Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CREB3L1 | Human | osteogenesis imperfecta type 16 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CREB3L1 | Human | osteogenesis imperfecta type 16 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
5. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
6. | The impact of the unfolded protein response on human disease. | Wang S and Kaufman RJ, J Cell Biol. 2012 Jun 25;197(7):857-67. doi: 10.1083/jcb.201110131. |
PMID:8619474 | PMID:8889548 | PMID:9110174 | PMID:12054625 | PMID:12477932 | PMID:12805554 | PMID:16236796 | PMID:16344560 | PMID:17721195 | PMID:19274049 | PMID:21041443 | PMID:21516116 |
PMID:21536545 | PMID:21767813 | PMID:21873635 | PMID:21987447 | PMID:22705851 | PMID:22810586 | PMID:23256041 | PMID:23335989 | PMID:23383089 | PMID:23588368 | PMID:23661758 | PMID:23955342 |
PMID:24126059 | PMID:24242870 | PMID:24441665 | PMID:24722188 | PMID:24896634 | PMID:25310401 | PMID:25353281 | PMID:25416956 | PMID:25625847 | PMID:25910212 | PMID:26110425 | PMID:26558437 |
PMID:26810754 | PMID:26871637 | PMID:26917262 | PMID:27107014 | PMID:27121396 | PMID:27499293 | PMID:28473536 | PMID:28514442 | PMID:28750683 | PMID:28817112 | PMID:29093023 | PMID:29531016 |
PMID:29892012 | PMID:30021884 | PMID:30103710 | PMID:30657919 | PMID:31207160 | PMID:31515488 | PMID:32234057 | PMID:32296183 | PMID:33150680 | PMID:33961781 | PMID:34990868 | PMID:35156780 |
PMID:35689957 | PMID:35802566 | PMID:36192735 | PMID:36217029 | PMID:38380081 |
CREB3L1 (Homo sapiens - human) |
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Creb3l1 (Mus musculus - house mouse) |
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Creb3l1 (Rattus norvegicus - Norway rat) |
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Creb3l1 (Chinchilla lanigera - long-tailed chinchilla) |
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CREB3L1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CREB3L1 (Canis lupus familiaris - dog) |
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Creb3l1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CREB3L1 (Sus scrofa - pig) |
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CREB3L1 (Chlorocebus sabaeus - green monkey) |
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Creb3l1 (Heterocephalus glaber - naked mole-rat) |
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Variants in CREB3L1
263 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1 | copy number loss | See cases [RCV000052679] | Chr11:35663578..46959820 [GRCh38] Chr11:35685126..46981371 [GRCh37] Chr11:35641702..46937947 [NCBI36] Chr11:11p13-11.2 |
pathogenic |
GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] | Chr11:36508280..48643003 [GRCh38] Chr11:36529830..48664555 [GRCh37] Chr11:36486406..48621131 [NCBI36] Chr11:11p12-11.2 |
pathogenic |
NM_052854.3(CREB3L1):c.908C>T (p.Ser303Leu) | single nucleotide variant | Malignant melanoma [RCV000069366] | Chr11:46312616 [GRCh38] Chr11:46334167 [GRCh37] Chr11:46290743 [NCBI36] Chr11:11p11.2 |
not provided |
GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 | copy number loss | See cases [RCV000137391] | Chr11:39179252..49135735 [GRCh38] Chr11:39200802..49157287 [GRCh37] Chr11:39157378..49113863 [NCBI36] Chr11:11p12-11.12 |
pathogenic |
GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 | copy number loss | See cases [RCV000135405] | Chr11:41118322..48643003 [GRCh38] Chr11:41139872..48664555 [GRCh37] Chr11:41096448..48621131 [NCBI36] Chr11:11p12-11.2 |
pathogenic |
GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 | copy number gain | See cases [RCV000139422] | Chr11:42727555..49135735 [GRCh38] Chr11:42749105..49157287 [GRCh37] Chr11:42705681..49113863 [NCBI36] Chr11:11p12-11.12 |
likely pathogenic |
NM_052854.4(CREB3L1):c.516+4A>G | single nucleotide variant | CREB3L1-related condition [RCV003969065] | Chr11:46308004 [GRCh38] Chr11:46329555 [GRCh37] Chr11:11p11.2 |
likely benign |
GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 | copy number loss | See cases [RCV000446383] | Chr11:42475897..48372559 [GRCh37] Chr11:11p12-11.2 |
pathogenic |
GRCh37/hg19 11p11.2(chr11:45873733-46409298)x1 | copy number loss | See cases [RCV000446153] | Chr11:45873733..46409298 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 | copy number gain | See cases [RCV000448603] | Chr11:26574629..50508019 [GRCh37] Chr11:11p14.2-11.12 |
pathogenic |
NM_052854.3(CREB3L1):c.1525dup | duplication | Osteogenesis imperfecta type 16 [RCV001662387]|not provided [RCV001672752]|not specified [RCV000455306] | Chr11:46320708..46320709 [GRCh38] Chr11:46342259..46342260 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.488C>G (p.Pro163Arg) | single nucleotide variant | Osteogenesis imperfecta type 16 [RCV000763743]|not provided [RCV000498256] | Chr11:46307972 [GRCh38] Chr11:46329523 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.46G>T (p.Gly16Ter) | single nucleotide variant | not provided [RCV000498875] | Chr11:46278157 [GRCh38] Chr11:46299708 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1109C>T (p.Thr370Ile) | single nucleotide variant | not provided [RCV000497336]|not specified [RCV003488637] | Chr11:46316363 [GRCh38] Chr11:46337914 [GRCh37] Chr11:11p11.2 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 | copy number gain | See cases [RCV000510881] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) | copy number gain | See cases [RCV000511729] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_052854.4(CREB3L1):c.928AAG[2] (p.Lys312del) | microsatellite | Osteogenesis imperfecta [RCV000754794]|Osteogenesis imperfecta type 16 [RCV000677179] | Chr11:46312636..46312638 [GRCh38] Chr11:46334187..46334189 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_052854.4(CREB3L1):c.1284C>A (p.Tyr428Ter) | single nucleotide variant | Osteogenesis imperfecta type 16 [RCV000677180] | Chr11:46320289 [GRCh38] Chr11:46341840 [GRCh37] Chr11:11p11.2 |
pathogenic |
Single allele | duplication | Global developmental delay [RCV000677110] | Chr11:46315434..46629277 [GRCh37] Chr11:11p11.2 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 | copy number gain | not provided [RCV000737348] | Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p11.2(chr11:45229091-46342834)x3 | copy number gain | not provided [RCV000750026] | Chr11:45229091..46342834 [GRCh37] Chr11:11p11.2 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 | copy number gain | not provided [RCV000749874] | Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p11.2(chr11:46302171-46783079)x3 | copy number gain | not provided [RCV000846414] | Chr11:46302171..46783079 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.516+9G>A | single nucleotide variant | not provided [RCV000897290] | Chr11:46308009 [GRCh38] Chr11:46329560 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.294C>T (p.Ser98=) | single nucleotide variant | not provided [RCV000897325] | Chr11:46300126 [GRCh38] Chr11:46321677 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.753C>T (p.His251=) | single nucleotide variant | not provided [RCV000891649] | Chr11:46311189 [GRCh38] Chr11:46332740 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.357G>A (p.Leu119=) | single nucleotide variant | not provided [RCV000940536] | Chr11:46307841 [GRCh38] Chr11:46329392 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1185C>T (p.Pro395=) | single nucleotide variant | not provided [RCV000907286] | Chr11:46317414 [GRCh38] Chr11:46338965 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.1547T>G (p.Ile516Ser) | single nucleotide variant | not provided [RCV000949773]|not specified [RCV001796323] | Chr11:46320733 [GRCh38] Chr11:46342283 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.599A>T (p.Asp200Val) | single nucleotide variant | CREB3L1-related condition [RCV003920559]|Osteogenesis imperfecta type 16 [RCV001334433]|not provided [RCV000881913] | Chr11:46311035 [GRCh38] Chr11:46332586 [GRCh37] Chr11:11p11.