ROGDI (rogdi atypical leucine zipper) - Rat Genome Database

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Gene: ROGDI (rogdi atypical leucine zipper) Homo sapiens
Analyze
Symbol: ROGDI
Name: rogdi atypical leucine zipper
RGD ID: 1603007
HGNC Page HGNC:29478
Description: Involved in brain development; neurogenesis; and odontogenesis of dentin-containing tooth. Located in nuclear envelope. Implicated in Kohlschutter-Tonz syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ22386; KTZS; leucine zipper domain protein; protein rogdi homolog; RAV2; ROGD1; rogdi homolog
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
GRCh38164,796,968 - 4,802,633 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,796,968 - 4,802,880 (-)EnsemblGRCh38hg38GRCh38
GRCh37164,846,969 - 4,852,634 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,786,970 - 4,792,675 (-)NCBINCBI36Build 36hg18NCBI36
Celera165,055,739 - 5,061,444 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef164,813,161 - 4,819,149 (-)NCBIHuRef
CHM1_1164,847,809 - 4,853,797 (-)NCBICHM1_1
T2T-CHM13v2.0164,826,450 - 4,832,187 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
5. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:11076863   PMID:11230166   PMID:11256614   PMID:12477932   PMID:14702039   PMID:15489336   PMID:16169070   PMID:16381901   PMID:17043677   PMID:21873635   PMID:22424600   PMID:22482807  
PMID:23086778   PMID:24630287   PMID:25565929   PMID:26186194   PMID:26673895   PMID:28514442   PMID:28638151   PMID:31091453   PMID:31413325   PMID:31586073   PMID:32296183   PMID:33961781  
PMID:34369648   PMID:35271311   PMID:36724073   PMID:37646740   PMID:38697112  


Genomics

Comparative Map Data
ROGDI
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38164,796,968 - 4,802,633 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,796,968 - 4,802,880 (-)EnsemblGRCh38hg38GRCh38
GRCh37164,846,969 - 4,852,634 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,786,970 - 4,792,675 (-)NCBINCBI36Build 36hg18NCBI36
Celera165,055,739 - 5,061,444 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef164,813,161 - 4,819,149 (-)NCBIHuRef
CHM1_1164,847,809 - 4,853,797 (-)NCBICHM1_1
T2T-CHM13v2.0164,826,450 - 4,832,187 (-)NCBIT2T-CHM13v2.0
Rogdi
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39164,826,593 - 4,831,438 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl164,826,594 - 4,831,417 (-)EnsemblGRCm39 Ensembl
GRCm38165,008,729 - 5,013,574 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl165,008,730 - 5,013,553 (-)EnsemblGRCm38mm10GRCm38
MGSCv37165,008,822 - 5,013,646 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36164,924,066 - 4,928,840 (-)NCBIMGSCv36mm8
Celera165,640,103 - 5,644,927 (-)NCBICelera
Cytogenetic Map16A1NCBI
cM Map162.49NCBI
Rogdi
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81011,074,288 - 11,078,907 (+)NCBIGRCr8
mRatBN7.21010,567,834 - 10,572,453 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1010,567,834 - 10,572,452 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1015,275,819 - 15,280,438 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01014,764,638 - 14,769,257 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01010,433,931 - 10,438,567 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01010,761,477 - 10,766,096 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1010,761,477 - 10,766,095 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0109,528,490 - 9,533,109 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41010,683,729 - 10,688,348 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera109,531,610 - 9,536,229 (+)NCBICelera
Cytogenetic Map10q12NCBI
Rogdi
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544212,694,197 - 12,700,181 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544212,694,197 - 12,700,181 (+)NCBIChiLan1.0ChiLan1.0
ROGDI
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2185,325,112 - 5,331,145 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1169,115,264 - 9,121,257 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0163,721,063 - 3,727,056 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1164,886,553 - 4,892,611 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl164,887,051 - 4,892,607 (-)Ensemblpanpan1.1panPan2
ROGDI
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1636,618,670 - 36,624,533 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl636,491,561 - 36,624,532 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha638,010,765 - 38,016,786 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0636,821,485 - 36,827,506 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl636,820,987 - 36,827,503 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1636,615,541 - 36,621,550 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0636,508,424 - 36,514,446 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0636,910,640 - 36,916,661 (+)NCBIUU_Cfam_GSD_1.0
Rogdi
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344106,910,628 - 106,916,187 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365304,753,751 - 4,761,695 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365304,756,069 - 4,761,484 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ROGDI
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl337,591,815 - 37,602,112 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1337,592,982 - 37,600,004 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2338,665,099 - 38,671,065 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ROGDI
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.154,466,954 - 4,472,967 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl54,466,824 - 4,472,780 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606826,186,555 - 26,192,558 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rogdi
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248242,650,116 - 2,655,716 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248242,649,694 - 2,655,728 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ROGDI
525 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_024589.3(ROGDI):c.467C>T (p.Ala156Val) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002564190]|not provided [RCV001507337] Chr16:4798633 [GRCh38]
Chr16:4848634 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.822+9G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000543626] Chr16:4797705 [GRCh38]
Chr16:4847706 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.229_230del (p.Leu77fs) microsatellite Amelocerebrohypohidrotic syndrome [RCV000024224] Chr16:4801292..4801293 [GRCh38]
Chr16:4851293..4851294 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.286C>T (p.Gln96Ter) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000024225] Chr16:4800548 [GRCh38]
Chr16:4850549 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.531+5G>C single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000024226]|not provided [RCV004719661] Chr16:4798564 [GRCh38]
Chr16:4848565 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_024589.3(ROGDI):c.532-2A>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000024227] Chr16:4798186 [GRCh38]
Chr16:4848187 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.469C>T (p.Arg157Ter) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000024228] Chr16:4798631 [GRCh38]
Chr16:4848632 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.507del (p.Glu170fs) deletion Amelocerebrohypohidrotic syndrome [RCV000034351]|not provided [RCV001091534] Chr16:4798593 [GRCh38]
Chr16:4848594 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.45+37_46-30del microsatellite Amelocerebrohypohidrotic syndrome [RCV000034352] Chr16:4802483..4802490 [GRCh38]
Chr16:4852484..4852491 [GRCh37]
Chr16:16p13.3		 pathogenic|benign
NM_024589.3(ROGDI):c.45+9_45+20del deletion Amelocerebrohypohidrotic syndrome [RCV000034353] Chr16:4802507..4802518 [GRCh38]
Chr16:4852508..4852519 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024589.3(ROGDI):c.555G>C (p.Pro185=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000545592]|not provided [RCV000992758] Chr16:4798161 [GRCh38]
Chr16:4848162 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_024589.3(ROGDI):c.441C>T (p.Asp147=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000527041] Chr16:4798659 [GRCh38]
Chr16:4848660 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.530C>T (p.Thr177Met) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000552286] Chr16:4798570 [GRCh38]
Chr16:4848571 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.1A>G (p.Met1Val) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001348234] Chr16:4802571 [GRCh38]
Chr16:4852572 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.546T>C (p.Pro182=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001494356] Chr16:4798170 [GRCh38]
Chr16:4848171 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh38/hg38 16p13.3(chr16:4490463-4815780)x1 copy number loss See cases [RCV000051115] Chr16:4490463..4815780 [GRCh38]
Chr16:4540464..4865781 [GRCh37]
Chr16:4480465..4805782 [NCBI36]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 copy number loss See cases [RCV000053270] Chr16:2850734..7110697 [GRCh38]
Chr16:2900735..7160698 [GRCh37]
Chr16:2840736..7100699 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:4536131-10852466)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|See cases [RCV000053274] Chr16:4536131..10852466 [GRCh38]
Chr16:4586132..10946323 [GRCh37]
Chr16:4526133..10853824 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
NM_024589.3(ROGDI):c.414G>A (p.Thr138=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000405355]|not provided [RCV000712938]|not specified [RCV000118189] Chr16:4799704 [GRCh38]
