MED23 (mediator complex subunit 23) - Rat Genome Database

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Gene: MED23 (mediator complex subunit 23) Homo sapiens
Analyze
Symbol: MED23
Name: mediator complex subunit 23
RGD ID: 1316995
HGNC Page HGNC:2372
Description: Predicted to enable transcription coactivator activity. Acts upstream of or within regulation of DNA-templated transcription. Located in core mediator complex. Part of transcription regulator complex. Implicated in autosomal recessive intellectual developmental disorder 18.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 130 kDa transcriptional co-activator; 133 kDa transcriptional co-activator; activator-recruited cofactor 130 kDa component; ARC130; cofactor required for Sp1 transcriptional activation subunit 3; CRSP130; CRSP133; CRSP3; DKFZp434H0117; DRIP130; mediator complex subunit MED23 variant MED23_i6; mediator complex subunit MED23 variant MED23_i7; mediator of RNA polymerase II transcription subunit 23; mental retardation, non-syndromic, autosomal recessive, 18; MRT18; SUR-2; SUR2; vitamin D3 receptor interacting protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386131,573,966 - 131,628,313 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6131,573,966 - 131,628,242 (-)EnsemblGRCh38hg38GRCh38
GRCh376131,895,106 - 131,949,453 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366131,936,799 - 131,991,056 (-)NCBINCBI36Build 36hg18NCBI36
Build 346131,936,799 - 131,991,056NCBI
Celera6132,641,744 - 132,696,002 (-)NCBICelera
Cytogenetic Map6q23.2NCBI
HuRef6129,476,289 - 129,531,194 (-)NCBIHuRef
CHM1_16132,158,892 - 132,213,170 (-)NCBICHM1_1
T2T-CHM13v2.06132,768,443 - 132,822,783 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. The Mediator complex and transcription regulation. Poss ZC, etal., Crit Rev Biochem Mol Biol. 2013 Nov-Dec;48(6):575-608. doi: 10.3109/10409238.2013.840259. Epub 2013 Oct 3.
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9989412   PMID:10235266   PMID:10235267   PMID:10353252   PMID:10574462   PMID:10753860   PMID:10823961   PMID:10993082   PMID:11076863   PMID:11230166   PMID:11416138   PMID:11559591  
PMID:11834832   PMID:11867769   PMID:11934987   PMID:12089346   PMID:12242338   PMID:12421765   PMID:12477932   PMID:12543799   PMID:12708845   PMID:14574404   PMID:14638676   PMID:14657022  
PMID:14759369   PMID:15025473   PMID:15175163   PMID:15489336   PMID:15572696   PMID:15893730   PMID:15989967   PMID:16147992   PMID:16204234   PMID:16239144   PMID:16381901   PMID:16799563  
PMID:16964286   PMID:17438371   PMID:18418385   PMID:18660489   PMID:18691967   PMID:19322201   PMID:19913121   PMID:20098423   PMID:20111005   PMID:20133760   PMID:20508642   PMID:20628086  
PMID:20720539   PMID:21629298   PMID:21729782   PMID:21868677   PMID:21873635   PMID:22939629   PMID:22988093   PMID:23022380   PMID:23275444   PMID:23322298   PMID:23340209   PMID:23464919  
PMID:23602568   PMID:23746844   PMID:24882805   PMID:24981860   PMID:25245031   PMID:25273169   PMID:25281560   PMID:25659154   PMID:25684393   PMID:25792360   PMID:25845469   PMID:25921289  
PMID:26152846   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27311965   PMID:27579896   PMID:27914500   PMID:28481362   PMID:28514442   PMID:28813667   PMID:29180619   PMID:29384474  
PMID:29509190   PMID:29568061   PMID:30033366   PMID:30140054   PMID:30554943   PMID:30847200   PMID:30948266   PMID:31091453   PMID:31324722   PMID:31527615   PMID:32239614   PMID:32416067  
PMID:32707033   PMID:32908313   PMID:33226137   PMID:33567268   PMID:33961781   PMID:34244565   PMID:34431227   PMID:34795231   PMID:35241646   PMID:35271311   PMID:35439318   PMID:35785414  
PMID:35831314   PMID:35906200   PMID:36168628   PMID:36215168   PMID:36217030   PMID:36880596   PMID:37689310   PMID:37827155   PMID:37999979   PMID:38280479  


Genomics

Comparative Map Data
MED23
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386131,573,966 - 131,628,313 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6131,573,966 - 131,628,242 (-)EnsemblGRCh38hg38GRCh38
GRCh376131,895,106 - 131,949,453 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366131,936,799 - 131,991,056 (-)NCBINCBI36Build 36hg18NCBI36
Build 346131,936,799 - 131,991,056NCBI
Celera6132,641,744 - 132,696,002 (-)NCBICelera
Cytogenetic Map6q23.2NCBI
HuRef6129,476,289 - 129,531,194 (-)NCBIHuRef
CHM1_16132,158,892 - 132,213,170 (-)NCBICHM1_1
T2T-CHM13v2.06132,768,443 - 132,822,783 (-)NCBIT2T-CHM13v2.0
Med23
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391024,745,889 - 24,789,358 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1024,745,884 - 24,789,579 (+)EnsemblGRCm39 Ensembl
GRCm381024,869,986 - 24,913,529 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1024,869,986 - 24,913,681 (+)EnsemblGRCm38mm10GRCm38
MGSCv371024,589,792 - 24,633,335 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361024,559,463 - 24,602,876 (+)NCBIMGSCv36mm8
Celera1025,800,708 - 25,844,502 (+)NCBICelera
Cytogenetic Map10A4NCBI
cM Map1012.26NCBI
Med23
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8122,309,613 - 22,377,745 (-)NCBIGRCr8
mRatBN7.2120,490,315 - 20,558,461 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl120,490,315 - 20,537,463 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx120,266,984 - 20,314,129 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0126,266,973 - 26,314,118 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0120,466,878 - 20,514,023 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0121,539,765 - 21,587,675 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl121,539,765 - 21,586,910 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0123,019,607 - 23,067,752 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4121,013,168 - 21,060,313 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1121,013,763 - 21,065,733 (-)NCBI
Celera119,242,971 - 19,290,165 (-)NCBICelera
Cytogenetic Map1p12NCBI
Med23
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543612,249,995 - 12,293,813 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543612,249,995 - 12,293,812 (-)NCBIChiLan1.0ChiLan1.0
MED23
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25151,592,256 - 151,634,143 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16149,498,888 - 149,540,825 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06129,386,301 - 129,428,120 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16133,493,587 - 133,535,337 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6133,481,115 - 133,535,988 (-)Ensemblpanpan1.1panPan2
MED23
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.112195,638 - 240,741 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl12195,726 - 240,516 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha12333,600 - 378,570 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.012339,155 - 384,349 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl12339,124 - 418,391 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.112195,971 - 241,018 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.012266,817 - 311,872 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.012337,561 - 382,633 (+)NCBIUU_Cfam_GSD_1.0
Med23
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946119,962,645 - 120,004,052 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004937067849 - 41,298 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493706714 - 41,438 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MED23
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl131,959,934 - 32,001,581 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1131,959,934 - 32,001,591 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2135,469,173 - 35,507,325 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MED23
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11341,927,266 - 41,969,120 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1341,927,308 - 41,969,447 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604014,088,466 - 14,130,261 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Med23
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247535,751,779 - 5,799,413 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247535,751,782 - 5,799,305 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MED23
548 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004830.4(MED23):c.1832G>A (p.Arg611Gln) single nucleotide variant Intellectual disability, autosomal recessive 18 [RCV000023395]|not provided [RCV000485359] Chr6:131603129 [GRCh38]
Chr6:131924269 [GRCh37]
Chr6:6q23.2		 pathogenic|likely pathogenic
NM_015979.3(MED23):c.3958-488C>T single nucleotide variant Lung cancer [RCV000096530] Chr6:131588334 [GRCh38]
Chr6:131909474 [GRCh37]
Chr6:6q23.2		 uncertain significance
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2		 pathogenic
NM_015979.3(MED23):c.1403T>C (p.Leu468Pro) single nucleotide variant Malignant melanoma [RCV000067123] Chr6:131605468 [GRCh38]
Chr6:131926608 [GRCh37]
Chr6:131968301 [NCBI36]
Chr6:6q23.2		 not provided
NM_015979.3(MED23):c.1376T>C (p.Leu459Pro) single nucleotide variant Malignant melanoma [RCV000067124] Chr6:131606488 [GRCh38]
Chr6:131927628 [GRCh37]
Chr6:131969321 [NCBI36]
Chr6:6q23.2		 not provided
NM_004830.4(MED23):c.367C>T (p.Arg123Trp) single nucleotide variant Inborn genetic diseases [RCV002458174]|Intellectual disability, autosomal recessive 18 [RCV000660483] Chr6:131623380 [GRCh38]
Chr6:131944520 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter) single nucleotide variant Arginase deficiency [RCV000002489] Chr6:131583810 [GRCh38]
Chr6:131904950 [GRCh37]
Chr6:6q23.2		 pathogenic|likely pathogenic
NM_000045.4(ARG1):c.869C>G (p.Thr290Ser) single nucleotide variant Arginase deficiency [RCV000002490] Chr6:131583808 [GRCh38]
Chr6:131904948 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.365G>A (p.Trp122Ter) single nucleotide variant Arginase deficiency [RCV000002491]|not provided [RCV000480650] Chr6:131581278 [GRCh38]
Chr6:131902418 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.703G>C (p.Gly235Arg) single nucleotide variant Arginase deficiency [RCV000002492] Chr6:131583392 [GRCh38]
Chr6:131904532 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.413G>T (p.Gly138Val) single nucleotide variant Arginase deficiency [RCV000002495] Chr6:131581326 [GRCh38]
Chr6:131902466 [GRCh37]
Chr6:6q23.2		 pathogenic|uncertain significance
NM_000045.4(ARG1):c.61C>T (p.Arg21Ter) single nucleotide variant Arginase deficiency [RCV000002498]|Inborn genetic diseases [RCV002512678]|not provided [RCV000421601] Chr6:131576666 [GRCh38]
Chr6:131897806 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_004830.4(MED23):c.3312T>C (p.Ala1104=) single nucleotide variant Inborn genetic diseases [RCV002312184]|not specified [RCV000117615] Chr6:131593092 [GRCh38]
Chr6:131914232 [GRCh37]
Chr6:6q23.2		 benign|likely benign
NM_000045.4(ARG1):c.270C>T (p.Asn90=) single nucleotide variant Arginase deficiency [RCV000296734]|Intellectual disability, autosomal recessive 18 [RCV000615489]|not specified [RCV000123688] Chr6:131579250 [GRCh38]
Chr6:131900390 [GRCh37]
Chr6:6q23.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004830.4(MED23):c.479T>C (p.Leu160Pro) single nucleotide variant Intellectual disability, autosomal recessive 18 [RCV003987416]|not provided [RCV000171402] Chr6:131621897 [GRCh38]
Chr6:131943037 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.368T>G (p.Val123Gly) single nucleotide variant Arginase deficiency [RCV001998587] Chr6:131581281 [GRCh38]
Chr6:131902421 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.370G>T (p.Asp124Tyr) single nucleotide variant Arginase deficiency [RCV001332127] Chr6:131581283 [GRCh38]
Chr6:131902423 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.3638A>G (p.His1213Arg) single nucleotide variant Intellectual disability, autosomal recessive 18 [RCV000132726] Chr6:131591361 [GRCh38]
Chr6:131912501 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter) single nucleotide variant Intellectual disability, autosomal recessive 18 [RCV000132727]|not provided [RCV001550827] Chr6:131587798 [GRCh38]
Chr6:131908938 [GRCh37]
Chr6:6q23.2		 pathogenic
GRCh38/hg38 6q23.2(chr6:131477455-131596004)x3 copy number gain See cases [RCV000140296] Chr6:131477455..131596004 [GRCh38]
Chr6:131798595..131917144 [GRCh37]
Chr6:131840288..131958837 [NCBI36]
Chr6:6q23.2		 likely benign
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q22.33-23.2(chr6:129191313-132131620)x1 copy number loss See cases [RCV000142349] Chr6:129191313..132131620 [GRCh38]
Chr6:129512458..132452760 [GRCh37]
Chr6:129554151..132494453 [NCBI36]
Chr6:6q22.33-23.2		 likely pathogenic
NM_004830.4(MED23):c.495+15dup duplication not provided [RCV000514888] Chr6:131621865..131621866 [GRCh38]
Chr6:131943005..131943006 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.40-18dup duplication Inborn genetic diseases [RCV002311316]|not specified [RCV000202867] Chr6:131627676..131627677 [GRCh38]
Chr6:131948816..131948817 [GRCh37]
Chr6:6q23.2		 benign|likely benign
GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1 copy number loss See cases [RCV000142805] Chr6:126494533..132497855 [GRCh38]
Chr6:126815679..132818994 [GRCh37]
Chr6:126857372..132860687 [NCBI36]
Chr6:6q22.32-23.2		 likely pathogenic
NM_004830.4(MED23):c.3860A>G (p.His1287Arg) single nucleotide variant Inborn genetic diseases [RCV002314834]|not specified [RCV000192621] Chr6:131589544 [GRCh38]
Chr6:131910684 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.3410T>A (p.Val1137Glu) single nucleotide variant Inborn genetic diseases [RCV002517953]|not specified [RCV000192639] Chr6:131592449 [GRCh38]
Chr6:131913589 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.452C>G (p.Thr151Arg) single nucleotide variant Inborn genetic diseases [RCV002336515]|not specified [RCV000193448] Chr6:131621924 [GRCh38]
Chr6:131943064 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.3819G>A (p.Ala1273=) single nucleotide variant Inborn genetic diseases [RCV002317698]|not provided [RCV000960889]|not specified [RCV000194387] Chr6:131589585 [GRCh38]
Chr6:131910725 [GRCh37]
Chr6:6q23.2		 benign|uncertain significance
NM_004830.4(MED23):c.235C>T (p.Leu79Phe) single nucleotide variant Intellectual disability, autosomal recessive 18 [RCV001334890]|not provided [RCV003430744]|not specified [RCV000194425] Chr6:131624914 [GRCh38]
Chr6:131946054 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.952G>A (p.Glu318Lys) single nucleotide variant not specified [RCV000192861] Chr6:131610171 [GRCh38]
Chr6:131931311 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.3807+5A>G single nucleotide variant not specified [RCV000193539] Chr6:131590317 [GRCh38]
Chr6:131911457 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.495+1G>A single nucleotide variant not specified [RCV000194658] Chr6:131621880 [GRCh38]
Chr6:131943020 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.272dup (p.Arg92fs) duplication Arginase deficiency [RCV000666741]|not provided [RCV000185755] Chr6:131579250..131579251 [GRCh38]
Chr6:131900390..131900391 [GRCh37]
Chr6:6q23.2		 pathogenic|likely pathogenic
NM_004830.4(MED23):c.168T>C (p.His56=) single nucleotide variant Inborn genetic diseases [RCV002312459] Chr6:131624981 [GRCh38]
Chr6:131946121 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.1932-1G>A single nucleotide variant not provided [RCV000224387] Chr6:131602382 [GRCh38]
Chr6:131923522 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.2221-3T>C single nucleotide variant not specified [RCV000238843] Chr6:131598764 [GRCh38]
Chr6:131919904 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.212G>C (p.Arg71Thr) single nucleotide variant Arginase deficiency [RCV000670052] Chr6:131579192 [GRCh38]
Chr6:131900332 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.62G>A (p.Arg21Gln) single nucleotide variant Arginase deficiency [RCV000709774]|not provided [RCV001698470] Chr6:131576667 [GRCh38]
Chr6:131897807 [GRCh37]
Chr6:6q23.2		 likely benign|uncertain significance|not provided
NM_000045.4(ARG1):c.435_437dup (p.Ser146_Phe147insSer) duplication Arginase deficiency [RCV000669533] Chr6:131581347..131581348 [GRCh38]
Chr6:131902487..131902488 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.*310A>G single nucleotide variant Arginase deficiency [RCV000403949] Chr6:131584218 [GRCh38]
Chr6:131905358 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.75A>G (p.Glu25=) single nucleotide variant Arginase deficiency [RCV000388499]|not provided [RCV001706588] Chr6:131576680 [GRCh38]
Chr6:131897820 [GRCh37]
Chr6:6q23.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000045.4(ARG1):c.944T>C (p.Ile315Thr) single nucleotide variant Arginase deficiency [RCV000281645]|not provided [RCV003325480] Chr6:131583883 [GRCh38]
Chr6:131905023 [GRCh37]
Chr6:6q23.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004830.4(MED23):c.124G>A (p.Gly42Arg) single nucleotide variant not provided [RCV000597567] Chr6:131627431 [GRCh38]
Chr6:131948571 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.465+101G>A single nucleotide variant not provided [RCV001546424] Chr6:131581479 [GRCh38]
Chr6:131902619 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.709G>A (p.Asp237Asn) single nucleotide variant Arginase deficiency [RCV001851319]|not provided [RCV000489823] Chr6:131583398 [GRCh38]
Chr6:131904538 [GRCh37]
Chr6:6q23.2		 likely pathogenic|uncertain significance
NM_000045.4(ARG1):c.305+7T>C single nucleotide variant Arginase deficiency [RCV000330678] Chr6:131579292 [GRCh38]
Chr6:131900432 [GRCh37]
Chr6:6q23.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000045.4(ARG1):c.*73A>G single nucleotide variant Arginase deficiency [RCV000334406] Chr6:131583981 [GRCh38]
Chr6:131905121 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.566T>A (p.Ile189Asn) single nucleotide variant Arginase deficiency [RCV000387442] Chr6:131583065 [GRCh38]
Chr6:131904205 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.3939+5G>A single nucleotide variant not provided [RCV000579298] Chr6:131589460 [GRCh38]
Chr6:131910600 [GRCh37]
Chr6:6q23.2		 likely pathogenic
GRCh37/hg19 6q23.2(chr6:131703293-132212694)x3 copy number gain See cases [RCV000599566] Chr6:131703293..132212694 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.83C>T (p.Pro28Leu) single nucleotide variant not provided [RCV000415939] Chr6:131576688 [GRCh38]
