GREB1L (GREB1 like retinoic acid receptor coactivator) - Rat Genome Database

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Gene: GREB1L (GREB1 like retinoic acid receptor coactivator) Homo sapiens
Analyze
Symbol: GREB1L
Name: GREB1 like retinoic acid receptor coactivator
RGD ID: 1351643
HGNC Page HGNC:31042
Description: Acts upstream of or within kidney development. Predicted to be located in membrane. Implicated in autosomal dominant nonsyndromic deafness and renal agenesis.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C18orf6; DFNA80; GREB1-like protein; growth regulation by estrogen in breast cancer 1 like; growth regulation by estrogen in breast cancer-like; KIAA1772; RHDA3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381821,242,232 - 21,526,112 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1821,242,232 - 21,526,112 (+)EnsemblGRCh38hg38GRCh38
GRCh371818,822,193 - 19,106,073 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361817,076,317 - 17,356,789 (+)NCBINCBI36Build 36hg18NCBI36
Build 341817,076,200 - 17,342,674NCBI
Celera1815,628,176 - 15,908,773 (+)NCBICelera
Cytogenetic Map18q11.1-q11.2NCBI
HuRef1815,669,485 - 15,949,616 (+)NCBIHuRef
CHM1_11818,749,282 - 19,029,843 (+)NCBICHM1_1
T2T-CHM13v2.01821,427,291 - 21,711,206 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
membrane  (IEA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11214970   PMID:12477932   PMID:14702039   PMID:15146197   PMID:21873635   PMID:22658674   PMID:23403292   PMID:25798074   PMID:27433848   PMID:28514442   PMID:28739660   PMID:28986522  
PMID:29100090   PMID:29100091   PMID:29507755   PMID:30021884   PMID:31527615   PMID:33731348   PMID:33961781   PMID:36357908   PMID:36371238   PMID:37124138   PMID:37964281   PMID:38285371  


Genomics

Comparative Map Data
GREB1L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381821,242,232 - 21,526,112 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1821,242,232 - 21,526,112 (+)EnsemblGRCh38hg38GRCh38
GRCh371818,822,193 - 19,106,073 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361817,076,317 - 17,356,789 (+)NCBINCBI36Build 36hg18NCBI36
Build 341817,076,200 - 17,342,674NCBI
Celera1815,628,176 - 15,908,773 (+)NCBICelera
Cytogenetic Map18q11.1-q11.2NCBI
HuRef1815,669,485 - 15,949,616 (+)NCBIHuRef
CHM1_11818,749,282 - 19,029,843 (+)NCBICHM1_1
T2T-CHM13v2.01821,427,291 - 21,711,206 (+)NCBIT2T-CHM13v2.0
Greb1l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391810,324,933 - 10,562,945 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1810,325,177 - 10,562,940 (+)EnsemblGRCm39 Ensembl
GRCm381810,324,933 - 10,562,945 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1810,325,177 - 10,562,940 (+)EnsemblGRCm38mm10GRCm38
MGSCv371810,325,177 - 10,562,939 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361810,325,175 - 10,562,939 (+)NCBIMGSCv36mm8
MGSCv361810,327,252 - 10,429,003 (+)NCBIMGSCv36mm8
Celera1810,354,956 - 10,592,831 (+)NCBICelera
Cytogenetic Map18A1NCBI
cM Map185.0NCBI
Greb1l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8181,665,468 - 1,902,291 (+)NCBIGRCr8
mRatBN7.2181,392,330 - 1,629,483 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl181,392,725 - 1,628,067 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0181,537,315 - 1,784,260 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl181,723,565 - 1,784,233 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0181,757,633 - 1,821,402 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0181,704,334 - 1,742,157 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4181,795,820 - 1,908,522 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera181,273,512 - 1,511,753 (+)NCBICelera
Cytogenetic Map18p13NCBI
Greb1l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540210,104,225 - 10,201,479 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554029,865,934 - 10,204,990 (+)NCBIChiLan1.0ChiLan1.0
GREB1L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21738,660,383 - 38,942,862 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11824,352,918 - 24,635,444 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01814,482,493 - 14,763,789 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11818,120,919 - 18,402,948 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1818,244,575 - 18,400,335 (+)Ensemblpanpan1.1panPan2
GREB1L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1766,489,124 - 66,758,207 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl766,503,999 - 66,639,013 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha765,943,213 - 66,212,115 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0766,553,669 - 66,823,094 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl766,566,632 - 66,703,721 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1766,231,940 - 66,488,010 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0766,242,907 - 66,511,844 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0766,544,142 - 66,813,301 (-)NCBIUU_Cfam_GSD_1.0
Greb1l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494462,574,871 - 62,832,489 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365501,122,260 - 1,238,682 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365501,110,679 - 1,240,463 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GREB1L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6106,419,943 - 106,691,625 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16106,545,882 - 106,693,711 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2698,943,800 - 99,199,449 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GREB1L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11858,960,397 - 59,104,188 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1858,963,914 - 59,103,993 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605033,745,325 - 34,041,840 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Greb1l
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477010,225,669 - 10,345,173 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477010,223,131 - 10,471,309 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GREB1L
267 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001142966.3(GREB1L):c.3977del (p.Lys1326fs) deletion Renal hypodysplasia/aplasia 3 [RCV001526471] Chr18:21500545 [GRCh38]
Chr18:19080506 [GRCh37]
Chr18:18q11.2		 pathogenic
NM_001142966.3(GREB1L):c.5608+1del deletion Renal hypodysplasia/aplasia 3 [RCV000551574] Chr18:21520823 [GRCh38]
Chr18:19100784 [GRCh37]
Chr18:18q11.2		 pathogenic
NM_001142966.3(GREB1L):c.4700T>C (p.Leu1567Pro) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV000547388] Chr18:21508556 [GRCh38]
Chr18:19088517 [GRCh37]
Chr18:18q11.2		 pathogenic
NM_001142966.3(GREB1L):c.983G>A (p.Arg328Gln) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV000542205] Chr18:21440302 [GRCh38]
Chr18:19020263 [GRCh37]
Chr18:18q11.1		 pathogenic
NM_001142966.3(GREB1L):c.1582del (p.Gln528fs) deletion Renal hypodysplasia/aplasia 3 [RCV000548919] Chr18:21449696 [GRCh38]
Chr18:19029657 [GRCh37]
Chr18:18q11.1		 pathogenic
NM_001142966.3(GREB1L):c.4369-1G>C single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV000524866] Chr18:21508117 [GRCh38]
Chr18:19088078 [GRCh37]
Chr18:18q11.2		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3 copy number gain See cases [RCV000052545] Chr18:20960320..28601877 [GRCh38]
Chr18:18540281..26181841 [GRCh37]
Chr18:16794279..24435839 [NCBI36]
Chr18:18q11.1-12.1		 pathogenic
GRCh38/hg38 18q11.1-11.2(chr18:20964726-25043457)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052547]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052547]|See cases [RCV000052547] Chr18:20964726..25043457 [GRCh38]
Chr18:18544687..22623421 [GRCh37]
Chr18:16798685..20877419 [NCBI36]
Chr18:18q11.1-11.2		 pathogenic
GRCh38/hg38 18q11.1-11.2(chr18:20964726-24937674)x3 copy number gain See cases [RCV000052548] Chr18:20964726..24937674 [GRCh38]
Chr18:18544687..22517638 [GRCh37]
Chr18:16798685..20771636 [NCBI36]
Chr18:18q11.1-11.2		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
NM_001142966.1(GREB1L):c.2183-4257C>T single nucleotide variant Malignant melanoma [RCV000071764] Chr18:21468774 [GRCh38]
Chr18:19048735 [GRCh37]
Chr18:17302733 [NCBI36]
Chr18:18q11.1		 not provided
NM_001142966.1(GREB1L):c.1394-775C>T single nucleotide variant Lung cancer [RCV000100704] Chr18:21448735 [GRCh38]
Chr18:19028696 [GRCh37]
Chr18:18q11.1		 uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1(chr18:21085601-21414565)x1 copy number loss See cases [RCV000137665] Chr18:21085601..21414565 [GRCh38]
Chr18:18665562..18994526 [GRCh37]
Chr18:16919560..17248524 [NCBI36]
Chr18:18q11.1		 uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3 copy number gain See cases [RCV000141646] Chr18:20949378..34363455 [GRCh38]
Chr18:18529339..31943419 [GRCh37]
Chr18:16783337..30197417 [NCBI36]
Chr18:18q11.1-12.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3 copy number gain See cases [RCV000142226] Chr18:20941324..40360620 [GRCh38]
Chr18:18521285..37940584 [GRCh37]
Chr18:16775283..36194582 [NCBI36]
Chr18:18q11.1-12.3		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3 copy number gain See cases [RCV000143075] Chr18:8779843..24685379 [GRCh38]
Chr18:8779841..22265343 [GRCh37]
Chr18:8769841..20519341 [NCBI36]
Chr18:18p11.22-q11.2		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.21-q11.2(chr18:13340112-23409879) copy number gain See cases [RCV000143455] Chr18:13340112..23409879 [GRCh38]
Chr18:13340111..20989843 [GRCh37]
Chr18:13330111..19243841 [NCBI36]
Chr18:18p11.21-q11.2		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001142966.3(GREB1L):c.4607A>G (p.His1536Arg) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV000553765] Chr18:21508463 [GRCh38]
Chr18:19088424 [GRCh37]
Chr18:18q11.2		 pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
NM_001142966.3(GREB1L):c.3176T>C (p.Ile1059Thr) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV001270827] Chr18:21496483 [GRCh38]
Chr18:19076444 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.4000dup (p.Leu1334fs) duplication Renal hypodysplasia/aplasia 3 [RCV000526997] Chr18:21500568..21500569 [GRCh38]
Chr18:19080529..19080530 [GRCh37]
Chr18:18q11.2		 pathogenic
NM_001142966.3(GREB1L):c.2251C>T (p.Arg751Cys) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV000529777] Chr18:21473099 [GRCh38]
Chr18:19053060 [GRCh37]
Chr18:18q11.1		 pathogenic
GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3 copy number gain See cases [RCV000447320] Chr18:12254327..23262749 [GRCh37]
Chr18:18p11.21-q11.2		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3 copy number gain See cases [RCV000512118] Chr18:136226..21657790 [GRCh37]
Chr18:18p11.32-q11.2		 pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1		 pathogenic
GRCh37/hg19 18q11.1-11.2(chr18:18540833-19156332)x3 copy number gain See cases [RCV000510809] Chr18:18540833..19156332 [GRCh37]
Chr18:18q11.1-11.2		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001142966.3(GREB1L):c.5068G>A (p.Val1690Met) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001849400]|Renal hypodysplasia/aplasia 3 [RCV000527963] Chr18:21515583 [GRCh38]
Chr18:19095544 [GRCh37]
Chr18:18q11.2		 pathogenic|likely pathogenic|uncertain significance
