 | copy number loss | See cases [RCV000050922] | Chr13:107918132..114327173 [GRCh38] Chr13:108570480..115092648 [GRCh37] Chr13:107368481..114110750 [NCBI36] Chr13:13q33.3-34 |
pathogenic |
GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1 | copy number loss | See cases [RCV000050540] | Chr13:108743171..114327173 [GRCh38] Chr13:109395519..115085141 [GRCh37] Chr13:108193520..114110750 [NCBI36] Chr13:13q33.3-34 |
pathogenic |
GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1 | copy number loss | See cases [RCV000051448] | Chr13:104461586..114327173 [GRCh38] Chr13:105113936..115085141 [GRCh37] Chr13:103911937..114110750 [NCBI36] Chr13:13q33.2-34 |
pathogenic |
GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1 | copy number loss | See cases [RCV000051449] | Chr13:104698508..114327173 [GRCh38] Chr13:105350859..115085141 [GRCh37] Chr13:104148860..114110750 [NCBI36] Chr13:13q33.2-34 |
pathogenic |
GRCh38/hg38 13q33.2-34(chr13:105571072-114327314)x1 | copy number loss | See cases [RCV000051450] | Chr13:105571072..114327314 [GRCh38] Chr13:106223421..115085141 [GRCh37] Chr13:105021422..114110891 [NCBI36] Chr13:13q33.2-34 |
pathogenic |
GRCh38/hg38 13q33.2-34(chr13:106043720-110366226)x1 | copy number loss | See cases [RCV000051451] | Chr13:106043720..110366226 [GRCh38] Chr13:106696069..111018573 [GRCh37] Chr13:105494070..109816574 [NCBI36] Chr13:13q33.2-34 |
pathogenic |
GRCh38/hg38 13q33.3-34(chr13:107168805-114327314)x1 | copy number loss | See cases [RCV000051452] | Chr13:107168805..114327314 [GRCh38] Chr13:107821153..115085141 [GRCh37] Chr13:106619154..114110891 [NCBI36] Chr13:13q33.3-34 |
pathogenic |
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] | Chr13:82581008..114327173 [GRCh38] Chr13:83155143..115085141 [GRCh37] Chr13:82053144..114110750 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 | copy number loss | See cases [RCV000051418] | Chr13:91366227..114327314 [GRCh38] Chr13:92018481..115085141 [GRCh37] Chr13:90816482..114110891 [NCBI36] Chr13:13q31.3-34 |
pathogenic |
GRCh38/hg38 13q32.3-34(chr13:101049614-114327314)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|See cases [RCV000051421] | Chr13:101049614..114327314 [GRCh38] Chr13:101587036..115085141 [GRCh37] Chr13:100385037..114110891 [NCBI36] Chr13:13q32.3-34 |
pathogenic |
GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1 | copy number loss | See cases [RCV000051422] | Chr13:101537045..114327173 [GRCh38] Chr13:102189396..115085141 [GRCh37] Chr13:100987397..114110750 [NCBI36] Chr13:13q33.1-34 |
pathogenic |
GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1 | copy number loss | See cases [RCV000051423] | Chr13:102114025..114327173 [GRCh38] Chr13:102766375..115085141 [GRCh37] Chr13:101564376..114110750 [NCBI36] Chr13:13q33.1-34 |
pathogenic |
GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1 | copy number loss | See cases [RCV000051180] | Chr13:106157165..114327173 [GRCh38] Chr13:106809514..115085141 [GRCh37] Chr13:105607515..114110750 [NCBI36] Chr13:13q33.2-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 | copy number gain | See cases [RCV000053731] | Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 | copy number gain | See cases [RCV000053719] | Chr13:18565048..114327173 [GRCh38] Chr13:19139188..115085141 [GRCh37] Chr13:18037188..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 | copy number gain | See cases [RCV000053723] | Chr13:18850545..114327173 [GRCh38] Chr13:19296527..115085141 [GRCh37] Chr13:18194527..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 | copy number gain | See cases [RCV000053726] | Chr13:18946182..114304628 [GRCh38] Chr13:19520322..115070103 [GRCh37] Chr13:18418322..114088205 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3 | copy number gain | See cases [RCV000053792] | Chr13:99472316..114293545 [GRCh38] Chr13:100124570..115059020 [GRCh37] Chr13:98922571..114077122 [NCBI36] Chr13:13q32.3-34 |
pathogenic |
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 | copy number gain | See cases [RCV000053762] | Chr13:43219125..114327314 [GRCh38] Chr13:43793261..115085141 [GRCh37] Chr13:42691261..114110891 [NCBI36] Chr13:13q14.11-34 |
pathogenic |
GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3 | copy number gain | See cases [RCV000053795] | Chr13:100039860..114327173 [GRCh38] Chr13:100692114..115085141 [GRCh37] Chr13:99490115..114110750 [NCBI36] Chr13:13q32.3-34 |