Chr16:4849705 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024589.3(ROGDI):c.215A>G (p.Lys72Arg) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001303709] Chr16:4801307 [GRCh38]
Chr16:4851308 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
NM_024589.3(ROGDI):c.783C>T (p.Phe261=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000232912]|ROGDI-related disorder [RCV003930000]|not provided [RCV001706274] Chr16:4797753 [GRCh38]
Chr16:4847754 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024589.3(ROGDI):c.243C>T (p.Ala81=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000231308]|ROGDI-related disorder [RCV003907893] Chr16:4801279 [GRCh38]
Chr16:4851280 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024589.3(ROGDI):c.319C>G (p.Gln107Glu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000625908] Chr16:4800515 [GRCh38]
Chr16:4850516 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.393C>G (p.Asp131Glu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000307121]|not provided [RCV000712937]|not specified [RCV000248867] Chr16:4799725 [GRCh38]
Chr16:4849726 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024589.3(ROGDI):c.433-15C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000342090]|not specified [RCV000245010] Chr16:4798682 [GRCh38]
Chr16:4848683 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_024589.3(ROGDI):c.646-5C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000316306]|not provided [RCV000712941]|not specified [RCV000249977] Chr16:4797992 [GRCh38]
Chr16:4847993 [GRCh37]
Chr16:16p13.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024589.2(ROGDI):c.-338C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000266297] Chr16:4802909 [GRCh38]
Chr16:4852910 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.*347G>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000303958]|not provided [RCV004703697] Chr16:4797113 [GRCh38]
Chr16:4847114 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_024589.3(ROGDI):c.*270T>C single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000269107] Chr16:4797190 [GRCh38]
Chr16:4847191 [GRCh37]
Chr16:16p13.3		 benign|uncertain significance
NM_024589.3(ROGDI):c.822+14G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000274798] Chr16:4797700 [GRCh38]
Chr16:4847701 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_024589.3(ROGDI):c.696C>T (p.Phe232=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000276145]|not provided [RCV000712942] Chr16:4797840 [GRCh38]
Chr16:4847841 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024589.2(ROGDI):c.-202delG deletion Amelocerebrohypohidrotic syndrome [RCV000260290] Chr16:4802769 [GRCh38]
Chr16:4852770 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.567G>A (p.Leu189=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000280974]|not provided [RCV000712940] Chr16:4798149 [GRCh38]
Chr16:4848150 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024589.2(ROGDI):c.-320C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000320049]|not provided [RCV001672524] Chr16:4802891 [GRCh38]
Chr16:4852892 [GRCh37]
Chr16:16p13.3		 benign
NM_024589.2(ROGDI):c.-74A>C single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000276978] Chr16:4802645 [GRCh38]
Chr16:4852646 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.175G>A (p.Glu59Lys) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000395002] Chr16:4801528 [GRCh38]
Chr16:4851529 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_024589.3(ROGDI):c.625C>G (p.Leu209Val) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000375529]|ROGDI-related disorder [RCV003922347]|not provided [RCV001507336] Chr16:4798091 [GRCh38]
Chr16:4848092 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024589.3(ROGDI):c.522C>T (p.Ser174=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000376843]|ROGDI-related disorder [RCV003922348]|not provided [RCV000712939] Chr16:4798578 [GRCh38]
Chr16:4848579 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024589.2(ROGDI):c.-131C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000354088] Chr16:4802702 [GRCh38]
Chr16:4852703 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.*454G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000403453] Chr16:4797006 [GRCh38]
Chr16:4847007 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.*112C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000364918] Chr16:4797348 [GRCh38]
Chr16:4847349 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.*144G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000310283]|not provided [RCV001642993] Chr16:4797316 [GRCh38]
Chr16:4847317 [GRCh37]
Chr16:16p13.3		 benign
NM_024589.2(ROGDI):c.-379T>C single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000380402] Chr16:4802950 [GRCh38]
Chr16:4852951 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.118-13C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000312248]|not provided [RCV004705340] Chr16:4801598 [GRCh38]
Chr16:4851599 [GRCh37]
Chr16:16p13.3		 benign|likely benign|uncertain significance
NM_024589.3(ROGDI):c.*380G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000357609]|not provided [RCV004703696] Chr16:4797080 [GRCh38]
Chr16:4847081 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.*355G>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000397576] Chr16:4797105 [GRCh38]
Chr16:4847106 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.2(ROGDI):c.-89G>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000313231] Chr16:4802660 [GRCh38]
Chr16:4852661 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.532-4G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000340704]|not provided [RCV001532277] Chr16:4798188 [GRCh38]
Chr16:4848189 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024589.3(ROGDI):c.*292C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000363794]|not provided [RCV004715083] Chr16:4797168 [GRCh38]
Chr16:4847169 [GRCh37]
Chr16:16p13.3		 benign
NM_024589.3(ROGDI):c.713G>A (p.Arg238His) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000389190]|ROGDI-related disorder [RCV003922346]|not provided [RCV000427626]|not specified [RCV001702424] Chr16:4797823 [GRCh38]
Chr16:4847824 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024589.3(ROGDI):c.*451C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000302852] Chr16:4797009 [GRCh38]
Chr16:4847010 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.2(ROGDI):c.-69C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000366884] Chr16:4802640 [GRCh38]
Chr16:4852641 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.2(ROGDI):c.-342C>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000321129] Chr16:4802913 [GRCh38]
Chr16:4852914 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.436A>T (p.Met146Leu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000286978] Chr16:4798664 [GRCh38]
Chr16:4848665 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.2(ROGDI):c.-325G>C single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000374845] Chr16:4802896 [GRCh38]
Chr16:4852897 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.117+9C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000526624]|ROGDI-related disorder [RCV003962490] Chr16:4802373 [GRCh38]
Chr16:4852374 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.819C>G (p.Asp273Glu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000531148] Chr16:4797717 [GRCh38]
Chr16:4847718 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.334C>T (p.Gln112Ter) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001213867]|not provided [RCV000598791] Chr16:4800500 [GRCh38]
Chr16:4850501 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.344A>G (p.Asp115Gly) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000527819] Chr16:4799774 [GRCh38]
Chr16:4849775 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.378G>C (p.Leu126=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000551835]|not provided [RCV003424102] Chr16:4799740 [GRCh38]
Chr16:4849741 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_024589.3(ROGDI):c.417C>T (p.Gly139=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000555297]|ROGDI-related disorder [RCV003935424]|not provided [RCV003419938] Chr16:4799701 [GRCh38]
Chr16:4849702 [GRCh37]
Chr16:16p13.3		 benign
NC_000016.10:g.(?_3727698)_(4802591_?)del deletion Rubinstein-Taybi syndrome [RCV000813975] Chr16:3727698..4802591 [GRCh38]
Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.517G>A (p.Ala173Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001231213]|Inborn genetic diseases [RCV004659019]|not provided [RCV000415778] Chr16:4798583 [GRCh38]
Chr16:4848584 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:4740929-4950995)x1 copy number loss See cases [RCV000446335] Chr16:4740929..4950995 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
NM_024589.3(ROGDI):c.578A>C (p.Tyr193Ser) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000553509] Chr16:4798138 [GRCh38]
Chr16:4848139 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:4541805-5813911)x3 copy number gain See cases [RCV000448804] Chr16:4541805..5813911 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.397A>G (p.Ser133Gly) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000472093]|Inborn genetic diseases [RCV004022809] Chr16:4799721 [GRCh38]
Chr16:4849722 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.118-2A>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000471198] Chr16:4801587 [GRCh38]
