LOC126862586 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) - Rat Genome Database

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Gene: LOC126862586 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901) Homo sapiens
Analyze
Symbol: LOC126862586
Name: CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901
RGD ID: 155228627
Description: This genomic region was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay in HCT116 colorectal carcinoma cells. This sequence was defined as a group 2 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on CDK7. [provided by RefSeq, Sep 2022]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381750,196,341 - 50,197,540 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.01751,063,410 - 51,064,609 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:35650434  


Genomics

Variants

.
Variants in LOC126862586
147 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000088.4(COL1A1):c.858+24G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001514295] Chr17:50196593 [GRCh38]
Chr17:48273954 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.697-2_697-1del deletion Osteogenesis imperfecta type I [RCV001948547] Chr17:50197234..50197235 [GRCh38]
Chr17:48274595..48274596 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.859-5T>C single nucleotide variant Cardiovascular phenotype [RCV002443125]|Osteogenesis imperfecta type I [RCV002190641] Chr17:50196533 [GRCh38]
Chr17:48273894 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.910del (p.Arg304fs) deletion Osteogenesis imperfecta type I [RCV001939928] Chr17:50196361 [GRCh38]
Chr17:48273722 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.913G>A (p.Gly305Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001941098] Chr17:50196358 [GRCh38]
Chr17:48273719 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.734G>A (p.Gly245Glu) single nucleotide variant not provided [RCV003314906] Chr17:50197196 [GRCh38]
Chr17:48274557 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.750+1G>A single nucleotide variant not provided [RCV003233157] Chr17:50197179 [GRCh38]
Chr17:48274540 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.874C>T (p.Pro292Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001941407] Chr17:50196513 [GRCh38]
Chr17:48273874 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.806G>C (p.Gly269Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV002467484] Chr17:50196669 [GRCh38]
Chr17:48274030 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.804+15A>C single nucleotide variant Ehlers-Danlos syndrome, arthrochalasis type [RCV001127946]|Infantile cortical hyperostosis [RCV001127947]|Osteogenesis imperfecta [RCV001127948] Chr17:50196995 [GRCh38]
Chr17:48274356 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.796G>A (p.Gly266Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV001946807] Chr17:50197018 [GRCh38]
Chr17:48274379 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.878del (p.Gly293fs) deletion Osteogenesis imperfecta type I [RCV001962134] Chr17:50196509 [GRCh38]
Chr17:48273870 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.859-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV002032603]|not provided [RCV001554895] Chr17:50196529 [GRCh38]
Chr17:48273890 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.904-9G>T single nucleotide variant Connective tissue disorder [RCV000659349]|Ehlers-Danlos syndrome [RCV002276577]|Ehlers-Danlos syndrome, arthrochalasis type [RCV001125836]|Infantile cortical hyperostosis [RCV001127944]|Osteogenesis imperfecta [RCV001127945]|Osteogenesis imperfecta type I [RCV001084866]|not provided [RCV000710775]|not specified [RCV000248029] Chr17:50196376 [GRCh38]
Chr17:48273737 [GRCh37]
Chr17:17q21.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.904-9G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001971992] Chr17:50196376 [GRCh38]
Chr17:48273737 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.750+12G>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasis type [RCV001122186]|Infantile cortical hyperostosis [RCV001122187]|Osteogenesis imperfecta [RCV001122185]|Osteogenesis imperfecta type I [RCV002062839]|not provided [RCV000991600]|not specified [RCV000609793] Chr17:50197168 [GRCh38]
Chr17:48274529 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.790A>T (p.Met264Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV002032784]|not provided [RCV001762945] Chr17:50197024 [GRCh38]