NM_001142966.3(GREB1L):c.5378T>G (p.Leu1793Arg) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV000534553]|not provided [RCV003558443] Chr18:21518140 [GRCh38]
Chr18:19098101 [GRCh37]
Chr18:18q11.2		 pathogenic
NM_001142966.3(GREB1L):c.3295C>T (p.Gln1099Ter) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV000540979] Chr18:21496602 [GRCh38]
Chr18:19076563 [GRCh37]
Chr18:18q11.1		 pathogenic
NM_001142966.3(GREB1L):c.1780G>T (p.Glu594Ter) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV000541288] Chr18:21451082 [GRCh38]
Chr18:19031043 [GRCh37]
Chr18:18q11.1		 pathogenic
NM_001142966.3(GREB1L):c.4680C>A (p.Tyr1560Ter) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV000534917] Chr18:21508536 [GRCh38]
Chr18:19088497 [GRCh37]
Chr18:18q11.2		 pathogenic
NM_001142966.3(GREB1L):c.982C>T (p.Arg328Ter) single nucleotide variant Hearing loss, autosomal dominant 80 [RCV001374396]|Inner ear malformation [RCV000677230] Chr18:21440301 [GRCh38]
Chr18:19020262 [GRCh37]
Chr18:18q11.1		 pathogenic
NM_001142966.3(GREB1L):c.4368G>T (p.Gln1456His) single nucleotide variant Hearing loss, autosomal dominant 80 [RCV001374395]|Inner ear malformation [RCV000677231] Chr18:21505949 [GRCh38]
Chr18:19085910 [GRCh37]
Chr18:18q11.2		 pathogenic
NM_001142966.3(GREB1L):c.2441T>C (p.Leu814Pro) single nucleotide variant Renal agenesis [RCV001807661] Chr18:21477241 [GRCh38]
Chr18:19057202 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.4576C>T (p.Arg1526Ter) single nucleotide variant Hearing loss, autosomal dominant 80 [RCV001808066]|Rokitansky sequence [RCV003153249] Chr18:21508432 [GRCh38]
Chr18:19088393 [GRCh37]
Chr18:18q11.2		 pathogenic|likely pathogenic
NM_001142966.3(GREB1L):c.988C>T (p.Arg330Trp) single nucleotide variant Short stature [RCV000736150]|not provided [RCV001772022] Chr18:21440307 [GRCh38]
Chr18:19020268 [GRCh37]
Chr18:18q11.1		 likely pathogenic|uncertain significance
NM_001142966.3(GREB1L):c.1548C>T (p.Ser516=) single nucleotide variant not provided [RCV001531277] Chr18:21449664 [GRCh38]
Chr18:19029625 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.111T>G (p.Phe37Leu) single nucleotide variant Short stature [RCV000736151] Chr18:21383629 [GRCh38]
Chr18:18963590 [GRCh37]
Chr18:18q11.1		 likely pathogenic
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 copy number gain not provided [RCV000739776] Chr18:18539806..49926444 [GRCh37]
Chr18:18q11.1-21.2		 pathogenic
NM_001142966.3(GREB1L):c.1852_1863del (p.Asp618_Asp621del) deletion not provided [RCV000962625] Chr18:21452084..21452095 [GRCh38]
Chr18:19032045..19032056 [GRCh37]
Chr18:18q11.1		 benign
NM_001142966.3(GREB1L):c.3194C>T (p.Thr1065Ile) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV000853334] Chr18:21496501 [GRCh38]
Chr18:19076462 [GRCh37]
Chr18:18q11.1		 likely pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001142966.3(GREB1L):c.1849+10T>C single nucleotide variant not provided [RCV000948459] Chr18:21451161 [GRCh38]
Chr18:19031122 [GRCh37]
Chr18:18q11.1		 benign
NM_001142966.3(GREB1L):c.3528C>G (p.Ala1176=) single nucleotide variant not provided [RCV000961543] Chr18:21499865 [GRCh38]
Chr18:19079826 [GRCh37]
Chr18:18q11.1		 benign
NM_001142966.3(GREB1L):c.2891C>T (p.Ser964Leu) single nucleotide variant not provided [RCV000965401] Chr18:21490212 [GRCh38]
Chr18:19070173 [GRCh37]
Chr18:18q11.1		 benign
NM_001142966.3(GREB1L):c.2377T>C (p.Ser793Pro) single nucleotide variant not provided [RCV000917453] Chr18:21477177 [GRCh38]
Chr18:19057138 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.5133T>C (p.Tyr1711=) single nucleotide variant not provided [RCV000942416] Chr18:21516616 [GRCh38]
Chr18:19096577 [GRCh37]
Chr18:18q11.2		 likely benign
GRCh37/hg19 18q11.2(chr18:19047402-19737070)x3 copy number gain not provided [RCV000847262] Chr18:19047402..19737070 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.37C>T (p.Arg13Ter) single nucleotide variant Renal agenesis and hypodysplasia [RCV000845159] Chr18:21383555 [GRCh38]
Chr18:18963516 [GRCh37]
Chr18:18q11.1		 association
NM_001142966.3(GREB1L):c.383G>A (p.Arg128His) single nucleotide variant Renal agenesis and hypodysplasia [RCV000845160] Chr18:21395412 [GRCh38]
Chr18:18975373 [GRCh37]
Chr18:18q11.1		 association
NM_001142966.3(GREB1L):c.2281G>C (p.Glu761Gln) single nucleotide variant Renal agenesis and hypodysplasia [RCV000845161] Chr18:21473129 [GRCh38]
Chr18:19053090 [GRCh37]
Chr18:18q11.1		 association
NM_001142966.3(GREB1L):c.3197G>C (p.Arg1066Pro) single nucleotide variant Renal agenesis and hypodysplasia [RCV000845162] Chr18:21496504 [GRCh38]
Chr18:19076465 [GRCh37]
Chr18:18q11.1		 association
NM_001142966.3(GREB1L):c.4991A>C (p.Tyr1664Ser) single nucleotide variant Renal agenesis and hypodysplasia [RCV000845163] Chr18:21515506 [GRCh38]
Chr18:19095467 [GRCh37]
Chr18:18q11.2		 association
NM_001142966.3(GREB1L):c.818G>T (p.Gly273Val) single nucleotide variant Renal agenesis and hypodysplasia [RCV000845164] Chr18:21403980 [GRCh38]
Chr18:18983941 [GRCh37]
Chr18:18q11.1		 association
NM_001142966.3(GREB1L):c.1490C>G (p.Ala497Gly) single nucleotide variant Renal agenesis and hypodysplasia [RCV000845165] Chr18:21449606 [GRCh38]
Chr18:19029567 [GRCh37]
Chr18:18q11.1		 association
NM_001142966.3(GREB1L):c.4646T>C (p.Val1549Ala) single nucleotide variant Renal agenesis and hypodysplasia [RCV000845166] Chr18:21508502 [GRCh38]
Chr18:19088463 [GRCh37]
Chr18:18q11.2		 association
NM_001142966.3(GREB1L):c.4843G>A (p.Val1615Ile) single nucleotide variant Renal agenesis and hypodysplasia [RCV000845167] Chr18:21513928 [GRCh38]
Chr18:19093889 [GRCh37]
Chr18:18q11.2		 association
NM_001142966.3(GREB1L):c.4964T>C (p.Ile1655Thr) single nucleotide variant Renal agenesis and hypodysplasia [RCV000845168] Chr18:21515479 [GRCh38]
Chr18:19095440 [GRCh37]
Chr18:18q11.2		 association
NM_001142966.3(GREB1L):c.5651G>A (p.Arg1884His) single nucleotide variant Renal agenesis and hypodysplasia [RCV000845169]|not provided [RCV002536161] Chr18:21522700 [GRCh38]
Chr18:19102661 [GRCh37]
Chr18:18q11.2		 association|uncertain significance
NM_001142966.3(GREB1L):c.347C>T (p.Thr116Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss [RCV001194620]|Hearing loss, autosomal dominant 80 [RCV001374398] Chr18:21384395 [GRCh38]
Chr18:18964356 [GRCh37]
Chr18:18q11.1		 pathogenic|uncertain significance
GRCh37/hg19 18q11.1(chr18:18604788-18920850)x3 copy number gain not provided [RCV000849000] Chr18:18604788..18920850 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.1720+5G>A single nucleotide variant Renal agenesis [RCV001807662] Chr18:21449841 [GRCh38]
Chr18:19029802 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.5541T>C (p.Ser1847=) single nucleotide variant Hearing loss, autosomal dominant 80 [RCV001702336]|Renal hypodysplasia/aplasia 3 [RCV001702045]|not provided [RCV002077168] Chr18:21520756 [GRCh38]
Chr18:19100717 [GRCh37]
Chr18:18q11.2		 benign
NM_001142966.3(GREB1L):c.3555A>G (p.Glu1185=) single nucleotide variant Hearing loss, autosomal dominant 80 [RCV001702953]|Renal hypodysplasia/aplasia 3 [RCV001702952]|not provided [RCV001666291] Chr18:21499892 [GRCh38]
Chr18:19079853 [GRCh37]
Chr18:18q11.1		 benign
NM_001142966.3(GREB1L):c.3511G>A (p.Ala1171Thr) single nucleotide variant not provided [RCV003233384] Chr18:21499848 [GRCh38]
Chr18:19079809 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.1426G>A (p.Glu476Lys) single nucleotide variant Hearing loss, autosomal dominant 80 [RCV002471249] Chr18:21449542 [GRCh38]
Chr18:19029503 [GRCh37]
Chr18:18q11.1		 uncertain significance
GRCh37/hg19 18q11.1-11.2(chr18:18775750-19112469)x3 copy number gain not provided [RCV001006956] Chr18:18775750..19112469 [GRCh37]
Chr18:18q11.1-11.2		 uncertain significance
NM_001142966.3(GREB1L):c.5622T>A (p.Cys1874Ter) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV001174892] Chr18:21522671 [GRCh38]
Chr18:19102632 [GRCh37]
Chr18:18q11.2		 likely pathogenic
GRCh37/hg19 18q11.1-11.2(chr18:18532908-19094148)x3 copy number gain not provided [RCV001006955] Chr18:18532908..19094148 [GRCh37]
Chr18:18q11.1-11.2		 uncertain significance
NM_001142966.3(GREB1L):c.848A>G (p.Asn283Ser) single nucleotide variant Hearing loss, autosomal dominant 80 [RCV001374397]|Profound hearing impairment [RCV001030796] Chr18:21439536 [GRCh38]
Chr18:19019497 [GRCh37]
Chr18:18q11.1		 pathogenic|likely pathogenic
NM_001142966.3(GREB1L):c.2227del (p.Gln743fs) deletion Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257332] Chr18:21473075 [GRCh38]
Chr18:19053036 [GRCh37]
Chr18:18q11.1		 pathogenic
NM_001142966.3(GREB1L):c.277G>A (p.Glu93Lys) single nucleotide variant GREB1L-related condition [RCV003908429]|Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257340]|not provided [RCV002555442] Chr18:21384325 [GRCh38]
Chr18:18964286 [GRCh37]
Chr18:18q11.1		 benign|uncertain significance
NM_001142966.3(GREB1L):c.2594T>A (p.Leu865Ter) single nucleotide variant Hearing loss, autosomal dominant 80 [RCV001808265] Chr18:21485657 [GRCh38]
Chr18:19065618 [GRCh37]
Chr18:18q11.1		 likely pathogenic
NM_001142966.3(GREB1L):c.2312C>T (p.Pro771Leu) single nucleotide variant Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257335] Chr18:21473160 [GRCh38]
Chr18:19053121 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.1936T>C (p.Cys646Arg) single nucleotide variant Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257338] Chr18:21452169 [GRCh38]
Chr18:19032130 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.5198A>G (p.Asn1733Ser) single nucleotide variant Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257333] Chr18:21516681 [GRCh38]
Chr18:19096642 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.1852G>A (p.Asp618Asn) single nucleotide variant Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257336] Chr18:21452085 [GRCh38]
Chr18:19032046 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.3983G>A (p.Gly1328Asp) single nucleotide variant Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257337] Chr18:21500553 [GRCh38]
Chr18:19080514 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.3492G>T (p.Gly1164=) single nucleotide variant Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257339] Chr18:21499829 [GRCh38]
Chr18:19079790 [GRCh37]
Chr18:18q11.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001142966.3(GREB1L):c.5074G>T (p.Asp1692Tyr) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV001281297] Chr18:21515589 [GRCh38]
Chr18:19095550 [GRCh37]
Chr18:18q11.2		 likely pathogenic
NM_001142966.3(GREB1L):c.2787_2788del (p.Asp930fs) microsatellite Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257331] Chr18:21490106..21490107 [GRCh38]
Chr18:19070067..19070068 [GRCh37]
Chr18:18q11.1		 pathogenic
NM_001142966.3(GREB1L):c.3970-20A>G single nucleotide variant Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001257334]|Renal hypodysplasia/aplasia 3 [RCV001290410] Chr18:21500520 [GRCh38]
Chr18:19080481 [GRCh37]
Chr18:18q11.2		 pathogenic|likely pathogenic
NM_001142966.3(GREB1L):c.157+1del deletion Renal hypodysplasia/aplasia 3 [RCV001261996] Chr18:21383675 [GRCh38]
Chr18:18963636 [GRCh37]
Chr18:18q11.1		 likely pathogenic
NM_001142966.3(GREB1L):c.3170G>C (p.Arg1057Pro) single nucleotide variant Renal agenesis [RCV001807663] Chr18:21496477 [GRCh38]
Chr18:19076438 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.3364A>T (p.Asn1122Tyr) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV001335709] Chr18:21496671 [GRCh38]