Chr16:4851588 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_024589.3(ROGDI):c.78G>A (p.Glu26=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000475052] Chr16:4802421 [GRCh38]
Chr16:4852422 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.822+8C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000475111]|ROGDI-related disorder [RCV003970349]|not provided [RCV004808731] Chr16:4797706 [GRCh38]
Chr16:4847707 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024589.3(ROGDI):c.117+10C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001082742]|not provided [RCV000712936] Chr16:4802372 [GRCh38]
Chr16:4852373 [GRCh37]
Chr16:16p13.3		 benign
NM_024589.3(ROGDI):c.489C>T (p.Pro163=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000468192]|ROGDI-related disorder [RCV003902708]|not provided [RCV003424038] Chr16:4798611 [GRCh38]
Chr16:4848612 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_024589.3(ROGDI):c.447G>C (p.Val149=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000461402] Chr16:4798653 [GRCh38]
Chr16:4848654 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.117+10C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001080293]|not provided [RCV000514543] Chr16:4802372 [GRCh38]
Chr16:4852373 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_024589.3(ROGDI):c.786C>T (p.Thr262=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000465711]|not provided [RCV004705613] Chr16:4797750 [GRCh38]
Chr16:4847751 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.516C>T (p.Ala172=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000469306]|not provided [RCV004704014] Chr16:4798584 [GRCh38]
Chr16:4848585 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.823-10C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000473154] Chr16:4797511 [GRCh38]
Chr16:4847512 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_024589.3(ROGDI):c.347C>G (p.Ala116Gly) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000462625] Chr16:4799771 [GRCh38]
Chr16:4849772 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.46-5C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000466408] Chr16:4802458 [GRCh38]
Chr16:4852459 [GRCh37]
Chr16:16p13.3		 likely benign
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_024589.3(ROGDI):c.348C>T (p.Ala116=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000538279]|ROGDI-related disorder [RCV003905358] Chr16:4799770 [GRCh38]
Chr16:4849771 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.49G>A (p.Glu17Lys) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000636826] Chr16:4802450 [GRCh38]
Chr16:4852451 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.197G>A (p.Cys66Tyr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000636827] Chr16:4801506 [GRCh38]
Chr16:4851507 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.838A>G (p.Ser280Gly) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000636828] Chr16:4797486 [GRCh38]
Chr16:4847487 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.317A>G (p.Lys106Arg) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000636830] Chr16:4800517 [GRCh38]
Chr16:4850518 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.665dup (p.Ala223fs) duplication Amelocerebrohypohidrotic syndrome [RCV000636834] Chr16:4797967..4797968 [GRCh38]
Chr16:4847968..4847969 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.389G>A (p.Arg130Gln) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000636835]|Inborn genetic diseases [RCV004025482] Chr16:4799729 [GRCh38]
Chr16:4849730 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.388C>T (p.Arg130Trp) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000636836] Chr16:4799730 [GRCh38]
Chr16:4849731 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.678T>C (p.His226=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001513533] Chr16:4797955 [GRCh38]
Chr16:4847956 [GRCh37]
Chr16:16p13.3		 benign
NM_024589.3(ROGDI):c.851A>G (p.Tyr284Cys) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000560854] Chr16:4797473 [GRCh38]
Chr16:4847474 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.612C>T (p.Tyr204=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000636840] Chr16:4798104 [GRCh38]
Chr16:4848105 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.695+7A>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000559509] Chr16:4797931 [GRCh38]
Chr16:4847932 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_024589.3(ROGDI):c.506_507dup (p.Glu170fs) duplication Amelocerebrohypohidrotic syndrome [RCV000540436] Chr16:4798592..4798593 [GRCh38]
Chr16:4848593..4848594 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_024589.3(ROGDI):c.340C>T (p.Gln114Ter) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000534528] Chr16:4799778 [GRCh38]
Chr16:4849779 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1 copy number loss See cases [RCV000511703] Chr16:3146027..6362229 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.615G>T (p.Gln205His) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000636829] Chr16:4798101 [GRCh38]
Chr16:4848102 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.661G>A (p.Gly221Arg) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000636831] Chr16:4797972 [GRCh38]
Chr16:4847973 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.336+6C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000636832] Chr16:4800492 [GRCh38]
Chr16:4850493 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.113T>G (p.Leu38Arg) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000636833] Chr16:4802386 [GRCh38]
Chr16:4852387 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.696-8G>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000636839] Chr16:4797848 [GRCh38]
Chr16:4847849 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_024589.3(ROGDI):c.810G>A (p.Gln270=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000636838]|ROGDI-related disorder [RCV003905713]|not provided [RCV003424210] Chr16:4797726 [GRCh38]
Chr16:4847727 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.117+1G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000685237] Chr16:4802381 [GRCh38]
Chr16:4852382 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_024589.3(ROGDI):c.349A>G (p.Arg117Gly) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000685121] Chr16:4799769 [GRCh38]
Chr16:4849770 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.485C>A (p.Thr162Asn) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000698447]|Inborn genetic diseases [RCV002533523] Chr16:4798615 [GRCh38]
Chr16:4848616 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
NM_024589.3(ROGDI):c.781T>C (p.Phe261Leu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000687911] Chr16:4797755 [GRCh38]
Chr16:4847756 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.427C>T (p.Leu143Phe) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000684969] Chr16:4799691 [GRCh38]
Chr16:4849692 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.207C>A (p.Asp69Glu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000701291] Chr16:4801315 [GRCh38]
Chr16:4851316 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.666C>T (p.Gly222=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000690215] Chr16:4797967 [GRCh38]
Chr16:4847968 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_024589.3(ROGDI):c.766G>A (p.Asp256Asn) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000687642] Chr16:4797770 [GRCh38]
Chr16:4847771 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.829G>A (p.Val277Met) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001366273]|Inborn genetic diseases [RCV003362924]|not provided [RCV000712943] Chr16:4797495 [GRCh38]
Chr16:4847496 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.(?_4797440)_(4802591_?)del deletion Amelocerebrohypohidrotic syndrome [RCV004581607] Chr16:4797440..4802591 [GRCh38]
Chr16:4847441..4852592 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.274C>A (p.Pro92Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000694063] Chr16:4800560 [GRCh38]
Chr16:4850561 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.541G>A (p.Ala181Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000684940] Chr16:4798175 [GRCh38]
Chr16:4848176 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.667G>T (p.Ala223Ser) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000706169] Chr16:4797966 [GRCh38]
Chr16:4847967 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.218G>C (p.Gly73Ala) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000703707] Chr16:4801304 [GRCh38]
Chr16:4851305 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.78G>T (p.Glu26Asp) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000689801] Chr16:4802421 [GRCh38]
Chr16:4852422 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.301G>A (p.Ala101Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000697822]|not provided [RCV004808848] Chr16:4800533 [GRCh38]
Chr16:4850534 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.584A>G (p.Asn195Ser) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000697892]|Inborn genetic diseases [RCV004026419]|not provided [RCV000992759] Chr16:4798132 [GRCh38]
Chr16:4848133 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.577T>C (p.Tyr193His) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000704578] Chr16:4798139 [GRCh38]
Chr16:4848140 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.569T>C (p.Val190Ala) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000695801] Chr16:4798147 [GRCh38]
Chr16:4848148 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.695+5G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000707712] Chr16:4797933 [GRCh38]