Chr17:48274385 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.858+18C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002094541] Chr17:50196599 [GRCh38]
Chr17:48273960 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.904-1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV001253294] Chr17:50196368 [GRCh38]
Chr17:48273729 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.783C>T (p.Leu261=) single nucleotide variant Cardiovascular phenotype [RCV002412165]|Osteogenesis imperfecta type I [RCV003776448] Chr17:50197031 [GRCh38]
Chr17:48274392 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.730C>A (p.Arg244Ser) single nucleotide variant not provided [RCV002469750] Chr17:50197200 [GRCh38]
Chr17:48274561 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.859-14T>G single nucleotide variant Ehlers-Danlos syndrome, arthrochalasis type [RCV000291081]|Infantile cortical hyperostosis [RCV000339030]|Osteogenesis imperfecta [RCV000399252]|Osteogenesis imperfecta type I [RCV002055021]|not specified [RCV000242449] Chr17:50196542 [GRCh38]
Chr17:48273903 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.804+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001972748] Chr17:50197009 [GRCh38]
Chr17:48274370 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.725G>T (p.Gly242Val) single nucleotide variant Osteogenesis imperfecta type I [RCV000989950] Chr17:50197205 [GRCh38]
Chr17:48274566 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.805-1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV002014190] Chr17:50196671 [GRCh38]
Chr17:48274032 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.773C>G (p.Thr258Arg) single nucleotide variant Cardiovascular phenotype [RCV002400763] Chr17:50197041 [GRCh38]
Chr17:48274402 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.727G>T (p.Glu243Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV002560234]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001197453] Chr17:50197203 [GRCh38]
Chr17:48274564 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.780C>G (p.Gly260=) single nucleotide variant Cardiovascular phenotype [RCV002409940]|Osteogenesis imperfecta type I [RCV003631250] Chr17:50197034 [GRCh38]
Chr17:48274395 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.853C>G (p.Pro285Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV000685713] Chr17:50196622 [GRCh38]
Chr17:48273983 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.779G>A (p.Gly260Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV001890294]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002250781] Chr17:50197035 [GRCh38]
Chr17:48274396 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.841_848del (p.Gly281fs) deletion Osteogenesis imperfecta type I [RCV000688236] Chr17:50196627..50196634 [GRCh38]
Chr17:48273988..48273995 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.804+18C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002211906] Chr17:50196992 [GRCh38]
Chr17:48274353 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.719G>A (p.Arg240His) single nucleotide variant not provided [RCV002248223] Chr17:50197211 [GRCh38]
Chr17:48274572 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.887G>T (p.Gly296Val) single nucleotide variant Infantile cortical hyperostosis [RCV002248997] Chr17:50196500 [GRCh38]
Chr17:48273861 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.878G>A (p.Gly293Asp) single nucleotide variant not provided [RCV000757097] Chr17:50196509 [GRCh38]
Chr17:48273870 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.801_802del (p.His267fs) microsatellite Osteogenesis imperfecta [RCV000722163] Chr17:50197012..50197013 [GRCh38]
Chr17:48274373..48274374 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.910C>T (p.Arg304Cys) single nucleotide variant not provided [RCV000788464] Chr17:50196361 [GRCh38]
Chr17:48273722 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.835_836delinsTCCTGCTGGTCC (p.Asp279fs) indel Osteogenesis imperfecta [RCV002221390] Chr17:50196639..50196640 [GRCh38]
Chr17:48274000..48274001 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.795G>A (p.Lys265=) single nucleotide variant Osteogenesis imperfecta type I [RCV001295257] Chr17:50197019 [GRCh38]
Chr17:48274380 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.804+9C>A single nucleotide variant Osteogenesis imperfecta type I [RCV002111180] Chr17:50197001 [GRCh38]