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_052854.4(CREB3L1):c.957A>G (p.Glu319=) | single nucleotide variant | not provided [RCV000969066] | Chr11:46312665 [GRCh38] Chr11:46334216 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.1333A>G (p.Met445Val) | single nucleotide variant | CREB3L1-related condition [RCV003910705]|not provided [RCV000898142] | Chr11:46320338 [GRCh38] Chr11:46341889 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_052854.4(CREB3L1):c.1325T>G (p.Leu442Arg) | single nucleotide variant | CREB3L1-related condition [RCV003913094]|not provided [RCV000920892] | Chr11:46320330 [GRCh38] Chr11:46341881 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.1117G>A (p.Gly373Arg) | single nucleotide variant | not provided [RCV000904892] | Chr11:46316371 [GRCh38] Chr11:46337922 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_052854.4(CREB3L1):c.1290C>T (p.Asp430=) | single nucleotide variant | not provided [RCV000929148] | Chr11:46320295 [GRCh38] Chr11:46341846 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.651C>T (p.Asp217=) | single nucleotide variant | not provided [RCV000888355] | Chr11:46311087 [GRCh38] Chr11:46332638 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.717G>A (p.Thr239=) | single nucleotide variant | not provided [RCV000888521] | Chr11:46311153 [GRCh38] Chr11:46332704 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1194C>T (p.Ser398=) | single nucleotide variant | CREB3L1-related condition [RCV003910560]|not provided [RCV000889833] | Chr11:46317423 [GRCh38] Chr11:46338974 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_052854.4(CREB3L1):c.1523+6del | deletion | Osteogenesis imperfecta type 16 [RCV001664561]|not provided [RCV000947343] | Chr11:46320531 [GRCh38] Chr11:46342082 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.774del (p.Pro259fs) | deletion | Osteogenesis imperfecta type 16 [RCV001196385] | Chr11:46312343 [GRCh38] Chr11:46333894 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_052854.4(CREB3L1):c.911C>T (p.Ala304Val) | single nucleotide variant | Osteogenesis imperfecta type 16 [RCV001262123] | Chr11:46312619 [GRCh38] Chr11:46334170 [GRCh37] Chr11:11p11.2 |
pathogenic |
GRCh37/hg19 11p11.2(chr11:45995260-46536343)x1 | copy number loss | not provided [RCV001259091] | Chr11:45995260..46536343 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
GRCh37/hg19 11p11.2(chr11:46123974-46442526)x3 | copy number gain | not provided [RCV001259093] | Chr11:46123974..46442526 [GRCh37] Chr11:11p11.2 |
uncertain significance |
Single allele | deletion | Intellectual disability [RCV001293382] | Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3 |
pathogenic |
NC_000011.9:g.(?_45827353)_(47804770_?)dup | duplication | Leukocyte adhesion deficiency type II [RCV001296459] | Chr11:45827353..47804770 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.516+234C>T | single nucleotide variant | not provided [RCV001574437] | Chr11:46308234 [GRCh38] Chr11:46329785 [GRCh37] Chr11:11p11.2 |
likely benign |
NC_000011.10:g.46277541A>C | single nucleotide variant | not provided [RCV001556813] | Chr11:46277541 [GRCh38] Chr11:46299092 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.516+197G>A | single nucleotide variant | not provided [RCV001610249] | Chr11:46308197 [GRCh38] Chr11:46329748 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.753+250T>G | single nucleotide variant | not provided [RCV001552519] | Chr11:46311439 [GRCh38] Chr11:46332990 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.716C>T (p.Thr239Met) | single nucleotide variant | not provided [RCV001665657] | Chr11:46311152 [GRCh38] Chr11:46332703 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.*22T>C | single nucleotide variant | not provided [RCV001559486] | Chr11:46320768 [GRCh38] Chr11:46342318 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.*80C>T | single nucleotide variant | not provided [RCV001566559] | Chr11:46320826 [GRCh38] Chr11:46342376 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1258+56C>T | single nucleotide variant | not provided [RCV001565281] | Chr11:46317543 [GRCh38] Chr11:46339094 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1258+146C>T | single nucleotide variant | not provided [RCV001540448] | Chr11:46317633 [GRCh38] Chr11:46339184 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.1131+116G>T | single nucleotide variant | not provided [RCV001645656] | Chr11:46316501 [GRCh38] Chr11:46338052 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.595+189TTTG[7] | microsatellite | not provided [RCV001641492] | Chr11:46310255..46310256 [GRCh38] Chr11:46331806..46331807 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.1105G>A (p.Ala369Thr) | single nucleotide variant | not provided [RCV001574134] | Chr11:46316359 [GRCh38] Chr11:46337910 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1231G>A (p.Ala411Thr) | single nucleotide variant | not provided [RCV001611101] | Chr11:46317460 [GRCh38] Chr11:46339011 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.1131+180T>C | single nucleotide variant | not provided [RCV001576953] | Chr11:46316565 [GRCh38] Chr11:46338116 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.595+180T>G | single nucleotide variant | not provided [RCV001569583] | Chr11:46310247 [GRCh38] Chr11:46331798 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1258+77G>A | single nucleotide variant | not provided [RCV001536446] | Chr11:46317564 [GRCh38] Chr11:46339115 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1258+248G>A | single nucleotide variant | not provided [RCV001583974] | Chr11:46317735 [GRCh38] Chr11:46339286 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.274G>A (p.Gly92Ser) | single nucleotide variant | Inborn genetic diseases [RCV002573282]|not provided [RCV001584899] | Chr11:46300106 [GRCh38] Chr11:46321657 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1032-233T>C | single nucleotide variant | not provided [RCV001691685] | Chr11:46316053 [GRCh38] Chr11:46337604 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.435G>A (p.Ser145=) | single nucleotide variant | not provided [RCV001571482] | Chr11:46307919 [GRCh38] Chr11:46329470 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_052854.4(CREB3L1):c.454G>A (p.Ala152Thr) | single nucleotide variant | Osteogenesis imperfecta type 16 [RCV003754909]|not provided [RCV001573120]|not specified [RCV001579648] | Chr11:46307938 [GRCh38] Chr11:46329489 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_052854.4(CREB3L1):c.1031+226C>T | single nucleotide variant | not provided [RCV001569442] | Chr11:46313145 [GRCh38] Chr11:46334696 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.753+153T>G | single nucleotide variant | not provided [RCV001643240] | Chr11:46311342 [GRCh38] Chr11:46332893 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.331+113A>C | single nucleotide variant | not provided [RCV001617337] | Chr11:46300276 [GRCh38] Chr11:46321827 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.595+263C>T | single nucleotide variant | not provided [RCV001615852] | Chr11:46310330 [GRCh38] Chr11:46331881 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.1197C>T (p.Ser399=) | single nucleotide variant | not provided [RCV001595705] | Chr11:46317426 [GRCh38] Chr11:46338977 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.754-219G>A | single nucleotide variant | not provided [RCV001595714] | Chr11:46312106 [GRCh38] Chr11:46333657 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.