Chr16:4847934 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.574G>A (p.Val192Ile) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000688757]|Inborn genetic diseases [RCV004026304] Chr16:4798142 [GRCh38]
Chr16:4848143 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.724A>G (p.Ser242Gly) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000691070] Chr16:4797812 [GRCh38]
Chr16:4847813 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.578A>T (p.Tyr193Phe) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000696246] Chr16:4798138 [GRCh38]
Chr16:4848139 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.584A>T (p.Asn195Ile) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000696707] Chr16:4798132 [GRCh38]
Chr16:4848133 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.553C>T (p.Pro185Ser) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000768070] Chr16:4798163 [GRCh38]
Chr16:4848164 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_024589.3(ROGDI):c.828C>T (p.Ser276=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001442062]|not provided [RCV000762186] Chr16:4797496 [GRCh38]
Chr16:4847497 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_024589.3(ROGDI):c.531+76G>C single nucleotide variant not provided [RCV001707447] Chr16:4798493 [GRCh38]
Chr16:4848494 [GRCh37]
Chr16:16p13.3		 benign
NM_024589.3(ROGDI):c.410A>G (p.Lys137Arg) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001116550]|Inborn genetic diseases [RCV004659354] Chr16:4799708 [GRCh38]
Chr16:4849709 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_024589.3(ROGDI):c.669G>A (p.Ala223=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000902452]|not provided [RCV001815457] Chr16:4797964 [GRCh38]
Chr16:4847965 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.420T>C (p.Ala140=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001473686] Chr16:4799698 [GRCh38]
Chr16:4849699 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.423G>A (p.Glu141=) single nucleotide variant not provided [RCV000926912] Chr16:4799695 [GRCh38]
Chr16:4849696 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.256-7C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001404667] Chr16:4800585 [GRCh38]
Chr16:4850586 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.532-5C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000950903] Chr16:4798189 [GRCh38]
Chr16:4848190 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.795G>A (p.Leu265=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000920995] Chr16:4797741 [GRCh38]
Chr16:4847742 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_024589.3(ROGDI):c.207C>T (p.Asp69=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002064579] Chr16:4801315 [GRCh38]
Chr16:4851316 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.756C>G (p.Pro252=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000945827] Chr16:4797780 [GRCh38]
Chr16:4847781 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.4G>A (p.Ala2Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001058150]|Inborn genetic diseases [RCV003160470] Chr16:4802568 [GRCh38]
Chr16:4852569 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.531G>A (p.Thr177=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001058742]|ROGDI-related disorder [RCV004758141] Chr16:4798569 [GRCh38]
Chr16:4848570 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_024589.3(ROGDI):c.118-3C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001046780] Chr16:4801588 [GRCh38]
Chr16:4851589 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.392A>C (p.Asp131Ala) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001066570] Chr16:4799726 [GRCh38]
Chr16:4849727 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.548C>T (p.Ala183Val) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001072079] Chr16:4798168 [GRCh38]
Chr16:4848169 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.659C>G (p.Ala220Gly) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000791757] Chr16:4797974 [GRCh38]
Chr16:4847975 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.376C>T (p.Leu126=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001397623] Chr16:4799742 [GRCh38]
Chr16:4849743 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.714C>T (p.Arg238=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000872296] Chr16:4797822 [GRCh38]
Chr16:4847823 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.117+7A>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001452527] Chr16:4802375 [GRCh38]
Chr16:4852376 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.162G>C (p.Gly54=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001479663] Chr16:4801541 [GRCh38]
Chr16:4851542 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.573C>T (p.Asn191=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000959430] Chr16:4798143 [GRCh38]
Chr16:4848144 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.570C>T (p.Val190=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001442058] Chr16:4798146 [GRCh38]
Chr16:4848147 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.292C>T (p.Leu98=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001426088] Chr16:4800542 [GRCh38]
Chr16:4850543 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.27G>C (p.Ala9=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000882928] Chr16:4802545 [GRCh38]
Chr16:4852546 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.625C>T (p.Leu209=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000865228] Chr16:4798091 [GRCh38]
Chr16:4848092 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.21G>A (p.Ala7=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001404231] Chr16:4802551 [GRCh38]
Chr16:4852552 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.747C>T (p.Cys249=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000863831]|ROGDI-related disorder [RCV003928361] Chr16:4797789 [GRCh38]
Chr16:4847790 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.508G>A (p.Glu170Lys) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000819017]|Inborn genetic diseases [RCV004028998] Chr16:4798592 [GRCh38]
Chr16:4848593 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.375C>T (p.Tyr125=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001496276] Chr16:4799743 [GRCh38]
Chr16:4849744 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.658G>T (p.Ala220Ser) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000797541] Chr16:4797975 [GRCh38]
Chr16:4847976 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.645+3G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000796668] Chr16:4798068 [GRCh38]
Chr16:4848069 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.661G>C (p.Gly221Arg) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000816401] Chr16:4797972 [GRCh38]
Chr16:4847973 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.811C>T (p.Leu271Phe) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000795363] Chr16:4797725 [GRCh38]
Chr16:4847726 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.336+3G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000803979]|Inborn genetic diseases [RCV003166234] Chr16:4800495 [GRCh38]
Chr16:4850496 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_4847441)_(4852592_?)dup duplication Amelocerebrohypohidrotic syndrome [RCV000812675] Chr16:4797440..4802591 [GRCh38]
Chr16:4847441..4852592 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.787G>A (p.Val263Ile) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000812839]|Inborn genetic diseases [RCV004028781] Chr16:4797749 [GRCh38]
Chr16:4847750 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.530C>A (p.Thr177Lys) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000807179]|Inborn genetic diseases [RCV004659220] Chr16:4798570 [GRCh38]
Chr16:4848571 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.859T>C (p.Phe287Leu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000820964]|Inborn genetic diseases [RCV002537485] Chr16:4797465 [GRCh38]
Chr16:4847466 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.645+4A>C single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000824448] Chr16:4798067 [GRCh38]
Chr16:4848068 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.652C>T (p.Arg218Cys) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000805803] Chr16:4797981 [GRCh38]
Chr16:4847982 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.805C>T (p.Gln269Ter) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000815196] Chr16:4797731 [GRCh38]
Chr16:4847732 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.337-7C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000794967] Chr16:4799788 [GRCh38]
Chr16:4849789 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.260T>G (p.Val87Gly) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000811779] Chr16:4800574 [GRCh38]
Chr16:4850575 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.645+2T>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000810444]|not provided [RCV001824380] Chr16:4798069 [GRCh38]
Chr16:4848070 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_024589.3(ROGDI):c.*246G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001117891] Chr16:4797214 [GRCh38]
Chr16:4847215 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.*208G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001117892] Chr16:4797252 [GRCh38]
Chr16:4847253 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.391G>C (p.Asp131His) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001116551] Chr16:4799727 [GRCh38]
Chr16:4849728 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.302_308dup (p.Glu104fs) duplication Amelocerebrohypohidrotic syndrome [RCV000810536] Chr16:4800525..4800526 [GRCh38]