Chr18:19076632 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.2401C>T (p.His801Tyr) single nucleotide variant not provided [RCV001356251] Chr18:21477201 [GRCh38]
Chr18:19057162 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.705G>T (p.Trp235Cys) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV001374712] Chr18:21401322 [GRCh38]
Chr18:18981283 [GRCh37]
Chr18:18q11.1		 pathogenic
NM_001142966.3(GREB1L):c.1702T>C (p.Phe568Leu) single nucleotide variant not provided [RCV001356782] Chr18:21449818 [GRCh38]
Chr18:19029779 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.409A>C (p.Ile137Leu) single nucleotide variant not provided [RCV001357540] Chr18:21395438 [GRCh38]
Chr18:18975399 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.4530G>C (p.Lys1510Asn) single nucleotide variant not provided [RCV001269965] Chr18:21508279 [GRCh38]
Chr18:19088240 [GRCh37]
Chr18:18q11.2		 likely pathogenic
NM_001142966.3(GREB1L):c.5650C>T (p.Arg1884Cys) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV001335710]|Rokitansky sequence [RCV003153247] Chr18:21522699 [GRCh38]
Chr18:19102660 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.1735C>T (p.Arg579Ter) single nucleotide variant not provided [RCV001311898] Chr18:21451037 [GRCh38]
Chr18:19030998 [GRCh37]
Chr18:18q11.1		 pathogenic
NM_001142966.3(GREB1L):c.4312A>G (p.Thr1438Ala) single nucleotide variant not provided [RCV001357536] Chr18:21505893 [GRCh38]
Chr18:19085854 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.3983del (p.Gly1328fs) deletion Renal hypodysplasia/aplasia 3 [RCV001526472] Chr18:21500551 [GRCh38]
Chr18:19080512 [GRCh37]
Chr18:18q11.2		 pathogenic
NM_001142966.3(GREB1L):c.2252G>A (p.Arg751His) single nucleotide variant Renal cortical hyperechogenicity [RCV001526584]|Renal hypodysplasia/aplasia 3 [RCV003154040] Chr18:21473100 [GRCh38]
Chr18:19053061 [GRCh37]
Chr18:18q11.1		 likely pathogenic
NM_001142966.3(GREB1L):c.4992T>A (p.Tyr1664Ter) single nucleotide variant Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV002247756] Chr18:21515507 [GRCh38]
Chr18:19095468 [GRCh37]
Chr18:18q11.2		 pathogenic
NM_001142966.3(GREB1L):c.1654C>T (p.Pro552Ser) single nucleotide variant not provided [RCV003107097] Chr18:21449770 [GRCh38]
Chr18:19029731 [GRCh37]
Chr18:18q11.1		 uncertain significance
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
NM_001142966.3(GREB1L):c.553G>A (p.Gly185Ser) single nucleotide variant Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153248]|Renal hypodysplasia/aplasia 3 [RCV001795811] Chr18:21401170 [GRCh38]
Chr18:18981131 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.3197G>A (p.Arg1066His) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV001809005] Chr18:21496504 [GRCh38]
Chr18:19076465 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.1124C>G (p.Pro375Arg) single nucleotide variant not provided [RCV002045761] Chr18:21441454 [GRCh38]
Chr18:19021415 [GRCh37]
Chr18:18q11.1		 uncertain significance
GRCh37/hg19 18q11.1-12.1(chr18:18611942-26843691)x3 copy number gain not provided [RCV001827640] Chr18:18611942..26843691 [GRCh37]
Chr18:18q11.1-12.1		 uncertain significance
GRCh37/hg19 18q11.1(chr18:18532909-18975889)x3 copy number gain not provided [RCV001832964] Chr18:18532909..18975889 [GRCh37]
Chr18:18q11.1		 uncertain significance
GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3 copy number gain not provided [RCV001832915] Chr18:136226..25252276 [GRCh37]
Chr18:18p11.32-q12.1		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.21-q11.1(chr18:14715282-18988457) copy number gain not specified [RCV002052627] Chr18:14715282..18988457 [GRCh37]
Chr18:18p11.21-q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.4276G>A (p.Val1426Ile) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001849619] Chr18:21505857 [GRCh38]
Chr18:19085818 [GRCh37]
Chr18:18q11.2		 likely pathogenic
NM_001142966.3(GREB1L):c.3926G>A (p.Arg1309Gln) single nucleotide variant not provided [RCV002012785] Chr18:21500263 [GRCh38]
Chr18:19080224 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.5707G>A (p.Glu1903Lys) single nucleotide variant not provided [RCV001932880] Chr18:21522756 [GRCh38]
Chr18:19102717 [GRCh37]
Chr18:18q11.2		 benign|uncertain significance
NM_001142966.3(GREB1L):c.5472+1_5472+2dup duplication not provided [RCV001897140] Chr18:21518234..21518235 [GRCh38]
Chr18:19098195..19098196 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.2364-1G>A single nucleotide variant not provided [RCV002211427] Chr18:21477163 [GRCh38]
Chr18:19057124 [GRCh37]
Chr18:18q11.1		 likely pathogenic
NM_001142966.3(GREB1L):c.1721-12T>C single nucleotide variant not provided [RCV002116036] Chr18:21451011 [GRCh38]
Chr18:19030972 [GRCh37]
Chr18:18q11.1		 benign
NM_001142966.3(GREB1L):c.3805C>T (p.Arg1269Trp) single nucleotide variant not provided [RCV002224788] Chr18:21500142 [GRCh38]
Chr18:19080103 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.3668G>T (p.Gly1223Val) single nucleotide variant not provided [RCV002193944] Chr18:21500005 [GRCh38]
Chr18:19079966 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.532+12A>G single nucleotide variant not provided [RCV002133677] Chr18:21395573 [GRCh38]
Chr18:18975534 [GRCh37]
Chr18:18q11.1		 benign
NM_001142966.3(GREB1L):c.2183-8_2183-6del microsatellite not provided [RCV002213574] Chr18:21473018..21473020 [GRCh38]
Chr18:19052979..19052981 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.2920C>A (p.Arg974=) single nucleotide variant not provided [RCV002099580] Chr18:21490241 [GRCh38]
Chr18:19070202 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.3875G>A (p.Arg1292Gln) single nucleotide variant GREB1L-related condition [RCV003950999]|not provided [RCV002081287] Chr18:21500212 [GRCh38]
Chr18:19080173 [GRCh37]
Chr18:18q11.2		 benign
NM_001142966.3(GREB1L):c.5584_5586dup (p.Leu1862dup) duplication not provided [RCV002175473] Chr18:21520797..21520798 [GRCh38]
Chr18:19100758..19100759 [GRCh37]
Chr18:18q11.2		 benign
NM_001142966.3(GREB1L):c.1438C>T (p.Leu480=) single nucleotide variant not provided [RCV002122636] Chr18:21449554 [GRCh38]
Chr18:19029515 [GRCh37]
Chr18:18q11.1		 benign
NM_001142966.3(GREB1L):c.4736-9G>A single nucleotide variant not provided [RCV002099197] Chr18:21513812 [GRCh38]
Chr18:19093773 [GRCh37]
Chr18:18q11.2		 benign
NM_001142966.3(GREB1L):c.1330G>A (p.Gly444Ser) single nucleotide variant GREB1L-related condition [RCV003933327]|not provided [RCV002216526] Chr18:21444346 [GRCh38]
Chr18:19024307 [GRCh37]
Chr18:18q11.1		 benign
NM_001142966.3(GREB1L):c.3582G>A (p.Ala1194=) single nucleotide variant GREB1L-related condition [RCV003893159]|not provided [RCV002202244] Chr18:21499919 [GRCh38]
Chr18:19079880 [GRCh37]
Chr18:18q11.1		 likely benign
NC_000018.9:g.(?_18963480)_(21534612_?)dup duplication Niemann-Pick disease, type C1 [RCV003109309] Chr18:18963480..21534612 [GRCh37]
Chr18:18q11.1-11.2		 uncertain significance
NM_001142966.3(GREB1L):c.5385C>T (p.His1795=) single nucleotide variant not provided [RCV003114830] Chr18:21518147 [GRCh38]
Chr18:19098108 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.4268G>A (p.Arg1423Gln) single nucleotide variant not provided [RCV003121968] Chr18:21505849 [GRCh38]
Chr18:19085810 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.1984+3A>C single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV003148500] Chr18:21452220 [GRCh38]
Chr18:19032181 [GRCh37]
Chr18:18q11.1		 likely pathogenic
NM_001142966.3(GREB1L):c.203G>T (p.Arg68Leu) single nucleotide variant GREB1L-related condition [RCV003946443]|not provided [RCV003131071] Chr18:21384251 [GRCh38]
Chr18:18964212 [GRCh37]
Chr18:18q11.1		 uncertain significance
GRCh37/hg19 18q11.1-11.2(chr18:18856932-19159898)x1 copy number loss Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003154842] Chr18:18856932..19159898 [GRCh37]
Chr18:18q11.1-11.2		 pathogenic
NM_001142966.3(GREB1L):c.5246A>T (p.Asp1749Val) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV002294582] Chr18:21516729 [GRCh38]
Chr18:19096690 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.4507C>T (p.Arg1503Trp) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV002284002] Chr18:21508256 [GRCh38]
Chr18:19088217 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.3200C>G (p.Thr1067Arg) single nucleotide variant not provided [RCV002291957] Chr18:21496507 [GRCh38]
Chr18:19076468 [GRCh37]
Chr18:18q11.1		 uncertain significance
GRCh37/hg19 18q11.1(chr18:18529578-18833060)x3 copy number gain not provided [RCV002472792] Chr18:18529578..18833060 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.3704C>A (p.Ser1235Tyr) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV003236636] Chr18:21500041 [GRCh38]
Chr18:19080002 [GRCh37]
Chr18:18q11.2		 likely pathogenic
NM_001142966.3(GREB1L):c.3259G>A (p.Gly1087Arg) single nucleotide variant not provided [RCV002968075] Chr18:21496566 [GRCh38]
Chr18:19076527 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.3328G>A (p.Asp1110Asn) single nucleotide variant GREB1L-related condition [RCV003936352]|not provided [RCV002903865] Chr18:21496635 [GRCh38]
Chr18:19076596 [GRCh37]
Chr18:18q11.1		 benign|likely benign
NM_001142966.3(GREB1L):c.1062A>G (p.Ser354=) single nucleotide variant GREB1L-related condition [RCV003916707]|not provided [RCV002994612] Chr18:21440381 [GRCh38]
Chr18:19020342 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.4071C>T (p.Thr1357=) single nucleotide variant not provided [RCV003097506] Chr18:21500641 [GRCh38]
Chr18:19080602 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.833-5T>C single nucleotide variant not provided [RCV002968057] Chr18:21439516 [GRCh38]
Chr18:19019477 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.2690+8G>A single nucleotide variant not provided [RCV002902951] Chr18:21485761 [GRCh38]
Chr18:19065722 [GRCh37]
Chr18:18q11.1		 benign
NM_001142966.3(GREB1L):c.2556+19G>C single nucleotide variant not provided [RCV002776249] Chr18:21477375 [GRCh38]
Chr18:19057336 [GRCh37]
Chr18:18q11.1		 benign
NM_001142966.3(GREB1L):c.1265T>C (p.Leu422Pro) single nucleotide variant not provided [RCV002775057] Chr18:21444281 [GRCh38]
Chr18:19024242 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.5501C>A (p.Pro1834His) single nucleotide variant not provided [RCV002837814] Chr18:21520716 [GRCh38]
Chr18:19100677 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.645A>G (p.Leu215=) single nucleotide variant not provided [RCV002863389] Chr18:21401262 [GRCh38]
Chr18:18981223 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.3286G>A (p.Gly1096Arg) single nucleotide variant GREB1L-related condition [RCV003926541]|not provided [RCV002910206] Chr18:21496593 [GRCh38]
Chr18:19076554 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.533-17G>A single nucleotide variant not provided [RCV002658499] Chr18:21401133 [GRCh38]
Chr18:18981094 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.3031-12C>T single nucleotide variant not provided [RCV003036626] Chr18:21495658 [GRCh38]
Chr18:19075619 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.2774T>C (p.Met925Thr) single nucleotide variant not provided [RCV002639117] Chr18:21490095 [GRCh38]
Chr18:19070056 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.2652C>T (p.Asp884=) single nucleotide variant GREB1L-related condition [RCV003926639]|not provided [RCV003002235] Chr18:21485715 [GRCh38]