-354C>G | single nucleotide variant | not provided [RCV001661057] | Chr11:46277758 [GRCh38] Chr11:46299309 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.962+18G>A | single nucleotide variant | not provided [RCV001608556] | Chr11:46312688 [GRCh38] Chr11:46334239 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.1259-285T>C | single nucleotide variant | not provided [RCV001596597] | Chr11:46319979 [GRCh38] Chr11:46341530 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1524-51G>A | single nucleotide variant | not provided [RCV001620400] | Chr11:46320659 [GRCh38] Chr11:46342210 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.596-225C>G | single nucleotide variant | not provided [RCV001648542] | Chr11:46310807 [GRCh38] Chr11:46332358 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.517-178G>T | single nucleotide variant | not provided [RCV001621486] | Chr11:46309811 [GRCh38] Chr11:46331362 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.516+287A>G | single nucleotide variant | not provided [RCV001589441] | Chr11:46308287 [GRCh38] Chr11:46329838 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.516+284A>G | single nucleotide variant | not provided [RCV001654019] | Chr11:46308284 [GRCh38] Chr11:46329835 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.596-79T>C | single nucleotide variant | not provided [RCV001687751] | Chr11:46310953 [GRCh38] Chr11:46332504 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.1131+100G>A | single nucleotide variant | not provided [RCV001587836] | Chr11:46316485 [GRCh38] Chr11:46338036 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.103-251C>G | single nucleotide variant | not provided [RCV001620989] | Chr11:46299684 [GRCh38] Chr11:46321235 [GRCh37] Chr11:11p11.2 |
benign |
GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1 | copy number loss | not provided [RCV001836486] | Chr11:40117145..46920718 [GRCh37] Chr11:11p12-11.2 |
pathogenic |
NM_052854.4(CREB3L1):c.753+1G>A | single nucleotide variant | not provided [RCV001868858] | Chr11:46311190 [GRCh38] Chr11:46332741 [GRCh37] Chr11:11p11.2 |
likely pathogenic |
NM_052854.4(CREB3L1):c.1496C>A (p.Ser499Tyr) | single nucleotide variant | not provided [RCV001927400] | Chr11:46320501 [GRCh38] Chr11:46342052 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.652G>C (p.Gly218Arg) | single nucleotide variant | not provided [RCV002021647] | Chr11:46311088 [GRCh38] Chr11:46332639 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.858C>A (p.Ala286=) | single nucleotide variant | not provided [RCV001912526] | Chr11:46312429 [GRCh38] Chr11:46333980 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1489G>A (p.Asp497Asn) | single nucleotide variant | not provided [RCV001985037] | Chr11:46320494 [GRCh38] Chr11:46342045 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1512G>T (p.Trp504Cys) | single nucleotide variant | Inborn genetic diseases [RCV004043157]|not provided [RCV001967949] | Chr11:46320517 [GRCh38] Chr11:46342068 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.277G>A (p.Asp93Asn) | single nucleotide variant | not provided [RCV001863889] | Chr11:46300109 [GRCh38] Chr11:46321660 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1429G>A (p.Glu477Lys) | single nucleotide variant | Inborn genetic diseases [RCV003264193]|not provided [RCV001910970] | Chr11:46320434 [GRCh38] Chr11:46341985 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.401C>G (p.Pro134Arg) | single nucleotide variant | Inborn genetic diseases [RCV004043126]|not provided [RCV001950512] | Chr11:46307885 [GRCh38] Chr11:46329436 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.753+72dup | duplication | not provided [RCV001840871] | Chr11:46311260..46311261 [GRCh38] Chr11:46332811..46332812 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.904-5_904-4delinsAT | indel | not provided [RCV002021498] | Chr11:46312607..46312608 [GRCh38] Chr11:46334158..46334159 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1549A>G (p.Lys517Glu) | single nucleotide variant | not provided [RCV002005866] | Chr11:46320735 [GRCh38] Chr11:46342285 [GRCh37] Chr11:11p11.2 |
uncertain significance |
GRCh37/hg19 11p11.2(chr11:46248477-46748132) | copy number loss | not specified [RCV002052926] | Chr11:46248477..46748132 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.276C>T (p.Gly92=) | single nucleotide variant | not provided [RCV001911067] | Chr11:46300108 [GRCh38] Chr11:46321659 [GRCh37] Chr11:11p11.2 |
likely benign|uncertain significance |
NM_052854.4(CREB3L1):c.820G>A (p.Gly274Ser) | single nucleotide variant | not provided [RCV001893868] | Chr11:46312391 [GRCh38] Chr11:46333942 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.494C>T (p.Ser165Phe) | single nucleotide variant | Inborn genetic diseases [RCV004042860]|not provided [RCV001916168] | Chr11:46307978 [GRCh38] Chr11:46329529 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1178G>A (p.Cys393Tyr) | single nucleotide variant | not provided [RCV001935475] | Chr11:46317407 [GRCh38] Chr11:46338958 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.636T>A (p.His212Gln) | single nucleotide variant | not provided [RCV002015152] | Chr11:46311072 [GRCh38] Chr11:46332623 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.284C>T (p.Ala95Val) | single nucleotide variant | Osteogenesis imperfecta type 16 [RCV003146363]|not provided [RCV001954822] | Chr11:46300116 [GRCh38] Chr11:46321667 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.448G>A (p.Ala150Thr) | single nucleotide variant | not provided [RCV001903267] | Chr11:46307932 [GRCh38] Chr11:46329483 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1391G>A (p.Arg464Gln) | single nucleotide variant | not provided [RCV001917716] | Chr11:46320396 [GRCh38] Chr11:46341947 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NC_000011.9:g.(?_45827353)_(46401497_?)del | deletion | Peroxisome biogenesis disorder [RCV001953896] | Chr11:45827353..46401497 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_052854.4(CREB3L1):c.1449T>A (p.Ser483Arg) | single nucleotide variant | not provided [RCV001918708] | Chr11:46320454 [GRCh38] Chr11:46342005 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.512A>C (p.His171Pro) | single nucleotide variant | not provided [RCV002049228] | Chr11:46307996 [GRCh38] Chr11:46329547 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.565G>A (p.Glu189Lys) | single nucleotide variant | not provided [RCV001897689] | Chr11:46310037 [GRCh38] Chr11:46331588 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1462A>G (p.Lys488Glu) | single nucleotide variant | not provided [RCV001919200] | Chr11:46320467 [GRCh38] Chr11:46342018 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1523+5_1523+6insTGTGTGGCCCCTTTG | microsatellite | not provided [RCV001864901] | Chr11:46320532..46320533 [GRCh38] Chr11:46342083..46342084 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1546A>G (p.Ile516Val) | single nucleotide variant | not provided [RCV001899461] | Chr11:46320732 [GRCh38] Chr11:46342282 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1097A>T (p.Lys366Met) | single nucleotide variant | not provided [RCV002026673] | Chr11:46316351 [GRCh38] Chr11:46337902 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.736C>G (p.Leu246Val) | single nucleotide variant | not provided [RCV001920422] | Chr11:46311172 [GRCh38] Chr11:46332723 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1390C>T (p.Arg464Trp) | single nucleotide variant | not provided [RCV002027568] | Chr11:46320395 [GRCh38] Chr11:46341946 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.753+11G>A | single nucleotide variant | not provided [RCV002125242] | Chr11:46311200 [GRCh38] Chr11:46332751 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1230C>T (p.Ala410=) | single nucleotide variant | not provided [RCV002125585] | Chr11:46317459 [GRCh38] Chr11:46339010 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NC_000011.9:g.