Chr17:48274362 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.858+17A>G single nucleotide variant Osteogenesis imperfecta type I [RCV002150409] Chr17:50196600 [GRCh38]
Chr17:48273961 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.697-30A>G single nucleotide variant not provided [RCV000834476] Chr17:50197263 [GRCh38]
Chr17:48274624 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.697-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000705639] Chr17:50197234 [GRCh38]
Chr17:48274595 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.896del (p.Gly299fs) deletion not provided [RCV000260005] Chr17:50196491 [GRCh38]
Chr17:48273852 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.751-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000631493]|not provided [RCV000519996] Chr17:50197064 [GRCh38]
Chr17:48274425 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NC_000017.10:g.(?_48262843)_(48277749_?)dup duplication Osteogenesis imperfecta type I [RCV000631514] Chr17:50185482..50200388 [GRCh38]
Chr17:48262843..48277749 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.903+12C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002761534] Chr17:50196472 [GRCh38]
Chr17:48273833 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.839C>A (p.Ala280Asp) single nucleotide variant Ehlers-Danlos syndrome [RCV002277966] Chr17:50196636 [GRCh38]
Chr17:48273997 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.801C>T (p.His267=) single nucleotide variant not specified [RCV000426811] Chr17:50197013 [GRCh38]
Chr17:48274374 [GRCh37]
Chr17:17q21.33		 likely benign
GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1 copy number loss See cases [RCV000053433] Chr17:49974533..56807609 [GRCh38]
Chr17:48051897..54884970 [GRCh37]
Chr17:45406896..52239969 [NCBI36]
Chr17:17q21.33-22		 pathogenic
NM_000088.4(COL1A1):c.697-1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV000703698]|not provided [RCV001592900] Chr17:50197234 [GRCh38]
Chr17:48274595 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.768C>T (p.Pro256=) single nucleotide variant Cardiovascular phenotype [RCV002404277]|Osteogenesis imperfecta [RCV002279251]|Osteogenesis imperfecta type I [RCV002056811]|not provided [RCV000488066] Chr17:50197046 [GRCh38]
Chr17:48274407 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.835G>A (p.Asp279Asn) single nucleotide variant Osteogenesis imperfecta type I [RCV001040197] Chr17:50196640 [GRCh38]
Chr17:48274001 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.697-166A>C single nucleotide variant not provided [RCV001715412] Chr17:50197399 [GRCh38]
Chr17:48274760 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.876T>C (p.Pro292=) single nucleotide variant Cardiovascular phenotype [RCV002373631]|Osteogenesis imperfecta type I [RCV003100022] Chr17:50196511 [GRCh38]
Chr17:48273872 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.697-46G>A single nucleotide variant not provided [RCV001566140] Chr17:50197279 [GRCh38]
Chr17:48274640 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.833_834delinsTT (p.Gly278Val) indel Osteogenesis imperfecta type I [RCV001039464] Chr17:50196641..50196642 [GRCh38]
Chr17:48274002..48274003 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.783C>G (p.Leu261=) single nucleotide variant Osteogenesis imperfecta type I [RCV002073543] Chr17:50197031 [GRCh38]
Chr17:48274392 [GRCh37]
Chr17:17q21.33		 likely benign
NC_000017.10:g.(?_48264825)_(48278894_?)dup duplication Osteogenesis imperfecta type I [RCV000631515] Chr17:50187464..50201533 [GRCh38]
Chr17:48264825..48278894 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.884A>G (p.Asn295Ser) single nucleotide variant not specified [RCV002247092] Chr17:50196503 [GRCh38]
Chr17:48273864 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.752G>A (p.Gly251Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV000490695] Chr17:50197062 [GRCh38]
Chr17:48274423 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.841G>A (p.Gly281Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000490718] Chr17:50196634 [GRCh38]
Chr17:48273995 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.859-2A>G single nucleotide variant Osteogenesis imperfecta type I [RCV001063643] Chr17:50196530 [GRCh38]
Chr17:48273891 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.824G>A (p.Gly275Asp) single nucleotide variant Osteogenesis imperfecta, recessive perinatal lethal [RCV000018825] Chr17:50196651 [GRCh38]