Chr6:131897828 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.2528T>G (p.Leu843Arg) single nucleotide variant not provided [RCV000523975] Chr6:131598366 [GRCh38]
Chr6:131919506 [GRCh37]
Chr6:6q23.2		 uncertain significance
GRCh37/hg19 6q23.2(chr6:131624204-132219490)x3 copy number gain See cases [RCV000447116] Chr6:131624204..132219490 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.621A>C (p.Gly207=) single nucleotide variant Arginase deficiency [RCV001433435]|not specified [RCV000425457] Chr6:131583120 [GRCh38]
Chr6:131904260 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.131-11T>C single nucleotide variant not specified [RCV000439574] Chr6:131579100 [GRCh38]
Chr6:131900240 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.561-9_561-8del microsatellite Arginase deficiency [RCV002063721]|not specified [RCV000483892] Chr6:131583048..131583049 [GRCh38]
Chr6:131904188..131904189 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.597+1G>T single nucleotide variant not provided [RCV000482192] Chr6:131620627 [GRCh38]
Chr6:131941767 [GRCh37]
Chr6:6q23.2		 pathogenic|likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_000045.4(ARG1):c.466-1G>C single nucleotide variant Arginase deficiency [RCV000666865]|not provided [RCV000484167] Chr6:131582620 [GRCh38]
Chr6:131903760 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg) single nucleotide variant Arginase deficiency [RCV000667889]|not provided [RCV000485579] Chr6:131583392 [GRCh38]
Chr6:131904532 [GRCh37]
Chr6:6q23.2		 pathogenic|likely pathogenic
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) single nucleotide variant Arginase deficiency [RCV000668053]|not provided [RCV000482365] Chr6:131583831 [GRCh38]
Chr6:131904971 [GRCh37]
Chr6:6q23.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_004830.4(MED23):c.2814G>A (p.Ala938=) single nucleotide variant Inborn genetic diseases [RCV002311822]|not provided [RCV000960258]|not specified [RCV000501406] Chr6:131596128 [GRCh38]
Chr6:131917268 [GRCh37]
Chr6:6q23.2		 benign|likely benign
NM_004830.4(MED23):c.1206A>G (p.Leu402=) single nucleotide variant not specified [RCV000503805] Chr6:131607943 [GRCh38]
Chr6:131929083 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.670C>G (p.Arg224Gly) single nucleotide variant Intellectual disability, autosomal recessive 18 [RCV000504438] Chr6:131618517 [GRCh38]
Chr6:131939657 [GRCh37]
Chr6:6q23.2		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_004830.4(MED23):c.3963A>T (p.Leu1321Phe) single nucleotide variant Inborn genetic diseases [RCV002376924]|Intellectual disability, autosomal recessive 18 [RCV002490837]|not specified [RCV000501927] Chr6:131587823 [GRCh38]
Chr6:131908963 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.2417T>C (p.Ile806Thr) single nucleotide variant Intellectual disability, autosomal recessive 18 [RCV000509436] Chr6:131598565 [GRCh38]
Chr6:131919705 [GRCh37]
Chr6:6q23.2		 not provided
NM_004830.4(MED23):c.599T>G (p.Leu200Ter) single nucleotide variant not provided [RCV000498023] Chr6:131619895 [GRCh38]
Chr6:131941035 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.3669A>G (p.Gln1223=) single nucleotide variant Inborn genetic diseases [RCV002455968]|not specified [RCV000500333] Chr6:131591330 [GRCh38]
Chr6:131912470 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.3077T>C (p.Leu1026Pro) single nucleotide variant not specified [RCV000500459] Chr6:131594254 [GRCh38]
Chr6:131915394 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.4080G>T (p.Val1360=) single nucleotide variant Inborn genetic diseases [RCV002314854]|Intellectual disability, autosomal recessive 18 [RCV000764639]|MED23-related condition [RCV003915352]|not provided [RCV000498630] Chr6:131587706 [GRCh38]
Chr6:131908846 [GRCh37]
Chr6:6q23.2		 benign|likely benign|uncertain significance
GRCh37/hg19 6q23.2(chr6:131605284-132219490)x1 copy number loss See cases [RCV000511614] Chr6:131605284..132219490 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.640_643dup (p.Thr215fs) duplication Arginase deficiency [RCV000669017] Chr6:131583136..131583137 [GRCh38]
Chr6:131904276..131904277 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.938del (p.Lys313fs) deletion Arginase deficiency [RCV000556422] Chr6:131583876 [GRCh38]
Chr6:131905016 [GRCh37]
Chr6:6q23.2		 pathogenic|likely pathogenic
NM_000045.4(ARG1):c.207T>G (p.Asn69Lys) single nucleotide variant Arginase deficiency [RCV000634864] Chr6:131579187 [GRCh38]
Chr6:131900327 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.973G>A (p.Gly325Arg) single nucleotide variant Inborn genetic diseases [RCV003281409] Chr6:131610150 [GRCh38]
Chr6:131931290 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.306-612C>T single nucleotide variant not specified [RCV000602085] Chr6:131580607 [GRCh38]
Chr6:131901747 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.912C>T (p.Phe304=) single nucleotide variant Arginase deficiency [RCV000914514]|not specified [RCV000607924] Chr6:131583851 [GRCh38]
Chr6:131904991 [GRCh37]
Chr6:6q23.2		 benign|likely benign
GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626432] Chr6:112939290..132327952 [GRCh37]
Chr6:6q21-23.2		 drug response
NM_000045.4(ARG1):c.241G>A (p.Ala81Thr) single nucleotide variant Arginase deficiency [RCV000634866] Chr6:131579221 [GRCh38]
Chr6:131900361 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.543C>T (p.Asp181=) single nucleotide variant Arginase deficiency [RCV000975704]|not specified [RCV000606744] Chr6:131582698 [GRCh38]
Chr6:131903838 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu) single nucleotide variant Arginase deficiency [RCV000671959] Chr6:131581338 [GRCh38]
Chr6:131902478 [GRCh37]
Chr6:6q23.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000045.4(ARG1):c.575_577dup (p.Thr192_Leu193insPro) duplication Arginase deficiency [RCV000672844] Chr6:131583073..131583074 [GRCh38]
Chr6:131904213..131904214 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.422A>T (p.His141Leu) single nucleotide variant Arginase deficiency [RCV000673618] Chr6:131581335 [GRCh38]
Chr6:131902475 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.130+1G>T single nucleotide variant Arginase deficiency [RCV000671671] Chr6:131576736 [GRCh38]
Chr6:131897876 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.959_962del (p.Pro320fs) deletion Arginase deficiency [RCV000671642] Chr6:131583895..131583898 [GRCh38]
Chr6:131905035..131905038 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.2368_2371del (p.Leu790fs) microsatellite Intellectual disability, autosomal recessive 18 [RCV000677705] Chr6:131598611..131598614 [GRCh38]
Chr6:131919751..131919754 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln) single nucleotide variant Arginase deficiency [RCV000665488] Chr6:131583862 [GRCh38]
Chr6:131905002 [GRCh37]
Chr6:6q23.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000045.4(ARG1):c.129del (p.Glu44fs) deletion ARG1-related condition [RCV003907934]|Arginase deficiency [RCV000674133] Chr6:131576733 [GRCh38]
Chr6:131897873 [GRCh37]
Chr6:6q23.2		 pathogenic|likely pathogenic
NM_000045.4(ARG1):c.787G>T (p.Glu263Ter) single nucleotide variant Arginase deficiency [RCV000674156] Chr6:131583476 [GRCh38]
Chr6:131904616 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.2316C>T (p.Asn772=) single nucleotide variant Inborn genetic diseases [RCV002314438]|not provided [RCV000965353] Chr6:131598666 [GRCh38]
Chr6:131919806 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.131-9dup duplication Arginase deficiency [RCV000674392] Chr6:131579097..131579098 [GRCh38]
Chr6:131900237..131900238 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.767_769del (p.Glu256del) deletion Arginase deficiency [RCV000665961] Chr6:131583454..131583456 [GRCh38]
Chr6:131904594..131904596 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.3030C>T (p.His1010=) single nucleotide variant Inborn genetic diseases [RCV002316082] Chr6:131594301 [GRCh38]
Chr6:131915441 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.3234G>A (p.Thr1078=) single nucleotide variant Inborn genetic diseases [RCV002316148] Chr6:131593170 [GRCh38]
Chr6:131914310 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.372dup (p.Ala125fs) duplication Arginase deficiency [RCV000669434] Chr6:131581284..131581285 [GRCh38]
Chr6:131902424..131902425 [GRCh37]
Chr6:6q23.2		 pathogenic|likely pathogenic
NM_000045.4(ARG1):c.124_126del (p.Glu42del) deletion Arginase deficiency [RCV000669570] Chr6:131576727..131576729 [GRCh38]
Chr6:131897867..131897869 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.874del (p.Thr292fs) deletion Arginase deficiency [RCV000670532] Chr6:131583812 [GRCh38]
Chr6:131904952 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.466-2A>G single nucleotide variant Arginase deficiency [RCV000673724] Chr6:131582619 [GRCh38]
Chr6:131903759 [GRCh37]
Chr6:6q23.2		 pathogenic|likely pathogenic
NM_000045.4(ARG1):c.860AAG[1] (p.Glu288del) microsatellite Arginase deficiency [RCV000665205] Chr6:131583797..131583799 [GRCh38]
Chr6:131904937..131904939 [GRCh37]
Chr6:6q23.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000045.4(ARG1):c.131-7_131-2del deletion Arginase deficiency [RCV000667937] Chr6:131579099..131579104 [GRCh38]
Chr6:131900239..131900244 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.3701T>C (p.Val1234Ala) single nucleotide variant Inborn genetic diseases [RCV002316821] Chr6:131590428 [GRCh38]
Chr6:131911568 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg) single nucleotide variant Arginase deficiency [RCV000666611]|not provided [RCV003228976] Chr6:131579275 [GRCh38]
Chr6:131900415 [GRCh37]
Chr6:6q23.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1 copy number loss not provided [RCV000682724] Chr6:131388023..137469640 [GRCh37]
Chr6:6q23.2-23.3		 pathogenic
NM_000045.4(ARG1):c.945dup (p.Asp316Ter) duplication Arginase deficiency [RCV000668669] Chr6:131583882..131583883 [GRCh38]
Chr6:131905022..131905023 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.693del (p.Phe231fs) deletion Arginase deficiency [RCV000674834] Chr6:131583379 [GRCh38]
Chr6:131904519 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.560+5G>A single nucleotide variant Arginase deficiency [RCV000672772] Chr6:131582720 [GRCh38]
Chr6:131903860 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.58-2A>C single nucleotide variant Arginase deficiency [RCV000664471] Chr6:131576661 [GRCh38]
Chr6:131897801 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.80G>A (p.Gly27Asp) single nucleotide variant Arginase deficiency [RCV000665999] Chr6:131576685 [GRCh38]
Chr6:131897825 [GRCh37]
Chr6:6q23.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000045.4(ARG1):c.913G>C (p.Gly305Arg) single nucleotide variant Arginase deficiency [RCV000664784] Chr6:131583852 [GRCh38]
Chr6:131904992 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.913G>A (p.Gly305Arg) single nucleotide variant Arginase deficiency [RCV000667699] Chr6:131583852 [GRCh38]
Chr6:131904992 [GRCh37]
Chr6:6q23.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000045.4(ARG1):c.130G>C (p.Glu44Gln) single nucleotide variant Arginase deficiency [RCV000692881] Chr6:131576735 [GRCh38]
Chr6:131897875 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.599_601del (p.Met200del) deletion Arginase deficiency [RCV000692884] Chr6:131583097..131583099 [GRCh38]
Chr6:131904237..131904239 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.40-5del deletion Inborn genetic diseases [RCV002312463] Chr6:131627677 [GRCh38]
Chr6:131948817 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.189del (p.Gln65fs) deletion Arginase deficiency [RCV000701044] Chr6:131579167 [GRCh38]
Chr6:131900307 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.769G>C (p.Gly257Arg) single nucleotide variant Arginase deficiency [RCV000707110] Chr6:131583458 [GRCh38]
Chr6:131904598 [GRCh37]
Chr6:6q23.2		 likely pathogenic|uncertain significance
NM_000045.4(ARG1):c.308T>C (p.Leu103Ser) single nucleotide variant Arginase deficiency [RCV000703289]|Inborn genetic diseases [RCV002536370] Chr6:131581221 [GRCh38]
Chr6:131902361 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.844del (p.Leu282fs) deletion Arginase deficiency [RCV000002493] Chr6:131583781 [GRCh38]
Chr6:131904921 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_004830.4(MED23):c.3742G>A (p.Val1248Ile) single nucleotide variant Inborn genetic diseases [RCV002312389]|MED23-related condition [RCV003945736] Chr6:131590387 [GRCh38]
Chr6:131911527 [GRCh37]
Chr6:6q23.2		 likely benign|uncertain significance
NM_004830.4(MED23):c.2529C>A (p.Leu843=) single nucleotide variant Inborn genetic diseases [RCV002312474]|not provided [RCV003424306]|not specified [RCV001816751] Chr6:131598365 [GRCh38]
Chr6:131919505 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.2493A>G (p.Val831=) single nucleotide variant Inborn genetic diseases [RCV002315335] Chr6:131598401 [GRCh38]
Chr6:131919541 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.780+4T>A single nucleotide variant Inborn genetic diseases [RCV002315338] Chr6:131618403 [GRCh38]
Chr6:131939543 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.2682C>T (p.Asn894=) single nucleotide variant Inborn genetic diseases [RCV002316895] Chr6:131596614 [GRCh38]
Chr6:131917754 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.2149C>G (p.Gln717Glu) single nucleotide variant Inborn genetic diseases [RCV002316823] Chr6:131600109 [GRCh38]
Chr6:131921249 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.472G>A (p.Asp158Asn) single nucleotide variant Arginase deficiency [RCV001873764]|not provided [RCV001531022] Chr6:131582627 [GRCh38]
Chr6:131903767 [GRCh37]
Chr6:6q23.2		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_004830.4(MED23):c.534A>G (p.Leu178=) single nucleotide variant not provided [RCV000980307] Chr6:131620691 [GRCh38]
Chr6:131941831 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.988C>T (p.Leu330=) single nucleotide variant Inborn genetic diseases [RCV002416134]|not provided [RCV000916624] Chr6:131610135 [GRCh38]
Chr6:131931275 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter) single nucleotide variant Intellectual disability, autosomal recessive 18 [RCV001290680]|not provided [RCV000760883] Chr6:131593051 [GRCh38]
Chr6:131914191 [GRCh37]
Chr6:6q23.2		 pathogenic|likely pathogenic
NM_000045.4(ARG1):c.856C>A (p.Pro286Thr) single nucleotide variant Arginase deficiency [RCV001065307] Chr6:131583795 [GRCh38]
Chr6:131904935 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.3060A>G (p.Ala1020=) single nucleotide variant not provided [RCV000906057] Chr6:131594271 [GRCh38]
Chr6:131915411 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.459C>T (p.Ser153=) single nucleotide variant Inborn genetic diseases [RCV002336884]|MED23-related condition [RCV003950609]|not provided [RCV000903475] Chr6:131621917 [GRCh38]
Chr6:131943057 [GRCh37]
Chr6:6q23.2		 benign|likely benign
NM_004830.4(MED23):c.2937G>A (p.Pro979=) single nucleotide variant not provided [RCV000927038] Chr6:131596005 [GRCh38]
Chr6:131917145 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.953T>C (p.Leu318Pro) single nucleotide variant ARG1-related condition [RCV003928381]|Arginase deficiency [RCV000865497]|not provided [RCV001593078] Chr6:131583892 [GRCh38]
Chr6:131905032 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.225A>G (p.Arg75=) single nucleotide variant not provided [RCV000929141] Chr6:131624924 [GRCh38]
Chr6:131946064 [GRCh37]
Chr6:6q23.2		 likely benign
GRCh37/hg19 6q22.33-23.2(chr6:129513837-132618991) copy number loss not provided [RCV000767715] Chr6:129513837..132618991 [GRCh37]
Chr6:6q22.33-23.2		 likely pathogenic
NM_000045.4(ARG1):c.142A>T (p.Lys48Ter) single nucleotide variant Arginase deficiency [RCV001050878] Chr6:131579122 [GRCh38]
Chr6:131900262 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly) single nucleotide variant Arginase deficiency [RCV000779489] Chr6:131581296 [GRCh38]
Chr6:131902436 [GRCh37]
Chr6:6q23.2		 pathogenic|likely pathogenic
NM_000045.4(ARG1):c.150T>C (p.Tyr50=) single nucleotide variant Arginase deficiency [RCV000983627] Chr6:131579130 [GRCh38]
Chr6:131900270 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.336C>T (p.Ala112=) single nucleotide variant Arginase deficiency [RCV003497886] Chr6:131581249 [GRCh38]
Chr6:131902389 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.474T>C (p.Asp158=) single nucleotide variant Arginase deficiency [RCV000864292] Chr6:131582629 [GRCh38]
Chr6:131903769 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.3243C>G (p.Gly1081=) single nucleotide variant not provided [RCV000904437] Chr6:131593161 [GRCh38]
Chr6:131914301 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.3228C>T (p.Val1076=) single nucleotide variant Inborn genetic diseases [RCV002320073]|MED23-related condition [RCV003958034]|not provided [RCV000895858] Chr6:131594103 [GRCh38]
Chr6:131915243 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.840A>C (p.Pro280=) single nucleotide variant Arginase deficiency [RCV001432432] Chr6:131583779 [GRCh38]
Chr6:131904919 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.2811C>T (p.Leu937=) single nucleotide variant not provided [RCV000894996] Chr6:131596131 [GRCh38]
Chr6:131917271 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.305+8T>C single nucleotide variant Arginase deficiency [RCV000916148] Chr6:131579293 [GRCh38]
Chr6:131900433 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.612C>A (p.Asp204Glu) single nucleotide variant ARG1-related condition [RCV003411807]|Arginase deficiency [RCV000817567] Chr6:131583111 [GRCh38]
Chr6:131904251 [GRCh37]
Chr6:6q23.2		 pathogenic|uncertain significance
NC_000006.12:g.(?_131576653)_(131583918_?)del deletion Arginase deficiency [RCV000814626] Chr6:131576653..131583918 [GRCh38]
Chr6:131897793..131905058 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.702C>T (p.Asp234=) single nucleotide variant Arginase deficiency [RCV001435507]|not provided [RCV000840131] Chr6:131583391 [GRCh38]
Chr6:131904531 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.234G>A (p.Glu78=) single nucleotide variant Arginase deficiency [RCV000870964] Chr6:131579214 [GRCh38]
Chr6:131900354 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.646_649del (p.Leu216fs) deletion Arginase deficiency [RCV000987782] Chr6:131583143..131583146 [GRCh38]