(?_46318032)_(46761066_?)dup | duplication | not provided [RCV001997118] | Chr11:46318032..46761066 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1315C>T (p.Arg439Cys) | single nucleotide variant | not provided [RCV002034361] | Chr11:46320320 [GRCh38] Chr11:46341871 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.706C>T (p.Arg236Cys) | single nucleotide variant | not provided [RCV001887539] | Chr11:46311142 [GRCh38] Chr11:46332693 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.402G>A (p.Pro134=) | single nucleotide variant | not provided [RCV001941490] | Chr11:46307886 [GRCh38] Chr11:46329437 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.707G>A (p.Arg236His) | single nucleotide variant | Inborn genetic diseases [RCV002545536]|not provided [RCV002016063] | Chr11:46311143 [GRCh38] Chr11:46332694 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1231G>T (p.Ala411Ser) | single nucleotide variant | not provided [RCV001996603] | Chr11:46317460 [GRCh38] Chr11:46339011 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.236C>T (p.Thr79Met) | single nucleotide variant | Inborn genetic diseases [RCV002556439]|not provided [RCV001923511] | Chr11:46300068 [GRCh38] Chr11:46321619 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.211T>A (p.Leu71Met) | single nucleotide variant | Inborn genetic diseases [RCV004046968]|not provided [RCV002038446] | Chr11:46300043 [GRCh38] Chr11:46321594 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.521C>T (p.Pro174Leu) | single nucleotide variant | not provided [RCV001937720] | Chr11:46309993 [GRCh38] Chr11:46331544 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.506T>C (p.Ile169Thr) | single nucleotide variant | not provided [RCV001888626] | Chr11:46307990 [GRCh38] Chr11:46329541 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.103-3454C>G | single nucleotide variant | not provided [RCV002124724] | Chr11:46296481 [GRCh38] Chr11:46318032 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.273C>T (p.Ser91=) | single nucleotide variant | not provided [RCV002165384] | Chr11:46300105 [GRCh38] Chr11:46321656 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.472C>G (p.Leu158Val) | single nucleotide variant | not provided [RCV001978980] | Chr11:46307956 [GRCh38] Chr11:46329507 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.922C>T (p.Arg308Cys) | single nucleotide variant | not provided [RCV002001271] | Chr11:46312630 [GRCh38] Chr11:46334181 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.600C>T (p.Asp200=) | single nucleotide variant | not provided [RCV002105684] | Chr11:46311036 [GRCh38] Chr11:46332587 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.532A>G (p.Thr178Ala) | single nucleotide variant | not provided [RCV001944883] | Chr11:46310004 [GRCh38] Chr11:46331555 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.701T>C (p.Met234Thr) | single nucleotide variant | not provided [RCV001904195] | Chr11:46311137 [GRCh38] Chr11:46332688 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1541C>A (p.Thr514Asn) | single nucleotide variant | CREB3L1-related condition [RCV003960872]|not provided [RCV002146582] | Chr11:46320727 [GRCh38] Chr11:46342277 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.918G>A (p.Glu306=) | single nucleotide variant | CREB3L1-related condition [RCV003958705]|not provided [RCV002109525] | Chr11:46312626 [GRCh38] Chr11:46334177 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.252G>A (p.Ala84=) | single nucleotide variant | not provided [RCV002194494] | Chr11:46300084 [GRCh38] Chr11:46321635 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1132-20C>T | single nucleotide variant | not provided [RCV002208170] | Chr11:46317341 [GRCh38] Chr11:46338892 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.63C>T (p.Asp21=) | single nucleotide variant | not provided [RCV002193290] | Chr11:46278174 [GRCh38] Chr11:46299725 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1365C>T (p.Pro455=) | single nucleotide variant | not provided [RCV002211779] | Chr11:46320370 [GRCh38] Chr11:46341921 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1524-4C>T | single nucleotide variant | not provided [RCV002089748] | Chr11:46320706 [GRCh38] Chr11:46342257 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.450G>A (p.Ala150=) | single nucleotide variant | not provided [RCV002172415] | Chr11:46307934 [GRCh38] Chr11:46329485 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.331+17C>A | single nucleotide variant | not provided [RCV002153213] | Chr11:46300180 [GRCh38] Chr11:46321731 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.904-17C>T | single nucleotide variant | not provided [RCV002196205] | Chr11:46312595 [GRCh38] Chr11:46334146 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.962+20T>A | single nucleotide variant | not provided [RCV002134922] | Chr11:46312690 [GRCh38] Chr11:46334241 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.36G>A (p.Arg12=) | single nucleotide variant | not provided [RCV002134120] | Chr11:46278147 [GRCh38] Chr11:46299698 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.595+13A>G | single nucleotide variant | not provided [RCV002080787] | Chr11:46310080 [GRCh38] Chr11:46331631 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.411C>T (p.Pro137=) | single nucleotide variant | not provided [RCV002169003] | Chr11:46307895 [GRCh38] Chr11:46329446 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.429C>T (p.Ala143=) | single nucleotide variant | not provided [RCV002148889] | Chr11:46307913 [GRCh38] Chr11:46329464 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.883C>A (p.Arg295=) | single nucleotide variant | not provided [RCV002114480] | Chr11:46312454 [GRCh38] Chr11:46334005 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.78C>T (p.Asn26=) | single nucleotide variant | not provided [RCV002134792] | Chr11:46278189 [GRCh38] Chr11:46299740 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.618G>A (p.Pro206=) | single nucleotide variant | not provided [RCV002118303] | Chr11:46311054 [GRCh38] Chr11:46332605 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1259-13A>G | single nucleotide variant | Osteogenesis imperfecta type 16 [RCV003754929]|not provided [RCV002137939] | Chr11:46320251 [GRCh38] Chr11:46341802 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.903+13A>T | single nucleotide variant | not provided [RCV002139758] | Chr11:46312487 [GRCh38] Chr11:46334038 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.102+8G>A | single nucleotide variant | not provided [RCV002177917] | Chr11:46278221 [GRCh38] Chr11:46299772 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.762G>A (p.Gln254=) | single nucleotide variant | not provided [RCV002160346] | Chr11:46312333 [GRCh38] Chr11:46333884 [GRCh37] Chr11:11p11.2 |
benign |
NM_052854.4(CREB3L1):c.1449T>C (p.Ser483=) | single nucleotide variant | not provided [RCV002138790] | Chr11:46320454 [GRCh38] Chr11:46342005 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.903+16C>A | single nucleotide variant | not provided [RCV002135563] | Chr11:46312490 [GRCh38] Chr11:46334041 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1428C>T (p.His476=) | single nucleotide variant | not provided [RCV002201257] | Chr11:46320433 [GRCh38] Chr11:46341984 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.463A>C (p.Thr155Pro) | single nucleotide variant | CREB3L1-related condition [RCV003911302]|not provided [RCV002220830]|not specified [RCV003994388] | Chr11:46307947 [GRCh38] Chr11:46329498 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_052854.4(CREB3L1):c.1186G>T (p.Glu396Ter) | single nucleotide variant | Osteogenesis imperfecta type 16 [RCV002250968] | Chr11:46317415 [GRCh38] Chr11:46338966 [GRCh37] Chr11:11p11.2 |