Chr18:19065676 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.3574dup (p.Gln1192fs) duplication not provided [RCV003038981] Chr18:21499906..21499907 [GRCh38]
Chr18:19079867..19079868 [GRCh37]
Chr18:18q11.1		 pathogenic
NM_001142966.3(GREB1L):c.2799A>G (p.Thr933=) single nucleotide variant not provided [RCV002923687] Chr18:21490120 [GRCh38]
Chr18:19070081 [GRCh37]
Chr18:18q11.1		 benign|likely benign
NM_001142966.3(GREB1L):c.2067G>A (p.Ala689=) single nucleotide variant not provided [RCV002590423] Chr18:21454448 [GRCh38]
Chr18:19034409 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.5706C>T (p.Asp1902=) single nucleotide variant not provided [RCV002923159] Chr18:21522755 [GRCh38]
Chr18:19102716 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.2556+11T>C single nucleotide variant not provided [RCV002949098] Chr18:21477367 [GRCh38]
Chr18:19057328 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.3981G>A (p.Thr1327=) single nucleotide variant not provided [RCV002932199] Chr18:21500551 [GRCh38]
Chr18:19080512 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.4731C>A (p.Gly1577=) single nucleotide variant not provided [RCV003084739] Chr18:21508587 [GRCh38]
Chr18:19088548 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.5566T>C (p.Ser1856Pro) single nucleotide variant not provided [RCV002745462] Chr18:21520781 [GRCh38]
Chr18:19100742 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.5614dup (p.Thr1872fs) duplication Renal hypodysplasia/aplasia 3 [RCV002790022] Chr18:21522662..21522663 [GRCh38]
Chr18:19102623..19102624 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.159T>C (p.Asp53=) single nucleotide variant GREB1L-related condition [RCV003943526]|not provided [RCV002890792] Chr18:21384207 [GRCh38]
Chr18:18964168 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.4962C>T (p.His1654=) single nucleotide variant not provided [RCV002574184] Chr18:21515477 [GRCh38]
Chr18:19095438 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.3920G>A (p.Gly1307Asp) single nucleotide variant not provided [RCV002931943] Chr18:21500257 [GRCh38]
Chr18:19080218 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.1628G>A (p.Ser543Asn) single nucleotide variant not provided [RCV002985741] Chr18:21449744 [GRCh38]
Chr18:19029705 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.3911C>T (p.Pro1304Leu) single nucleotide variant GREB1L-related condition [RCV003961200]|not provided [RCV002932256] Chr18:21500248 [GRCh38]
Chr18:19080209 [GRCh37]
Chr18:18q11.2		 benign|likely benign
NM_001142966.3(GREB1L):c.203G>A (p.Arg68His) single nucleotide variant not provided [RCV003082814] Chr18:21384251 [GRCh38]
Chr18:18964212 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.2715C>T (p.Val905=) single nucleotide variant not provided [RCV002932974] Chr18:21490036 [GRCh38]
Chr18:19069997 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.2019G>T (p.Pro673=) single nucleotide variant GREB1L-related condition [RCV003903715]|not provided [RCV002576058] Chr18:21454400 [GRCh38]
Chr18:19034361 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.2777C>T (p.Ala926Val) single nucleotide variant not provided [RCV002917728] Chr18:21490098 [GRCh38]
Chr18:19070059 [GRCh37]
Chr18:18q11.1		 benign
NM_001142966.3(GREB1L):c.2240A>G (p.Lys747Arg) single nucleotide variant GREB1L-related condition [RCV003963419]|not provided [RCV002932198] Chr18:21473088 [GRCh38]
Chr18:19053049 [GRCh37]
Chr18:18q11.1		 benign
NM_001142966.3(GREB1L):c.1322G>C (p.Gly441Ala) single nucleotide variant not provided [RCV002828105] Chr18:21444338 [GRCh38]
Chr18:19024299 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.510T>A (p.Asp170Glu) single nucleotide variant not provided [RCV002918908] Chr18:21395539 [GRCh38]
Chr18:18975500 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.2167C>T (p.Arg723Trp) single nucleotide variant GREB1L-related condition [RCV003961149]|Renal hypodysplasia/aplasia 3 [RCV003340544]|not provided [RCV002894568] Chr18:21454548 [GRCh38]
Chr18:19034509 [GRCh37]
Chr18:18q11.1		 benign|likely benign|uncertain significance
NM_001142966.3(GREB1L):c.1578G>A (p.Val526=) single nucleotide variant not provided [RCV003088705] Chr18:21449694 [GRCh38]
Chr18:19029655 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.374A>G (p.Lys125Arg) single nucleotide variant not provided [RCV002582121] Chr18:21395403 [GRCh38]
Chr18:18975364 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.3047A>C (p.Glu1016Ala) single nucleotide variant not provided [RCV002602456] Chr18:21495686 [GRCh38]
Chr18:19075647 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.4977A>G (p.Pro1659=) single nucleotide variant not provided [RCV003009226] Chr18:21515492 [GRCh38]
Chr18:19095453 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.166C>A (p.Pro56Thr) single nucleotide variant GREB1L-related condition [RCV003418561]|not provided [RCV002597937] Chr18:21384214 [GRCh38]
Chr18:18964175 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.4115_4118dup (p.Trp1373fs) duplication not provided [RCV003009347] Chr18:21505453..21505454 [GRCh38]
Chr18:19085414..19085415 [GRCh37]
Chr18:18q11.2		 pathogenic
NM_001142966.3(GREB1L):c.1570G>A (p.Val524Met) single nucleotide variant not provided [RCV003044636] Chr18:21449686 [GRCh38]
Chr18:19029647 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.3021G>A (p.Ala1007=) single nucleotide variant not provided [RCV003063591] Chr18:21490342 [GRCh38]
Chr18:19070303 [GRCh37]
Chr18:18q11.1		 benign
NM_001142966.3(GREB1L):c.5766T>C (p.His1922=) single nucleotide variant GREB1L-related condition [RCV003961170]|not provided [RCV002895942] Chr18:21522815 [GRCh38]
Chr18:19102776 [GRCh37]
Chr18:18q11.2		 benign|likely benign
NM_001142966.3(GREB1L):c.5608+13del deletion not provided [RCV002630597] Chr18:21520834 [GRCh38]
Chr18:19100795 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.3702A>G (p.Leu1234=) single nucleotide variant not provided [RCV003090003] Chr18:21500039 [GRCh38]
Chr18:19080000 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.3481A>G (p.Thr1161Ala) single nucleotide variant not provided [RCV003008918] Chr18:21499818 [GRCh38]
Chr18:19079779 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.92T>G (p.Val31Gly) single nucleotide variant not provided [RCV002599111] Chr18:21383610 [GRCh38]
Chr18:18963571 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.1394-6A>G single nucleotide variant GREB1L-related condition [RCV003961235]|not provided [RCV002938341] Chr18:21449504 [GRCh38]
Chr18:19029465 [GRCh37]
Chr18:18q11.1		 benign
NM_001142966.3(GREB1L):c.3030+9T>C single nucleotide variant not provided [RCV003067500] Chr18:21490360 [GRCh38]
Chr18:19070321 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.1388G>A (p.Arg463Gln) single nucleotide variant GREB1L-related condition [RCV003926592]|not provided [RCV002943556] Chr18:21444404 [GRCh38]
Chr18:19024365 [GRCh37]
Chr18:18q11.1		 benign|likely benign
NM_001142966.3(GREB1L):c.4902-9A>G single nucleotide variant not provided [RCV003069147] Chr18:21515408 [GRCh38]
Chr18:19095369 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.3171G>A (p.Arg1057=) single nucleotide variant not provided [RCV002725674] Chr18:21496478 [GRCh38]
Chr18:19076439 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.2601G>A (p.Glu867=) single nucleotide variant not provided [RCV002680860] Chr18:21485664 [GRCh38]
Chr18:19065625 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.1990G>A (p.Asp664Asn) single nucleotide variant not provided [RCV002585672] Chr18:21454371 [GRCh38]
Chr18:19034332 [GRCh37]
Chr18:18q11.1		 benign
NM_001142966.3(GREB1L):c.97C>G (p.Pro33Ala) single nucleotide variant not provided [RCV002605705] Chr18:21383615 [GRCh38]
Chr18:18963576 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.722G>A (p.Arg241Gln) single nucleotide variant not provided [RCV002606979] Chr18:21403884 [GRCh38]
Chr18:18983845 [GRCh37]
Chr18:18q11.1		 likely benign|uncertain significance
NM_001142966.3(GREB1L):c.14A>G (p.Tyr5Cys) single nucleotide variant not provided [RCV002586457] Chr18:21383532 [GRCh38]
Chr18:18963493 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.3721C>G (p.Leu1241Val) single nucleotide variant not provided [RCV002612843] Chr18:21500058 [GRCh38]
Chr18:19080019 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.3146+15A>G single nucleotide variant not provided [RCV002609477] Chr18:21495800 [GRCh38]
Chr18:19075761 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.2614_2615del (p.Leu872fs) microsatellite Renal hypodysplasia/aplasia 3 [RCV003154319] Chr18:21485674..21485675 [GRCh38]
Chr18:19065635..19065636 [GRCh37]
Chr18:18q11.1		 pathogenic
NM_001142966.3(GREB1L):c.833A>T (p.Asp278Val) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV003154627] Chr18:21439521 [GRCh38]
Chr18:19019482 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.4881_4882del (p.His1627fs) microsatellite Renal hypodysplasia/aplasia 3 [RCV003219195] Chr18:21513964..21513965 [GRCh38]
Chr18:19093925..19093926 [GRCh37]
Chr18:18q11.2		 likely pathogenic
NM_001142966.3(GREB1L):c.575G>A (p.Arg192Gln) single nucleotide variant Rokitansky sequence [RCV003153275] Chr18:21401192 [GRCh38]
Chr18:18981153 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.2321T>A (p.Leu774Gln) single nucleotide variant Scoliosis, isolated, susceptibility to, 1 [RCV003153277] Chr18:21473169 [GRCh38]
Chr18:19053130 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.4054GAG[2] (p.Glu1354del) microsatellite Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153279] Chr18:21500624..21500626 [GRCh38]
Chr18:19080585..19080587 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.3205T>A (p.Leu1069Met) single nucleotide variant Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153280] Chr18:21496512 [GRCh38]
Chr18:19076473 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.5396_5397del (p.Lys1799fs) deletion Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153281] Chr18:21518157..21518158 [GRCh38]
Chr18:19098118..19098119 [GRCh37]
Chr18:18q11.2		 pathogenic
NM_001142966.3(GREB1L):c.1558G>A (p.Asp520Asn) single nucleotide variant Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153282] Chr18:21449674 [GRCh38]
Chr18:19029635 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.1729C>T (p.Gln577Ter) single nucleotide variant not provided [RCV003143384] Chr18:21451031 [GRCh38]
Chr18:19030992 [GRCh37]
Chr18:18q11.1		 likely pathogenic
NM_001142966.3(GREB1L):c.566G>A (p.Arg189Lys) single nucleotide variant not provided [RCV003135448] Chr18:21401183 [GRCh38]
Chr18:18981144 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.5060G>T (p.Arg1687Met) single nucleotide variant not provided [RCV003135449] Chr18:21515575 [GRCh38]
Chr18:19095536 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.2938G>A (p.Asp980Asn) single nucleotide variant not provided [RCV003135450] Chr18:21490259 [GRCh38]
Chr18:19070220 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.226G>A (p.Asp76Asn) single nucleotide variant not provided [RCV003135451] Chr18:21384274 [GRCh38]
Chr18:18964235 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.2722T>C (p.Cys908Arg) single nucleotide variant Rokitansky sequence [RCV003153283] Chr18:21490043 [GRCh38]