Chr6:131904283..131904286 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.811_812del (p.Ser271fs) microsatellite Arginase deficiency [RCV000805737] Chr6:131583747..131583748 [GRCh38]
Chr6:131904887..131904888 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.342C>T (p.Val114=) single nucleotide variant Arginase deficiency [RCV000893566] Chr6:131581255 [GRCh38]
Chr6:131902395 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.425del (p.Gly142fs) deletion Arginase deficiency [RCV000814071] Chr6:131581337 [GRCh38]
Chr6:131902477 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.333T>C (p.His111=) single nucleotide variant Arginase deficiency [RCV001402360]|not provided [RCV000841362] Chr6:131581246 [GRCh38]
Chr6:131902386 [GRCh37]
Chr6:6q23.2		 likely benign
GRCh37/hg19 6q23.2(chr6:131673206-132706248)x1 copy number loss not provided [RCV000848451] Chr6:131673206..132706248 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.666-2A>G single nucleotide variant not provided [RCV001091213] Chr6:131583353 [GRCh38]
Chr6:131904493 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.928G>T (p.Gly310Cys) single nucleotide variant Arginase deficiency [RCV001151467] Chr6:131583867 [GRCh38]
Chr6:131905007 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.742G>C (p.Val248Leu) single nucleotide variant Arginase deficiency [RCV001066723] Chr6:131583431 [GRCh38]
Chr6:131904571 [GRCh37]
Chr6:6q23.2		 uncertain significance
GRCh37/hg19 6q23.2(chr6:131905716-131915353)x1 copy number loss not provided [RCV000849384] Chr6:131905716..131915353 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.745G>C (p.Val249Leu) single nucleotide variant Arginase deficiency [RCV001240670] Chr6:131583434 [GRCh38]
Chr6:131904574 [GRCh37]
Chr6:6q23.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000045.4(ARG1):c.434T>A (p.Val145Glu) single nucleotide variant Arginase deficiency [RCV001172232] Chr6:131581347 [GRCh38]
Chr6:131902487 [GRCh37]
Chr6:6q23.2		 pathogenic|uncertain significance
NM_004830.4(MED23):c.4076A>C (p.Gln1359Pro) single nucleotide variant Inborn genetic diseases [RCV003270747] Chr6:131587710 [GRCh38]
Chr6:131908850 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.317G>A (p.Gly106Glu) single nucleotide variant Arginase deficiency [RCV000987780] Chr6:131581230 [GRCh38]
Chr6:131902370 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys) single nucleotide variant Inborn genetic diseases [RCV003380799]|Intellectual disability, autosomal recessive 18 [RCV000987783]|Neurodevelopmental disorder [RCV001779096] Chr6:131587804 [GRCh38]
Chr6:131908944 [GRCh37]
Chr6:6q23.2		 likely pathogenic|uncertain significance
NM_000045.4(ARG1):c.505A>G (p.Ile169Val) single nucleotide variant Arginase deficiency [RCV003118159] Chr6:131582660 [GRCh38]
Chr6:131903800 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.314T>C (p.Ile105Thr) single nucleotide variant Arginase deficiency [RCV003112941] Chr6:131581227 [GRCh38]
Chr6:131902367 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.428A>G (p.Gln143Arg) single nucleotide variant Arginase deficiency [RCV001544512] Chr6:131581341 [GRCh38]
Chr6:131902481 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.2750G>A (p.Trp917Ter) single nucleotide variant not provided [RCV001585297] Chr6:131596546 [GRCh38]
Chr6:131917686 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.560+100AC[9] microsatellite not provided [RCV001654066] Chr6:131582814..131582815 [GRCh38]
Chr6:131903954..131903955 [GRCh37]
Chr6:6q23.2		 benign
NM_000045.4(ARG1):c.306-30G>A single nucleotide variant not provided [RCV001651373] Chr6:131581189 [GRCh38]
Chr6:131902329 [GRCh37]
Chr6:6q23.2		 benign
NM_000045.4(ARG1):c.305+94G>T single nucleotide variant not provided [RCV001611079] Chr6:131579379 [GRCh38]
Chr6:131900519 [GRCh37]
Chr6:6q23.2		 benign
NM_000045.4(ARG1):c.306-553T>C single nucleotide variant not provided [RCV001556853] Chr6:131580666 [GRCh38]
Chr6:131901806 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.306-119_306-116dup duplication not provided [RCV001716264] Chr6:131581099..131581100 [GRCh38]
Chr6:131902239..131902240 [GRCh37]
Chr6:6q23.2		 benign
NM_000045.4(ARG1):c.306-460_306-459dup duplication not provided [RCV001639964] Chr6:131580758..131580759 [GRCh38]
Chr6:131901898..131901899 [GRCh37]
Chr6:6q23.2		 benign
NM_000045.4(ARG1):c.803-8T>C single nucleotide variant Arginase deficiency [RCV000907048]|not provided [RCV001799714] Chr6:131583734 [GRCh38]
Chr6:131904874 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.2034A>G (p.Ala678=) single nucleotide variant Inborn genetic diseases [RCV002416119]|not provided [RCV000907190]|not specified [RCV001818799] Chr6:131602279 [GRCh38]
Chr6:131923419 [GRCh37]
Chr6:6q23.2		 benign|likely benign
NM_000045.4(ARG1):c.594T>C (p.Phe198=) single nucleotide variant Arginase deficiency [RCV000873257]|not provided [RCV003424414] Chr6:131583093 [GRCh38]
Chr6:131904233 [GRCh37]
Chr6:6q23.2		 benign
NM_000045.4(ARG1):c.687A>G (p.Leu229=) single nucleotide variant Arginase deficiency [RCV001394555] Chr6:131583376 [GRCh38]
Chr6:131904516 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.738T>C (p.Ala246=) single nucleotide variant not provided [RCV000930150] Chr6:131618449 [GRCh38]
Chr6:131939589 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.525G>A (p.Val175=) single nucleotide variant ARG1-related condition [RCV003948395]|Arginase deficiency [RCV001476852] Chr6:131582680 [GRCh38]
Chr6:131903820 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.3399-9C>T single nucleotide variant not provided [RCV000975127] Chr6:131592469 [GRCh38]
Chr6:131913609 [GRCh37]
Chr6:6q23.2		 benign
NM_004830.4(MED23):c.2898A>G (p.Val966=) single nucleotide variant not provided [RCV000913865] Chr6:131596044 [GRCh38]
Chr6:131917184 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.131-265C>T single nucleotide variant not provided [RCV001620757] Chr6:131578846 [GRCh38]
Chr6:131899986 [GRCh37]
Chr6:6q23.2		 benign
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile) single nucleotide variant Arginase deficiency [RCV000987781]|See cases [RCV002252281] Chr6:131581317 [GRCh38]
Chr6:131902457 [GRCh37]
Chr6:6q23.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000045.4(ARG1):c.131-107G>A single nucleotide variant not provided [RCV001717009] Chr6:131579004 [GRCh38]
Chr6:131900144 [GRCh37]
Chr6:6q23.2		 benign
NM_000045.4(ARG1):c.131-106C>T single nucleotide variant not provided [RCV001594740] Chr6:131579005 [GRCh38]
Chr6:131900145 [GRCh37]
Chr6:6q23.2		 benign
NM_000045.4(ARG1):c.804G>C (p.Gly268=) single nucleotide variant Arginase deficiency [RCV001151466] Chr6:131583743 [GRCh38]
Chr6:131904883 [GRCh37]
Chr6:6q23.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000045.4(ARG1):c.336dup (p.Arg113fs) duplication Arginase deficiency [RCV001041742] Chr6:131581247..131581248 [GRCh38]
Chr6:131902387..131902388 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.464dup (p.Ile156fs) duplication Arginase deficiency [RCV001057261] Chr6:131581374..131581375 [GRCh38]
Chr6:131902514..131902515 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.482G>C (p.Gly161Ala) single nucleotide variant Arginase deficiency [RCV001151465] Chr6:131582637 [GRCh38]
Chr6:131903777 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.936C>T (p.His312=) single nucleotide variant Arginase deficiency [RCV001151468] Chr6:131583875 [GRCh38]
Chr6:131905015 [GRCh37]
Chr6:6q23.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000045.4(ARG1):c.271G>A (p.Gly91Arg) single nucleotide variant Arginase deficiency [RCV001156892] Chr6:131579251 [GRCh38]
Chr6:131900391 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.746T>C (p.Val249Ala) single nucleotide variant Arginase deficiency [RCV001232250] Chr6:131583435 [GRCh38]
Chr6:131904575 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.798A>C (p.Lys266Asn) single nucleotide variant Arginase deficiency [RCV001241080]|not provided [RCV001560491]|not specified [RCV003987808] Chr6:131583487 [GRCh38]
Chr6:131904627 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.131-1G>C single nucleotide variant Arginase deficiency [RCV001039338] Chr6:131579110 [GRCh38]
Chr6:131900250 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.40-7_40-5del deletion Intellectual disability [RCV001252070] Chr6:131627677..131627679 [GRCh38]
Chr6:131948817..131948819 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.3545A>C (p.Glu1182Ala) single nucleotide variant Fraser syndrome 3 [RCV001251004] Chr6:131591454 [GRCh38]
Chr6:131912594 [GRCh37]
Chr6:6q23.2		 uncertain significance
Single allele deletion Interstitial 6q microdeletion syndrome [RCV002280353] Chr6:115941808..133892653 [GRCh38]
Chr6:6q22.1-23.2		 pathogenic
NM_004830.4(MED23):c.2832dup (p.Val945fs) duplication Intellectual disability, autosomal recessive 18 [RCV001334892] Chr6:131596109..131596110 [GRCh38]
Chr6:131917249..131917250 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_004830.4(MED23):c.953del (p.Glu318fs) deletion Intellectual disability [RCV001257654] Chr6:131610170 [GRCh38]
Chr6:131931310 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.1708T>G (p.Leu570Val) single nucleotide variant Inborn genetic diseases [RCV002546573]|Intellectual disability, autosomal recessive 18 [RCV001332522] Chr6:131604226 [GRCh38]
Chr6:131925366 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.802+76dup duplication Arginase deficiency [RCV001554020]|not provided [RCV001673199] Chr6:131583564..131583565 [GRCh38]
Chr6:131904704..131904705 [GRCh37]
Chr6:6q23.2		 benign
NM_000045.4(ARG1):c.939G>C (p.Lys313Asn) single nucleotide variant Arginase deficiency [RCV001317715] Chr6:131583878 [GRCh38]
Chr6:131905018 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.3566G>T (p.Arg1189Leu) single nucleotide variant Intellectual disability, autosomal recessive 18 [RCV001335780] Chr6:131591433 [GRCh38]
Chr6:131912573 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.541G>T (p.Asp181Tyr) single nucleotide variant Arginase deficiency [RCV001301745] Chr6:131582696 [GRCh38]
Chr6:131903836 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.956A>G (p.Asn319Ser) single nucleotide variant Arginase deficiency [RCV001342583] Chr6:131583895 [GRCh38]
Chr6:131905035 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.695A>G (p.Asn232Ser) single nucleotide variant Intellectual disability [RCV001281532] Chr6:131618492 [GRCh38]
Chr6:131939632 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.3142T>A (p.Tyr1048Asn) single nucleotide variant not provided [RCV001281629] Chr6:131594189 [GRCh38]
Chr6:131915329 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.1387A>T (p.Arg463Ter) single nucleotide variant not provided [RCV001310936] Chr6:131605466 [GRCh38]
Chr6:131926606 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.1181C>T (p.Pro394Leu) single nucleotide variant Intellectual disability, autosomal recessive 18 [RCV001330696] Chr6:131607968 [GRCh38]
Chr6:131929108 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.349G>A (p.Asp117Asn) single nucleotide variant Arginase deficiency [RCV001349369] Chr6:131581262 [GRCh38]
Chr6:131902402 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.926A>G (p.Glu309Gly) single nucleotide variant Arginase deficiency [RCV001351737]|Inborn genetic diseases [RCV002547536]|not provided [RCV001776217] Chr6:131583865 [GRCh38]
Chr6:131905005 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.3980T>G (p.Leu1327Arg) single nucleotide variant Intellectual disability, autosomal recessive 18 [RCV001335781] Chr6:131587806 [GRCh38]
Chr6:131908946 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.2807del (p.Gly936fs) deletion Mental retardation, autosomal recessive 18 [RCV001334891] Chr6:131596135 [GRCh38]
Chr6:131917275 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.306-177A>C single nucleotide variant not provided [RCV001537193] Chr6:131581042 [GRCh38]
Chr6:131902182 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.630G>A (p.Lys210=) single nucleotide variant Arginase deficiency [RCV001414524] Chr6:131583129 [GRCh38]
Chr6:131904269 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.685C>T (p.Leu229=) single nucleotide variant Arginase deficiency [RCV001392146] Chr6:131583374 [GRCh38]
Chr6:131904514 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.839del (p.Pro280fs) deletion Arginase deficiency [RCV001375048] Chr6:131583776 [GRCh38]
Chr6:131904916 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.210A>G (p.Pro70=) single nucleotide variant Arginase deficiency [RCV001392398] Chr6:131579190 [GRCh38]
Chr6:131900330 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.289C>G (p.Leu97Val) single nucleotide variant Arginase deficiency [RCV001337295] Chr6:131579269 [GRCh38]
Chr6:131900409 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.402A>C (p.Thr134=) single nucleotide variant Arginase deficiency [RCV001433515] Chr6:131581315 [GRCh38]
Chr6:131902455 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.135T>C (p.Cys45=) single nucleotide variant Arginase deficiency [RCV001392758] Chr6:131579115 [GRCh38]
Chr6:131900255 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.2176A>G (p.Asn726Asp) single nucleotide variant Intellectual disability, autosomal recessive 18 [RCV001334889] Chr6:131600082 [GRCh38]
Chr6:131921222 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.1528C>T (p.Pro510Ser) single nucleotide variant not provided [RCV001310935] Chr6:131605325 [GRCh38]
Chr6:131926465 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.475G>C (p.Val159Leu) single nucleotide variant Arginase deficiency [RCV001346646] Chr6:131582630 [GRCh38]
Chr6:131903770 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.59C>T (p.Pro20Leu) single nucleotide variant Arginase deficiency [RCV001316537] Chr6:131576664 [GRCh38]
Chr6:131897804 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.892G>A (p.Ala298Thr) single nucleotide variant Arginase deficiency [RCV001320730] Chr6:131583831 [GRCh38]
Chr6:131904971 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.709G>C (p.Asp237His) single nucleotide variant Arginase deficiency [RCV001320918] Chr6:131583398 [GRCh38]
Chr6:131904538 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.700G>A (p.Asp234Asn) single nucleotide variant Arginase deficiency [RCV001342958] Chr6:131583389 [GRCh38]
Chr6:131904529 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.862G>A (p.Glu288Lys) single nucleotide variant Arginase deficiency [RCV001323461] Chr6:131583801 [GRCh38]
Chr6:131904941 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.852G>C (p.Lys284Asn) single nucleotide variant Arginase deficiency [RCV001306286] Chr6:131583791 [GRCh38]
Chr6:131904931 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.61C>G (p.Arg21Gly) single nucleotide variant Arginase deficiency [RCV001325256] Chr6:131576666 [GRCh38]
Chr6:131897806 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.885A>G (p.Thr295=) single nucleotide variant Arginase deficiency [RCV001421475] Chr6:131583824 [GRCh38]
Chr6:131904964 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.291G>A (p.Leu97=) single nucleotide variant Arginase deficiency [RCV001394566] Chr6:131579271 [GRCh38]
Chr6:131900411 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.922C>T (p.Arg308Trp) single nucleotide variant Arginase deficiency [RCV001310012] Chr6:131583861 [GRCh38]
Chr6:131905001 [GRCh37]
Chr6:6q23.2		 likely pathogenic|uncertain significance
NM_000045.4(ARG1):c.561-7T>A single nucleotide variant Arginase deficiency [RCV001421855] Chr6:131583053 [GRCh38]
Chr6:131904193 [GRCh37]
Chr6:6q23.2		 likely benign
NC_000006.11:g.(?_131894423)_(132211651_?)dup duplication Arginase deficiency [RCV001294718] Chr6:131894423..132211651 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.230G>A (p.Ser77Asn) single nucleotide variant Arginase deficiency [RCV001365632] Chr6:131579210 [GRCh38]
Chr6:131900350 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.266A>C (p.Lys89Thr) single nucleotide variant Arginase deficiency [RCV001337982]|Inborn genetic diseases [RCV002546831] Chr6:131579246 [GRCh38]
Chr6:131900386 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.183C>T (p.Asp61=) single nucleotide variant Arginase deficiency [RCV001473120] Chr6:131579163 [GRCh38]
Chr6:131900303 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.522T>C (p.Ile174=) single nucleotide variant Arginase deficiency [RCV001479183] Chr6:131582677 [GRCh38]
Chr6:131903817 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.564C>T (p.Tyr188=) single nucleotide variant Arginase deficiency [RCV001430223] Chr6:131583063 [GRCh38]
Chr6:131904203 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.471C>T (p.Pro157=) single nucleotide variant Arginase deficiency [RCV001460985] Chr6:131582626 [GRCh38]
Chr6:131903766 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.665+9C>A single nucleotide variant Arginase deficiency [RCV001473971] Chr6:131583173 [GRCh38]
Chr6:131904313 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.63A>G (p.Arg21=) single nucleotide variant Arginase deficiency [RCV001482601] Chr6:131576668 [GRCh38]
Chr6:131897808 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.603T>G (p.Thr201=) single nucleotide variant Arginase deficiency [RCV001426219] Chr6:131583102 [GRCh38]
Chr6:131904242 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.606A>G (p.Glu202=) single nucleotide variant Arginase deficiency [RCV001472073] Chr6:131583105 [GRCh38]
Chr6:131904245 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.831A>G (p.Glu277=) single nucleotide variant Arginase deficiency [RCV001398540] Chr6:131583770 [GRCh38]
Chr6:131904910 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.384T>C (p.Asp128=) single nucleotide variant Arginase deficiency [RCV001432442] Chr6:131581297 [GRCh38]
Chr6:131902437 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.819del (p.Asp274fs) deletion Arginase deficiency [RCV001389574] Chr6:131583758 [GRCh38]
Chr6:131904898 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.81C>T (p.Gly27=) single nucleotide variant Arginase deficiency [RCV001397803] Chr6:131576686 [GRCh38]
Chr6:131897826 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.684del (p.His228_Leu229insTer) deletion Arginase deficiency [RCV001389541] Chr6:131583373 [GRCh38]