pathogenic |
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 | copy number gain | MISSED ABORTION [RCV002282973] | Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25 |
pathogenic |
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 | copy number gain | See cases [RCV002286338] | Chr11:51581311..54891247 [GRCh37] Chr11:11p11.2-q12.2 |
pathogenic |
NM_052854.4(CREB3L1):c.1370G>C (p.Gly457Ala) | single nucleotide variant | not provided [RCV003012271] | Chr11:46320375 [GRCh38] Chr11:46341926 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.773G>A (p.Gly258Glu) | single nucleotide variant | not provided [RCV002838827] | Chr11:46312344 [GRCh38] Chr11:46333895 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.640A>T (p.Ser214Cys) | single nucleotide variant | not provided [RCV002991565] | Chr11:46311076 [GRCh38] Chr11:46332627 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1268G>A (p.Arg423Gln) | single nucleotide variant | Inborn genetic diseases [RCV002836844] | Chr11:46320273 [GRCh38] Chr11:46341824 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.635A>G (p.His212Arg) | single nucleotide variant | Inborn genetic diseases [RCV002685090]|Osteogenesis imperfecta type 16 [RCV003992734] | Chr11:46311071 [GRCh38] Chr11:46332622 [GRCh37] Chr11:11p11.2 |
likely benign|uncertain significance |
NM_052854.4(CREB3L1):c.458T>G (p.Met153Arg) | single nucleotide variant | Inborn genetic diseases [RCV002974644] | Chr11:46307942 [GRCh38] Chr11:46329493 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.335C>T (p.Ala112Val) | single nucleotide variant | not provided [RCV002818964] | Chr11:46307819 [GRCh38] Chr11:46329370 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1239C>G (p.Gly413=) | single nucleotide variant | not provided [RCV002972584] | Chr11:46317468 [GRCh38] Chr11:46339019 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1073C>G (p.Thr358Ser) | single nucleotide variant | not provided [RCV002686240] | Chr11:46316327 [GRCh38] Chr11:46337878 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.312G>A (p.Lys104=) | single nucleotide variant | not provided [RCV002881535] | Chr11:46300144 [GRCh38] Chr11:46321695 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.820G>T (p.Gly274Cys) | single nucleotide variant | not provided [RCV003033692] | Chr11:46312391 [GRCh38] Chr11:46333942 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1506G>A (p.Lys502=) | single nucleotide variant | not provided [RCV002616751] | Chr11:46320511 [GRCh38] Chr11:46342062 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1476C>T (p.Asn492=) | single nucleotide variant | not provided [RCV002794957] | Chr11:46320481 [GRCh38] Chr11:46342032 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1334T>C (p.Met445Thr) | single nucleotide variant | not provided [RCV003097626] | Chr11:46320339 [GRCh38] Chr11:46341890 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.517-17G>A | single nucleotide variant | not provided [RCV002862161] | Chr11:46309972 [GRCh38] Chr11:46331523 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.272G>C (p.Ser91Thr) | single nucleotide variant | not provided [RCV002618049] | Chr11:46300104 [GRCh38] Chr11:46321655 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.621G>A (p.Thr207=) | single nucleotide variant | CREB3L1-related condition [RCV003906439]|not provided [RCV002999579] | Chr11:46311057 [GRCh38] Chr11:46332608 [GRCh37] Chr11:11p11.2 |
benign|likely benign |
NM_052854.4(CREB3L1):c.332-5C>A | single nucleotide variant | not provided [RCV003053621] | Chr11:46307811 [GRCh38] Chr11:46329362 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1257G>A (p.Gln419=) | single nucleotide variant | not provided [RCV002621199] | Chr11:46317486 [GRCh38] Chr11:46339037 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.387G>A (p.Lys129=) | single nucleotide variant | not provided [RCV002591376] | Chr11:46307871 [GRCh38] Chr11:46329422 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.445G>C (p.Ala149Pro) | single nucleotide variant | Inborn genetic diseases [RCV002924118] | Chr11:46307929 [GRCh38] Chr11:46329480 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.434C>T (p.Ser145Leu) | single nucleotide variant | Inborn genetic diseases [RCV003000652]|Teratoma [RCV003221366] | Chr11:46307918 [GRCh38] Chr11:46329469 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.903+14C>T | single nucleotide variant | not provided [RCV003019906] | Chr11:46312488 [GRCh38] Chr11:46334039 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1161G>A (p.Leu387=) | single nucleotide variant | not provided [RCV002637077] | Chr11:46317390 [GRCh38] Chr11:46338941 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1205A>G (p.Gln402Arg) | single nucleotide variant | Inborn genetic diseases [RCV002694225] | Chr11:46317434 [GRCh38] Chr11:46338985 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.847C>T (p.Leu283Phe) | single nucleotide variant | not provided [RCV002796619] | Chr11:46312418 [GRCh38] Chr11:46333969 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.440T>A (p.Met147Lys) | single nucleotide variant | Inborn genetic diseases [RCV002759110] | Chr11:46307924 [GRCh38] Chr11:46329475 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.291G>A (p.Gln97=) | single nucleotide variant | not provided [RCV002690832] | Chr11:46300123 [GRCh38] Chr11:46321674 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.683C>G (p.Ser228Cys) | single nucleotide variant | not provided [RCV002621457] | Chr11:46311119 [GRCh38] Chr11:46332670 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.446C>A (p.Ala149Asp) | single nucleotide variant | Inborn genetic diseases [RCV002660627] | Chr11:46307930 [GRCh38] Chr11:46329481 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1452G>C (p.Glu484Asp) | single nucleotide variant | Inborn genetic diseases [RCV002949235]|not provided [RCV002949234] | Chr11:46320457 [GRCh38] Chr11:46342008 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.903+15C>T | single nucleotide variant | not provided [RCV002593237] | Chr11:46312489 [GRCh38] Chr11:46334040 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.602T>C (p.Leu201Pro) | single nucleotide variant | not provided [RCV002592397] | Chr11:46311038 [GRCh38] Chr11:46332589 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1283A>C (p.Tyr428Ser) | single nucleotide variant | not provided [RCV002706123] | Chr11:46320288 [GRCh38] Chr11:46341839 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.27G>A (p.Pro9=) | single nucleotide variant | not provided [RCV002706746] | Chr11:46278138 [GRCh38] Chr11:46299689 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1317C>T (p.Arg439=) | single nucleotide variant | not provided [RCV002954351] | Chr11:46320322 [GRCh38] Chr11:46341873 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.990T>C (p.Asn330=) | single nucleotide variant | not provided [RCV002766541] | Chr11:46312878 [GRCh38] Chr11:46334429 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1477G>A (p.Gly493Ser) | single nucleotide variant | not provided [RCV002957493] | Chr11:46320482 [GRCh38] Chr11:46342033 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1380G>A (p.Glu460=) | single nucleotide variant | not provided [RCV002711823] | Chr11:46320385 [GRCh38] Chr11:46341936 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.332-13C>T | single nucleotide variant | not provided [RCV002790280] | Chr11:46307803 [GRCh38] Chr11:46329354 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.667C>T (p.Arg223Cys) | single nucleotide variant | Inborn genetic diseases [RCV002641958]|Osteogenesis imperfecta type 16 [RCV003755006]|not provided [RCV003319547] | Chr11:46311103 [GRCh38] Chr11:46332654 