Chr18:19070004 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.3068G>A (p.Arg1023Gln) single nucleotide variant Rokitansky sequence [RCV003153284] Chr18:21495707 [GRCh38]
Chr18:19075668 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.3146+1G>A single nucleotide variant Rokitansky sequence [RCV003153271] Chr18:21495786 [GRCh38]
Chr18:19075747 [GRCh37]
Chr18:18q11.1		 pathogenic
NM_001142966.3(GREB1L):c.3167T>C (p.Leu1056Pro) single nucleotide variant Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153278] Chr18:21496474 [GRCh38]
Chr18:19076435 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.5441C>A (p.Ala1814Asp) single nucleotide variant Mayer-Rokitansky-Küster-Hauser syndrome type 2 [RCV003153272] Chr18:21518203 [GRCh38]
Chr18:19098164 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.3085G>A (p.Asp1029Asn) single nucleotide variant Rokitansky sequence [RCV003153273] Chr18:21495724 [GRCh38]
Chr18:19075685 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.3353G>A (p.Arg1118Gln) single nucleotide variant Rokitansky sequence [RCV003153274] Chr18:21496660 [GRCh38]
Chr18:19076621 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.2947G>A (p.Gly983Ser) single nucleotide variant Scoliosis, isolated, susceptibility to, 1 [RCV003153276] Chr18:21490268 [GRCh38]
Chr18:19070229 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.3863G>A (p.Trp1288Ter) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV003323267] Chr18:21500200 [GRCh38]
Chr18:19080161 [GRCh37]
Chr18:18q11.2		 likely pathogenic
NM_001142966.3(GREB1L):c.5280G>C (p.Glu1760Asp) single nucleotide variant GREB1L-related condition [RCV003936746]|not provided [RCV003334206] Chr18:21518042 [GRCh38]
Chr18:19098003 [GRCh37]
Chr18:18q11.2		 benign
NM_001142966.3(GREB1L):c.1975C>T (p.Gln659Ter) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV003384291] Chr18:21452208 [GRCh38]
Chr18:19032169 [GRCh37]
Chr18:18q11.1		 pathogenic
NM_001142966.3(GREB1L):c.570dup (p.Phe191fs) duplication Renal hypodysplasia/aplasia 3 [RCV003331740] Chr18:21401186..21401187 [GRCh38]
Chr18:18981147..18981148 [GRCh37]
Chr18:18q11.1		 pathogenic
NM_001142966.3(GREB1L):c.4698G>T (p.Met1566Ile) single nucleotide variant not specified [RCV003332007] Chr18:21508554 [GRCh38]
Chr18:19088515 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.3781G>A (p.Asp1261Asn) single nucleotide variant GREB1L-related condition [RCV003418849] Chr18:21500118 [GRCh38]
Chr18:19080079 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.5030C>A (p.Thr1677Asn) single nucleotide variant GREB1L-related condition [RCV003419113] Chr18:21515545 [GRCh38]
Chr18:19095506 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.3323A>G (p.Asp1108Gly) single nucleotide variant GREB1L-related condition [RCV003419240]|not provided [RCV003549095] Chr18:21496630 [GRCh38]
Chr18:19076591 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.2328G>C (p.Val776=) single nucleotide variant not provided [RCV003570988] Chr18:21473176 [GRCh38]
Chr18:19053137 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.950-13dup duplication not provided [RCV003880602] Chr18:21440249..21440250 [GRCh38]
Chr18:19020210..19020211 [GRCh37]
Chr18:18q11.1		 benign
NM_001142966.3(GREB1L):c.974C>T (p.Pro325Leu) single nucleotide variant GREB1L-related condition [RCV003391317] Chr18:21440293 [GRCh38]
Chr18:19020254 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.968G>A (p.Gly323Glu) single nucleotide variant Renal hypodysplasia/aplasia 3 [RCV003388879] Chr18:21440287 [GRCh38]
Chr18:19020248 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.1348G>A (p.Val450Met) single nucleotide variant GREB1L-related condition [RCV003427756] Chr18:21444364 [GRCh38]
Chr18:19024325 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.4188G>T (p.Met1396Ile) single nucleotide variant GREB1L-related condition [RCV003393101] Chr18:21505527 [GRCh38]
Chr18:19085488 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.4871G>A (p.Trp1624Ter) single nucleotide variant GREB1L-related condition [RCV003404548] Chr18:21513956 [GRCh38]
Chr18:19093917 [GRCh37]
Chr18:18q11.2		 likely pathogenic
NM_001142966.3(GREB1L):c.3814del (p.Leu1271_Leu1272insTer) deletion GREB1L-related condition [RCV003408482] Chr18:21500150 [GRCh38]
Chr18:19080111 [GRCh37]
Chr18:18q11.2		 likely pathogenic
NM_001142966.3(GREB1L):c.875C>T (p.Ala292Val) single nucleotide variant GREB1L-related condition [RCV003399865] Chr18:21439563 [GRCh38]
Chr18:19019524 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.5175T>C (p.Ser1725=) single nucleotide variant not provided [RCV003423045] Chr18:21516658 [GRCh38]
Chr18:19096619 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.532+5G>A single nucleotide variant GREB1L-related condition [RCV003397470] Chr18:21395566 [GRCh38]
Chr18:18975527 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.3914C>T (p.Ala1305Val) single nucleotide variant GREB1L-related condition [RCV003414397] Chr18:21500251 [GRCh38]
Chr18:19080212 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.2065G>A (p.Ala689Thr) single nucleotide variant GREB1L-related condition [RCV003392833] Chr18:21454446 [GRCh38]
Chr18:19034407 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.2232del (p.Ala745fs) deletion GREB1L-related condition [RCV003405773] Chr18:21473080 [GRCh38]
Chr18:19053041 [GRCh37]
Chr18:18q11.1		 likely pathogenic
NM_001142966.3(GREB1L):c.3353G>C (p.Arg1118Pro) single nucleotide variant GREB1L-related condition [RCV003392975] Chr18:21496660 [GRCh38]
Chr18:19076621 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.3665G>A (p.Arg1222Gln) single nucleotide variant GREB1L-related condition [RCV003414482] Chr18:21500002 [GRCh38]
Chr18:19079963 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.3931T>C (p.Phe1311Leu) single nucleotide variant GREB1L-related condition [RCV003405990] Chr18:21500268 [GRCh38]
Chr18:19080229 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.2161_2162del (p.Leu721fs) microsatellite GREB1L-related condition [RCV003402401] Chr18:21454540..21454541 [GRCh38]
Chr18:19034501..19034502 [GRCh37]
Chr18:18q11.1		 likely pathogenic
NM_001142966.3(GREB1L):c.5017A>G (p.Ser1673Gly) single nucleotide variant GREB1L-related condition [RCV003402289] Chr18:21515532 [GRCh38]
Chr18:19095493 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.2992G>A (p.Glu998Lys) single nucleotide variant GREB1L-related condition [RCV003410733] Chr18:21490313 [GRCh38]
Chr18:19070274 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.920C>T (p.Pro307Leu) single nucleotide variant GREB1L-related condition [RCV003406123] Chr18:21439608 [GRCh38]
Chr18:19019569 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.1505T>C (p.Val502Ala) single nucleotide variant GREB1L-related condition [RCV003410905] Chr18:21449621 [GRCh38]
Chr18:19029582 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.5362C>A (p.Leu1788Ile) single nucleotide variant Hearing loss, autosomal dominant 80 [RCV003448779] Chr18:21518124 [GRCh38]
Chr18:19098085 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.1901G>C (p.Ser634Thr) single nucleotide variant GREB1L-related condition [RCV003427913]|not provided [RCV003427912] Chr18:21452134 [GRCh38]
Chr18:19032095 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.2945T>C (p.Leu982Pro) single nucleotide variant GREB1L-related condition [RCV003402895] Chr18:21490266 [GRCh38]
Chr18:19070227 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.3798C>G (p.Ser1266Arg) single nucleotide variant GREB1L-related condition [RCV003420995] Chr18:21500135 [GRCh38]
Chr18:19080096 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.1071G>A (p.Glu357=) single nucleotide variant not provided [RCV003830033] Chr18:21441401 [GRCh38]
Chr18:19021362 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.4587C>G (p.His1529Gln) single nucleotide variant not provided [RCV003695170] Chr18:21508443 [GRCh38]
Chr18:19088404 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.4735+14dup duplication not provided [RCV003879774] Chr18:21508599..21508600 [GRCh38]
Chr18:19088560..19088561 [GRCh37]
Chr18:18q11.2		 benign
NM_001142966.3(GREB1L):c.5662G>A (p.Val1888Ile) single nucleotide variant not provided [RCV003830741] Chr18:21522711 [GRCh38]
Chr18:19102672 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.2855G>A (p.Ser952Asn) single nucleotide variant not provided [RCV003712975] Chr18:21490176 [GRCh38]
Chr18:19070137 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.4369-13T>C single nucleotide variant not provided [RCV003877269] Chr18:21508105 [GRCh38]
Chr18:19088066 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.4391C>A (p.Ala1464Asp) single nucleotide variant not provided [RCV003882684] Chr18:21508140 [GRCh38]
Chr18:19088101 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.94G>A (p.Val32Ile) single nucleotide variant not provided [RCV003882601] Chr18:21383612 [GRCh38]
Chr18:18963573 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.4864G>C (p.Val1622Leu) single nucleotide variant not provided [RCV003572768] Chr18:21513949 [GRCh38]
Chr18:19093910 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.1593G>A (p.Leu531=) single nucleotide variant not provided [RCV003716255] Chr18:21449709 [GRCh38]
Chr18:19029670 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.1013dup (p.Gln340fs) duplication not provided [RCV003547584] Chr18:21440331..21440332 [GRCh38]
Chr18:19020292..19020293 [GRCh37]
Chr18:18q11.1		 pathogenic
NM_001142966.3(GREB1L):c.3969+5G>A single nucleotide variant not provided [RCV003875809] Chr18:21500311 [GRCh38]
Chr18:19080272 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.5272-14G>A single nucleotide variant not provided [RCV003877429] Chr18:21518020 [GRCh38]
Chr18:19097981 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.5633A>G (p.Gln1878Arg) single nucleotide variant not provided [RCV003850183] Chr18:21522682 [GRCh38]
Chr18:19102643 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.1283A>G (p.Lys428Arg) single nucleotide variant not provided [RCV003659323] Chr18:21444299 [GRCh38]
Chr18:19024260 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.3298G>A (p.Glu1100Lys) single nucleotide variant not provided [RCV003659537] Chr18:21496605 [GRCh38]
Chr18:19076566 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.158-16T>C single nucleotide variant not provided [RCV003832763] Chr18:21384190 [GRCh38]
Chr18:18964151 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.3033T>C (p.Ser1011=) single nucleotide variant not provided [RCV003851511] Chr18:21495672 [GRCh38]
Chr18:19075633 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.2746T>G (p.Ser916Ala) single nucleotide variant not provided [RCV003817040] Chr18:21490067 [GRCh38]
Chr18:19070028 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.4369-9C>G single nucleotide variant GREB1L-related condition [RCV003909117]|not provided [RCV003725900] Chr18:21508109 [GRCh38]
Chr18:19088070 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.3342C>T (p.Ile1114=) single nucleotide variant not provided [RCV003726513] Chr18:21496649 [GRCh38]
Chr18:19076610 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.74C>T (p.Ser25Phe) single nucleotide variant not provided [RCV003833031] Chr18:21383592 [GRCh38]