Chr17:48274012 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.904-17C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002726009] Chr17:50196384 [GRCh38]
Chr17:48273745 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.730C>T (p.Arg244Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV002800725] Chr17:50197200 [GRCh38]
Chr17:48274561 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.804+80A>C single nucleotide variant not provided [RCV000834306] Chr17:50196930 [GRCh38]
Chr17:48274291 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.723T>G (p.Pro241=) single nucleotide variant Cardiovascular phenotype [RCV002371064] Chr17:50197207 [GRCh38]
Chr17:48274568 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.697-2A>C single nucleotide variant Osteogenesis imperfecta type I [RCV002471342] Chr17:50197235 [GRCh38]
Chr17:48274596 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.769G>C (p.Gly257Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV002007244] Chr17:50197045 [GRCh38]
Chr17:48274406 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.804+1G>C single nucleotide variant Blue sclerae [RCV000415384]|Osteogenesis imperfecta type I [RCV003517190]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001198517] Chr17:50197009 [GRCh38]
Chr17:48274370 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.757C>T (p.Arg253Ter) single nucleotide variant Osteogenesis imperfecta [RCV002278252]|Osteogenesis imperfecta type I [RCV000631490]|not provided [RCV000255304] Chr17:50197057 [GRCh38]
Chr17:48274418 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.859G>A (p.Gly287Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002007540] Chr17:50196528 [GRCh38]
Chr17:48273889 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.758G>A (p.Arg253Gln) single nucleotide variant Osteogenesis imperfecta type I [RCV001987698] Chr17:50197056 [GRCh38]
Chr17:48274417 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.855T>C (p.Pro285=) single nucleotide variant Osteogenesis imperfecta type I [RCV001499307] Chr17:50196620 [GRCh38]
Chr17:48273981 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.805-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000984474] Chr17:50196671 [GRCh38]
Chr17:48274032 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.733G>T (p.Gly245Trp) single nucleotide variant Osteogenesis imperfecta [RCV000991254] Chr17:50197197 [GRCh38]
Chr17:48274558 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.751-3C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002610970] Chr17:50197066 [GRCh38]
Chr17:48274427 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.918G>T (p.Leu306=) single nucleotide variant Cardiovascular phenotype [RCV002377835]|Osteogenesis imperfecta type I [RCV001486661] Chr17:50196353 [GRCh38]
Chr17:48273714 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.862G>A (p.Glu288Lys) single nucleotide variant Ehlers-Danlos syndrome, classic type [RCV003227991]|Osteogenesis imperfecta type I [RCV001868882]|not provided [RCV001786716] Chr17:50196525 [GRCh38]
Chr17:48273886 [GRCh37]
Chr17:17q21.33		 uncertain significance|not provided
NM_000088.4(COL1A1):c.805-14C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002667354]|not provided [RCV003738283] Chr17:50196684 [GRCh38]
Chr17:48274045 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.721C>T (p.Pro241Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002710413] Chr17:50197209 [GRCh38]
Chr17:48274570 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.805G>A (p.Gly269Ser) single nucleotide variant Osteogenesis imperfecta [RCV000029584]|Osteogenesis imperfecta type I [RCV001852591] Chr17:50196670 [GRCh38]
Chr17:48274031 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.916_917del (p.Leu306fs) deletion Osteogenesis imperfecta [RCV002277768] Chr17:50196354..50196355 [GRCh38]
Chr17:48273715..48273716 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.864G>T (p.Glu288Asp) single nucleotide variant Ehlers-Danlos syndrome [RCV002277968] Chr17:50196523 [GRCh38]
Chr17:48273884 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.698G>A (p.Gly233Glu) single nucleotide variant Osteogenesis imperfecta type I [RCV001988650] Chr17:50197232 [GRCh38]
Chr17:48274593 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.904-17C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002650778] Chr17:50196384 [GRCh38]