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1131+14C>T | single nucleotide variant | not provided [RCV002573667] | Chr11:46316399 [GRCh38] Chr11:46337950 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1388C>T (p.Pro463Leu) | single nucleotide variant | Inborn genetic diseases [RCV002581583]|not provided [RCV002574441] | Chr11:46320393 [GRCh38] Chr11:46341944 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.103-18C>T | single nucleotide variant | not provided [RCV003023426] | Chr11:46299917 [GRCh38] Chr11:46321468 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.526G>A (p.Glu176Lys) | single nucleotide variant | not provided [RCV002595893] | Chr11:46309998 [GRCh38] Chr11:46331549 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1223C>T (p.Pro408Leu) | single nucleotide variant | not provided [RCV002574371] | Chr11:46317452 [GRCh38] Chr11:46339003 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.457A>T (p.Met153Leu) | single nucleotide variant | not provided [RCV003009173] | Chr11:46307941 [GRCh38] Chr11:46329492 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.899A>G (p.Asn300Ser) | single nucleotide variant | not provided [RCV003044120] | Chr11:46312470 [GRCh38] Chr11:46334021 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.878del (p.Arg293fs) | deletion | not provided [RCV002597951] | Chr11:46312449 [GRCh38] Chr11:46334000 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_052854.4(CREB3L1):c.354G>A (p.Ala118=) | single nucleotide variant | not provided [RCV003085255] | Chr11:46307838 [GRCh38] Chr11:46329389 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.453C>T (p.Ala151=) | single nucleotide variant | not provided [RCV002627247] | Chr11:46307937 [GRCh38] Chr11:46329488 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.20C>A (p.Pro7His) | single nucleotide variant | not provided [RCV002770233] | Chr11:46278131 [GRCh38] Chr11:46299682 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1504A>C (p.Lys502Gln) | single nucleotide variant | Inborn genetic diseases [RCV002714450] | Chr11:46320509 [GRCh38] Chr11:46342060 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.104A>G (p.His35Arg) | single nucleotide variant | not provided [RCV002805871] | Chr11:46299936 [GRCh38] Chr11:46321487 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.726C>A (p.Ser242=) | single nucleotide variant | not provided [RCV002791161] | Chr11:46311162 [GRCh38] Chr11:46332713 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.184C>T (p.Pro62Ser) | single nucleotide variant | Inborn genetic diseases [RCV002644919] | Chr11:46300016 [GRCh38] Chr11:46321567 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1394A>C (p.Asp465Ala) | single nucleotide variant | Inborn genetic diseases [RCV002718616] | Chr11:46320399 [GRCh38] Chr11:46341950 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.331+18C>T | single nucleotide variant | not provided [RCV002899754] | Chr11:46300181 [GRCh38] Chr11:46321732 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1387C>A (p.Pro463Thr) | single nucleotide variant | not provided [RCV002601316] | Chr11:46320392 [GRCh38] Chr11:46341943 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1259-19T>A | single nucleotide variant | not provided [RCV002857463] | Chr11:46320245 [GRCh38] Chr11:46341796 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.9C>A (p.Ala3=) | single nucleotide variant | not provided [RCV002770819] | Chr11:46278120 [GRCh38] Chr11:46299671 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.465C>T (p.Thr155=) | single nucleotide variant | not provided [RCV003045463] | Chr11:46307949 [GRCh38] Chr11:46329500 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1523+13G>A | single nucleotide variant | not provided [RCV003045491] | Chr11:46320541 [GRCh38] Chr11:46342092 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1076A>G (p.Asn359Ser) | single nucleotide variant | not provided [RCV003045805] | Chr11:46316330 [GRCh38] Chr11:46337881 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.67G>C (p.Gly23Arg) | single nucleotide variant | not provided [RCV003029329] | Chr11:46278178 [GRCh38] Chr11:46299729 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1247C>T (p.Thr416Met) | single nucleotide variant | not provided [RCV002671087] | Chr11:46317476 [GRCh38] Chr11:46339027 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.522G>A (p.Pro174=) | single nucleotide variant | not provided [RCV003063312] | Chr11:46309994 [GRCh38] Chr11:46331545 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1129A>G (p.Met377Val) | single nucleotide variant | not provided [RCV002578601] | Chr11:46316383 [GRCh38] Chr11:46337934 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.621G>T (p.Thr207=) | single nucleotide variant | not provided [RCV003045627] | Chr11:46311057 [GRCh38] Chr11:46332608 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1551A>G (p.Lys517=) | single nucleotide variant | not provided [RCV002962013] | Chr11:46320737 [GRCh38] Chr11:46342287 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1433C>T (p.Thr478Ile) | single nucleotide variant | not provided [RCV002725407] | Chr11:46320438 [GRCh38] Chr11:46341989 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.669C>T (p.Arg223=) | single nucleotide variant | not provided [RCV002587352] | Chr11:46311105 [GRCh38] Chr11:46332656 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.923G>T (p.Arg308Leu) | single nucleotide variant | not provided [RCV003031033] | Chr11:46312631 [GRCh38] Chr11:46334182 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1150G>T (p.Val384Phe) | single nucleotide variant | Inborn genetic diseases [RCV002607031]|not provided [RCV002607030] | Chr11:46317379 [GRCh38] Chr11:46338930 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.447C>T (p.Ala149=) | single nucleotide variant | not provided [RCV002607838] | Chr11:46307931 [GRCh38] Chr11:46329482 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.488C>T (p.Pro163Leu) | single nucleotide variant | Inborn genetic diseases [RCV002724353] | Chr11:46307972 [GRCh38] Chr11:46329523 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1076A>T (p.Asn359Ile) | single nucleotide variant | not provided [RCV002587210] | Chr11:46316330 [GRCh38] Chr11:46337881 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1513T>A (p.Phe505Ile) | single nucleotide variant | Inborn genetic diseases [RCV002583808]|not provided [RCV002583807] | Chr11:46320518 [GRCh38] Chr11:46342069 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.753+17G>A | single nucleotide variant | not provided [RCV002601732] | Chr11:46311206 [GRCh38] Chr11:46332757 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.705G>A (p.Ala235=) | single nucleotide variant | not provided [RCV002582958] | Chr11:46311141 [GRCh38] Chr11:46332692 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1259-34_1259-16del | deletion | not provided [RCV003031715] | Chr11:46320228..46320246 [GRCh38] Chr11:46341779..46341797 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.648C>T (p.Ser216=) | single nucleotide variant | not provided [RCV002602125] | Chr11:46311084 [GRCh38] Chr11:46332635 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1466A>G (p.Asp489Gly) | single nucleotide variant | not provided [RCV002942722] | Chr11:46320471 [GRCh38] Chr11:46342022 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1245C>T (p.Tyr415=) | single nucleotide variant | not provided [RCV002583013] | Chr11:46317474 [GRCh38] Chr11:46339025 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.596-8C>T | single nucleotide variant | not provided [RCV002721257] | Chr11:46311024 [GRCh38] Chr11:46332575 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.617C>T (p.Pro206Leu) | single nucleotide variant | not provided [RCV002943373] | Chr11:46311053 [GRCh38] Chr11:46332604 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.332A>T (p.Asp111Val) | single nucleotide variant | not provided [RCV002631964] | Chr11:46307816 [GRCh38] Chr11:46329367 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1259-14C>T | single nucleotide variant | Osteogenesis imperfecta type 16 [RCV003111580]|not provided [RCV002581341] | Chr11:46320250 [GRCh38] Chr11:46341801 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.943G>A (p.Val315Met) | single nucleotide variant | not provided [RCV002631791] | Chr11:46312651 [GRCh38] Chr11:46334202 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.627del (p.Ser210fs) | deletion | Osteogenesis imperfecta type 16 [RCV003145885] | Chr11:46311058 [GRCh38] Chr11:46332609 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.912C>T (p.Ala304=) | single nucleotide variant | not provided [RCV003113068] | Chr11:46312620 [GRCh38] Chr11:46334171 [GRCh37] Chr11:11p11.2 |