Chr18:18963553 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.3020C>T (p.Ala1007Val) single nucleotide variant not provided [RCV003726224] Chr18:21490341 [GRCh38]
Chr18:19070302 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.3336G>C (p.Leu1112=) single nucleotide variant not provided [RCV003835174] Chr18:21496643 [GRCh38]
Chr18:19076604 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.1683G>A (p.Ser561=) single nucleotide variant not provided [RCV003726414] Chr18:21449799 [GRCh38]
Chr18:19029760 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.3088G>A (p.Gly1030Ser) single nucleotide variant not provided [RCV003837496] Chr18:21495727 [GRCh38]
Chr18:19075688 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.3969+18G>A single nucleotide variant not provided [RCV003816875] Chr18:21500324 [GRCh38]
Chr18:19080285 [GRCh37]
Chr18:18q11.2		 benign
NM_001142966.3(GREB1L):c.5473-11G>A single nucleotide variant not provided [RCV003812245] Chr18:21520677 [GRCh38]
Chr18:19100638 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.20G>A (p.Gly7Glu) single nucleotide variant not provided [RCV003673880] Chr18:21383538 [GRCh38]
Chr18:18963499 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.1810G>A (p.Val604Ile) single nucleotide variant not provided [RCV003668252] Chr18:21451112 [GRCh38]
Chr18:19031073 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.2391C>T (p.Ser797=) single nucleotide variant GREB1L-related condition [RCV003939100]|not provided [RCV003561491] Chr18:21477191 [GRCh38]
Chr18:19057152 [GRCh37]
Chr18:18q11.1		 benign|likely benign
NM_001142966.3(GREB1L):c.157G>A (p.Asp53Asn) single nucleotide variant not provided [RCV003558325] Chr18:21383675 [GRCh38]
Chr18:18963636 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.5397del (p.Lys1799fs) deletion not provided [RCV003697693] Chr18:21518157 [GRCh38]
Chr18:19098118 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.901G>C (p.Gly301Arg) single nucleotide variant not provided [RCV003669049] Chr18:21439589 [GRCh38]
Chr18:19019550 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.2367C>T (p.Val789=) single nucleotide variant not provided [RCV003548522] Chr18:21477167 [GRCh38]
Chr18:19057128 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.4887T>G (p.Val1629=) single nucleotide variant not provided [RCV003696967] Chr18:21513972 [GRCh38]
Chr18:19093933 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.4030C>A (p.Leu1344Ile) single nucleotide variant not provided [RCV003700591] Chr18:21500600 [GRCh38]
Chr18:19080561 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.4943T>G (p.Leu1648Trp) single nucleotide variant not provided [RCV003701671] Chr18:21515458 [GRCh38]
Chr18:19095419 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.3384G>A (p.Gly1128=) single nucleotide variant not provided [RCV003672398] Chr18:21496691 [GRCh38]
Chr18:19076652 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.3578T>C (p.Met1193Thr) single nucleotide variant GREB1L-related condition [RCV003954258]|not provided [RCV003551268] Chr18:21499915 [GRCh38]
Chr18:19079876 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.4840A>G (p.Ile1614Val) single nucleotide variant not provided [RCV003819750] Chr18:21513925 [GRCh38]
Chr18:19093886 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.5472+18G>T single nucleotide variant not provided [RCV003842360] Chr18:21518252 [GRCh38]
Chr18:19098213 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.2556+16G>T single nucleotide variant not provided [RCV003819170] Chr18:21477372 [GRCh38]
Chr18:19057333 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.2691-11T>G single nucleotide variant not provided [RCV003857963] Chr18:21490001 [GRCh38]
Chr18:19069962 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.3954G>A (p.Leu1318=) single nucleotide variant not provided [RCV003728904] Chr18:21500291 [GRCh38]
Chr18:19080252 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.4228+15C>T single nucleotide variant not provided [RCV003841294] Chr18:21505582 [GRCh38]
Chr18:19085543 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.3777C>T (p.His1259=) single nucleotide variant not provided [RCV003844131] Chr18:21500114 [GRCh38]
Chr18:19080075 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.2519C>G (p.Ser840Cys) single nucleotide variant not provided [RCV003551441] Chr18:21477319 [GRCh38]
Chr18:19057280 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.1370C>T (p.Thr457Met) single nucleotide variant not provided [RCV003733218] Chr18:21444386 [GRCh38]
Chr18:19024347 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.3868T>C (p.Leu1290=) single nucleotide variant not provided [RCV003726994] Chr18:21500205 [GRCh38]
Chr18:19080166 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.1103C>G (p.Pro368Arg) single nucleotide variant not provided [RCV003706350] Chr18:21441433 [GRCh38]
Chr18:19021394 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.4494C>T (p.His1498=) single nucleotide variant not provided [RCV003737217] Chr18:21508243 [GRCh38]
Chr18:19088204 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.5130-7A>C single nucleotide variant not provided [RCV003737466] Chr18:21516606 [GRCh38]
Chr18:19096567 [GRCh37]
Chr18:18q11.2		 benign
NM_001142966.3(GREB1L):c.3392-18C>T single nucleotide variant not provided [RCV003684416] Chr18:21499711 [GRCh38]
Chr18:19079672 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.5212A>G (p.Met1738Val) single nucleotide variant not provided [RCV003867988] Chr18:21516695 [GRCh38]
Chr18:19096656 [GRCh37]
Chr18:18q11.2		 uncertain significance
NM_001142966.3(GREB1L):c.3810A>G (p.Pro1270=) single nucleotide variant not provided [RCV003556932] Chr18:21500147 [GRCh38]
Chr18:19080108 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.1474G>C (p.Ala492Pro) single nucleotide variant not provided [RCV003557199] Chr18:21449590 [GRCh38]
Chr18:19029551 [GRCh37]
Chr18:18q11.1		 uncertain significance
GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3 copy number gain not specified [RCV003987288] Chr18:18529339..26968022 [GRCh37]
Chr18:18q11.1-12.1		 uncertain significance
GRCh37/hg19 18q11.1(chr18:18540833-18833060)x3 copy number gain not specified [RCV003987290] Chr18:18540833..18833060 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.1068G>A (p.Thr356=) single nucleotide variant not provided [RCV003722667] Chr18:21440387 [GRCh38]
Chr18:19020348 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.962T>A (p.Ile321Asn) single nucleotide variant not provided [RCV003722246] Chr18:21440281 [GRCh38]
Chr18:19020242 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.4711G>A (p.Gly1571Ser) single nucleotide variant not provided [RCV003554786] Chr18:21508567 [GRCh38]
Chr18:19088528 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.1191A>G (p.Arg397=) single nucleotide variant not provided [RCV003721967] Chr18:21441521 [GRCh38]
Chr18:19021482 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.5088C>T (p.Leu1696=) single nucleotide variant not provided [RCV003553327] Chr18:21515603 [GRCh38]
Chr18:19095564 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.3915C>T (p.Ala1305=) single nucleotide variant not provided [RCV003551234] Chr18:21500252 [GRCh38]
Chr18:19080213 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.455A>G (p.Asn152Ser) single nucleotide variant not provided [RCV003728646] Chr18:21395484 [GRCh38]
Chr18:18975445 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.1549G>A (p.Val517Ile) single nucleotide variant not provided [RCV003821592] Chr18:21449665 [GRCh38]
Chr18:19029626 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.783C>T (p.Thr261=) single nucleotide variant GREB1L-related condition [RCV003899394] Chr18:21403945 [GRCh38]
Chr18:18983906 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.1662T>C (p.Tyr554=) single nucleotide variant GREB1L-related condition [RCV003982039] Chr18:21449778 [GRCh38]
Chr18:19029739 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.2383T>C (p.Ser795Pro) single nucleotide variant GREB1L-related condition [RCV003921546] Chr18:21477183 [GRCh38]
Chr18:19057144 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.3840G>A (p.Glu1280=) single nucleotide variant GREB1L-related condition [RCV003893852] Chr18:21500177 [GRCh38]
Chr18:19080138 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.2182+4A>G single nucleotide variant GREB1L-related condition [RCV003952271] Chr18:21454567 [GRCh38]
Chr18:19034528 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.2173C>A (p.Arg725=) single nucleotide variant GREB1L-related condition [RCV003943975] Chr18:21454554 [GRCh38]
Chr18:19034515 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.1278C>G (p.Cys426Trp) single nucleotide variant GREB1L-related condition [RCV003961606] Chr18:21444294 [GRCh38]
Chr18:19024255 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.2690+9T>C single nucleotide variant GREB1L-related condition [RCV003917264] Chr18:21485762 [GRCh38]
Chr18:19065723 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.1850-6T>C single nucleotide variant GREB1L-related condition [RCV003959199] Chr18:21452077 [GRCh38]
Chr18:19032038 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.1208-9T>C single nucleotide variant GREB1L-related condition [RCV003934257] Chr18:21444215 [GRCh38]
Chr18:19024176 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.1907_1910dup (p.Pro638fs) duplication GREB1L-related condition [RCV003982696] Chr18:21452139..21452140 [GRCh38]
Chr18:19032100..19032101 [GRCh37]
Chr18:18q11.1		 pathogenic
NM_001142966.3(GREB1L):c.1171C>G (p.Leu391Val) single nucleotide variant GREB1L-related condition [RCV003982719] Chr18:21441501 [GRCh38]
Chr18:19021462 [GRCh37]
Chr18:18q11.1		 uncertain significance
NM_001142966.3(GREB1L):c.4735+6G>A single nucleotide variant GREB1L-related condition [RCV003944406] Chr18:21508597 [GRCh38]
Chr18:19088558 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.-7G>A single nucleotide variant GREB1L-related condition [RCV003941769] Chr18:21383512 [GRCh38]
Chr18:18963473 [GRCh37]
Chr18:18q11.1		 benign
NM_001142966.3(GREB1L):c.3219G>C (p.Val1073=) single nucleotide variant GREB1L-related condition [RCV003893847] Chr18:21496526 [GRCh38]
Chr18:19076487 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.3146+5A>T single nucleotide variant GREB1L-related condition [RCV003957070] Chr18:21495790 [GRCh38]
Chr18:19075751 [GRCh37]
Chr18:18q11.1		 likely benign
NM_001142966.3(GREB1L):c.5472+7del deletion GREB1L-related condition [RCV003896952] Chr18:21518237 [GRCh38]
Chr18:19098198 [GRCh37]
Chr18:18q11.2		 likely benign
NM_001142966.3(GREB1L):c.2571C>T (p.Cys857=) single nucleotide variant GREB1L-related condition [RCV003904592] Chr18:21485634 [GRCh38]
Chr18:19065595 [GRCh37]
Chr18:18q11.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3344
Count of miRNA genes:1264
Interacting mature miRNAs:1619
Transcripts:ENST00000269218, ENST00000400483, ENST00000424526, ENST00000431264, ENST00000578368, ENST00000578383, ENST00000578955, ENST00000579454, ENST00000580384, ENST00000580683, ENST00000580732, ENST00000581327, ENST00000584446
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D18S1149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371819,061,224 - 19,061,483UniSTSGRCh37
Build 361817,315,222 - 17,315,481RGDNCBI36
Celera1815,867,204 - 15,867,463RGD