pathogenic |
GRCh38/hg38 13q33.3-34(chr13:109162657-114327314)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]|See cases [RCV000053797] | Chr13:109162657..114327314 [GRCh38] Chr13:109815005..115085141 [GRCh37] Chr13:108613006..114110891 [NCBI36] Chr13:13q33.3-34 |
pathogenic |
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 | copy number gain | See cases [RCV000053764] | Chr13:44164751..114327173 [GRCh38] Chr13:44738887..115085141 [GRCh37] Chr13:43636887..114110750 [NCBI36] Chr13:13q14.11-34 |
pathogenic |
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 | copy number gain | See cases [RCV000053767] | Chr13:44733046..114327173 [GRCh38] Chr13:45307182..115085141 [GRCh37] Chr13:44205182..114110750 [NCBI36] Chr13:13q14.12-34 |
pathogenic |
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 | copy number gain | See cases [RCV000053770] | Chr13:74345951..114327314 [GRCh38] Chr13:74920088..115085141 [GRCh37] Chr13:73818089..114110891 [NCBI36] Chr13:13q22.1-34 |
pathogenic |
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] | Chr13:80628584..114327173 [GRCh38] Chr13:81202719..115085141 [GRCh37] Chr13:80100720..114110750 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 | copy number gain | See cases [RCV000053759] | Chr13:33528097..114327173 [GRCh38] Chr13:34102234..115085141 [GRCh37] Chr13:33000234..114110750 [NCBI36] Chr13:13q13.2-34 |
pathogenic |
NM_001845.6(COL4A1):c.3285C>T (p.Ser1095=) | single nucleotide variant | not provided [RCV000885826]|not specified [RCV000517149] | Chr13:110174663 [GRCh38] Chr13:110827010 [GRCh37] Chr13:109625011 [NCBI36] Chr13:13q34 |
likely benign|not provided |
NM_001845.5(COL4A1):c.2550C>T (p.Leu850=) | single nucleotide variant | Malignant melanoma [RCV000070286] | Chr13:110178140 [GRCh38] Chr13:110830487 [GRCh37] Chr13:109628488 [NCBI36] Chr13:13q34 |
not provided |
NM_001845.6(COL4A1):c.2426C>T (p.Pro809Leu) | single nucleotide variant | not provided [RCV004775184] | Chr13:110178955 [GRCh38] Chr13:110831302 [GRCh37] Chr13:109629303 [NCBI36] Chr13:13q34 |
uncertain significance|not provided |
NM_001845.6(COL4A1):c.3976G>A (p.Gly1326Arg) | single nucleotide variant | Brain small vessel disease 1 with or without ocular anomalies [RCV002247500]|not provided [RCV003556166] | Chr13:110166277 [GRCh38] Chr13:110818624 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) | single nucleotide variant | Abnormal corpus callosum morphology [RCV001391278]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247502]|Cerebral calcification [RCV001030993]|not provided [RCV000398907] | Chr13:110183002 [GRCh38] Chr13:110835349 [GRCh37] Chr13:13q34 |
pathogenic|likely pathogenic |
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) | single nucleotide variant | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000989163]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247544]|Inborn genetic diseases [RCV004019794]|not provided [RCV000710799] | Chr13:110179352 [GRCh38] Chr13:110831699 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.2317G>C (p.Gly773Arg) | single nucleotide variant | Brain small vessel disease 1 with or without ocular anomalies [RCV002247545] | Chr13:110179298 [GRCh38] Chr13:110831645 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.4881C>G (p.Asn1627Lys) | single nucleotide variant | Brain small vessel disease 1 with or without ocular anomalies [RCV002247546] | Chr13:110152381 [GRCh38] Chr13:110804728 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.2122G>A (p.Gly708Arg) | single nucleotide variant | Brain small vessel disease 1 with or without ocular anomalies [RCV002247547] | Chr13:110181363 [GRCh38] Chr13:110833710 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.2085del (p.Gly696fs) | deletion | Brain small vessel disease 1 with or without ocular anomalies [RCV002247542] | Chr13:110183003 [GRCh38] Chr13:110835350 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.2194-1G>A | single nucleotide variant | Brain small vessel disease 1 with or without ocular anomalies [RCV002247543] | Chr13:110179422 [GRCh38] Chr13:110831769 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.1815T>C (p.Pro605=) | single nucleotide variant | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000292185]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247586]|Porencephalic cyst [RCV000398021]|not provided [RCV001515214]|not specified [RCV000176641] | Chr13:110186467 [GRCh38] Chr13:110838814 [GRCh37] Chr13:13q34 |