likely benign |
NC_000011.9:g.(?_45827353)_(47804770_?)del | deletion | Leukocyte adhesion deficiency type II [RCV003119908] | Chr11:45827353..47804770 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_052854.4(CREB3L1):c.1110C>G (p.Thr370=) | single nucleotide variant | not provided [RCV003106686] | Chr11:46316364 [GRCh38] Chr11:46337915 [GRCh37] Chr11:11p11.2 |
likely benign |
NC_000011.9:g.(?_46299663)_(46342296_?)dup | duplication | not provided [RCV003122978] | Chr11:46299663..46342296 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1171G>A (p.Val391Met) | single nucleotide variant | not provided [RCV003112656] | Chr11:46317400 [GRCh38] Chr11:46338951 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1373C>T (p.Pro458Leu) | single nucleotide variant | not provided [RCV002611562] | Chr11:46320378 [GRCh38] Chr11:46341929 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1240G>A (p.Val414Ile) | single nucleotide variant | not provided [RCV002590249] | Chr11:46317469 [GRCh38] Chr11:46339020 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.354G>T (p.Ala118=) | single nucleotide variant | not provided [RCV002609950] | Chr11:46307838 [GRCh38] Chr11:46329389 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.517-3C>T | single nucleotide variant | not provided [RCV003104258] | Chr11:46309986 [GRCh38] Chr11:46331537 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.652G>A (p.Gly218Ser) | single nucleotide variant | Inborn genetic diseases [RCV003216245] | Chr11:46311088 [GRCh38] Chr11:46332639 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.353C>T (p.Ala118Val) | single nucleotide variant | Inborn genetic diseases [RCV003244630] | Chr11:46307837 [GRCh38] Chr11:46329388 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.449C>T (p.Ala150Val) | single nucleotide variant | Inborn genetic diseases [RCV003192521] | Chr11:46307933 [GRCh38] Chr11:46329484 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.453C>A (p.Ala151=) | single nucleotide variant | not provided [RCV003334136] | Chr11:46307937 [GRCh38] Chr11:46329488 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.508C>T (p.Pro170Ser) | single nucleotide variant | Inborn genetic diseases [RCV003305002]|not provided [RCV003777097] | Chr11:46307992 [GRCh38] Chr11:46329543 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.133G>A (p.Glu45Lys) | single nucleotide variant | Inborn genetic diseases [RCV003276545] | Chr11:46299965 [GRCh38] Chr11:46321516 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.523G>A (p.Gly175Arg) | single nucleotide variant | not specified [RCV003331901] | Chr11:46309995 [GRCh38] Chr11:46331546 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.749del (p.Pro250fs) | deletion | CREB3L1-related condition [RCV003412279] | Chr11:46311182 [GRCh38] Chr11:46332733 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.238C>T (p.Pro80Ser) | single nucleotide variant | Inborn genetic diseases [RCV003362440] | Chr11:46300070 [GRCh38] Chr11:46321621 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.501G>A (p.Leu167=) | single nucleotide variant | not provided [RCV003570503] | Chr11:46307985 [GRCh38] Chr11:46329536 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1131+18C>A | single nucleotide variant | not provided [RCV003689648] | Chr11:46316403 [GRCh38] Chr11:46337954 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1446G>A (p.Leu482=) | single nucleotide variant | not provided [RCV003879044] | Chr11:46320451 [GRCh38] Chr11:46342002 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.924T>G (p.Arg308=) | single nucleotide variant | not provided [RCV003826207] | Chr11:46312632 [GRCh38] Chr11:46334183 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.802C>T (p.Arg268Trp) | single nucleotide variant | not provided [RCV003824990] | Chr11:46312373 [GRCh38] Chr11:46333924 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1524-17C>T | single nucleotide variant | not provided [RCV003548854] | Chr11:46320693 [GRCh38] Chr11:46342244 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.753+14G>C | single nucleotide variant | not provided [RCV003696236] | Chr11:46311203 [GRCh38] Chr11:46332754 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.261C>T (p.Ser87=) | single nucleotide variant | not provided [RCV003717473] | Chr11:46300093 [GRCh38] Chr11:46321644 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.904-7C>T | single nucleotide variant | not provided [RCV003674240] | Chr11:46312605 [GRCh38] Chr11:46334156 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.132G>A (p.Thr44=) | single nucleotide variant | Osteogenesis imperfecta type 16 [RCV003756650] | Chr11:46299964 [GRCh38] Chr11:46321515 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.969G>A (p.Glu323=) | single nucleotide variant | not provided [RCV003816521] | Chr11:46312857 [GRCh38] Chr11:46334408 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1170C>T (p.Leu390=) | single nucleotide variant | not provided [RCV003816679] | Chr11:46317399 [GRCh38] Chr11:46338950 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1032-4T>G | single nucleotide variant | not provided [RCV003729702] | Chr11:46316282 [GRCh38] Chr11:46337833 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1226del (p.Leu409fs) | deletion | not provided [RCV003704085] | Chr11:46317455 [GRCh38] Chr11:46339006 [GRCh37] Chr11:11p11.2 |
pathogenic |
NM_052854.4(CREB3L1):c.753+14G>A | single nucleotide variant | not provided [RCV003552892] | Chr11:46311203 [GRCh38] Chr11:46332754 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1258+10C>T | single nucleotide variant | not provided [RCV003729012] | Chr11:46317497 [GRCh38] Chr11:46339048 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.735A>G (p.Pro245=) | single nucleotide variant | not provided [RCV003730901] | Chr11:46311171 [GRCh38] Chr11:46332722 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1224C>T (p.Pro408=) | single nucleotide variant | not provided [RCV003841949] | Chr11:46317453 [GRCh38] Chr11:46339004 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1002G>A (p.Lys334=) | single nucleotide variant | not provided [RCV003867422] | Chr11:46312890 [GRCh38] Chr11:46334441 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.831C>G (p.Ile277Met) | single nucleotide variant | Inborn genetic diseases [RCV004367194] | Chr11:46312402 [GRCh38] Chr11:46333953 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1198G>A (p.Gly400Ser) | single nucleotide variant | Inborn genetic diseases [RCV004367190] | Chr11:46317427 [GRCh38] Chr11:46338978 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.444T>G (p.Ala148=) | single nucleotide variant | CREB3L1-related condition [RCV003973838] | Chr11:46307928 [GRCh38] Chr11:46329479 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.1186G>A (p.Glu396Lys) | single nucleotide variant | Inborn genetic diseases [RCV004367189] | Chr11:46317415 [GRCh38] Chr11:46338966 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.486C>A (p.Ser162Arg) | single nucleotide variant | Inborn genetic diseases [RCV004367193] | Chr11:46307970 [GRCh38] Chr11:46329521 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.418C>T (p.Pro140Ser) | single nucleotide variant | Inborn genetic diseases [RCV004367191] | Chr11:46307902 [GRCh38] Chr11:46329453 [GRCh37] Chr11:11p11.2 |