Chr6:131904513 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.283C>T (p.Leu95=) single nucleotide variant Arginase deficiency [RCV001410040] Chr6:131579263 [GRCh38]
Chr6:131900403 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.366G>A (p.Trp122Ter) single nucleotide variant Arginase deficiency [RCV001380853] Chr6:131581279 [GRCh38]
Chr6:131902419 [GRCh37]
Chr6:6q23.2		 pathogenic|likely pathogenic
NM_000045.4(ARG1):c.255A>G (p.Ala85=) single nucleotide variant Arginase deficiency [RCV001437792] Chr6:131579235 [GRCh38]
Chr6:131900375 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.492G>A (p.Trp164Ter) single nucleotide variant Arginase deficiency [RCV001388640] Chr6:131582647 [GRCh38]
Chr6:131903787 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.822T>C (p.Asp274=) single nucleotide variant Arginase deficiency [RCV001410628] Chr6:131583761 [GRCh38]
Chr6:131904901 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.774C>T (p.Leu258=) single nucleotide variant Arginase deficiency [RCV001408313] Chr6:131583463 [GRCh38]
Chr6:131904603 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.312A>T (p.Ala104=) single nucleotide variant Arginase deficiency [RCV001445128] Chr6:131581225 [GRCh38]
Chr6:131902365 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.744C>T (p.Val248=) single nucleotide variant Arginase deficiency [RCV001447919] Chr6:131583433 [GRCh38]
Chr6:131904573 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.411T>C (p.Ser137=) single nucleotide variant Arginase deficiency [RCV001428381] Chr6:131581324 [GRCh38]
Chr6:131902464 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.803-10G>A single nucleotide variant Arginase deficiency [RCV001394136] Chr6:131583732 [GRCh38]
Chr6:131904872 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.306-5A>G single nucleotide variant Arginase deficiency [RCV001409222] Chr6:131581214 [GRCh38]
Chr6:131902354 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.272del (p.Gly91fs) deletion Arginase deficiency [RCV001384623] Chr6:131579251 [GRCh38]
Chr6:131900391 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.477G>A (p.Val159=) single nucleotide variant Arginase deficiency [RCV001454350] Chr6:131582632 [GRCh38]
Chr6:131903772 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.762C>T (p.Tyr254=) single nucleotide variant Arginase deficiency [RCV001495428] Chr6:131583451 [GRCh38]
Chr6:131904591 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.198T>C (p.Ile66=) single nucleotide variant Arginase deficiency [RCV001482642] Chr6:131579178 [GRCh38]
Chr6:131900318 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.501C>A (p.Pro167=) single nucleotide variant Arginase deficiency [RCV001496392] Chr6:131582656 [GRCh38]
Chr6:131903796 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.560+10T>C single nucleotide variant Arginase deficiency [RCV001480226] Chr6:131582725 [GRCh38]
Chr6:131903865 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.486C>T (p.Phe162=) single nucleotide variant Arginase deficiency [RCV001496924] Chr6:131582641 [GRCh38]
Chr6:131903781 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.243T>C (p.Ala81=) single nucleotide variant Arginase deficiency [RCV001497815] Chr6:131579223 [GRCh38]
Chr6:131900363 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.466-10G>A single nucleotide variant Arginase deficiency [RCV001497436] Chr6:131582611 [GRCh38]
Chr6:131903751 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.802+88C>T single nucleotide variant not provided [RCV001714296] Chr6:131583579 [GRCh38]
Chr6:131904719 [GRCh37]
Chr6:6q23.2		 benign
NM_000045.4(ARG1):c.378C>T (p.His126=) single nucleotide variant Arginase deficiency [RCV001461040] Chr6:131581291 [GRCh38]
Chr6:131902431 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.534C>T (p.Gly178=) single nucleotide variant Arginase deficiency [RCV001484995] Chr6:131582689 [GRCh38]
Chr6:131903829 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.93del (p.Arg32fs) deletion Arginase deficiency [RCV001390418] Chr6:131576698 [GRCh38]
Chr6:131897838 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.297A>C (p.Gly99=) single nucleotide variant Arginase deficiency [RCV001495991] Chr6:131579277 [GRCh38]
Chr6:131900417 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.294C>T (p.Gly98=) single nucleotide variant Arginase deficiency [RCV001486432] Chr6:131579274 [GRCh38]
Chr6:131900414 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.802+9C>G single nucleotide variant Arginase deficiency [RCV001458649] Chr6:131583500 [GRCh38]
Chr6:131904640 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.726A>T (p.Pro242=) single nucleotide variant Arginase deficiency [RCV001477496] Chr6:131583415 [GRCh38]
Chr6:131904555 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.397C>T (p.Leu133=) single nucleotide variant Arginase deficiency [RCV001404010] Chr6:131581310 [GRCh38]
Chr6:131902450 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.549C>T (p.Asp183=) single nucleotide variant Arginase deficiency [RCV001438350] Chr6:131582704 [GRCh38]
Chr6:131903844 [GRCh37]
Chr6:6q23.2		 likely benign
NC_000006.11:g.(?_131894413)_(131905058_?)del deletion Arginase deficiency [RCV001386241] Chr6:131894413..131905058 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.87A>G (p.Thr29=) single nucleotide variant Arginase deficiency [RCV001466557] Chr6:131576692 [GRCh38]
Chr6:131897832 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.804G>A (p.Gly268=) single nucleotide variant Arginase deficiency [RCV001477063] Chr6:131583743 [GRCh38]
Chr6:131904883 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.777C>T (p.Tyr259=) single nucleotide variant Arginase deficiency [RCV001483987] Chr6:131583466 [GRCh38]
Chr6:131904606 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.561-5T>C single nucleotide variant Arginase deficiency [RCV001399020] Chr6:131583055 [GRCh38]
Chr6:131904195 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.561-8T>C single nucleotide variant Arginase deficiency [RCV001426691] Chr6:131583052 [GRCh38]
Chr6:131904192 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.558A>G (p.Glu186=) single nucleotide variant Arginase deficiency [RCV001441768] Chr6:131582713 [GRCh38]
Chr6:131903853 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.2642_2645delinsAAATGAA (p.Val881_Cys882delinsGluMetAsn) indel not provided [RCV001763369] Chr6:131596651..131596654 [GRCh38]
Chr6:131917791..131917794 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.58-293G>A single nucleotide variant not provided [RCV001733077] Chr6:131576370 [GRCh38]
Chr6:131897510 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.403C>T (p.Arg135Ter) single nucleotide variant not provided [RCV001769282] Chr6:131621973 [GRCh38]
Chr6:131943113 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.561-31A>C single nucleotide variant not provided [RCV001733282] Chr6:131583029 [GRCh38]
Chr6:131904169 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.224del (p.Arg75fs) deletion Intellectual disability, autosomal recessive 18 [RCV001787694] Chr6:131624925 [GRCh38]
Chr6:131946065 [GRCh37]
Chr6:6q23.2		 not provided
NM_000045.4(ARG1):c.306-240A>G single nucleotide variant not provided [RCV001733131] Chr6:131580979 [GRCh38]
Chr6:131902119 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.2663T>C (p.Leu888Ser) single nucleotide variant not provided [RCV001768813] Chr6:131596633 [GRCh38]
Chr6:131917773 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.3508_3511del (p.Val1171fs) deletion not provided [RCV001794616] Chr6:131591488..131591491 [GRCh38]
Chr6:131912628..131912631 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.3490C>T (p.Leu1164Phe) single nucleotide variant not provided [RCV001774377] Chr6:131591509 [GRCh38]
Chr6:131912649 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.614T>C (p.Val205Ala) single nucleotide variant not provided [RCV001770931] Chr6:131619880 [GRCh38]
Chr6:131941020 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.547_549del (p.Asp183del) deletion Arginase deficiency [RCV001806384] Chr6:131582702..131582704 [GRCh38]
Chr6:131903842..131903844 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_004830.4(MED23):c.539C>A (p.Ala180Asp) single nucleotide variant Inborn genetic diseases [RCV002544316]|Intellectual disability, autosomal recessive 18 [RCV001789719] Chr6:131620686 [GRCh38]
Chr6:131941826 [GRCh37]
Chr6:6q23.2		 pathogenic|uncertain significance
NM_004830.4(MED23):c.506A>G (p.Tyr169Cys) single nucleotide variant Intellectual disability, autosomal recessive 18 [RCV001789717] Chr6:131620719 [GRCh38]
Chr6:131941859 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_004830.4(MED23):c.382G>A (p.Gly128Arg) single nucleotide variant Intellectual disability, autosomal recessive 18 [RCV001789718] Chr6:131623365 [GRCh38]
Chr6:131944505 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_004830.4(MED23):c.1919A>G (p.Gln640Arg) single nucleotide variant Intellectual disability, autosomal recessive 18 [RCV001789720] Chr6:131603042 [GRCh38]
Chr6:131924182 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.665+26_665+27del deletion not provided [RCV001776654] Chr6:131583190..131583191 [GRCh38]
Chr6:131904330..131904331 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.263_266del (p.Lys88fs) deletion Arginase deficiency [RCV000002487] Chr6:131579242..131579245 [GRCh38]
Chr6:131900382..131900385 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_004830.4(MED23):c.1697C>T (p.Thr566Ile) single nucleotide variant not provided [RCV001757953] Chr6:131604237 [GRCh38]
Chr6:131925377 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.78del (p.Gly27fs) deletion Arginase deficiency [RCV000002488] Chr6:131576682 [GRCh38]
Chr6:131897822 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_004830.4(MED23):c.4013T>C (p.Met1338Thr) single nucleotide variant not specified [RCV001817256] Chr6:131587773 [GRCh38]
Chr6:131908913 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.13C>T (p.Leu5=) single nucleotide variant not specified [RCV001817513] Chr6:131628037 [GRCh38]
Chr6:131949177 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.368G>A (p.Arg123Gln) single nucleotide variant Inborn genetic diseases [RCV002343873]|not specified [RCV001820242] Chr6:131623379 [GRCh38]
Chr6:131944519 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.886C>T (p.Arg296Cys) single nucleotide variant not specified [RCV001820668] Chr6:131610237 [GRCh38]
Chr6:131931377 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.766G>T (p.Glu256Ter) single nucleotide variant Arginase deficiency [RCV001994776] Chr6:131583455 [GRCh38]
Chr6:131904595 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.314_317delinsATGC (p.Ile105_Gly106delinsAsnAla) indel Arginase deficiency [RCV001809039] Chr6:131581227..131581230 [GRCh38]
Chr6:131902367..131902370 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.875C>G (p.Thr292Arg) single nucleotide variant Arginase deficiency [RCV001823453] Chr6:131583814 [GRCh38]
Chr6:131904954 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.124G>T (p.Glu42Ter) single nucleotide variant Arginase deficiency [RCV001871492] Chr6:131576729 [GRCh38]
Chr6:131897869 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.936C>A (p.His312Gln) single nucleotide variant Arginase deficiency [RCV002011078] Chr6:131583875 [GRCh38]
Chr6:131905015 [GRCh37]
Chr6:6q23.2		 uncertain significance
GRCh37/hg19 6q23.1-23.3(chr6:130769034-136009217)x1 copy number loss not provided [RCV001829086] Chr6:130769034..136009217 [GRCh37]
Chr6:6q23.1-23.3		 pathogenic
NM_000045.4(ARG1):c.466-179_524del deletion Arginase deficiency [RCV002021570] Chr6:131582440..131582677 [GRCh38]
Chr6:131903580..131903817 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.551C>A (p.Pro184His) single nucleotide variant Arginase deficiency [RCV001872632] Chr6:131582706 [GRCh38]
Chr6:131903846 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.739C>T (p.Pro247Ser) single nucleotide variant Arginase deficiency [RCV002041316] Chr6:131583428 [GRCh38]
Chr6:131904568 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.665+6A>G single nucleotide variant Arginase deficiency [RCV002017936] Chr6:131583170 [GRCh38]
Chr6:131904310 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.473A>G (p.Asp158Gly) single nucleotide variant Arginase deficiency [RCV002043610] Chr6:131582628 [GRCh38]
Chr6:131903768 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.665+2T>C single nucleotide variant Arginase deficiency [RCV002048951] Chr6:131583166 [GRCh38]
Chr6:131904306 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.769G>A (p.Gly257Ser) single nucleotide variant Arginase deficiency [RCV002047203] Chr6:131583458 [GRCh38]
Chr6:131904598 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.577_578del (p.Leu193fs) microsatellite Arginase deficiency [RCV002007359] Chr6:131583074..131583075 [GRCh38]
Chr6:131904214..131904215 [GRCh37]
Chr6:6q23.2		 pathogenic
GRCh37/hg19 6q23.1-23.2(chr6:130949600-131924268) copy number gain not specified [RCV002053622] Chr6:130949600..131924268 [GRCh37]
Chr6:6q23.1-23.2		 uncertain significance
GRCh37/hg19 6q23.2(chr6:131624204-132219490) copy number gain not specified [RCV002053623] Chr6:131624204..132219490 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.251T>C (p.Val84Ala) single nucleotide variant Arginase deficiency [RCV002048877] Chr6:131579231 [GRCh38]
Chr6:131900371 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.386T>C (p.Ile129Thr) single nucleotide variant Arginase deficiency [RCV002013700] Chr6:131581299 [GRCh38]
Chr6:131902439 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.305+1G>A single nucleotide variant Arginase deficiency [RCV001844000] Chr6:131579286 [GRCh38]
Chr6:131900426 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.751G>A (p.Gly251Ser) single nucleotide variant Arginase deficiency [RCV001844001] Chr6:131583440 [GRCh38]
Chr6:131904580 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.131-10_131-9del deletion Arginase deficiency [RCV002029053] Chr6:131579098..131579099 [GRCh38]
Chr6:131900238..131900239 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.668A>C (p.Lys223Thr) single nucleotide variant Arginase deficiency [RCV002025914] Chr6:131583357 [GRCh38]
Chr6:131904497 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.807_811del (p.Leu270fs) deletion Arginase deficiency [RCV002037913] Chr6:131583744..131583748 [GRCh38]
Chr6:131904884..131904888 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.640G>A (p.Glu214Lys) single nucleotide variant Arginase deficiency [RCV002011881] Chr6:131583139 [GRCh38]
Chr6:131904279 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.560+2T>C single nucleotide variant Arginase deficiency [RCV002019961] Chr6:131582717 [GRCh38]
Chr6:131903857 [GRCh37]
Chr6:6q23.2		 pathogenic|likely pathogenic
NC_000006.11:g.(?_131894423)_(131903875_?)dup duplication Arginase deficiency [RCV001991048] Chr6:131894423..131903875 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.623T>C (p.Ile208Thr) single nucleotide variant Arginase deficiency [RCV001898569] Chr6:131583122 [GRCh38]
Chr6:131904262 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.745G>A (p.Val249Met) single nucleotide variant Arginase deficiency [RCV001903271] Chr6:131583434 [GRCh38]
Chr6:131904574 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.603_604del (p.Glu202fs) deletion Arginase deficiency [RCV001889119] Chr6:131583102..131583103 [GRCh38]
Chr6:131904242..131904243 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.820_823dup (p.Ile275fs) duplication Arginase deficiency [RCV001949446] Chr6:131583756..131583757 [GRCh38]
Chr6:131904896..131904897 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.218T>G (p.Val73Gly) single nucleotide variant Arginase deficiency [RCV001950004] Chr6:131579198 [GRCh38]
Chr6:131900338 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.76G>A (p.Glu26Lys) single nucleotide variant Arginase deficiency [RCV001897112] Chr6:131576681 [GRCh38]
Chr6:131897821 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.136G>A (p.Asp46Asn) single nucleotide variant Arginase deficiency [RCV001985436] Chr6:131579116 [GRCh38]
Chr6:131900256 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.292G>A (p.Gly98Ser) single nucleotide variant Arginase deficiency [RCV001900881] Chr6:131579272 [GRCh38]
Chr6:131900412 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.943A>G (p.Ile315Val) single nucleotide variant Arginase deficiency [RCV001957796]|Inborn genetic diseases [RCV003289272] Chr6:131583882 [GRCh38]
Chr6:131905022 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.758C>T (p.Thr253Ile) single nucleotide variant Arginase deficiency [RCV001933257] Chr6:131583447 [GRCh38]
Chr6:131904587 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.561-9C>A single nucleotide variant Arginase deficiency [RCV001909603] Chr6:131583051 [GRCh38]
Chr6:131904191 [GRCh37]
Chr6:6q23.2		 likely benign|uncertain significance
NM_000045.4(ARG1):c.100G>T (p.Ala34Ser) single nucleotide variant Arginase deficiency [RCV001973693] Chr6:131576705 [GRCh38]
Chr6:131897845 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.187C>G (p.Pro63Ala) single nucleotide variant Arginase deficiency [RCV001945949] Chr6:131579167 [GRCh38]
Chr6:131900307 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.896T>A (p.Ile299Lys) single nucleotide variant Arginase deficiency [RCV001890666] Chr6:131583835 [GRCh38]
Chr6:131904975 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.882C>A (p.Asn294Lys) single nucleotide variant Arginase deficiency [RCV001897284] Chr6:131583821 [GRCh38]
Chr6:131904961 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.325_336del (p.Ser109_Ala112del) deletion Arginase deficiency [RCV001928056] Chr6:131581237..131581248 [GRCh38]
Chr6:131902377..131902388 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.595T>G (p.Ser199Ala) single nucleotide variant Arginase deficiency [RCV001939800] Chr6:131583094 [GRCh38]
Chr6:131904234 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.70G>C (p.Val24Leu) single nucleotide variant Arginase deficiency [RCV001913667] Chr6:131576675 [GRCh38]
Chr6:131897815 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.153G>T (p.Gly51=) single nucleotide variant Arginase deficiency [RCV001916674] Chr6:131579133 [GRCh38]