Chr16:4850526..4850527 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.769G>A (p.Ala257Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000808575]|Inborn genetic diseases [RCV002537292] Chr16:4797767 [GRCh38]
Chr16:4847768 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.623C>T (p.Ala208Val) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000813472] Chr16:4798093 [GRCh38]
Chr16:4848094 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.137C>G (p.Thr46Ser) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000814241] Chr16:4801566 [GRCh38]
Chr16:4851567 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.308G>A (p.Arg103Gln) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000823672]|Inborn genetic diseases [RCV004029153] Chr16:4800526 [GRCh38]
Chr16:4850527 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.432+13C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001116549] Chr16:4799673 [GRCh38]
Chr16:4849674 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_024589.3(ROGDI):c.*24C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001119444] Chr16:4797436 [GRCh38]
Chr16:4847437 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.753C>T (p.Ile251=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001119446] Chr16:4797783 [GRCh38]
Chr16:4847784 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_024589.3(ROGDI):c.540C>T (p.Phe180=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001392711] Chr16:4798176 [GRCh38]
Chr16:4848177 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.432+1dup duplication Amelocerebrohypohidrotic syndrome [RCV001197101] Chr16:4799684..4799685 [GRCh38]
Chr16:4849685..4849686 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_024589.3(ROGDI):c.46G>C (p.Glu16Gln) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001220921] Chr16:4802453 [GRCh38]
Chr16:4852454 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.313G>A (p.Asp105Asn) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001222828] Chr16:4800521 [GRCh38]
Chr16:4850522 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.34C>T (p.Arg12Trp) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001206531]|Inborn genetic diseases [RCV002561229] Chr16:4802538 [GRCh38]
Chr16:4852539 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.178A>G (p.Asn60Asp) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001223722] Chr16:4801525 [GRCh38]
Chr16:4851526 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.329_336+5del deletion Amelocerebrohypohidrotic syndrome [RCV001242289] Chr16:4800493..4800505 [GRCh38]
Chr16:4850494..4850506 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_024589.3(ROGDI):c.423G>C (p.Glu141Asp) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001232599] Chr16:4799695 [GRCh38]
Chr16:4849696 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.727C>G (p.His243Asp) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001197100] Chr16:4797809 [GRCh38]
Chr16:4847810 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3 copy number gain not provided [RCV000846351] Chr16:3731117..5325699 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.829G>T (p.Val277Leu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001858831]|not provided [RCV000996199] Chr16:4797495 [GRCh38]
Chr16:4847496 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.823-22A>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001796627]|not provided [RCV001640003] Chr16:4797523 [GRCh38]
Chr16:4847524 [GRCh37]
Chr16:16p13.3		 benign
NM_024589.3(ROGDI):c.513C>T (p.Ile171=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV000955117] Chr16:4798587 [GRCh38]
Chr16:4848588 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.858C>G (p.Pro286=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001454678] Chr16:4797466 [GRCh38]
Chr16:4847467 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.813C>A (p.Leu271=) single nucleotide variant not provided [RCV000930752] Chr16:4797723 [GRCh38]
Chr16:4847724 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.819C>T (p.Asp273=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001438489] Chr16:4797717 [GRCh38]
Chr16:4847718 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.507C>T (p.Pro169=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001121441]|not provided [RCV003425937] Chr16:4798593 [GRCh38]
Chr16:4848594 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024589.3(ROGDI):c.154A>G (p.Thr52Ala) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001244334] Chr16:4801549 [GRCh38]
Chr16:4851550 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.117+6_117+7delinsAT indel Amelocerebrohypohidrotic syndrome [RCV001231915] Chr16:4802375..4802376 [GRCh38]
Chr16:4852376..4852377 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.658G>A (p.Ala220Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001245171]|not provided [RCV004692320] Chr16:4797975 [GRCh38]
Chr16:4847976 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.691A>G (p.Met231Val) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001056123]|Inborn genetic diseases [RCV002553362] Chr16:4797942 [GRCh38]
Chr16:4847943 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.20C>A (p.Ala7Glu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001060653]|Inborn genetic diseases [RCV002553887] Chr16:4802552 [GRCh38]
Chr16:4852553 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.201-1G>C single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001234864] Chr16:4801322 [GRCh38]
Chr16:4851323 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_024589.3(ROGDI):c.29C>G (p.Ala10Gly) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001196717] Chr16:4802543 [GRCh38]
Chr16:4852544 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.10:g.(?_3727698)_(4802591_?)dup duplication Amelocerebrohypohidrotic syndrome [RCV001031942] Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NC_000016.10:g.4803091T>C single nucleotide variant not provided [RCV001658609] Chr16:4803091 [GRCh38]
Chr16:4853092 [GRCh37]
Chr16:16p13.3		 benign
NM_024589.3(ROGDI):c.755C>G (p.Pro252Arg) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV004799477] Chr16:4797781 [GRCh38]
Chr16:4847782 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.433-141_433-140del deletion not provided [RCV001665955] Chr16:4798807..4798808 [GRCh38]
Chr16:4848808..4848809 [GRCh37]
Chr16:16p13.3		 benign
NM_024589.3(ROGDI):c.695+30A>G single nucleotide variant not provided [RCV001644270] Chr16:4797908 [GRCh38]
Chr16:4847909 [GRCh37]
Chr16:16p13.3		 benign
NM_024589.3(ROGDI):c.697G>A (p.Glu233Lys) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001050485]|Inborn genetic diseases [RCV002553728] Chr16:4797839 [GRCh38]
Chr16:4847840 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.695T>C (p.Phe232Ser) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001219742] Chr16:4797938 [GRCh38]
Chr16:4847939 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.514G>A (p.Ala172Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001036395]|not provided [RCV002264146]|not specified [RCV004800663] Chr16:4798586 [GRCh38]
Chr16:4848587 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_024589.3(ROGDI):c.715_718del (p.Leu239fs) deletion Amelocerebrohypohidrotic syndrome [RCV001217732] Chr16:4797818..4797821 [GRCh38]
Chr16:4847819..4847822 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.117+1G>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001218839] Chr16:4802381 [GRCh38]
Chr16:4852382 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_024589.3(ROGDI):c.*44C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001117894] Chr16:4797416 [GRCh38]
Chr16:4847417 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.190G>A (p.Gly64Ser) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001047983] Chr16:4801513 [GRCh38]
Chr16:4851514 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.823-15C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001119445] Chr16:4797516 [GRCh38]
Chr16:4847517 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_024589.3(ROGDI):c.245T>A (p.Leu82His) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001203416] Chr16:4801277 [GRCh38]
Chr16:4851278 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.470G>A (p.Arg157Gln) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001059172] Chr16:4798630 [GRCh38]
Chr16:4848631 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.2(ROGDI):c.-127C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001119529] Chr16:4802698 [GRCh38]
Chr16:4852699 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.2(ROGDI):c.-181G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001119530] Chr16:4802752 [GRCh38]
Chr16:4852753 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.85G>A (p.Ala29Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001064760]|Inborn genetic diseases [RCV002555833] Chr16:4802414 [GRCh38]
Chr16:4852415 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.712C>T (p.Arg238Cys) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001215157] Chr16:4797824 [GRCh38]
Chr16:4847825 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.46-4G>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001219505] Chr16:4802457 [GRCh38]
Chr16:4852458 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_024589.3(ROGDI):c.725G>C (p.Ser242Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001071813]|not provided [RCV001507335] Chr16:4797811 [GRCh38]
Chr16:4847812 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.*298G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001116435] Chr16:4797162 [GRCh38]