uncertain significance |
NM_052854.4(CREB3L1):c.1284C>T (p.Tyr428=) | single nucleotide variant | CREB3L1-related condition [RCV003981380] | Chr11:46320289 [GRCh38] Chr11:46341840 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.33C>T (p.Asp11=) | single nucleotide variant | not provided [RCV003737119] | Chr11:46278144 [GRCh38] Chr11:46299695 [GRCh37] Chr11:11p11.2 |
likely benign |
NM_052854.4(CREB3L1):c.45C>T (p.Pro15=) | single nucleotide variant | not provided [RCV003865408] | Chr11:46278156 [GRCh38] Chr11:46299707 [GRCh37] Chr11:11p11.2 |
likely benign |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
G29176 |
|
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | |
High | |||||||||||||||||
Medium | 1106 | 889 | 581 | 173 | 214 | 24 | 1111 | 425 | 578 | 105 | 817 | 720 | 153 | 439 | 606 | 1 | |
Low | 1304 | 1391 | 919 | 229 | 801 | 221 | 3142 | 1728 | 3065 | 251 | 588 | 833 | 13 | 765 | 2145 | 3 | |
Below cutoff | 15 | 663 | 213 | 213 | 780 | 213 | 86 | 39 | 65 | 52 | 43 | 47 | 5 | 1 | 37 |
RefSeq Transcripts | NG_033264 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001425266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001425267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001425268 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001425269 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_052854 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_189153 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006718380 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054370466 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB063321 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC116021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF055009 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK075538 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK314072 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC014097 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC015781 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ953032 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CF131922 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA693632 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF459675 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KT585048 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000527342 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000530518 ⟹ ENSP00000436574 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000534616 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000534787 ⟹ ENSP00000431677 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000616094 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000621158 ⟹ ENSP00000481956 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_052854 ⟹ NP_443086 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006718380 ⟹ XP_006718443 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_054370466 ⟹ XP_054226441 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001412195 | (Get FASTA) | NCBI Sequence Viewer |
NP_001412196 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001412197 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001412198 | (Get FASTA) | NCBI Sequence Viewer | |
NP_443086 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006718443 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054226441 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH14097 | (Get FASTA) | NCBI Sequence Viewer |
AAH15781 | (Get FASTA) | NCBI Sequence Viewer | |
BAC01278 | (Get FASTA) | NCBI Sequence Viewer | |
BAC11681 | (Get FASTA) | NCBI Sequence Viewer | |
BAG36772 | (Get FASTA) | NCBI Sequence Viewer | |
EAW68010 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000431677.1 | ||
ENSP00000436574.1 | |||
ENSP00000481956 | |||
ENSP00000481956.1 | |||
GenBank Protein | Q96BA8 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_443086 ⟸ NM_052854 |
- UniProtKB: | Q8N2D5 (UniProtKB/Swiss-Prot), Q96CP0 (UniProtKB/Swiss-Prot), Q96BA8 (UniProtKB/Swiss-Prot), B2RA75 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006718443 ⟸ XM_006718380 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | ENSP00000481956 ⟸ ENST00000621158 |
RefSeq Acc Id: | ENSP00000436574 ⟸ ENST00000530518 |
RefSeq Acc Id: | ENSP00000431677 ⟸ ENST00000534787 |
RefSeq Acc Id: | XP_054226441 ⟸ XM_054370466 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q96BA8-F1-model_v2 | AlphaFold | Q96BA8 | 1-519 | view protein structure |
RGD ID: | 6788646 | ||||||||
Promoter ID: | HG_KWN:12754 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562, Lymphoblastoid | ||||||||
Transcripts: | ENST00000288400, NM_052854, UC001NCF.1 | ||||||||
Position: |
|
RGD ID: | 6809971 | ||||||||
Promoter ID: | HG_ACW:11884 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid | ||||||||
Transcripts: | CREB3L1.GAPR07 | ||||||||
Position: |
|
RGD ID: | 7220167 | ||||||||
Promoter ID: | EPDNEW_H15829 | ||||||||
Type: | initiation region | ||||||||
Name: | CREB3L1_1 | ||||||||
Description: | cAMP responsive element binding protein 3 like 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H15830 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7220169 | ||||||||
Promoter ID: | EPDNEW_H15830 | ||||||||
Type: | initiation region | ||||||||
Name: | CREB3L1_2 | ||||||||
Description: | cAMP responsive element binding protein 3 like 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H15829 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:18856 | AgrOrtholog |
COSMIC | CREB3L1 | COSMIC |
Ensembl Genes | ENSG00000157613 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000530518.1 | UniProtKB/TrEMBL |
ENST00000534787.1 | UniProtKB/TrEMBL | |
ENST00000621158 | ENTREZGENE | |
ENST00000621158.5 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.20.5.170 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000157613 | GTEx |
HGNC ID | HGNC:18856 | ENTREZGENE |
Human Proteome Map | CREB3L1 | Human Proteome Map |
InterPro | bZIP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
bZIP_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:90993 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 90993 | ENTREZGENE |
OMIM | 616215 | OMIM |
PANTHER | CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN A | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR46004:SF1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | bZIP_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA134960108 | PharmGKB |
PRINTS | LEUZIPPRCREB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | BZIP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
BZIP_BASIC | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | BRLZ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF57959 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B2RA75 | ENTREZGENE, UniProtKB/TrEMBL |
CR3L1_HUMAN | UniProtKB/Swiss-Prot | |
E9PK33_HUMAN | UniProtKB/TrEMBL | |
H0YEU7_HUMAN | UniProtKB/TrEMBL | |
Q8N2D5 | ENTREZGENE | |
Q96BA8 | ENTREZGENE | |
Q96CP0 | ENTREZGENE | |
UniProt Secondary | Q8N2D5 | UniProtKB/Swiss-Prot |
Q96CP0 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-06-07 | CREB3L1 | cAMP responsive element binding protein 3 like 1 | cAMP responsive element binding protein 3-like 1 | Symbol and/or name change | 5135510 | APPROVED |