benign |
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) | single nucleotide variant | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000378889]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247587]|COL4A1-related disorder [RCV004739560]|Chronic kidney disease [RCV001171323]|Optic nerve hypoplasia [RCV000677255]|not provided [RCV000877903]|not specified [RCV000177132] | Chr13:110213999 [GRCh38] Chr13:110866346 [GRCh37] Chr13:13q34 |
benign|likely benign|uncertain significance |
NM_001845.6(COL4A1):c.234+8C>T | single nucleotide variant | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000318401]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247588]|Porencephalic cyst [RCV000283020]|not provided [RCV001515221]|not specified [RCV000177133] | Chr13:110213918 [GRCh38] Chr13:110866265 [GRCh37] Chr13:13q34 |
benign |
NM_001845.6(COL4A1):c.*31G>T | single nucleotide variant | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant [RCV000850145] | Chr13:110150332 [GRCh38] Chr13:110802679 [GRCh37] Chr13:13q34 |
pathogenic |
NM_001845.6(COL4A1):c.859-8_859del | deletion | not provided [RCV000722254] | Chr13:110205538..110205546 [GRCh38] Chr13:110857885..110857893 [GRCh37] Chr13:13q34 |
uncertain significance |
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) | single nucleotide variant | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000296480]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247592]|not provided [RCV000878096]|not specified [RCV000178572] | Chr13:110166257 [GRCh38] Chr13:110818604 [GRCh37] Chr13:13q34 |
benign|likely benign |
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) | single nucleotide variant | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000326846]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247593]|Porencephalic cyst [RCV000269625]|not provided [RCV001511286]|not specified [RCV000178573] | Chr13:110166251 [GRCh38] Chr13:110818598 [GRCh37] Chr13:13q34 |
benign |
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) | single nucleotide variant | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000288435]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247594]|COL4A1-related disorder [RCV004528950]|not provided [RCV000878045]|not specified [RCV000178599] | Chr13:110164956 [GRCh38] Chr13:110817303 [GRCh37] Chr13:13q34 |
benign|likely benign |
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3 | copy number gain | See cases [RCV000050921] | Chr13:107918132..114327173 [GRCh38] Chr13:108570480..115085141 [GRCh37] Chr13:107368481..114110750 [NCBI36] Chr13:13q33.3-34 |
pathogenic |
NM_001845.6(COL4A1):c.393G>A (p.Glu131=) | single nucleotide variant | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000339614]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247596]|not provided [RCV000878321]|not specified [RCV000179830] | Chr13:110211917 [GRCh38] Chr13:110864264 [GRCh37] Chr13:13q34 |
benign|likely benign |
NM_001845.6(COL4A1):c.19G>C (p.Val7Leu) | single nucleotide variant | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome [RCV000259549]|Brain small vessel disease 1 with or without ocular anomalies [RCV002247583]|Porencephalic cyst [RCV000305275]|not provided [RCV001515223]|not specified [RCV000173263] | Chr13:110307009 [GRCh38] Chr13:110959356 [GRCh37] Chr13:13q34 |
benign |
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg) | single nucleotide variant | Brain small vessel disease 1 with or without ocular anomalies [RCV002247615]|COL4A1-related disorder [RCV003335188]|Inborn genetic diseases [RCV000190674]|Microangiopathy and leukoencephalopathy, pontine, autosomal dominant [RCV002283465]|not provided [RCV001532731] | Chr13:110178196 [GRCh38] Chr13:110830543 [GRCh37] Chr13:13q34 |