Chr17:48273745 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.903+29G>T single nucleotide variant not provided [RCV000840979] Chr17:50196455 [GRCh38]
Chr17:48273816 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.765G>A (p.Leu255=) single nucleotide variant Osteogenesis imperfecta type I [RCV000631507] Chr17:50197049 [GRCh38]
Chr17:48274410 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.751-2A>G single nucleotide variant Osteogenesis imperfecta [RCV000029583]|Osteogenesis imperfecta type I [RCV000798967] Chr17:50197065 [GRCh38]
Chr17:48274426 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg) single nucleotide variant COL1A1-related condition [RCV003392318]|Osteogenesis imperfecta [RCV002279257]|Osteogenesis imperfecta type I [RCV000490740]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002489188]|not provided [RCV000520145] Chr17:50197045 [GRCh38]
Chr17:48274406 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.806G>A (p.Gly269Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV002806911] Chr17:50196669 [GRCh38]
Chr17:48274030 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.802A>T (p.Arg268Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV000700349] Chr17:50197012 [GRCh38]
Chr17:48274373 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.804+62A>G single nucleotide variant not provided [RCV000834305] Chr17:50196948 [GRCh38]
Chr17:48274309 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.3(COL1A1):c.920_926delinsTGAGAGGT (p.Pro307fs) indel Osteogenesis imperfecta type I [RCV000707513] Chr17:50196345..50196351 [GRCh38]
Chr17:48273706..48273712 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.814G>T (p.Gly272Cys) single nucleotide variant Infantile cortical hyperostosis [RCV002247357]|Osteogenesis imperfecta type I [RCV000018826] Chr17:50196661 [GRCh38]
Chr17:48274022 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.750+2T>C single nucleotide variant Osteogenesis imperfecta type I [RCV001051200] Chr17:50197178 [GRCh38]
Chr17:48274539 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.865C>T (p.Pro289Ser) single nucleotide variant not provided [RCV000431408] Chr17:50196522 [GRCh38]
Chr17:48273883 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.761G>A (p.Gly254Glu) single nucleotide variant Osteogenesis imperfecta type III [RCV000018892] Chr17:50197053 [GRCh38]
Chr17:48274414 [GRCh37]
Chr17:17q21.33		 pathogenic
GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1 copy number loss See cases [RCV000053432] Chr17:49137864..52147810 [GRCh38]
Chr17:47215226..50225170 [GRCh37]
Chr17:44570225..47580169 [NCBI36]
Chr17:17q21.32-22		 pathogenic
NM_000088.4(COL1A1):c.779G>T (p.Gly260Val) single nucleotide variant Osteogenesis imperfecta type I [RCV000822219] Chr17:50197035 [GRCh38]
Chr17:48274396 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.711A>G (p.Lys237=) single nucleotide variant Cardiovascular phenotype [RCV002378316] Chr17:50197219 [GRCh38]
Chr17:48274580 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.703G>A (p.Ala235Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV001914150] Chr17:50197227 [GRCh38]
Chr17:48274588 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.804+103G>A single nucleotide variant not provided [RCV000839590] Chr17:50196907 [GRCh38]
Chr17:48274268 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.887G>C (p.Gly296Ala) single nucleotide variant Osteogenesis imperfecta [RCV000722164] Chr17:50196500 [GRCh38]
Chr17:48273861 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.904-1G>T single nucleotide variant Osteogenesis imperfecta [RCV002277767] Chr17:50196368 [GRCh38]
Chr17:48273729 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.858+7G>A single nucleotide variant Ehlers-Danlos syndrome [RCV002277967] Chr17:50196610 [GRCh38]
Chr17:48273971 [GRCh37]
Chr17:17q21.33		 uncertain significance
NC_000017.10:g.(?_48271508)_(48278605_?)dup duplication Osteogenesis imperfecta type I [RCV000546229] Chr17:50194147..50201244 [GRCh38]
Chr17:48271508..48278605 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.788G>A (p.Gly263Glu) single nucleotide variant Osteogenesis imperfecta type I [RCV001867411] Chr17:50197026 [GRCh38]
Chr17:48274387 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.3(COL1A1):c.700dup duplication Osteogenesis imperfecta [RCV003388045]|Osteogenesis imperfecta type I [RCV003517349]|not provided [RCV001780532] Chr17:50197229..50197230 [GRCh38]