Chr6:131900273 [GRCh37]
Chr6:6q23.2		 likely benign|uncertain significance
NM_000045.4(ARG1):c.245G>A (p.Gly82Asp) single nucleotide variant Arginase deficiency [RCV001892261] Chr6:131579225 [GRCh38]
Chr6:131900365 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.907T>G (p.Cys303Gly) single nucleotide variant Arginase deficiency [RCV001925675] Chr6:131583846 [GRCh38]
Chr6:131904986 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.562T>G (p.Tyr188Asp) single nucleotide variant Arginase deficiency [RCV001984974] Chr6:131583061 [GRCh38]
Chr6:131904201 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.309G>A (p.Leu103=) single nucleotide variant Arginase deficiency [RCV001987189] Chr6:131581222 [GRCh38]
Chr6:131902362 [GRCh37]
Chr6:6q23.2		 likely benign|uncertain significance
NM_000045.4(ARG1):c.665+4G>A single nucleotide variant Arginase deficiency [RCV001888010]|not specified [RCV003987916] Chr6:131583168 [GRCh38]
Chr6:131904308 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.560A>G (p.His187Arg) single nucleotide variant Arginase deficiency [RCV001891002] Chr6:131582715 [GRCh38]
Chr6:131903855 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.959C>T (p.Pro320Leu) single nucleotide variant Arginase deficiency [RCV001913136] Chr6:131583898 [GRCh38]
Chr6:131905038 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.803-14A>G single nucleotide variant Arginase deficiency [RCV001891504] Chr6:131583728 [GRCh38]
Chr6:131904868 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.825A>G (p.Ile275Met) single nucleotide variant Arginase deficiency [RCV001914057] Chr6:131583764 [GRCh38]
Chr6:131904904 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.130+1G>A single nucleotide variant Arginase deficiency [RCV001933794]|not provided [RCV003327541] Chr6:131576736 [GRCh38]
Chr6:131897876 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.322A>G (p.Ile108Val) single nucleotide variant Arginase deficiency [RCV001955596]|Inborn genetic diseases [RCV002562862] Chr6:131581235 [GRCh38]
Chr6:131902375 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.381T>C (p.Thr127=) single nucleotide variant Arginase deficiency [RCV002191060] Chr6:131581294 [GRCh38]
Chr6:131902434 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.363C>T (p.Ile121=) single nucleotide variant Arginase deficiency [RCV002184542] Chr6:131581276 [GRCh38]
Chr6:131902416 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.666-19C>T single nucleotide variant Arginase deficiency [RCV002095964] Chr6:131583336 [GRCh38]
Chr6:131904476 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.306-10_306-9delinsCT indel Arginase deficiency [RCV002093749] Chr6:131581209..131581210 [GRCh38]
Chr6:131902349..131902350 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.130+11A>G single nucleotide variant Arginase deficiency [RCV002216950] Chr6:131576746 [GRCh38]
Chr6:131897886 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.560+18T>A single nucleotide variant Arginase deficiency [RCV002099268] Chr6:131582733 [GRCh38]
Chr6:131903873 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.645A>T (p.Thr215=) single nucleotide variant Arginase deficiency [RCV002100628] Chr6:131583144 [GRCh38]
Chr6:131904284 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.306-16A>T single nucleotide variant Arginase deficiency [RCV002138553] Chr6:131581203 [GRCh38]
Chr6:131902343 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.591C>T (p.Tyr197=) single nucleotide variant Arginase deficiency [RCV002134039] Chr6:131583090 [GRCh38]
Chr6:131904230 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.963T>C (p.Pro321=) single nucleotide variant Arginase deficiency [RCV002150619] Chr6:131583902 [GRCh38]
Chr6:131905042 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.58-17A>G single nucleotide variant Arginase deficiency [RCV002081808] Chr6:131576646 [GRCh38]
Chr6:131897786 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.561-9C>G single nucleotide variant Arginase deficiency [RCV002205024] Chr6:131583051 [GRCh38]
Chr6:131904191 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.663A>G (p.Gly221=) single nucleotide variant Arginase deficiency [RCV002211837] Chr6:131583162 [GRCh38]
Chr6:131904302 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.780C>T (p.Ile260=) single nucleotide variant Arginase deficiency [RCV002216772] Chr6:131583469 [GRCh38]
Chr6:131904609 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.849G>A (p.Gly283=) single nucleotide variant Arginase deficiency [RCV002114276] Chr6:131583788 [GRCh38]
Chr6:131904928 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.561-19C>A single nucleotide variant Arginase deficiency [RCV002106108] Chr6:131583041 [GRCh38]
Chr6:131904181 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.466-13A>G single nucleotide variant Arginase deficiency [RCV002128922] Chr6:131582608 [GRCh38]
Chr6:131903748 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.147T>C (p.Asp49=) single nucleotide variant Arginase deficiency [RCV002130887] Chr6:131579127 [GRCh38]
Chr6:131900267 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.666-6T>C single nucleotide variant Arginase deficiency [RCV002137498] Chr6:131583349 [GRCh38]
Chr6:131904489 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.58-13_58-11del deletion Arginase deficiency [RCV002148899] Chr6:131576647..131576649 [GRCh38]
Chr6:131897787..131897789 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.901T>C (p.Leu301=) single nucleotide variant Arginase deficiency [RCV002158542] Chr6:131583840 [GRCh38]
Chr6:131904980 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.825A>C (p.Ile275=) single nucleotide variant Arginase deficiency [RCV002087144] Chr6:131583764 [GRCh38]
Chr6:131904904 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.792C>T (p.Ile264=) single nucleotide variant Arginase deficiency [RCV002164408] Chr6:131583481 [GRCh38]
Chr6:131904621 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.330C>T (p.Gly110=) single nucleotide variant Arginase deficiency [RCV002081063] Chr6:131581243 [GRCh38]
Chr6:131902383 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.903G>A (p.Leu301=) single nucleotide variant Arginase deficiency [RCV002193926] Chr6:131583842 [GRCh38]
Chr6:131904982 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.58-17A>T single nucleotide variant Arginase deficiency [RCV002200059] Chr6:131576646 [GRCh38]
Chr6:131897786 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.843C>T (p.Ser281=) single nucleotide variant Arginase deficiency [RCV002082137] Chr6:131583782 [GRCh38]
Chr6:131904922 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.531T>C (p.Ile177=) single nucleotide variant Arginase deficiency [RCV002102475] Chr6:131582686 [GRCh38]
Chr6:131903826 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.306-16del deletion Arginase deficiency [RCV002132440] Chr6:131581200 [GRCh38]
Chr6:131902340 [GRCh37]
Chr6:6q23.2		 benign
NM_000045.4(ARG1):c.189C>G (p.Pro63=) single nucleotide variant Arginase deficiency [RCV002155212] Chr6:131579169 [GRCh38]
Chr6:131900309 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.885A>T (p.Thr295=) single nucleotide variant Arginase deficiency [RCV002172698] Chr6:131583824 [GRCh38]
Chr6:131904964 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.17A>G (p.Gln6Arg) single nucleotide variant not provided [RCV002225997] Chr6:131628033 [GRCh38]
Chr6:131949173 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.423T>C (p.His141=) single nucleotide variant Arginase deficiency [RCV002183441] Chr6:131581336 [GRCh38]
Chr6:131902476 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.803-9T>A single nucleotide variant Arginase deficiency [RCV002081270] Chr6:131583733 [GRCh38]
Chr6:131904873 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.665+14G>C single nucleotide variant Arginase deficiency [RCV002091701] Chr6:131583178 [GRCh38]
Chr6:131904318 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.858A>G (p.Pro286=) single nucleotide variant Arginase deficiency [RCV002217426] Chr6:131583797 [GRCh38]
Chr6:131904937 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.466-12T>C single nucleotide variant Arginase deficiency [RCV002100173] Chr6:131582609 [GRCh38]
Chr6:131903749 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.177T>A (p.Pro59=) single nucleotide variant Arginase deficiency [RCV002152501] Chr6:131579157 [GRCh38]
Chr6:131900297 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.627C>A (p.Gly209=) single nucleotide variant Arginase deficiency [RCV002159015] Chr6:131583126 [GRCh38]
Chr6:131904266 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.720C>T (p.Phe240=) single nucleotide variant Arginase deficiency [RCV002167846] Chr6:131583409 [GRCh38]
Chr6:131904549 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.803-9T>C single nucleotide variant Arginase deficiency [RCV002175233] Chr6:131583733 [GRCh38]
Chr6:131904873 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.93G>A (p.Leu31=) single nucleotide variant Arginase deficiency [RCV002185939] Chr6:131576698 [GRCh38]
Chr6:131897838 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.130+10_130+13dup duplication Arginase deficiency [RCV002073731] Chr6:131576743..131576744 [GRCh38]
Chr6:131897883..131897884 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.561-14T>C single nucleotide variant Arginase deficiency [RCV002198772] Chr6:131583046 [GRCh38]
Chr6:131904186 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.454C>T (p.Leu152=) single nucleotide variant Arginase deficiency [RCV002198946] Chr6:131581367 [GRCh38]
Chr6:131902507 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.466-14C>T single nucleotide variant Arginase deficiency [RCV002202385] Chr6:131582607 [GRCh38]
Chr6:131903747 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.390C>T (p.Asn130=) single nucleotide variant Arginase deficiency [RCV002080387] Chr6:131581303 [GRCh38]
Chr6:131902443 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.3055C>T (p.Arg1019Cys) single nucleotide variant not provided [RCV003109913] Chr6:131594276 [GRCh38]
Chr6:131915416 [GRCh37]
Chr6:6q23.2		 uncertain significance
NC_000006.11:g.(?_131900217)_(131902528_?)del deletion Arginase deficiency [RCV003119135] Chr6:131900217..131902528 [GRCh37]
Chr6:6q23.2		 pathogenic
NC_000006.11:g.(?_131902339)_(131905048_?)dup duplication Arginase deficiency [RCV003119136] Chr6:131902339..131905048 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.2998C>A (p.Arg1000Ser) single nucleotide variant Intellectual disability, autosomal recessive 18 [RCV002272897] Chr6:131594333 [GRCh38]
Chr6:131915473 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.3724G>A (p.Glu1242Lys) single nucleotide variant not provided [RCV003131579] Chr6:131590405 [GRCh38]
Chr6:131911545 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.446del (p.Pro149fs) deletion not provided [RCV002265229] Chr6:131621930 [GRCh38]
Chr6:131943070 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.3695C>G (p.Thr1232Ser) single nucleotide variant Inborn genetic diseases [RCV002349021] Chr6:131590434 [GRCh38]
Chr6:131911574 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.2779-1G>C single nucleotide variant not provided [RCV002291068] Chr6:131596164 [GRCh38]
Chr6:131917304 [GRCh37]
Chr6:6q23.2		 not provided
NM_004830.4(MED23):c.3704TTC[1] (p.Leu1236del) microsatellite Inborn genetic diseases [RCV002349126] Chr6:131590420..131590422 [GRCh38]
Chr6:131911560..131911562 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.2427-1G>A single nucleotide variant not provided [RCV002281640] Chr6:131598468 [GRCh38]
Chr6:131919608 [GRCh37]
Chr6:6q23.2		 not provided
NM_004830.4(MED23):c.3472-1G>T single nucleotide variant not provided [RCV002279894] Chr6:131591528 [GRCh38]
Chr6:131912668 [GRCh37]
Chr6:6q23.2		 not provided
NM_004830.4(MED23):c.3015G>A (p.Leu1005=) single nucleotide variant Inborn genetic diseases [RCV002438130]|not provided [RCV003312057] Chr6:131594316 [GRCh38]
Chr6:131915456 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.3512T>C (p.Val1171Ala) single nucleotide variant not provided [RCV002265192] Chr6:131591487 [GRCh38]
Chr6:131912627 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.667G>A (p.Gly223Ser) single nucleotide variant Inborn genetic diseases [RCV002367010] Chr6:131619827 [GRCh38]
Chr6:131940967 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.3554G>A (p.Gly1185Asp) single nucleotide variant Inborn genetic diseases [RCV002455021] Chr6:131591445 [GRCh38]
Chr6:131912585 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.709G>T (p.Asp237Tyr) single nucleotide variant Arginase deficiency [RCV002298042] Chr6:131583398 [GRCh38]
Chr6:131904538 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.966C>T (p.Asp322=) single nucleotide variant Inborn genetic diseases [RCV002387289] Chr6:131610157 [GRCh38]
Chr6:131931297 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.967G>A (p.Asp323Asn) single nucleotide variant Inborn genetic diseases [RCV002387332] Chr6:131610156 [GRCh38]
Chr6:131931296 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.75A>C (p.Glu25Asp) single nucleotide variant Arginase deficiency [RCV002571503]|not provided [RCV002474028] Chr6:131576680 [GRCh38]
Chr6:131897820 [GRCh37]
Chr6:6q23.2		 likely benign|uncertain significance
NM_004830.4(MED23):c.1827C>T (p.Ser609=) single nucleotide variant Inborn genetic diseases [RCV002412916] Chr6:131603134 [GRCh38]
Chr6:131924274 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.2577T>G (p.Ile859Met) single nucleotide variant Inborn genetic diseases [RCV002426174] Chr6:131598317 [GRCh38]
Chr6:131919457 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.721T>C (p.Trp241Arg) single nucleotide variant Inborn genetic diseases [RCV002370967] Chr6:131618466 [GRCh38]
Chr6:131939606 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.459del (p.Gly154fs) deletion Arginase deficiency [RCV002309530] Chr6:131581369 [GRCh38]
Chr6:131902509 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.2472G>A (p.Arg824=) single nucleotide variant Inborn genetic diseases [RCV002430935] Chr6:131598422 [GRCh38]
Chr6:131919562 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.1980G>A (p.Glu660=) single nucleotide variant Inborn genetic diseases [RCV002417035] Chr6:131602333 [GRCh38]
Chr6:131923473 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.3058G>A (p.Ala1020Thr) single nucleotide variant Inborn genetic diseases [RCV002319828] Chr6:131594273 [GRCh38]
Chr6:131915413 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.40-6_40-5dup duplication Inborn genetic diseases [RCV002321392] Chr6:131627676..131627677 [GRCh38]
Chr6:131948816..131948817 [GRCh37]
Chr6:6q23.2		 benign
NM_000045.4(ARG1):c.637G>T (p.Glu213Ter) single nucleotide variant Arginase deficiency [RCV002310217] Chr6:131583136 [GRCh38]
Chr6:131904276 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.2065T>C (p.Leu689=) single nucleotide variant Inborn genetic diseases [RCV002423915]|MED23-related condition [RCV003973402] Chr6:131602248 [GRCh38]
Chr6:131923388 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.3854G>C (p.Ser1285Thr) single nucleotide variant Inborn genetic diseases [RCV002355631] Chr6:131589550 [GRCh38]
Chr6:131910690 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.314_345delinsATGCAAGCATCAGGATGACT (p.Ile105_His115delinsAsnAlaSerIleArgMetThr) indel Arginase deficiency [RCV003147761]|not provided [RCV003317591]|not specified [RCV002308673] Chr6:131581227..131581258 [GRCh38]
Chr6:131902367..131902398 [GRCh37]
Chr6:6q23.2		 likely pathogenic|uncertain significance
NM_000045.4(ARG1):c.661G>T (p.Gly221Ter) single nucleotide variant Arginase deficiency [RCV002309544] Chr6:131583160 [GRCh38]
Chr6:131904300 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.182_184delinsG (p.Asp61fs) indel Arginase deficiency [RCV002310551] Chr6:131579162..131579164 [GRCh38]
Chr6:131900302..131900304 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.1367+4A>G single nucleotide variant Inborn genetic diseases [RCV002396500] Chr6:131606475 [GRCh38]
Chr6:131927615 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.4032T>C (p.Pro1344=) single nucleotide variant Inborn genetic diseases [RCV002321291] Chr6:131587754 [GRCh38]
Chr6:131908894 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.2322C>T (p.Asn774=) single nucleotide variant Inborn genetic diseases [RCV002457687] Chr6:131598660 [GRCh38]
Chr6:131919800 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.96T>C (p.Asp32=) single nucleotide variant Inborn genetic diseases [RCV002376668]|MED23-related condition [RCV003903688] Chr6:131627459 [GRCh38]
Chr6:131948599 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.143_146del (p.Lys48fs) deletion Arginase deficiency [RCV002306772] Chr6:131579121..131579124 [GRCh38]
Chr6:131900261..131900264 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.432_448del (p.Val145fs) deletion Arginase deficiency [RCV002310426] Chr6:131581345..131581361 [GRCh38]
Chr6:131902485..131902501 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.145_146insC (p.Asp49fs) insertion Arginase deficiency [RCV002310572] Chr6:131579125..131579126 [GRCh38]
Chr6:131900265..131900266 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.1675T>G (p.Leu559Val) single nucleotide variant Inborn genetic diseases [RCV002406196] Chr6:131604259 [GRCh38]
Chr6:131925399 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.89C>A (p.Pro30His) single nucleotide variant Inborn genetic diseases [RCV002376319] Chr6:131627466 [GRCh38]
Chr6:131948606 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.265A>G (p.Thr89Ala) single nucleotide variant Inborn genetic diseases [RCV002428727] Chr6:131624884 [GRCh38]
Chr6:131946024 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.191T>C (p.Val64Ala) single nucleotide variant Inborn genetic diseases [RCV002410685] Chr6:131624958 [GRCh38]
Chr6:131946098 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.513dup (p.Lys172fs) duplication Arginase deficiency [RCV002319750] Chr6:131582666..131582667 [GRCh38]
Chr6:131903806..131903807 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.2430A>G (p.Val810=) single nucleotide variant Inborn genetic diseases [RCV002455410] Chr6:131598464 [GRCh38]