Chr16:4847163 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.775_795dup (p.Val259_Leu265dup) duplication Amelocerebrohypohidrotic syndrome [RCV001203417] Chr16:4797740..4797741 [GRCh38]
Chr16:4847741..4847742 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.705C>A (p.Gly235=) single nucleotide variant not provided [RCV001172096] Chr16:4797831 [GRCh38]
Chr16:4847832 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.*54C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001117893] Chr16:4797406 [GRCh38]
Chr16:4847407 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.2(ROGDI):c.-68G>C single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001118000] Chr16:4802639 [GRCh38]
Chr16:4852640 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.523G>A (p.Gly175Ser) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001054610]|Inborn genetic diseases [RCV004671198] Chr16:4798577 [GRCh38]
Chr16:4848578 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.337-2A>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002001605] Chr16:4799783 [GRCh38]
Chr16:4849784 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_024589.3(ROGDI):c.605C>G (p.Thr202Arg) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001231648] Chr16:4798111 [GRCh38]
Chr16:4848112 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.63G>C (p.Trp21Cys) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001349802] Chr16:4802436 [GRCh38]
Chr16:4852437 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
NM_024589.3(ROGDI):c.11T>A (p.Val4Glu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001342146] Chr16:4802561 [GRCh38]
Chr16:4852562 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.265C>A (p.Leu89Met) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001319427] Chr16:4800569 [GRCh38]
Chr16:4850570 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.254C>T (p.Ala85Val) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001334204] Chr16:4801268 [GRCh38]
Chr16:4851269 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.590A>G (p.Asn197Ser) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001326730] Chr16:4798126 [GRCh38]
Chr16:4848127 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.424G>T (p.Val142Phe) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001351564] Chr16:4799694 [GRCh38]
Chr16:4849695 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.856C>G (p.Pro286Ala) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001337439] Chr16:4797468 [GRCh38]
Chr16:4847469 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.186C>G (p.Ile62Met) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001341254] Chr16:4801517 [GRCh38]
Chr16:4851518 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.748G>C (p.Val250Leu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001361639]|not provided [RCV001762621] Chr16:4797788 [GRCh38]
Chr16:4847789 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_3777699)_(4852592_?)dup duplication Kohlschutter's syndrome [RCV001305610] Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.2T>C (p.Met1Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001316726] Chr16:4802570 [GRCh38]
Chr16:4852571 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.389G>C (p.Arg130Pro) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001339081] Chr16:4799729 [GRCh38]
Chr16:4849730 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.620A>G (p.His207Arg) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001359509] Chr16:4798096 [GRCh38]
Chr16:4848097 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.558C>T (p.Ser186=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001421937]|ROGDI-related disorder [RCV003946102] Chr16:4798158 [GRCh38]
Chr16:4848159 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.327G>T (p.Lys109Asn) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001362762] Chr16:4800507 [GRCh38]
Chr16:4850508 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.793C>A (p.Leu265Met) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001303929]|Inborn genetic diseases [RCV004036296] Chr16:4797743 [GRCh38]
Chr16:4847744 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.559G>A (p.Asp187Asn) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001345713]|Inborn genetic diseases [RCV004036465] Chr16:4798157 [GRCh38]
Chr16:4848158 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.318G>C (p.Lys106Asn) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001371118] Chr16:4800516 [GRCh38]
Chr16:4850517 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.374A>C (p.Tyr125Ser) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001323930] Chr16:4799744 [GRCh38]
Chr16:4849745 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.302C>G (p.Ala101Gly) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001369523] Chr16:4800532 [GRCh38]
Chr16:4850533 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.151G>A (p.Gly51Ser) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001316573] Chr16:4801552 [GRCh38]
Chr16:4851553 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.631C>A (p.Pro211Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001298065] Chr16:4798085 [GRCh38]
Chr16:4848086 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.599G>T (p.Cys200Phe) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001324141] Chr16:4798117 [GRCh38]
Chr16:4848118 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.836C>T (p.Ser279Phe) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001346191] Chr16:4797488 [GRCh38]
Chr16:4847489 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.692T>C (p.Met231Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001347281] Chr16:4797941 [GRCh38]
Chr16:4847942 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.433-7C>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001342687] Chr16:4798674 [GRCh38]
Chr16:4848675 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_024589.3(ROGDI):c.533G>T (p.Arg178Leu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001345220]|not provided [RCV002291299] Chr16:4798183 [GRCh38]
Chr16:4848184 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.667G>A (p.Ala223Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001352410]|Inborn genetic diseases [RCV004656554] Chr16:4797966 [GRCh38]
Chr16:4847967 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.68T>C (p.Leu23Pro) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001297684]|not provided [RCV004762056] Chr16:4802431 [GRCh38]
Chr16:4852432 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.35G>T (p.Arg12Leu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001363866] Chr16:4802537 [GRCh38]
Chr16:4852538 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.46-5C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001364350] Chr16:4802458 [GRCh38]
Chr16:4852459 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.794T>G (p.Leu265Arg) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001371041] Chr16:4797742 [GRCh38]
Chr16:4847743 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.202A>C (p.Thr68Pro) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001326139] Chr16:4801320 [GRCh38]
Chr16:4851321 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.117G>A (p.Lys39=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001340059] Chr16:4802382 [GRCh38]
Chr16:4852383 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.734A>G (p.His245Arg) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001370964] Chr16:4797802 [GRCh38]
Chr16:4847803 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.25G>A (p.Ala9Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001360350] Chr16:4802547 [GRCh38]
Chr16:4852548 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.86C>T (p.Ala29Val) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001325080] Chr16:4802413 [GRCh38]
Chr16:4852414 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.117G>T (p.Lys39Asn) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001270739] Chr16:4802382 [GRCh38]
Chr16:4852383 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.588C>T (p.Leu196=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001412530] Chr16:4798128 [GRCh38]
Chr16:4848129 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.186C>T (p.Ile62=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001394815] Chr16:4801517 [GRCh38]
Chr16:4851518 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.76G>C (p.Glu26Gln) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001296425] Chr16:4802423 [GRCh38]
Chr16:4852424 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.88G>T (p.Val30Leu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001338940] Chr16:4802411 [GRCh38]
Chr16:4852412 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.825C>G (p.Ile275Met) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001372162] Chr16:4797499 [GRCh38]
Chr16:4847500 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.465A>C (p.Arg155Ser) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001308530] Chr16:4798635 [GRCh38]
Chr16:4848636 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.118-10T>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001365985] Chr16:4801595 [GRCh38]
Chr16:4851596 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.267G>A (p.Leu89=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001478408] Chr16:4800567 [GRCh38]
Chr16:4850568 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.675G>C (p.Leu225=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001499921] Chr16:4797958 [GRCh38]