pathogenic|likely pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 | copy number gain | See cases [RCV000134104] | Chr13:19833130..114298614 [GRCh38] Chr13:20407270..115064089 [GRCh37] Chr13:19305270..114082191 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 | copy number loss | See cases [RCV000135610] | Chr13:18445862..114327173 [GRCh38] Chr13:19020001..115085141 [GRCh37] Chr13:10098739..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 | copy number gain | See cases [RCV000137102] | Chr13:88937651..114327173 [GRCh38] Chr13:89589905..115085141 [GRCh37] Chr13:88387906..114110750 [NCBI36] Chr13:13q31.2-34 |
pathogenic |
GRCh38/hg38 13q34(chr13:109862835-110921746)x3 | copy number gain | See cases [RCV000136625] | Chr13:109862835..110921746 [GRCh38] Chr13:110515182..111574093 [GRCh37] Chr13:109313183..110372094 [NCBI36] Chr13:13q34 |
uncertain significance |
GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3 | copy number gain | See cases [RCV000136805] | Chr13:101868708..114293545 [GRCh38] Chr13:102521058..115059020 [GRCh37] Chr13:101319059..114077122 [NCBI36] Chr13:13q33.1-34 |
pathogenic |
GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1 | copy number loss | See cases [RCV000137684] | Chr13:107075477..114340331 [GRCh38] Chr13:107727825..115085141 [GRCh37] Chr13:106525826..114123908 [NCBI36] Chr13:13q33.3-34 |
pathogenic |
GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1 | copy number loss | See cases [RCV000137823] | Chr13:102883322..114340331 [GRCh38] Chr13:103535672..115085141 [GRCh37] Chr13:102333673..114123908 [NCBI36] Chr13:13q33.1-34 |
pathogenic |
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 | copy number loss | See cases [RCV000137893] | Chr13:40942298..114340331 [GRCh38] Chr13:41516434..115085141 [GRCh37] Chr13:40414434..114123908 [NCBI36] Chr13:13q14.11-34 |
pathogenic |
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 | copy number gain | See cases [RCV000138742] | Chr13:78999318..114327106 [GRCh38] Chr13:79573453..115085141 [GRCh37] Chr13:78471454..114110683 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 | copy number loss | See cases [RCV000138340] | Chr13:86788927..114340331 [GRCh38] Chr13:87441182..115085141 [GRCh37] Chr13:86239183..114123908 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 | copy number gain | See cases [RCV000139078] | Chr13:19833130..114327106 [GRCh38] Chr13:20407270..115085141 [GRCh37] Chr13:19305270..114110683 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3 | copy number gain | See cases [RCV000139021] | Chr13:95744855..110863818 [GRCh38] Chr13:96397109..111516165 [GRCh37] Chr13:95195110..110314166 [NCBI36] Chr13:13q32.1-34 |
pathogenic |
GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3 | copy number gain | See cases [RCV000139160] | Chr13:96745059..114327106 [GRCh38] Chr13:97397313..115085141 [GRCh37] Chr13:96195314..114110683 [NCBI36] Chr13:13q32.1-34 |
pathogenic |
GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1 | copy number loss | See cases [RCV000140449] | Chr13:105861075..114342258 [GRCh38] Chr13:106513424..115107733 [GRCh37] Chr13:105311425..114125835 [NCBI36] Chr13:13q33.2-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 | copy number gain | See cases [RCV000140004] | Chr13:18456040..114340285 [GRCh38] Chr13:19030180..115105760 [GRCh37] Chr13:17928180..114123862 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3 | copy number gain | See cases [RCV000141331] | Chr13:101762788..114340285 [GRCh38] Chr13:102415138..115105760 [GRCh37] Chr13:101213139..114123862 [NCBI36] Chr13:13q33.1-34 |
pathogenic |
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 | copy number gain | See cases [RCV000141248] | Chr13:78964223..114340331 [GRCh38] Chr13:79538358..115085141 [GRCh37] Chr13:78436359..114123908 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
GRCh38/hg38 13q33.3-34(chr13:107708655-112101112)x1 | copy number loss | See cases [RCV000141465] | Chr13:107708655..112101112 [GRCh38] Chr13:108361003..112755426 [GRCh37] Chr13:107159004..111803427 [NCBI36] Chr13:13q33.3-34 |
pathogenic |
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 | copy number gain | See cases [RCV000141804] | Chr13:83288131..114342258 [GRCh38] Chr13:83862266..115107733 [GRCh37] Chr13:82760267..114125835 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
GRCh38/hg38 13q33.1-34(chr13:103914488-110857896)x3 | copy number gain | See cases [RCV000143101] | Chr13:103914488..110857896 [GRCh38] Chr13:104566838..111510243 [GRCh37] Chr13:103364839..110308244 [NCBI36] Chr13:13q33.1-34 |
uncertain significance |