Chr17:48274590..48274591 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.787G>A (p.Gly263Arg) single nucleotide variant Osteogenesis imperfecta [RCV000018857] Chr17:50197027 [GRCh38]
Chr17:48274388 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu) single nucleotide variant COL1A1-related condition [RCV003967774]|Cardiovascular phenotype [RCV002379141]|Ehlers-Danlos syndrome [RCV002278310]|Osteogenesis imperfecta type I [RCV000686753]|not provided [RCV000346609] Chr17:50197190 [GRCh38]
Chr17:48274551 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.805G>C (p.Gly269Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV000631491] Chr17:50196670 [GRCh38]
Chr17:48274031 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.751G>T (p.Gly251Cys) single nucleotide variant not provided [RCV000657899] Chr17:50197063 [GRCh38]
Chr17:48274424 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.799_802del (p.His267fs) deletion Osteogenesis imperfecta type I [RCV000820173] Chr17:50197012..50197015 [GRCh38]
Chr17:48274373..48274376 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.823G>T (p.Gly275Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV000824299] Chr17:50196652 [GRCh38]
Chr17:48274013 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.903+3G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000793784] Chr17:50196481 [GRCh38]
Chr17:48273842 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.903+2T>A single nucleotide variant Osteogenesis imperfecta type I [RCV000800942] Chr17:50196482 [GRCh38]
Chr17:48273843 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.762A>T (p.Gly254=) single nucleotide variant Osteogenesis imperfecta type I [RCV001337752] Chr17:50197052 [GRCh38]
Chr17:48274413 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1 copy number loss See cases [RCV000139901] Chr17:49361155..50269440 [GRCh38]
Chr17:47438517..48346801 [GRCh37]
Chr17:44793516..45701800 [NCBI36]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.770del (p.Gly257fs) deletion Osteogenesis imperfecta type I [RCV000557376] Chr17:50197044 [GRCh38]
Chr17:48274405 [GRCh37]
Chr17:17q21.33		 pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
NM_000088.3(COL1A1):c.700delG deletion Osteogenesis imperfecta [RCV002277766] Chr17:50197230 [GRCh38]
Chr17:48274591 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.880G>T (p.Glu294Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV002881701] Chr17:50196507 [GRCh38]
Chr17:48273868 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.796G>C (p.Gly266Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV000558433] Chr17:50197018 [GRCh38]
Chr17:48274379 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.814G>A (p.Gly272Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001383972] Chr17:50196661 [GRCh38]
Chr17:48274022 [GRCh37]
Chr17:17q21.33		 pathogenic
NC_000017.10:g.(?_48264825)_(48280990_?)dup duplication Osteogenesis imperfecta type I [RCV000535870] Chr17:50187464..50203629 [GRCh38]
Chr17:48264825..48280990 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.859-17_859-16delinsGTAGATCAGAAT indel not specified [RCV000517678] Chr17:50196544..50196545 [GRCh38]
Chr17:48273905..48273906 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.868G>C (p.Gly290Arg) single nucleotide variant not provided [RCV000518578] Chr17:50196519 [GRCh38]
Chr17:48273880 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.805-36_810del deletion not provided [RCV000518812] Chr17:50196665..50196706 [GRCh38]
Chr17:48274026..48274067 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.851G>C (p.Gly284Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV000490675] Chr17:50196624 [GRCh38]
Chr17:48273985 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.731_732insC (p.Gly245fs) insertion Osteogenesis imperfecta type I [RCV000545135] Chr17:50197198..50197199 [GRCh38]
Chr17:48274559..48274560 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.886G>A (p.Gly296Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV003017193] Chr17:50196501 [GRCh38]
Chr17:48273862 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.851G>A (p.Gly284Asp) single nucleotide variant COL1A1-related condition [RCV003410020]|Osteogenesis imperfecta type I [RCV002995418] Chr17:50196624 [GRCh38]
Chr17:48273985 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.858+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003041318] Chr17:50196616 [GRCh38]