Chr16:4847959 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.66G>A (p.Leu22=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001478833]|not provided [RCV003426139] Chr16:4802433 [GRCh38]
Chr16:4852434 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.532-7C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001400077] Chr16:4798191 [GRCh38]
Chr16:4848192 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.561C>T (p.Asp187=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001470996] Chr16:4798155 [GRCh38]
Chr16:4848156 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.118-9G>C single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001439207] Chr16:4801594 [GRCh38]
Chr16:4851595 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.336+8C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001471320] Chr16:4800490 [GRCh38]
Chr16:4850491 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.256-4T>C single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001466498] Chr16:4800582 [GRCh38]
Chr16:4850583 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.165C>G (p.Pro55=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001472679] Chr16:4801538 [GRCh38]
Chr16:4851539 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.46-6C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001485032] Chr16:4802459 [GRCh38]
Chr16:4852460 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.696-5C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001411997] Chr16:4797845 [GRCh38]
Chr16:4847846 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.741G>T (p.Val247=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001411926] Chr16:4797795 [GRCh38]
Chr16:4847796 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.777C>T (p.Val259=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001448807] Chr16:4797759 [GRCh38]
Chr16:4847760 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.256-7C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001446442] Chr16:4800585 [GRCh38]
Chr16:4850586 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.714C>A (p.Arg238=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001405241] Chr16:4797822 [GRCh38]
Chr16:4847823 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.837C>A (p.Ser279=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001426820] Chr16:4797487 [GRCh38]
Chr16:4847488 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.60C>A (p.Arg20=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001410400] Chr16:4802439 [GRCh38]
Chr16:4852440 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.435G>A (p.Leu145=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001447537] Chr16:4798665 [GRCh38]
Chr16:4848666 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.774G>C (p.Leu258=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001429402] Chr16:4797762 [GRCh38]
Chr16:4847763 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.150C>T (p.Ser50=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001437940] Chr16:4801553 [GRCh38]
Chr16:4851554 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.229C>T (p.Leu77=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001505247] Chr16:4801293 [GRCh38]
Chr16:4851294 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.765C>T (p.Asn255=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001495234] Chr16:4797771 [GRCh38]
Chr16:4847772 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.10:g.4803100C>T single nucleotide variant not provided [RCV001675378] Chr16:4803100 [GRCh38]
Chr16:4853101 [GRCh37]
Chr16:16p13.3		 benign
NM_024589.3(ROGDI):c.348C>A (p.Ala116=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001499245] Chr16:4799770 [GRCh38]
Chr16:4849771 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.46-4G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001455020] Chr16:4802457 [GRCh38]
Chr16:4852458 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.786C>G (p.Thr262=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001510719] Chr16:4797750 [GRCh38]
Chr16:4847751 [GRCh37]
Chr16:16p13.3		 benign
NM_024589.3(ROGDI):c.102G>C (p.Leu34=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001486508] Chr16:4802397 [GRCh38]
Chr16:4852398 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.651C>T (p.Phe217=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001453336] Chr16:4797982 [GRCh38]
Chr16:4847983 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.402C>A (p.Tyr134Ter) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001380958] Chr16:4799716 [GRCh38]
Chr16:4849717 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.823-4G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001497676] Chr16:4797505 [GRCh38]
Chr16:4847506 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.652dup (p.Arg218fs) duplication Amelocerebrohypohidrotic syndrome [RCV001385744] Chr16:4797980..4797981 [GRCh38]
Chr16:4847981..4847982 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.453G>C (p.Leu151=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001400317] Chr16:4798647 [GRCh38]
Chr16:4848648 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.531+10C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001418266] Chr16:4798559 [GRCh38]
Chr16:4848560 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.276C>G (p.Pro92=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001466589] Chr16:4800558 [GRCh38]
Chr16:4850559 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.621T>C (p.His207=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001489174] Chr16:4798095 [GRCh38]
Chr16:4848096 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.768C>T (p.Asp256=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001424234] Chr16:4797768 [GRCh38]
Chr16:4847769 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.91T>C (p.Leu31=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001472237] Chr16:4802408 [GRCh38]
Chr16:4852409 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.413C>G (p.Thr138Arg) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001984809] Chr16:4799705 [GRCh38]
Chr16:4849706 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.797A>G (p.Gln266Arg) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001914647] Chr16:4797739 [GRCh38]
Chr16:4847740 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.337-16T>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001929400] Chr16:4799797 [GRCh38]
Chr16:4849798 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.194G>C (p.Ser65Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001873910] Chr16:4801509 [GRCh38]
Chr16:4851510 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.234G>T (p.Gln78His) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001988191] Chr16:4801288 [GRCh38]
Chr16:4851289 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.707C>G (p.Ser236Cys) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002002647] Chr16:4797829 [GRCh38]
Chr16:4847830 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.605C>T (p.Thr202Met) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001970837] Chr16:4798111 [GRCh38]
Chr16:4848112 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.19G>A (p.Ala7Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001970742] Chr16:4802553 [GRCh38]
Chr16:4852554 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.418G>A (p.Ala140Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001909613] Chr16:4799700 [GRCh38]
Chr16:4849701 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.503T>A (p.Leu168His) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001945084] Chr16:4798597 [GRCh38]
Chr16:4848598 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.356A>G (p.His119Arg) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002004965] Chr16:4799762 [GRCh38]
Chr16:4849763 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.581_593del (p.Ile194fs) deletion Amelocerebrohypohidrotic syndrome [RCV002002391] Chr16:4798123..4798135 [GRCh38]
Chr16:4848124..4848136 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.52G>T (p.Glu18Ter) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001890161] Chr16:4802447 [GRCh38]
Chr16:4852448 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:4541805-5813911) copy number gain not specified [RCV002052503] Chr16:4541805..5813911 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.730G>A (p.Val244Met) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002044538] Chr16:4797806 [GRCh38]
Chr16:4847807 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.829G>C (p.Val277Leu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001966730] Chr16:4797495 [GRCh38]
Chr16:4847496 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.836C>G (p.Ser279Cys) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002043771] Chr16:4797488 [GRCh38]
Chr16:4847489 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.117+5C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001911773] Chr16:4802377 [GRCh38]
Chr16:4852378 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.554C>G (p.Pro185Arg) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001947534] Chr16:4798162 [GRCh38]
Chr16:4848163 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.559G>C (p.Asp187His) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001947162] Chr16:4798157 [GRCh38]
Chr16:4848158 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.255+7_255+11dup duplication Amelocerebrohypohidrotic syndrome [RCV001891231] Chr16:4801255..4801256 [GRCh38]
Chr16:4851256..4851257 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.103C>T (p.Gln35Ter) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001931038] Chr16:4802396 [GRCh38]