Cytogenetic Map18q11.2UniSTS
HuRef1815,908,026 - 15,908,281UniSTS
Marshfield Genetic Map1849.55UniSTS
Marshfield Genetic Map1849.55RGD
Genethon Genetic Map1848.8UniSTS
TNG Radiation Hybrid Map186765.0UniSTS
GeneMap99-GB4 RH Map18162.34UniSTS
Whitehead-YAC Contig Map18 UniSTS
NCBI RH Map18235.5UniSTS
D18S1230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371818,983,934 - 18,984,158UniSTSGRCh37
Build 361817,237,932 - 17,238,156RGDNCBI36
Celera1815,789,868 - 15,790,092RGD
Cytogenetic Map18q11.2UniSTS
HuRef1815,830,800 - 15,831,024UniSTS
Whitehead-YAC Contig Map18 UniSTS
D18S45  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371818,820,504 - 18,820,694UniSTSGRCh37
Build 361817,074,502 - 17,074,692RGDNCBI36
Celera1815,626,475 - 15,626,667RGD
Cytogenetic Map18q11.2UniSTS
HuRef1815,667,786 - 15,667,976UniSTS
SHGC-146011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371819,081,110 - 19,081,214UniSTSGRCh37
Build 361817,335,108 - 17,335,212RGDNCBI36
Celera1815,887,089 - 15,887,193RGD
Cytogenetic Map18q11.2UniSTS
HuRef1815,927,919 - 15,928,023UniSTS
TNG Radiation Hybrid Map186779.0UniSTS
RH45685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371819,062,715 - 19,062,835UniSTSGRCh37
Build 361817,316,713 - 17,316,833RGDNCBI36
Celera1815,868,695 - 15,868,815RGD
Cytogenetic Map18q11.2UniSTS
HuRef1815,909,515 - 15,909,635UniSTS
GeneMap99-GB4 RH Map18165.8UniSTS
NCBI RH Map18233.5UniSTS
RH44941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371819,036,867 - 19,036,973UniSTSGRCh37
Build 361817,290,865 - 17,290,971RGDNCBI36
Celera1815,842,859 - 15,842,965RGD
Cytogenetic Map18q11.2UniSTS
HuRef1815,883,678 - 15,883,784UniSTS
GeneMap99-GB4 RH Map18168.09UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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 pharyngeal arch
High
Medium 84 50 161 8 1 10 119 75 27 4 106 196 40 39 2
Low 1304 2005 1286 456 145 385 3846 1857 2507 135 1148 948 77 1 1038 2649 4 1
Below cutoff 969 797 273 156 1441 66 369 237 1162 184 180 450 92 126 100

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001142966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA703199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB051559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC015878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE336624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG774496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN369824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN369826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DY655149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON390796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000269218   ⟹   ENSP00000269218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1821,242,358 - 21,522,821 (+)Ensembl
RefSeq Acc Id: ENST00000424526   ⟹   ENSP00000412060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1821,242,232 - 21,526,112 (+)Ensembl
RefSeq Acc Id: ENST00000578368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1821,366,041 - 21,468,884 (+)Ensembl
RefSeq Acc Id: ENST00000578383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1821,485,369 - 21,490,231 (+)Ensembl
RefSeq Acc Id: ENST00000578955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1821,451,099 - 21,508,715 (+)Ensembl
RefSeq Acc Id: ENST00000579454   ⟹   ENSP00000463926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1821,242,259 - 21,522,821 (+)Ensembl
RefSeq Acc Id: ENST00000580384   ⟹   ENSP00000462152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1821,513,903 - 21,520,739 (+)Ensembl
RefSeq Acc Id: ENST00000580683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1821,449,741 - 21,451,370 (+)Ensembl
RefSeq Acc Id: ENST00000580732   ⟹   ENSP00000464162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1821,363,593 - 21,525,417 (+)Ensembl
RefSeq Acc Id: ENST00000581327   ⟹   ENSP00000463976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1821,449,635 - 21,452,433 (+)Ensembl
RefSeq Acc Id: ENST00000584446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1821,242,242 - 21,455,130 (+)Ensembl
RefSeq Acc Id: NM_001142966   ⟹   NP_001136438
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,526,112 (+)NCBI
GRCh371818,822,203 - 19,105,384 (+)NCBI
Celera1815,628,176 - 15,908,773 (+)RGD
HuRef1815,669,485 - 15,949,616 (+)ENTREZGENE
CHM1_11818,749,282 - 19,029,843 (+)NCBI
T2T-CHM13v2.01821,427,291 - 21,711,206 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001410867   ⟹   NP_001397796
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,526,112 (+)NCBI
T2T-CHM13v2.01821,427,291 - 21,711,206 (+)NCBI
RefSeq Acc Id: NM_001410868   ⟹   NP_001397797
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,526,112 (+)NCBI
T2T-CHM13v2.01821,427,291 - 21,711,206 (+)NCBI
RefSeq Acc Id: XM_006722547   ⟹   XP_006722610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,526,112 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011526179   ⟹   XP_011524481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,526,112 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025989   ⟹   XP_016881478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,519,931 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025990   ⟹   XP_016881479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,519,931 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025991   ⟹   XP_016881480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,519,931 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025993   ⟹   XP_016881482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,519,931 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025994   ⟹   XP_016881483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,519,931 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025995   ⟹   XP_016881484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,519,931 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025996   ⟹   XP_016881485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,519,931 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047437809   ⟹   XP_047293765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,519,931 (+)NCBI
RefSeq Acc Id: XM_047437810   ⟹   XP_047293766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,363,621 - 21,519,931 (+)NCBI
RefSeq Acc Id: XM_047437811   ⟹   XP_047293767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,519,931 (+)NCBI
RefSeq Acc Id: XM_047437813   ⟹   XP_047293769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,519,931 (+)NCBI
RefSeq Acc Id: XM_047437814   ⟹   XP_047293770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,363,621 - 21,519,931 (+)NCBI
RefSeq Acc Id: XM_047437815   ⟹   XP_047293771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,519,931 (+)NCBI
RefSeq Acc Id: XM_047437816   ⟹   XP_047293772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,526,112 (+)NCBI
RefSeq Acc Id: XM_047437817   ⟹   XP_047293773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,519,931 (+)NCBI
RefSeq Acc Id: XM_047437818   ⟹   XP_047293774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,526,112 (+)NCBI
RefSeq Acc Id: XM_047437819   ⟹   XP_047293775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,526,112 (+)NCBI
RefSeq Acc Id: XM_047437820   ⟹   XP_047293776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,363,621 - 21,519,931 (+)NCBI
RefSeq Acc Id: XM_047437821   ⟹   XP_047293777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,363,621 - 21,526,112 (+)NCBI
RefSeq Acc Id: XM_047437822   ⟹   XP_047293778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,363,621 - 21,519,931 (+)NCBI
RefSeq Acc Id: XM_047437824   ⟹   XP_047293780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,508,754 (+)NCBI
RefSeq Acc Id: XM_047437825   ⟹   XP_047293781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,508,754 (+)NCBI
RefSeq Acc Id: XM_047437826   ⟹   XP_047293782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,508,754 (+)NCBI
RefSeq Acc Id: XM_047437827   ⟹   XP_047293783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,508,754 (+)NCBI
RefSeq Acc Id: XM_054319125   ⟹   XP_054175100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,427,291 - 21,704,992 (+)NCBI
RefSeq Acc Id: XM_054319126   ⟹   XP_054175101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,427,291 - 21,704,992 (+)NCBI
RefSeq Acc Id: XM_054319127   ⟹   XP_054175102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,427,291 - 21,704,992 (+)NCBI
RefSeq Acc Id: XM_054319128   ⟹   XP_054175103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,427,291 - 21,704,992 (+)NCBI
RefSeq Acc Id: XM_054319129   ⟹   XP_054175104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,427,291 - 21,704,992 (+)NCBI
RefSeq Acc Id: XM_054319130   ⟹   XP_054175105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,427,291 - 21,711,206 (+)NCBI
RefSeq Acc Id: XM_054319131   ⟹   XP_054175106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,427,291 - 21,704,992 (+)NCBI
RefSeq Acc Id: XM_054319132   ⟹   XP_054175107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,427,291 - 21,704,992 (+)NCBI
RefSeq Acc Id: XM_054319133   ⟹   XP_054175108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,548,642 - 21,704,992 (+)NCBI
RefSeq Acc Id: XM_054319134   ⟹   XP_054175109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,427,291 - 21,704,992 (+)NCBI
RefSeq Acc Id: XM_054319135   ⟹   XP_054175110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,427,291 - 21,711,206 (+)NCBI
RefSeq Acc Id: XM_054319136   ⟹   XP_054175111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,427,291 - 21,704,992 (+)NCBI
RefSeq Acc Id: XM_054319137   ⟹   XP_054175112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,427,291 - 21,711,206 (+)NCBI
RefSeq Acc Id: XM_054319138   ⟹   XP_054175113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,427,291 - 21,711,206 (+)NCBI
RefSeq Acc Id: XM_054319139   ⟹   XP_054175114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,427,291 - 21,711,206 (+)NCBI
RefSeq Acc Id: XM_054319140   ⟹   XP_054175115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,427,291 - 21,704,992 (+)NCBI
RefSeq Acc Id: XM_054319141   ⟹   XP_054175116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,548,622 - 21,704,992 (+)NCBI
RefSeq Acc Id: XM_054319142   ⟹   XP_054175117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,427,291 - 21,704,992 (+)NCBI
RefSeq Acc Id: XM_054319143   ⟹   XP_054175118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,548,642 - 21,711,206 (+)NCBI
RefSeq Acc Id: XM_054319144   ⟹   XP_054175119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,427,291 - 21,704,992 (+)NCBI
RefSeq Acc Id: XM_054319145   ⟹   XP_054175120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,548,642 - 21,704,992 (+)NCBI
RefSeq Acc Id: XM_054319146   ⟹   XP_054175121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,427,291 - 21,698,800 (+)NCBI
RefSeq Acc Id: XM_054319147   ⟹   XP_054175122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,427,291 - 21,698,800 (+)NCBI