Chr6:131919604 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.1833G>A (p.Arg611=) single nucleotide variant Inborn genetic diseases [RCV002413024] Chr6:131603128 [GRCh38]
Chr6:131924268 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.2727A>G (p.Pro909=) single nucleotide variant Inborn genetic diseases [RCV002439282] Chr6:131596569 [GRCh38]
Chr6:131917709 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.2601C>T (p.Leu867=) single nucleotide variant Inborn genetic diseases [RCV002426374] Chr6:131598293 [GRCh38]
Chr6:131919433 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.140_141del (p.Val47fs) microsatellite Arginase deficiency [RCV002306724] Chr6:131579118..131579119 [GRCh38]
Chr6:131900258..131900259 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.421A>G (p.Ile141Val) single nucleotide variant Inborn genetic diseases [RCV002328017] Chr6:131621955 [GRCh38]
Chr6:131943095 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.148_149insTTATGTAGTGCAAC (p.Tyr50delinsPheMetTer) insertion Arginase deficiency [RCV002306636] Chr6:131579128..131579129 [GRCh38]
Chr6:131900268..131900269 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.1446T>G (p.Ser482=) single nucleotide variant Inborn genetic diseases [RCV002396798] Chr6:131605407 [GRCh38]
Chr6:131926547 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.839C>T (p.Pro280Leu) single nucleotide variant Arginase deficiency [RCV002838396] Chr6:131583778 [GRCh38]
Chr6:131904918 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.589T>C (p.Tyr197His) single nucleotide variant Arginase deficiency [RCV002775836] Chr6:131583088 [GRCh38]
Chr6:131904228 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.293G>T (p.Cys98Phe) single nucleotide variant Inborn genetic diseases [RCV002754674] Chr6:131623454 [GRCh38]
Chr6:131944594 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.203A>G (p.His68Arg) single nucleotide variant Inborn genetic diseases [RCV002817587] Chr6:131624946 [GRCh38]
Chr6:131946086 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.673A>C (p.Arg225=) single nucleotide variant Arginase deficiency [RCV002996422] Chr6:131583362 [GRCh38]
Chr6:131904502 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.2528T>C (p.Leu843Pro) single nucleotide variant Intellectual disability, autosomal recessive 18 [RCV003234203]|not provided [RCV002462648] Chr6:131598366 [GRCh38]
Chr6:131919506 [GRCh37]
Chr6:6q23.2		 uncertain significance|not provided
NM_000045.4(ARG1):c.58-18T>C single nucleotide variant Arginase deficiency [RCV002816532] Chr6:131576645 [GRCh38]
Chr6:131897785 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.157del (p.Leu53fs) deletion Arginase deficiency [RCV002819880] Chr6:131579136 [GRCh38]
Chr6:131900276 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.827T>C (p.Met276Thr) single nucleotide variant Arginase deficiency [RCV002750237] Chr6:131583766 [GRCh38]
Chr6:131904906 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.3951T>G (p.Ile1317Met) single nucleotide variant Inborn genetic diseases [RCV002882337] Chr6:131587835 [GRCh38]
Chr6:131908975 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.275G>T (p.Arg92Ile) single nucleotide variant Arginase deficiency [RCV002617102] Chr6:131579255 [GRCh38]
Chr6:131900395 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.665+11_665+27del deletion Arginase deficiency [RCV003033459] Chr6:131583174..131583190 [GRCh38]
Chr6:131904314..131904330 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.270C>A (p.Asn90Lys) single nucleotide variant Inborn genetic diseases [RCV002818345] Chr6:131579250 [GRCh38]
Chr6:131900390 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.282C>T (p.Ser94=) single nucleotide variant Arginase deficiency [RCV002991361] Chr6:131579262 [GRCh38]
Chr6:131900402 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.237G>C (p.Gln79His) single nucleotide variant Arginase deficiency [RCV003066912]|Inborn genetic diseases [RCV003074348] Chr6:131579217 [GRCh38]
Chr6:131900357 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.131-9T>C single nucleotide variant Arginase deficiency [RCV002904542] Chr6:131579102 [GRCh38]
Chr6:131900242 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.815dup (p.Tyr272Ter) duplication Inborn genetic diseases [RCV002840039] Chr6:131615967..131615968 [GRCh38]
Chr6:131937107..131937108 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.130+9_130+10insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAACAAGGTAATTTTT insertion Arginase deficiency [RCV003011625] Chr6:131576727..131576728 [GRCh38]
Chr6:131897867..131897868 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.957C>A (p.Asn319Lys) single nucleotide variant Arginase deficiency [RCV002617248] Chr6:131583896 [GRCh38]
Chr6:131905036 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.356T>A (p.Phe119Tyr) single nucleotide variant Inborn genetic diseases [RCV002907419] Chr6:131623391 [GRCh38]
Chr6:131944531 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.130+8_130+9del deletion Arginase deficiency [RCV003032558] Chr6:131576740..131576741 [GRCh38]
Chr6:131897880..131897881 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.440T>C (p.Phe147Ser) single nucleotide variant Arginase deficiency [RCV002885617] Chr6:131581353 [GRCh38]
Chr6:131902493 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.929G>T (p.Gly310Val) single nucleotide variant Arginase deficiency [RCV002620618] Chr6:131583868 [GRCh38]
Chr6:131905008 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.92T>G (p.Leu31Trp) single nucleotide variant Arginase deficiency [RCV003081735] Chr6:131576697 [GRCh38]
Chr6:131897837 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.594_595dup (p.Ser199fs) duplication Arginase deficiency [RCV002953800] Chr6:131583090..131583091 [GRCh38]
Chr6:131904230..131904231 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.640del (p.Glu214fs) deletion Arginase deficiency [RCV003039629] Chr6:131583139 [GRCh38]
Chr6:131904279 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.789A>T (p.Glu263Asp) single nucleotide variant Arginase deficiency [RCV002998863] Chr6:131583478 [GRCh38]
Chr6:131904618 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.724C>T (p.Pro242Ser) single nucleotide variant Arginase deficiency [RCV002640409] Chr6:131583413 [GRCh38]
Chr6:131904553 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.69G>A (p.Gly23=) single nucleotide variant Arginase deficiency [RCV003003319] Chr6:131576674 [GRCh38]
Chr6:131897814 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.231C>T (p.Ser77=) single nucleotide variant Arginase deficiency [RCV002640208] Chr6:131579211 [GRCh38]
Chr6:131900351 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.900C>G (p.Thr300=) single nucleotide variant Arginase deficiency [RCV003020101] Chr6:131583839 [GRCh38]
Chr6:131904979 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.159G>T (p.Leu53=) single nucleotide variant Arginase deficiency [RCV003077427] Chr6:131579139 [GRCh38]
Chr6:131900279 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.789A>G (p.Glu263=) single nucleotide variant Arginase deficiency [RCV003019723] Chr6:131583478 [GRCh38]
Chr6:131904618 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.420G>A (p.Leu140=) single nucleotide variant Arginase deficiency [RCV002705680] Chr6:131581333 [GRCh38]
Chr6:131902473 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.646C>G (p.Leu216Val) single nucleotide variant Arginase deficiency [RCV002975941] Chr6:131583145 [GRCh38]
Chr6:131904285 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.787G>A (p.Glu263Lys) single nucleotide variant Arginase deficiency [RCV003100210] Chr6:131583476 [GRCh38]
Chr6:131904616 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.3565C>T (p.Arg1189Cys) single nucleotide variant Inborn genetic diseases [RCV002798712] Chr6:131591434 [GRCh38]
Chr6:131912574 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.124_125insT (p.Glu42fs) insertion Arginase deficiency [RCV002870839] Chr6:131576729..131576730 [GRCh38]
Chr6:131897869..131897870 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.553G>C (p.Gly185Arg) single nucleotide variant Arginase deficiency [RCV003081201] Chr6:131582708 [GRCh38]
Chr6:131903848 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.1810C>T (p.Leu604Phe) single nucleotide variant Inborn genetic diseases [RCV002799783] Chr6:131603151 [GRCh38]
Chr6:131924291 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.58-8T>C single nucleotide variant Arginase deficiency [RCV002823768] Chr6:131576655 [GRCh38]
Chr6:131897795 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.915A>G (p.Gly305=) single nucleotide variant Arginase deficiency [RCV002781559] Chr6:131583854 [GRCh38]
Chr6:131904994 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.162C>T (p.Pro54=) single nucleotide variant Arginase deficiency [RCV002796505] Chr6:131579142 [GRCh38]
Chr6:131900282 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.568T>C (p.Leu190=) single nucleotide variant Arginase deficiency [RCV002796242] Chr6:131583067 [GRCh38]
Chr6:131904207 [GRCh37]
Chr6:6q23.2		 likely benign
NM_015979.4(MED23):c.4095+4355_4095+4358del microsatellite Arginase deficiency [RCV002891181] Chr6:131583351..131583354 [GRCh38]
Chr6:131904491..131904494 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.582C>T (p.Gly194=) single nucleotide variant Arginase deficiency [RCV002741810] Chr6:131583081 [GRCh38]
Chr6:131904221 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.3533C>T (p.Thr1178Met) single nucleotide variant Inborn genetic diseases [RCV002713076] Chr6:131591466 [GRCh38]
Chr6:131912606 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.241G>T (p.Ala81Ser) single nucleotide variant Arginase deficiency [RCV003007903] Chr6:131579221 [GRCh38]
Chr6:131900361 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.318A>G (p.Gly106=) single nucleotide variant Arginase deficiency [RCV003005561] Chr6:131581231 [GRCh38]
Chr6:131902371 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.666-18_666-14del deletion Arginase deficiency [RCV003084379] Chr6:131583334..131583338 [GRCh38]
Chr6:131904474..131904478 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.802+1G>A single nucleotide variant Arginase deficiency [RCV002928484] Chr6:131583492 [GRCh38]
Chr6:131904632 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.306-1G>T single nucleotide variant Arginase deficiency [RCV002741312] Chr6:131581218 [GRCh38]
Chr6:131902358 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.666-2A>C single nucleotide variant Arginase deficiency [RCV003056323] Chr6:131583353 [GRCh38]
Chr6:131904493 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.770G>T (p.Gly257Val) single nucleotide variant Arginase deficiency [RCV003083680] Chr6:131583459 [GRCh38]
Chr6:131904599 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.168T>A (p.Ala56=) single nucleotide variant Arginase deficiency [RCV003057270] Chr6:131579148 [GRCh38]
Chr6:131900288 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.157C>T (p.Leu53=) single nucleotide variant Arginase deficiency [RCV003059565] Chr6:131579137 [GRCh38]
Chr6:131900277 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.3566G>A (p.Arg1189His) single nucleotide variant Inborn genetic diseases [RCV002697462] Chr6:131591433 [GRCh38]
Chr6:131912573 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.4083C>T (p.Pro1361=) single nucleotide variant Inborn genetic diseases [RCV002767496] Chr6:131587703 [GRCh38]
Chr6:131908843 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.259G>A (p.Val87Ile) single nucleotide variant Inborn genetic diseases [RCV002892866] Chr6:131624890 [GRCh38]
Chr6:131946030 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.364T>G (p.Trp122Gly) single nucleotide variant Arginase deficiency [RCV003040991] Chr6:131581277 [GRCh38]
Chr6:131902417 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.159_163del (p.Pro54fs) deletion Arginase deficiency [RCV003040558] Chr6:131579136..131579140 [GRCh38]
Chr6:131900276..131900280 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.371A>G (p.Asp124Gly) single nucleotide variant Arginase deficiency [RCV002765367] Chr6:131581284 [GRCh38]
Chr6:131902424 [GRCh37]
Chr6:6q23.2		 pathogenic|uncertain significance
NM_000045.4(ARG1):c.561-6T>C single nucleotide variant Arginase deficiency [RCV002700388] Chr6:131583054 [GRCh38]
Chr6:131904194 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.159G>A (p.Leu53=) single nucleotide variant Arginase deficiency [RCV002721106] Chr6:131579139 [GRCh38]
Chr6:131900279 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.2998C>T (p.Arg1000Cys) single nucleotide variant Inborn genetic diseases [RCV002856072] Chr6:131594333 [GRCh38]
Chr6:131915473 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.128A>G (p.Gln43Arg) single nucleotide variant Arginase deficiency [RCV002631299] Chr6:131576733 [GRCh38]
Chr6:131897873 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.232G>A (p.Glu78Lys) single nucleotide variant Arginase deficiency [RCV003091232] Chr6:131579212 [GRCh38]
Chr6:131900352 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.2813C>T (p.Ala938Val) single nucleotide variant Inborn genetic diseases [RCV002940106] Chr6:131596129 [GRCh38]
Chr6:131917269 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.803-12TTG[2] microsatellite Arginase deficiency [RCV002631989] Chr6:131583730..131583732 [GRCh38]
Chr6:131904870..131904872 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.131-4T>A single nucleotide variant Arginase deficiency [RCV002966607] Chr6:131579107 [GRCh38]
Chr6:131900247 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.362T>C (p.Ile121Thr) single nucleotide variant Arginase deficiency [RCV002576960] Chr6:131581275 [GRCh38]
Chr6:131902415 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.673del (p.Arg225fs) deletion Arginase deficiency [RCV003060081] Chr6:131583359 [GRCh38]
Chr6:131904499 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_004830.4(MED23):c.538G>C (p.Ala180Pro) single nucleotide variant Inborn genetic diseases [RCV002702872] Chr6:131620687 [GRCh38]
Chr6:131941827 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.67G>T (p.Gly23Trp) single nucleotide variant Arginase deficiency [RCV003061233] Chr6:131576672 [GRCh38]
Chr6:131897812 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.58-18T>A single nucleotide variant Arginase deficiency [RCV002810314] Chr6:131576645 [GRCh38]
Chr6:131897785 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.832G>C (p.Val278Leu) single nucleotide variant Arginase deficiency [RCV003028530] Chr6:131583771 [GRCh38]
Chr6:131904911 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.934C>T (p.His312Tyr) single nucleotide variant Arginase deficiency [RCV003063449] Chr6:131583873 [GRCh38]
Chr6:131905013 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.401C>T (p.Thr134Ile) single nucleotide variant Arginase deficiency [RCV003060080] Chr6:131581314 [GRCh38]
Chr6:131902454 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.306-1del deletion Arginase deficiency [RCV002631007] Chr6:131581218 [GRCh38]
Chr6:131902358 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.230C>A (p.Ser77Tyr) single nucleotide variant Inborn genetic diseases [RCV002897658] Chr6:131624919 [GRCh38]
Chr6:131946059 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.285-3T>C single nucleotide variant Inborn genetic diseases [RCV002702601] Chr6:131623465 [GRCh38]
Chr6:131944605 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.802+4G>C single nucleotide variant Arginase deficiency [RCV002938251] Chr6:131583495 [GRCh38]
Chr6:131904635 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.519T>C (p.Asp173=) single nucleotide variant Arginase deficiency [RCV002877064] Chr6:131582674 [GRCh38]
Chr6:131903814 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.879G>C (p.Val293=) single nucleotide variant Arginase deficiency [RCV003087579] Chr6:131583818 [GRCh38]
Chr6:131904958 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.1706G>A (p.Arg569His) single nucleotide variant Inborn genetic diseases [RCV002703254] Chr6:131604228 [GRCh38]
Chr6:131925368 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.533G>A (p.Gly178Asp) single nucleotide variant Arginase deficiency [RCV002770366] Chr6:131582688 [GRCh38]
Chr6:131903828 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.687A>C (p.Leu229=) single nucleotide variant Arginase deficiency [RCV002832850] Chr6:131583376 [GRCh38]
Chr6:131904516 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.920C>T (p.Ala307Val) single nucleotide variant Arginase deficiency [RCV002601762] Chr6:131583859 [GRCh38]
Chr6:131904999 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.2354C>T (p.Ser785Phe) single nucleotide variant Inborn genetic diseases [RCV002935036] Chr6:131598628 [GRCh38]
Chr6:131919768 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.157C>G (p.Gln53Glu) single nucleotide variant Inborn genetic diseases [RCV002936290] Chr6:131627398 [GRCh38]
Chr6:131948538 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.516G>A (p.Lys172=) single nucleotide variant Arginase deficiency [RCV002600828] Chr6:131582671 [GRCh38]
Chr6:131903811 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.906T>G (p.Ala302=) single nucleotide variant Arginase deficiency [RCV003066327] Chr6:131583845 [GRCh38]
Chr6:131904985 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.104G>A (p.Gly35Asp) single nucleotide variant Arginase deficiency [RCV002657954] Chr6:131576709 [GRCh38]
Chr6:131897849 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.665+7T>G single nucleotide variant Arginase deficiency [RCV002608264] Chr6:131583171 [GRCh38]
Chr6:131904311 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.1078-6T>G single nucleotide variant Intellectual disability, autosomal recessive 18 [RCV003148349] Chr6:131608077 [GRCh38]
Chr6:131929217 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.1221+4A>T single nucleotide variant not provided [RCV003128893] Chr6:131607924 [GRCh38]
Chr6:131929064 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.673A>G (p.Arg225Gly) single nucleotide variant Arginase deficiency [RCV002681018] Chr6:131583362 [GRCh38]