Chr17:48273977 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.722del (p.Pro241fs) deletion Osteogenesis imperfecta type I [RCV003034874] Chr17:50197208 [GRCh38]
Chr17:48274569 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.751-20T>G single nucleotide variant Osteogenesis imperfecta type I [RCV002903981] Chr17:50197083 [GRCh38]
Chr17:48274444 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.858+20T>A single nucleotide variant Osteogenesis imperfecta type I [RCV003007213] Chr17:50196597 [GRCh38]
Chr17:48273958 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.774_785del (p.Ala259_Pro262del) deletion Osteogenesis imperfecta type I [RCV002991509] Chr17:50197029..50197040 [GRCh38]
Chr17:48274390..48274401 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.903+1G>T single nucleotide variant Osteogenesis imperfecta type I [RCV003027965] Chr17:50196483 [GRCh38]
Chr17:48273844 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.861T>A (p.Gly287=) single nucleotide variant Osteogenesis imperfecta type I [RCV003017194] Chr17:50196526 [GRCh38]
Chr17:48273887 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.697-2del deletion Osteogenesis imperfecta type I [RCV003041319] Chr17:50197235 [GRCh38]
Chr17:48274596 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.738T>C (p.Pro246=) single nucleotide variant Osteogenesis imperfecta type I [RCV003065574] Chr17:50197192 [GRCh38]
Chr17:48274553 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.903+11C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002982657] Chr17:50196473 [GRCh38]
Chr17:48273834 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.904-10T>A single nucleotide variant Osteogenesis imperfecta type I [RCV003064471] Chr17:50196377 [GRCh38]
Chr17:48273738 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.697-7C>T single nucleotide variant Osteogenesis imperfecta type I [RCV001435705] Chr17:50197240 [GRCh38]
Chr17:48274601 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.766C>T (p.Pro256Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002976246] Chr17:50197048 [GRCh38]
Chr17:48274409 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.905G>A (p.Gly302Asp) single nucleotide variant Osteogenesis imperfecta, recessive perinatal lethal [RCV003140266] Chr17:50196366 [GRCh38]
Chr17:48273727 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.804+3G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003517451]|not provided [RCV003145701] Chr17:50197007 [GRCh38]
Chr17:48274368 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.750+3G>A single nucleotide variant Cardiovascular phenotype [RCV003310412]|Osteogenesis imperfecta type I [RCV003631304] Chr17:50197177 [GRCh38]
Chr17:48274538 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.760G>T (p.Gly254Ter) single nucleotide variant Osteogenesis imperfecta [RCV003331999] Chr17:50197054 [GRCh38]
Chr17:48274415 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.904-25T>A single nucleotide variant not provided [RCV003480257] Chr17:50196392 [GRCh38]
Chr17:48273753 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.804+3G>T single nucleotide variant Osteogenesis imperfecta type I [RCV003518641] Chr17:50197007 [GRCh38]
Chr17:48274368 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.804+16del deletion Osteogenesis imperfecta type I [RCV003881291] Chr17:50196994 [GRCh38]
Chr17:48274355 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.903+9G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003518242] Chr17:50196475 [GRCh38]
Chr17:48273836 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.731G>A (p.Arg244His) single nucleotide variant Osteogenesis imperfecta type I [RCV003517758] Chr17:50197199 [GRCh38]
Chr17:48274560 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.750+4A>G single nucleotide variant Osteogenesis imperfecta type I [RCV003518115] Chr17:50197176 [GRCh38]
Chr17:48274537 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.750+16_750+17insGCTGTTGGTGCTTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCATGTCTCCCTGTTCCCCAAACCAAAGGGACCCAGAGTGGCAAGAGAGCAGCCCGTTCACTAACACCTTTGTCCTGGGGTCTCCGTCTCTGATCTTAGAGTCCTGATCA insertion Osteogenesis imperfecta type I [RCV003517970] Chr17:50197163..50197164 [GRCh38]
Chr17:48274524..48274525 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.804+20T>C single nucleotide variant Osteogenesis imperfecta type I [RCV003518144] Chr17:50196990 [GRCh38]