RefSeq Acc Id: XM_054319148   ⟹   XP_054175123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01821,427,291 - 21,698,800 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001136438 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397796 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397797 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722610 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524481 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881478 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881479 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881480 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881482 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881483 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881484 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881485 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293765 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293766 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293767 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293769 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293770 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293771 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293772 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293773 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293774 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293775 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293776 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293777 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293778 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293780 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293781 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293782 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293783 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175100 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175101 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175102 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175103 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175104 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175105 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175106 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175107 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175108 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175109 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175110 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175111 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175112 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175113 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175114 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175115 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175116 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175117 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175118 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175119 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175120 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175121 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175122 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175123 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI25018 (Get FASTA)   NCBI Sequence Viewer  
  BAB14666 (Get FASTA)   NCBI Sequence Viewer  
  BAB21863 (Get FASTA)   NCBI Sequence Viewer  
  BAG56840 (Get FASTA)   NCBI Sequence Viewer  
  EAX01122 (Get FASTA)   NCBI Sequence Viewer  
  EAX01123 (Get FASTA)   NCBI Sequence Viewer  
  EAX01124 (Get FASTA)   NCBI Sequence Viewer  
  EAX01125 (Get FASTA)   NCBI Sequence Viewer  
  EAX01126 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000269218
  ENSP00000269218.6
  ENSP00000412060
  ENSP00000412060.1
  ENSP00000462152.1
  ENSP00000463926
  ENSP00000463926.2
  ENSP00000463976.1
  ENSP00000464162.1
GenBank Protein Q9C091 (Get FASTA)   NCBI Sequence Viewer  
  WCO04810 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001136438   ⟸   NM_001142966
- Peptide Label: isoform 2
- UniProtKB: A4QN17 (UniProtKB/Swiss-Prot),   Q9H8F1 (UniProtKB/Swiss-Prot),   Q9C091 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006722610   ⟸   XM_006722547
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011524481   ⟸   XM_011526179
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016881478   ⟸   XM_017025989
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016881482   ⟸   XM_017025993
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016881479   ⟸   XM_017025990
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016881480   ⟸   XM_017025991
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016881483   ⟸   XM_017025994
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016881484   ⟸   XM_017025995
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016881485   ⟸   XM_017025996
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: ENSP00000464162   ⟸   ENST00000580732
RefSeq Acc Id: ENSP00000462152   ⟸   ENST00000580384
RefSeq Acc Id: ENSP00000412060   ⟸   ENST00000424526
RefSeq Acc Id: ENSP00000463976   ⟸   ENST00000581327
RefSeq Acc Id: ENSP00000269218   ⟸   ENST00000269218
RefSeq Acc Id: ENSP00000463926   ⟸   ENST00000579454
RefSeq Acc Id: XP_047293772   ⟸   XM_047437816
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047293775   ⟸   XM_047437819
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047293774   ⟸   XM_047437818
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047293765   ⟸   XM_047437809
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293767   ⟸   XM_047437811
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047293769   ⟸   XM_047437813
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047293771   ⟸   XM_047437815
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047293773   ⟸   XM_047437817
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047293782   ⟸   XM_047437826
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047293780   ⟸   XM_047437824
- Peptide Label: isoform X16
RefSeq Acc Id: XP_047293781   ⟸   XM_047437825
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047293783   ⟸   XM_047437827
- Peptide Label: isoform X19
RefSeq Acc Id: XP_047293777   ⟸   XM_047437821
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047293766   ⟸   XM_047437810
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293776   ⟸   XM_047437820
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047293770   ⟸   XM_047437814
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047293778   ⟸   XM_047437822
- Peptide Label: isoform X15
RefSeq Acc Id: NP_001397796   ⟸   NM_001410867
- Peptide Label: isoform 1
- UniProtKB: J3QQW0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397797   ⟸   NM_001410868
- Peptide Label: isoform 3
RefSeq Acc Id: XP_054175105   ⟸   XM_054319130
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054175114   ⟸   XM_054319139
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054175110   ⟸   XM_054319135
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054175113   ⟸   XM_054319138
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054175112   ⟸   XM_054319137
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054175100   ⟸   XM_054319125
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054175102   ⟸   XM_054319127
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054175103   ⟸   XM_054319128
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054175104   ⟸   XM_054319129
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054175115   ⟸   XM_054319140
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054175117   ⟸   XM_054319142
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054175106   ⟸   XM_054319131
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054175109   ⟸   XM_054319134
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054175111   ⟸   XM_054319136
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054175119   ⟸   XM_054319144
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054175101   ⟸   XM_054319126
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054175107   ⟸   XM_054319132
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054175122   ⟸   XM_054319147
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054175121   ⟸   XM_054319146
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054175123   ⟸   XM_054319148
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054175116   ⟸   XM_054319141
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054175118   ⟸   XM_054319143
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054175108   ⟸   XM_054319133
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054175120   ⟸   XM_054319145
- Peptide Label: isoform X15
Protein Domains
GREB1 N-terminal   GREB1-like C-terminal   GREB1-like circularly permuted SF2 helicase   GREB1-like second   TET-Associated Glycosyltransferase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9C091-F1-model_v2 AlphaFold Q9C091 1-1923 view protein structure

Promoters
RGD ID:7236999
Promoter ID:EPDNEW_H24246
Type:initiation region
Name:GREB1L_1
Description:growth regulation by estrogen in breast cancer 1 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381821,242,232 - 21,242,292EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31042 AgrOrtholog
COSMIC GREB1L COSMIC
Ensembl Genes ENSG00000141449 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000269218 ENTREZGENE
  ENST00000269218.10 UniProtKB/Swiss-Prot
  ENST00000424526 ENTREZGENE
  ENST00000424526.7 UniProtKB/Swiss-Prot
  ENST00000579454 ENTREZGENE
  ENST00000579454.2 UniProtKB/TrEMBL
  ENST00000580384.1 UniProtKB/TrEMBL
  ENST00000580732.6 UniProtKB/Swiss-Prot
  ENST00000581327.1 UniProtKB/TrEMBL
GTEx ENSG00000141449 GTEx
HGNC ID HGNC:31042 ENTREZGENE
Human Proteome Map GREB1L Human Proteome Map
InterPro GREB1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GREB1-like_2nd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GREB1-like_cpSF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GREB1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GREB1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TAGT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:80000 UniProtKB/Swiss-Prot
NCBI Gene 80000 ENTREZGENE
OMIM 617782 OMIM
PANTHER PTHR15720 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15720:SF12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam cpSF2-GREB1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GREB1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GREB1_2nd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GREB1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TAGT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165429012 PharmGKB
UniProt A4QN17 ENTREZGENE
  GRB1L_HUMAN UniProtKB/Swiss-Prot
  J3KRT4_HUMAN UniProtKB/TrEMBL
  J3QQW0 ENTREZGENE, UniProtKB/TrEMBL
  J3QR03_HUMAN UniProtKB/TrEMBL
  Q9C091 ENTREZGENE
  Q9H8F1 ENTREZGENE
UniProt Secondary A4QN17 UniProtKB/Swiss-Prot
  Q9H8F1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-03-27 GREB1L  GREB1 like retinoic acid receptor coactivator    growth regulation by estrogen in breast cancer 1 like  Symbol and/or name change 5135510 APPROVED
2016-06-21 GREB1L  growth regulation by estrogen in breast cancer 1 like    growth regulation by estrogen in breast cancer-like  Symbol and/or name change 5135510 APPROVED
2011-07-27 GREB1L  growth regulation by estrogen in breast cancer-like  KIAA1772  KIAA1772  Symbol and/or name change 5135510 APPROVED