Chr6:131904502 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.84T>C (p.Pro28=) single nucleotide variant Arginase deficiency [RCV003072675] Chr6:131576689 [GRCh38]
Chr6:131897829 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.306-7C>T single nucleotide variant Arginase deficiency [RCV002606926] Chr6:131581212 [GRCh38]
Chr6:131902352 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.666-5A>G single nucleotide variant Arginase deficiency [RCV002607948] Chr6:131583350 [GRCh38]
Chr6:131904490 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.646C>T (p.Leu216Phe) single nucleotide variant Arginase deficiency [RCV002603738] Chr6:131583145 [GRCh38]
Chr6:131904285 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.242C>T (p.Ala81Val) single nucleotide variant Arginase deficiency [RCV002612019] Chr6:131579222 [GRCh38]
Chr6:131900362 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.2848C>G (p.Pro950Ala) single nucleotide variant Inborn genetic diseases [RCV003215729] Chr6:131596094 [GRCh38]
Chr6:131917234 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.119T>C (p.Leu40Pro) single nucleotide variant Inborn genetic diseases [RCV003195193] Chr6:131576724 [GRCh38]
Chr6:131897864 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.2441T>C (p.Ile814Thr) single nucleotide variant Inborn genetic diseases [RCV003184148] Chr6:131598453 [GRCh38]
Chr6:131919593 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.1844T>C (p.Ile615Thr) single nucleotide variant Inborn genetic diseases [RCV003208495] Chr6:131603117 [GRCh38]
Chr6:131924257 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.353C>T (p.Thr118Ile) single nucleotide variant not provided [RCV003318788] Chr6:131623394 [GRCh38]
Chr6:131944534 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.3233C>T (p.Thr1078Met) single nucleotide variant Inborn genetic diseases [RCV003373236] Chr6:131593171 [GRCh38]
Chr6:131914311 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.633del (p.Met212fs) deletion Arginase deficiency [RCV003463483] Chr6:131583132 [GRCh38]
Chr6:131904272 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.341_344dup (p.Asp117fs) duplication Arginase deficiency [RCV003463493] Chr6:131581253..131581254 [GRCh38]
Chr6:131902393..131902394 [GRCh37]
Chr6:6q23.2		 pathogenic|likely pathogenic
NM_004830.4(MED23):c.4073A>T (p.Asn1358Ile) single nucleotide variant Inborn genetic diseases [RCV003376014] Chr6:131587713 [GRCh38]
Chr6:131908853 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.103G>A (p.Gly35Ser) single nucleotide variant Arginase deficiency [RCV003448831] Chr6:131576708 [GRCh38]
Chr6:131897848 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.295_301del (p.Gly99fs) deletion Arginase deficiency [RCV003463490] Chr6:131579274..131579280 [GRCh38]
Chr6:131900414..131900420 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.603del (p.Glu202fs) deletion Arginase deficiency [RCV003463501] Chr6:131583102 [GRCh38]
Chr6:131904242 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_004830.4(MED23):c.3078C>T (p.Leu1026=) single nucleotide variant not provided [RCV003457144] Chr6:131594253 [GRCh38]
Chr6:131915393 [GRCh37]
Chr6:6q23.2		 likely benign
GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1 copy number loss not provided [RCV003482930] Chr6:120218852..137160850 [GRCh37]
Chr6:6q22.31-23.3		 pathogenic
NM_000045.4(ARG1):c.802+2T>C single nucleotide variant Arginase deficiency [RCV003471805] Chr6:131583493 [GRCh38]
Chr6:131904633 [GRCh37]
Chr6:6q23.2		 likely pathogenic
GRCh37/hg19 6q23.2(chr6:131624205-132219490)x3 copy number gain not provided [RCV003484651] Chr6:131624205..132219490 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.374C>T (p.Ala125Val) single nucleotide variant Arginase deficiency [RCV003463454] Chr6:131581287 [GRCh38]
Chr6:131902427 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.700G>C (p.Asp234His) single nucleotide variant Arginase deficiency [RCV003463502] Chr6:131583389 [GRCh38]
Chr6:131904529 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_004830.4(MED23):c.2976A>C (p.Gly992=) single nucleotide variant not provided [RCV003428947] Chr6:131595966 [GRCh38]
Chr6:131917106 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.491G>A (p.Trp164Ter) single nucleotide variant Arginase deficiency [RCV003471784] Chr6:131582646 [GRCh38]
Chr6:131903786 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.666-2A>T single nucleotide variant Arginase deficiency [RCV003471816] Chr6:131583353 [GRCh38]
Chr6:131904493 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.70dup (p.Val24fs) duplication Arginase deficiency [RCV003471819] Chr6:131576671..131576672 [GRCh38]
Chr6:131897811..131897812 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.815del (p.Gly272fs) deletion Arginase deficiency [RCV003471793] Chr6:131583753 [GRCh38]
Chr6:131904893 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.1493C>T (p.Thr498Ile) single nucleotide variant MED23-related condition [RCV003402786] Chr6:131605360 [GRCh38]
Chr6:131926500 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_004830.4(MED23):c.1524T>G (p.Pro508=) single nucleotide variant not provided [RCV003428948] Chr6:131605329 [GRCh38]
Chr6:131926469 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.232dup (p.Glu78fs) duplication Arginase deficiency [RCV003471814] Chr6:131579211..131579212 [GRCh38]
Chr6:131900351..131900352 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.707dup (p.Asp237fs) duplication Arginase deficiency [RCV003471823] Chr6:131583395..131583396 [GRCh38]
Chr6:131904535..131904536 [GRCh37]
Chr6:6q23.2		 pathogenic|likely pathogenic
NM_000045.4(ARG1):c.829del (p.Glu277fs) deletion Arginase deficiency [RCV003471824] Chr6:131583767 [GRCh38]
Chr6:131904907 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.131-8_131-2del deletion Arginase deficiency [RCV003463465] Chr6:131579103..131579109 [GRCh38]
Chr6:131900243..131900249 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.679dup (p.Ile227fs) duplication Arginase deficiency [RCV003463496] Chr6:131583366..131583367 [GRCh38]
Chr6:131904506..131904507 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.465+1G>A single nucleotide variant Arginase deficiency [RCV003463503] Chr6:131581379 [GRCh38]
Chr6:131902519 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_004830.4(MED23):c.3281dup (p.Asn1095fs) duplication MED23-related condition [RCV003414536] Chr6:131593122..131593123 [GRCh38]
Chr6:131914262..131914263 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.513C>T (p.Ala171=) single nucleotide variant Arginase deficiency [RCV003497563] Chr6:131582668 [GRCh38]
Chr6:131903808 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.435_438dup (p.Phe147fs) duplication Arginase deficiency [RCV003499002] Chr6:131581346..131581347 [GRCh38]
Chr6:131902486..131902487 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.326_353del (p.Ser109fs) deletion Arginase deficiency [RCV003602618] Chr6:131581235..131581262 [GRCh38]
Chr6:131902375..131902402 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.802+9C>A single nucleotide variant Arginase deficiency [RCV003603376] Chr6:131583500 [GRCh38]
Chr6:131904640 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.665+19T>C single nucleotide variant Arginase deficiency [RCV003603382] Chr6:131583183 [GRCh38]
Chr6:131904323 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.665+23_665+36del deletion Arginase deficiency [RCV003603539] Chr6:131583177..131583190 [GRCh38]
Chr6:131904317..131904330 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.87A>C (p.Thr29=) single nucleotide variant Arginase deficiency [RCV003603663] Chr6:131576692 [GRCh38]
Chr6:131897832 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.447G>C (p.Leu149=) single nucleotide variant Arginase deficiency [RCV003604048] Chr6:131581360 [GRCh38]
Chr6:131902500 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.560+15T>C single nucleotide variant Arginase deficiency [RCV003604704] Chr6:131582730 [GRCh38]
Chr6:131903870 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.465+9C>T single nucleotide variant Arginase deficiency [RCV003876392] Chr6:131581387 [GRCh38]
Chr6:131902527 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.561-12TC[4] microsatellite Arginase deficiency [RCV003498889] Chr6:131583047..131583048 [GRCh38]
Chr6:131904187..131904188 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.305+16T>C single nucleotide variant Arginase deficiency [RCV003602753] Chr6:131579301 [GRCh38]
Chr6:131900441 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.560+19G>A single nucleotide variant Arginase deficiency [RCV003602968] Chr6:131582734 [GRCh38]
Chr6:131903874 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.306-1_307dup duplication Arginase deficiency [RCV003603311] Chr6:131581217..131581218 [GRCh38]
Chr6:131902357..131902358 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.657A>G (p.Leu219=) single nucleotide variant Arginase deficiency [RCV003603398] Chr6:131583156 [GRCh38]
Chr6:131904296 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.399G>A (p.Leu133=) single nucleotide variant Arginase deficiency [RCV003603503] Chr6:131581312 [GRCh38]
Chr6:131902452 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.144G>A (p.Lys48=) single nucleotide variant Arginase deficiency [RCV003603620] Chr6:131579124 [GRCh38]
Chr6:131900264 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.171C>T (p.Asp57=) single nucleotide variant Arginase deficiency [RCV003497780] Chr6:131579151 [GRCh38]
Chr6:131900291 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.130+20del deletion Arginase deficiency [RCV003604215] Chr6:131576751 [GRCh38]
Chr6:131897891 [GRCh37]
Chr6:6q23.2		 benign
NM_000045.4(ARG1):c.803-20A>G single nucleotide variant Arginase deficiency [RCV003604326] Chr6:131583722 [GRCh38]
Chr6:131904862 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.321C>T (p.Ser107=) single nucleotide variant Arginase deficiency [RCV003604681] Chr6:131581234 [GRCh38]
Chr6:131902374 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.459dup (p.Gly154fs) duplication Arginase deficiency [RCV003604805] Chr6:131581368..131581369 [GRCh38]
Chr6:131902508..131902509 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.336C>G (p.Ala112=) single nucleotide variant Arginase deficiency [RCV003604843] Chr6:131581249 [GRCh38]
Chr6:131902389 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.131-19C>G single nucleotide variant Arginase deficiency [RCV003602585] Chr6:131579092 [GRCh38]
Chr6:131900232 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.306-11T>C single nucleotide variant Arginase deficiency [RCV003602670] Chr6:131581208 [GRCh38]
Chr6:131902348 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.357A>C (p.Gly119=) single nucleotide variant Arginase deficiency [RCV003602697] Chr6:131581270 [GRCh38]
Chr6:131902410 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.457_465+18del deletion Arginase deficiency [RCV003497727] Chr6:131581368..131581394 [GRCh38]
Chr6:131902508..131902534 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.803-17A>G single nucleotide variant Arginase deficiency [RCV003497773] Chr6:131583725 [GRCh38]
Chr6:131904865 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.876A>T (p.Thr292=) single nucleotide variant Arginase deficiency [RCV003498793] Chr6:131583815 [GRCh38]
Chr6:131904955 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.924G>T (p.Arg308=) single nucleotide variant Arginase deficiency [RCV003603746] Chr6:131583863 [GRCh38]
Chr6:131905003 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.58-16T>C single nucleotide variant Arginase deficiency [RCV003603909] Chr6:131576647 [GRCh38]
Chr6:131897787 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.665+18G>A single nucleotide variant Arginase deficiency [RCV003603927] Chr6:131583182 [GRCh38]
Chr6:131904322 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.306-9C>T single nucleotide variant Arginase deficiency [RCV003604090] Chr6:131581210 [GRCh38]
Chr6:131902350 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.666-13C>T single nucleotide variant Arginase deficiency [RCV003604212] Chr6:131583342 [GRCh38]
Chr6:131904482 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.58-2A>T single nucleotide variant Arginase deficiency [RCV003604327] Chr6:131576661 [GRCh38]
Chr6:131897801 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.131-1G>T single nucleotide variant Arginase deficiency [RCV003604465] Chr6:131579110 [GRCh38]
Chr6:131900250 [GRCh37]
Chr6:6q23.2		 likely pathogenic
NM_000045.4(ARG1):c.131-14C>T single nucleotide variant Arginase deficiency [RCV003604658] Chr6:131579097 [GRCh38]
Chr6:131900237 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.664A>G (p.Arg222Gly) single nucleotide variant Arginase deficiency [RCV003604753] Chr6:131583163 [GRCh38]
Chr6:131904303 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.141G>A (p.Val47=) single nucleotide variant Arginase deficiency [RCV003604828] Chr6:131579121 [GRCh38]
Chr6:131900261 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.648C>T (p.Leu216=) single nucleotide variant Arginase deficiency [RCV003499890] Chr6:131583147 [GRCh38]
Chr6:131904287 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.918T>C (p.Leu306=) single nucleotide variant Arginase deficiency [RCV003604888] Chr6:131583857 [GRCh38]
Chr6:131904997 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.305+11A>G single nucleotide variant Arginase deficiency [RCV003497480] Chr6:131579296 [GRCh38]
Chr6:131900436 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.561-20T>C single nucleotide variant Arginase deficiency [RCV003497696] Chr6:131583040 [GRCh38]
Chr6:131904180 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.837C>T (p.Asn279=) single nucleotide variant Arginase deficiency [RCV003498811] Chr6:131583776 [GRCh38]
Chr6:131904916 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.795C>T (p.Tyr265=) single nucleotide variant Arginase deficiency [RCV003498874] Chr6:131583484 [GRCh38]
Chr6:131904624 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.802+15_802+19del deletion Arginase deficiency [RCV003499022] Chr6:131583505..131583509 [GRCh38]
Chr6:131904645..131904649 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.306-15T>C single nucleotide variant Arginase deficiency [RCV003499643] Chr6:131581204 [GRCh38]
Chr6:131902344 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.306-10dup duplication Arginase deficiency [RCV003880850] Chr6:131581203..131581204 [GRCh38]
Chr6:131902343..131902344 [GRCh37]
Chr6:6q23.2		 benign
NM_000045.4(ARG1):c.252G>A (p.Val84=) single nucleotide variant Arginase deficiency [RCV003603386] Chr6:131579232 [GRCh38]
Chr6:131900372 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.330C>A (p.Gly110=) single nucleotide variant Arginase deficiency [RCV003603392] Chr6:131581243 [GRCh38]
Chr6:131902383 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.927G>A (p.Glu309=) single nucleotide variant Arginase deficiency [RCV003603594] Chr6:131583866 [GRCh38]
Chr6:131905006 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.877del (p.Thr292_Val293insTer) deletion Arginase deficiency [RCV003603830] Chr6:131583816 [GRCh38]
Chr6:131904956 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.760T>C (p.Tyr254His) single nucleotide variant Arginase deficiency [RCV003603861] Chr6:131583449 [GRCh38]
Chr6:131904589 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.429A>G (p.Gln143=) single nucleotide variant Arginase deficiency [RCV003497363] Chr6:131581342 [GRCh38]
Chr6:131902482 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.665+7T>C single nucleotide variant Arginase deficiency [RCV003497816] Chr6:131583171 [GRCh38]
Chr6:131904311 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.264G>A (p.Lys88=) single nucleotide variant Arginase deficiency [RCV003604731] Chr6:131579244 [GRCh38]
Chr6:131900384 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.375T>G (p.Ala125=) single nucleotide variant Arginase deficiency [RCV003604788] Chr6:131581288 [GRCh38]
Chr6:131902428 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.462A>G (p.Gly154=) single nucleotide variant Arginase deficiency [RCV003604989] Chr6:131581375 [GRCh38]
Chr6:131902515 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.817T>C (p.Leu273=) single nucleotide variant Arginase deficiency [RCV003604235] Chr6:131583756 [GRCh38]
Chr6:131904896 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.131-9T>A single nucleotide variant Arginase deficiency [RCV003497659] Chr6:131579102 [GRCh38]
Chr6:131900242 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.876A>G (p.Thr292=) single nucleotide variant Arginase deficiency [RCV003498238] Chr6:131583815 [GRCh38]
Chr6:131904955 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.802+12T>G single nucleotide variant Arginase deficiency [RCV003499380] Chr6:131583503 [GRCh38]
Chr6:131904643 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.261C>A (p.Val87=) single nucleotide variant Arginase deficiency [RCV003499505] Chr6:131579241 [GRCh38]
Chr6:131900381 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.665+13TG[3] microsatellite Arginase deficiency [RCV003832191] Chr6:131583177..131583178 [GRCh38]
Chr6:131904317..131904318 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.884C>A (p.Thr295Lys) single nucleotide variant Arginase deficiency [RCV003855518] Chr6:131583823 [GRCh38]
Chr6:131904963 [GRCh37]
Chr6:6q23.2		 uncertain significance
NM_000045.4(ARG1):c.665+20G>A single nucleotide variant Arginase deficiency [RCV003852195] Chr6:131583184 [GRCh38]
Chr6:131904324 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.493dup (p.Val165fs) duplication Arginase deficiency [RCV003840068] Chr6:131582645..131582646 [GRCh38]
Chr6:131903785..131903786 [GRCh37]
Chr6:6q23.2		 pathogenic
NM_000045.4(ARG1):c.111T>C (p.Leu37=) single nucleotide variant Arginase deficiency [RCV003851114] Chr6:131576716 [GRCh38]
Chr6:131897856 [GRCh37]
Chr6:6q23.2		 likely benign
NM_000045.4(ARG1):c.466-13A>T single nucleotide variant Arginase deficiency [RCV003847344] Chr6:131582608 [GRCh38]
Chr6:131903748 [GRCh37]
Chr6:6q23.2		 likely benign
GRCh37/hg19 6q23.1-23.2(chr6:130983223-132108647)x3 copy number gain not specified [RCV003986670] Chr6:130983223..132108647 [GRCh37]
Chr6:6q23.1-23.2		 uncertain significance
GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3 copy number gain not specified [RCV003986631] Chr6:119840686..156623091 [GRCh37]
Chr6:6q22.31-25.3		 pathogenic
GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3 copy number gain not specified [RCV003986625] Chr6:110546061..131896074 [GRCh37]
Chr6:6q21-23.2		 likely pathogenic
NM_000045.4(ARG1):c.877G>C (p.Val293Leu) single nucleotide variant Arginase deficiency [RCV003870236] Chr6:131583816 [GRCh38]
Chr6:131904956 [GRCh37]
Chr6:6q23.2		 uncertain significance
GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3 copy number gain not specified [RCV003986663] Chr6:131569837..145572239 [GRCh37]
Chr6:6q23.2-24.2		 pathogenic
NM_000045.4(ARG1):c.306-12T>C single nucleotide variant Arginase deficiency [RCV003818755] Chr6:131581207 [GRCh38]
Chr6:131902347 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.1077+5G>A single nucleotide variant MED23-related condition [RCV003961548] Chr6:131610041 [GRCh38]
Chr6:131931181 [GRCh37]
Chr6:6q23.2		 likely benign
NM_004830.4(MED23):c.40-7_40-5dup duplication MED23-related condition [RCV003984565] Chr6:131627676..131627677 [GRCh38]
Chr6:131948816..131948817 [GRCh37]
Chr6:6q23.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1598
Count of miRNA genes:714
Interacting mature miRNAs:812
Transcripts:ENST00000354577, ENST00000368053, ENST00000368058, ENST00000368060, ENST00000368068, ENST00000403834, ENST00000479213, ENST00000484885, ENST00000489888, ENST00000539158, ENST00000540546, ENST00000545957
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
SHGC-16174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376131,900,710 - 131,900,897UniSTSGRCh37
Build 366131,942,403 - 131,942,590RGDNCBI36
Celera6132,647,349 - 132,647,536RGD
Cytogenetic Map6q23UniSTS
Cytogenetic Map6q22.33-q24.1UniSTS
HuRef6129,481,894 - 129,482,081UniSTS
Stanford-G3 RH Map65356.0UniSTS
NCBI RH Map61528.3UniSTS
GeneMap99-G3 RH Map65659.0UniSTS
RH46810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376131,900,771 - 131,900,910UniSTSGRCh37
Build 366131,942,464 - 131,942,603RGDNCBI36
Celera6132,647,410 - 132,647,549RGD
Cytogenetic Map6q23UniSTS
Cytogenetic Map6q22.33-q24.1UniSTS
HuRef6129,481,955 - 129,482,094UniSTS
GeneMap99-GB4 RH Map6526.37UniSTS
GDB:190876  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376131,905,481 - 131,905,576UniSTSGRCh37
Build 366131,947,174 - 131,947,269RGDNCBI36
Celera6132,652,121 - 132,652,216RGD
Cytogenetic Map6q23UniSTS
Cytogenetic Map6q22.33-q24.1UniSTS
HuRef6129,486,666 - 129,486,761UniSTS
GDB:196989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376131,905,346 - 131,905,561UniSTSGRCh37
Build 366131,947,039 - 131,947,254RGDNCBI36
Celera6132,651,986 - 132,652,201RGD
Cytogenetic Map6q23UniSTS
Cytogenetic Map6q22.33-q24.1UniSTS
HuRef6129,486,531 - 129,486,746UniSTS
RH66704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376131,907,927 - 131,908,131UniSTSGRCh37
Build 366131,949,620 - 131,949,824RGDNCBI36
Celera6132,654,567 - 132,654,771RGD
Cytogenetic Map6q22.33-q24.1UniSTS
HuRef6129,489,112 - 129,489,316UniSTS
GeneMap99-GB4 RH Map6527.59UniSTS
SGC38314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376131,902,657 - 131,902,910UniSTSGRCh37
Build 366131,944,350 - 131,944,603RGDNCBI36
Celera6132,649,296 - 132,649,549RGD
Cytogenetic Map6q23UniSTS
Cytogenetic Map6q22.33-q24.1UniSTS
HuRef6129,483,841 - 129,484,094UniSTS
GeneMap99-GB4 RH Map6526.37UniSTS
Whitehead-RH Map6749.6UniSTS
STS-N54839  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376131,913,468 - 131,913,677UniSTSGRCh37
Build 366131,955,161 - 131,955,370RGDNCBI36
Celera6132,660,108 - 132,660,317RGD
Cytogenetic Map6q22.33-q24.1UniSTS
HuRef6129,494,675 - 129,494,884UniSTS
GeneMap99-GB4 RH Map6525.24UniSTS
STS-M14502  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376131,905,258 - 131,905,427UniSTSGRCh37
Build 366131,946,951 - 131,947,120RGDNCBI36
Celera6132,651,898 - 132,652,067RGD
Cytogenetic Map6q23UniSTS
Cytogenetic Map6q22.33-q24.1UniSTS
HuRef6129,486,443 - 129,486,612UniSTS
GeneMap99-GB4 RH Map6527.79UniSTS
NCBI RH Map61538.9UniSTS
SHGC-34762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376131,941,069 - 131,941,194UniSTSGRCh37
Build 366131,982,762 - 131,982,887RGDNCBI36
Celera6132,687,708 - 132,687,833RGD
Cytogenetic Map6q22.33-q24.1UniSTS
HuRef6129,522,884 - 129,523,009UniSTS
Stanford-G3 RH Map65366.0UniSTS
GeneMap99-GB4 RH Map6527.69UniSTS
Whitehead-RH Map6751.2UniSTS
NCBI RH Map61528.6UniSTS
GeneMap99-G3 RH Map65669.0UniSTS
CRSP3-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376131,912,634 - 131,913,569UniSTSGRCh37
Celera6132,659,274 - 132,660,209UniSTS
HuRef6129,493,841 - 129,494,776UniSTS


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 1793 1284 1222 229 1164 86 3246 741 1544 192 1308 1485 158 1 884 1861 5 2
Low 646 1685 504 395 766 379 1111 1455 2190 227 151 128 16 320 927 1
Below cutoff 22 21 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB033042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF104255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF105332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF135022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI249380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW295188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB453121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000354577   ⟹   ENSP00000346588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,573,966 - 131,628,205 (-)Ensembl
RefSeq Acc Id: ENST00000368053   ⟹   ENSP00000357032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,598,251 - 131,628,199 (-)Ensembl
RefSeq Acc Id: ENST00000368058   ⟹   ENSP00000357037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,587,245 - 131,628,066 (-)Ensembl
RefSeq Acc Id: ENST00000368060   ⟹   ENSP00000357039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,586,749 - 131,628,229 (-)Ensembl
RefSeq Acc Id: ENST00000368068   ⟹   ENSP00000357047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,586,732 - 131,628,242 (-)Ensembl
RefSeq Acc Id: ENST00000479213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,586,738 - 131,596,521 (-)Ensembl
RefSeq Acc Id: ENST00000484885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,590,410 - 131,591,984 (-)Ensembl
RefSeq Acc Id: ENST00000489888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,626,961 - 131,628,200 (-)Ensembl
RefSeq Acc Id: ENST00000539158   ⟹   ENSP00000445072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6131,602,299 - 131,628,060 (-)Ensembl
RefSeq Acc Id: NM_001270521   ⟹   NP_001257450
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,573,966 - 131,628,242 (-)NCBI
GRCh376131,895,106 - 131,949,379 (-)NCBI
HuRef6129,476,289 - 129,531,194 (-)NCBI
CHM1_16132,158,892 - 132,213,170 (-)NCBI
T2T-CHM13v2.06132,768,443 - 132,822,712 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001270522   ⟹   NP_001257451
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,586,755 - 131,628,242 (-)NCBI
GRCh376131,895,106 - 131,949,379 (-)NCBI
HuRef6129,476,289 - 129,531,194 (-)NCBI
CHM1_16132,171,666 - 132,213,170 (-)NCBI
T2T-CHM13v2.06132,781,230 - 132,822,712 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376517   ⟹   NP_001363446
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,586,755 - 131,628,242 (-)NCBI
T2T-CHM13v2.06132,781,230 - 132,822,712 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376518   ⟹   NP_001363447
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,586,755 - 131,628,313 (-)NCBI
T2T-CHM13v2.06132,781,230 - 132,822,783 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376519   ⟹   NP_001363448
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,586,755 - 131,628,242 (-)NCBI
T2T-CHM13v2.06132,781,230 - 132,822,712 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376520   ⟹   NP_001363449
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,586,755 - 131,628,242 (-)NCBI
T2T-CHM13v2.06132,781,230 - 132,822,712 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376521   ⟹   NP_001363450
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,586,755 - 131,628,242 (-)NCBI
T2T-CHM13v2.06132,781,230 - 132,822,712 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376522   ⟹   NP_001363451
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,586,755 - 131,628,242 (-)NCBI
T2T-CHM13v2.06132,781,230 - 132,822,712 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376523   ⟹   NP_001363452
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,586,755 - 131,628,242 (-)NCBI
T2T-CHM13v2.06132,781,230 - 132,822,712 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376524   ⟹   NP_001363453
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,586,755 - 131,628,242 (-)NCBI
T2T-CHM13v2.06132,781,230 - 132,822,712 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004830   ⟹   NP_004821
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,586,732 - 131,628,242 (-)NCBI
GRCh376131,895,106 - 131,949,379 (-)NCBI
Build 366131,949,566 - 131,991,056 (-)NCBI Archive
HuRef6129,476,289 - 129,531,194 (-)NCBI
CHM1_16132,171,666 - 132,213,170 (-)NCBI
T2T-CHM13v2.06132,781,207 - 132,822,712 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015979   ⟹   NP_057063
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,573,966 - 131,628,242 (-)NCBI
GRCh376131,895,106 - 131,949,379 (-)NCBI
Build 366131,936,799 - 131,991,056 (-)NCBI Archive
HuRef6129,476,289 - 129,531,194 (-)NCBI
CHM1_16132,158,892 - 132,213,170 (-)NCBI
T2T-CHM13v2.06132,768,443 - 132,822,712 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006715612   ⟹   XP_006715675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,598,715 - 131,628,242 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011536257   ⟹   XP_011534559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,586,732 - 131,628,242 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047419565   ⟹   XP_047275521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,591,390 - 131,628,242 (-)NCBI
RefSeq Acc Id: XM_054356828   ⟹   XP_054212803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06132,781,207 - 132,822,712 (-)NCBI
RefSeq Acc Id: XM_054356829   ⟹   XP_054212804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06132,785,875 - 132,822,712 (-)NCBI
RefSeq Acc Id: XM_054356830   ⟹   XP_054212805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06132,793,186 - 132,822,712 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001257450 (Get FASTA)   NCBI Sequence Viewer  
  NP_001257451 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363446 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363447 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363448 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363449 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363450 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363451 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363452 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363453 (Get FASTA)   NCBI Sequence Viewer  
  NP_004821 (Get FASTA)   NCBI Sequence Viewer  
  NP_057063 (Get FASTA)   NCBI Sequence Viewer  
  XP_006715675 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534559 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275521 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212803 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212804 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212805 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD12724 (Get FASTA)   NCBI Sequence Viewer  
  AAD30202 (Get FASTA)   NCBI Sequence Viewer  
  AAD31729 (Get FASTA)   NCBI Sequence Viewer  
  AAH07088 (Get FASTA)   NCBI Sequence Viewer  
  AAH60759 (Get FASTA)   NCBI Sequence Viewer  
  ACB88848 (Get FASTA)   NCBI Sequence Viewer  
  ACB88849 (Get FASTA)   NCBI Sequence Viewer  
  ACB88850 (Get FASTA)   NCBI Sequence Viewer  
  ACB88851 (Get FASTA)   NCBI Sequence Viewer  
  ACB88852 (Get FASTA)   NCBI Sequence Viewer  
  ACB88853 (Get FASTA)   NCBI Sequence Viewer  
  ACB88854 (Get FASTA)   NCBI Sequence Viewer  
  ACB88855 (Get FASTA)   NCBI Sequence Viewer  
  ACB88856 (Get FASTA)   NCBI Sequence Viewer  
  ACB88857 (Get FASTA)   NCBI Sequence Viewer  
  ACB88858 (Get FASTA)   NCBI Sequence Viewer  
  ACB88859 (Get FASTA)   NCBI Sequence Viewer  
  ACB88860 (Get FASTA)   NCBI Sequence Viewer  
  BAA86530 (Get FASTA)   NCBI Sequence Viewer  
  BAG65476 (Get FASTA)   NCBI Sequence Viewer  
  CAB66710 (Get FASTA)   NCBI Sequence Viewer  
  EAW48049 (Get FASTA)   NCBI Sequence Viewer  
  EAW48050 (Get FASTA)   NCBI Sequence Viewer  
  EAW48051 (Get FASTA)   NCBI Sequence Viewer  
  EAW48052 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000346588
  ENSP00000346588.4
  ENSP00000357032
  ENSP00000357032.4
  ENSP00000357037
  ENSP00000357037.1
  ENSP00000357039
  ENSP00000357039.3
  ENSP00000357047
  ENSP00000357047.3
  ENSP00000445072.1
GenBank Protein Q9ULK4 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_057063   ⟸   NM_015979
- Peptide Label: isoform b
- UniProtKB: Q5JWT2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004821   ⟸   NM_004830
- Peptide Label: isoform a
- UniProtKB: Q9Y5P7 (UniProtKB/Swiss-Prot),   Q9NTU0 (UniProtKB/Swiss-Prot),   Q9NTT9 (UniProtKB/Swiss-Prot),   Q9H0J2 (UniProtKB/Swiss-Prot),   Q6P9H6 (UniProtKB/Swiss-Prot),   Q5JWT4 (UniProtKB/Swiss-Prot),   Q5JWT3 (UniProtKB/Swiss-Prot),   O95403 (UniProtKB/Swiss-Prot),   B9TX55 (UniProtKB/Swiss-Prot),   Q9Y667 (UniProtKB/Swiss-Prot),   Q9ULK4 (UniProtKB/Swiss-Prot),   Q5JWT2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001257450   ⟸   NM_001270521
- Peptide Label: isoform c
- UniProtKB: Q5JWT2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001257451   ⟸   NM_001270522
- Peptide Label: isoform d
- UniProtKB: Q5JWT2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006715675   ⟸   XM_006715612
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011534559   ⟸   XM_011536257
- Peptide Label: isoform X1
- UniProtKB: Q5JWT2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001363447   ⟸   NM_001376518
- Peptide Label: isoform f
- UniProtKB: Q5JWT2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363452   ⟸   NM_001376523
- Peptide Label: isoform k
- UniProtKB: Q5JWT2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363453   ⟸   NM_001376524
- Peptide Label: isoform l
- UniProtKB: Q5JWT2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363451   ⟸   NM_001376522
- Peptide Label: isoform j
- UniProtKB: Q5JWT2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363450   ⟸   NM_001376521
- Peptide Label: isoform i
- UniProtKB: Q5JWT2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363448   ⟸   NM_001376519
- Peptide Label: isoform g
- UniProtKB: Q5JWT2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363449   ⟸   NM_001376520
- Peptide Label: isoform h
- UniProtKB: Q5JWT2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363446   ⟸   NM_001376517
- Peptide Label: isoform e
- UniProtKB: Q5JWT2 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000445072   ⟸   ENST00000539158
RefSeq Acc Id: ENSP00000346588   ⟸   ENST00000354577
RefSeq Acc Id: ENSP00000357047   ⟸   ENST00000368068
RefSeq Acc Id: ENSP00000357039   ⟸   ENST00000368060
RefSeq Acc Id: ENSP00000357037   ⟸   ENST00000368058
RefSeq Acc Id: ENSP00000357032   ⟸   ENST00000368053
RefSeq Acc Id: XP_047275521   ⟸   XM_047419565
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054212803   ⟸   XM_054356828
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054212804   ⟸   XM_054356829
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054212805   ⟸   XM_054356830
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9ULK4-F1-model_v2 AlphaFold Q9ULK4 1-1368 view protein structure

Promoters
RGD ID:7209153
Promoter ID:EPDNEW_H10322
Type:initiation region
Name:MED23_1
Description:mediator complex subunit 23
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386131,628,226 - 131,628,286EPDNEW
RGD ID:6804024
Promoter ID:HG_KWN:55017
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000354577,   ENST00000368053,   ENST00000368058,   ENST00000368060,   NM_015979,   OTTHUMT00000042215,   OTTHUMT00000042220,   UC003QCT.1,   UC003QCU.2,   UC010KFN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366131,990,789 - 131,991,289 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2372 AgrOrtholog
COSMIC MED23 COSMIC
Ensembl Genes ENSG00000112282 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000354577 ENTREZGENE
  ENST00000354577.8 UniProtKB/Swiss-Prot
  ENST00000368053 ENTREZGENE
  ENST00000368053.8 UniProtKB/Swiss-Prot
  ENST00000368058 ENTREZGENE
  ENST00000368058.5 UniProtKB/TrEMBL
  ENST00000368060 ENTREZGENE
  ENST00000368060.7 UniProtKB/Swiss-Prot
  ENST00000368068 ENTREZGENE
  ENST00000368068.8 UniProtKB/Swiss-Prot
  ENST00000539158.1 UniProtKB/Swiss-Prot
GTEx ENSG00000112282 GTEx
HGNC ID HGNC:2372 ENTREZGENE
Human Proteome Map MED23 Human Proteome Map
InterPro Mediator_Med23 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9439 UniProtKB/Swiss-Prot
NCBI Gene 9439 ENTREZGENE
OMIM 605042 OMIM
PANTHER MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION SUBUNIT 23 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12691 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Med23 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162395499 PharmGKB
UniProt B9TX49_HUMAN UniProtKB/TrEMBL
  B9TX50_HUMAN UniProtKB/TrEMBL
  B9TX51_HUMAN UniProtKB/TrEMBL
  B9TX52_HUMAN UniProtKB/TrEMBL
  B9TX53_HUMAN UniProtKB/TrEMBL
  B9TX54_HUMAN UniProtKB/TrEMBL
  B9TX55 ENTREZGENE
  B9TX56_HUMAN UniProtKB/TrEMBL
  B9TX57_HUMAN UniProtKB/TrEMBL
  B9TX58_HUMAN UniProtKB/TrEMBL
  B9TX59_HUMAN UniProtKB/TrEMBL
  B9TX60_HUMAN UniProtKB/TrEMBL
  MED23_HUMAN UniProtKB/Swiss-Prot
  O95403 ENTREZGENE
  Q05DL5_HUMAN UniProtKB/TrEMBL
  Q5JWT2 ENTREZGENE, UniProtKB/TrEMBL
  Q5JWT3 ENTREZGENE
  Q5JWT4 ENTREZGENE
  Q6P9H6 ENTREZGENE
  Q9H0J2 ENTREZGENE
  Q9NTT9 ENTREZGENE
  Q9NTU0 ENTREZGENE
  Q9ULK4 ENTREZGENE
  Q9Y5P7 ENTREZGENE
  Q9Y667 ENTREZGENE
UniProt Secondary B9TX55 UniProtKB/Swiss-Prot
  O95403 UniProtKB/Swiss-Prot
  Q5JWT3 UniProtKB/Swiss-Prot
  Q5JWT4 UniProtKB/Swiss-Prot
  Q6P9H6 UniProtKB/Swiss-Prot
  Q9H0J2 UniProtKB/Swiss-Prot
  Q9NTT9 UniProtKB/Swiss-Prot
  Q9NTU0 UniProtKB/Swiss-Prot
  Q9Y5P7 UniProtKB/Swiss-Prot
  Q9Y667 UniProtKB/Swiss-Prot