Chr17:48274351 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.700G>T (p.Glu234Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003516771] Chr17:50197230 [GRCh38]
Chr17:48274591 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.800dup (p.His267fs) duplication Osteogenesis imperfecta type I [RCV003516737] Chr17:50197013..50197014 [GRCh38]
Chr17:48274374..48274375 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.903+16del deletion Osteogenesis imperfecta type I [RCV003517702] Chr17:50196468 [GRCh38]
Chr17:48273829 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.725del (p.Gly242fs) deletion Osteogenesis imperfecta type I [RCV003517523] Chr17:50197205 [GRCh38]
Chr17:48274566 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.858+4A>G single nucleotide variant Osteogenesis imperfecta type I [RCV003632296] Chr17:50196613 [GRCh38]
Chr17:48273974 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.699G>A (p.Gly233=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632487] Chr17:50197231 [GRCh38]
Chr17:48274592 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.930_931del (p.Gly311fs) microsatellite Osteogenesis imperfecta type I [RCV003631780] Chr17:50196340..50196341 [GRCh38]
Chr17:48273701..48273702 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.894T>C (p.Pro298=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632489] Chr17:50196493 [GRCh38]
Chr17:48273854 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.925G>T (p.Glu309Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003631957] Chr17:50196346 [GRCh38]
Chr17:48273707 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.746C>A (p.Pro249His) single nucleotide variant Osteogenesis imperfecta type I [RCV003632874] Chr17:50197184 [GRCh38]
Chr17:48274545 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.885T>A (p.Asn295Lys) single nucleotide variant Osteogenesis imperfecta type I [RCV003632909] Chr17:50196502 [GRCh38]
Chr17:48273863 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.697-9C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003632813] Chr17:50197242 [GRCh38]
Chr17:48274603 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.889G>A (p.Ala297Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV003631783] Chr17:50196498 [GRCh38]
Chr17:48273859 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.697-2A>T single nucleotide variant Osteogenesis imperfecta type I [RCV003518818] Chr17:50197235 [GRCh38]
Chr17:48274596 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.900G>T (p.Gln300His) single nucleotide variant Osteogenesis imperfecta type I [RCV003632052] Chr17:50196487 [GRCh38]
Chr17:48273848 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.751-13C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003631567] Chr17:50197076 [GRCh38]
Chr17:48274437 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.904G>C (p.Gly302Arg) single nucleotide variant COL1A1-related condition [RCV003958928] Chr17:50196367 [GRCh38]
Chr17:48273728 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.805-10C>T single nucleotide variant Osteogenesis imperfecta type I [RCV001498584] Chr17:50196680 [GRCh38]
Chr17:48274041 [GRCh37]
Chr17:17q21.33		 likely benign
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
NM_000088.4(COL1A1):c.769G>T (p.Gly257Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV002851495] Chr17:50197045 [GRCh38]
Chr17:48274406 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.903+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000527395]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV003326451] Chr17:50196483 [GRCh38]
Chr17:48273844 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.770G>A (p.Gly257Glu) single nucleotide variant Osteogenesis imperfecta type I [RCV000545904] Chr17:50197044 [GRCh38]
Chr17:48274405 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.862G>T (p.Glu288Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV000534334] Chr17:50196525 [GRCh38]
Chr17:48273886 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.903+1del deletion Osteogenesis imperfecta type I [RCV003037774] Chr17:50196483 [GRCh38]
Chr17:48273844 [GRCh37]
Chr17:17q21.33		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC126862586 COSMIC
GTEx LOC126862586 GTEx
Human Proteome Map LOC126862586 Human Proteome Map
NCBI Gene LOC126862586 ENTREZGENE