Chr16:4852397 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_4847461)_(4852572_?)dup duplication Amelocerebrohypohidrotic syndrome [RCV001943196] Chr16:4847461..4852572 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.785C>G (p.Thr262Ser) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001924247] Chr16:4797751 [GRCh38]
Chr16:4847752 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.45+15C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001902335] Chr16:4802512 [GRCh38]
Chr16:4852513 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_024589.3(ROGDI):c.416G>A (p.Gly139Asp) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001961681] Chr16:4799702 [GRCh38]
Chr16:4849703 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.250C>T (p.Gln84Ter) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001941630] Chr16:4801272 [GRCh38]
Chr16:4851273 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.149C>G (p.Ser50Cys) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001887988] Chr16:4801554 [GRCh38]
Chr16:4851555 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.155C>T (p.Thr52Ile) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001995574] Chr16:4801548 [GRCh38]
Chr16:4851549 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.646-6C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001903818] Chr16:4797993 [GRCh38]
Chr16:4847994 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.580A>G (p.Ile194Val) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001977458] Chr16:4798136 [GRCh38]
Chr16:4848137 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.748G>A (p.Val250Met) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002051130] Chr16:4797788 [GRCh38]
Chr16:4847789 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.490G>A (p.Ala164Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001902323]|Inborn genetic diseases [RCV002550299] Chr16:4798610 [GRCh38]
Chr16:4848611 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.665G>A (p.Gly222Asp) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002049030] Chr16:4797968 [GRCh38]
Chr16:4847969 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.572A>C (p.Asn191Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001902416] Chr16:4798144 [GRCh38]
Chr16:4848145 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.432+17C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001999310] Chr16:4799669 [GRCh38]
Chr16:4849670 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_024589.3(ROGDI):c.646-6C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002033659] Chr16:4797993 [GRCh38]
Chr16:4847994 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.751A>G (p.Ile251Val) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001925678] Chr16:4797785 [GRCh38]
Chr16:4847786 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.46-14G>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001972779] Chr16:4802467 [GRCh38]
Chr16:4852468 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.740T>A (p.Val247Glu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001976727] Chr16:4797796 [GRCh38]
Chr16:4847797 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.616C>G (p.Leu206Val) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001922583] Chr16:4798100 [GRCh38]
Chr16:4848101 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.257A>T (p.Asp86Val) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002011858] Chr16:4800577 [GRCh38]
Chr16:4850578 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.117+5C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002018946] Chr16:4802377 [GRCh38]
Chr16:4852378 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.765C>G (p.Asn255Lys) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001997193] Chr16:4797771 [GRCh38]
Chr16:4847772 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.577_578delinsAG (p.Tyr193Ser) indel Amelocerebrohypohidrotic syndrome [RCV001938853] Chr16:4798138..4798139 [GRCh38]
Chr16:4848139..4848140 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.700T>G (p.Trp234Gly) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001886160] Chr16:4797836 [GRCh38]
Chr16:4847837 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.774G>A (p.Leu258=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002019279] Chr16:4797762 [GRCh38]
Chr16:4847763 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.742G>C (p.Glu248Gln) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002015131] Chr16:4797794 [GRCh38]
Chr16:4847795 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.336+5C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001975438] Chr16:4800493 [GRCh38]
Chr16:4850494 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.613C>T (p.Gln205Ter) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001960730] Chr16:4798103 [GRCh38]
Chr16:4848104 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.10:g.4802447CCT[2] microsatellite Amelocerebrohypohidrotic syndrome [RCV001907398] Chr16:4802445..4802447 [GRCh38]
Chr16:4852446..4852448 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.277C>T (p.Arg93Trp) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002035997]|Inborn genetic diseases [RCV004046179] Chr16:4800557 [GRCh38]
Chr16:4850558 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.433-6C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001961487] Chr16:4798673 [GRCh38]
Chr16:4848674 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.305T>C (p.Phe102Ser) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001980629] Chr16:4800529 [GRCh38]
Chr16:4850530 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.653G>A (p.Arg218His) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002018661] Chr16:4797980 [GRCh38]
Chr16:4847981 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.695+6T>C single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001993514] Chr16:4797932 [GRCh38]
Chr16:4847933 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.591C>G (p.Asn197Lys) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001902599] Chr16:4798125 [GRCh38]
Chr16:4848126 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.485C>T (p.Thr162Ile) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001901709] Chr16:4798615 [GRCh38]
Chr16:4848616 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.445G>C (p.Val149Leu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001957852] Chr16:4798655 [GRCh38]
Chr16:4848656 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.83A>C (p.His28Pro) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV001974285] Chr16:4802416 [GRCh38]
Chr16:4852417 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.300C>A (p.Phe100Leu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002047715] Chr16:4800534 [GRCh38]
Chr16:4850535 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.255+8C>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002189008] Chr16:4801259 [GRCh38]
Chr16:4851260 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.531+15_531+24del deletion Amelocerebrohypohidrotic syndrome [RCV002110656] Chr16:4798545..4798554 [GRCh38]
Chr16:4848546..4848555 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.187C>T (p.Leu63=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002106246]|not provided [RCV003426342] Chr16:4801516 [GRCh38]
Chr16:4851517 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.823-8C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002206753] Chr16:4797509 [GRCh38]
Chr16:4847510 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.36G>A (p.Arg12=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002088139] Chr16:4802536 [GRCh38]
Chr16:4852537 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.45+11C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002206882] Chr16:4802516 [GRCh38]
Chr16:4852517 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.249C>T (p.Ser83=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002091778] Chr16:4801273 [GRCh38]
Chr16:4851274 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.46-20C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002185050] Chr16:4802473 [GRCh38]
Chr16:4852474 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.118-24_118-17del deletion Amelocerebrohypohidrotic syndrome [RCV002124905] Chr16:4801602..4801609 [GRCh38]
Chr16:4851603..4851610 [GRCh37]
Chr16:16p13.3		 benign
NM_024589.3(ROGDI):c.646-19C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002165259] Chr16:4798006 [GRCh38]
Chr16:4848007 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.696-16C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002088976] Chr16:4797856 [GRCh38]
Chr16:4847857 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.534G>A (p.Arg178=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002104945] Chr16:4798182 [GRCh38]
Chr16:4848183 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.822+17C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002125013] Chr16:4797697 [GRCh38]
Chr16:4847698 [GRCh37]
Chr16:16p13.3		 benign
NM_024589.3(ROGDI):c.114C>G (p.Leu38=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002209394] Chr16:4802385 [GRCh38]
Chr16:4852386 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.695+15G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002071040] Chr16:4797923 [GRCh38]
Chr16:4847924 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.798G>A (p.Gln266=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002166597] Chr16:4797738 [GRCh38]
Chr16:4847739 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.696-15T>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002129972] Chr16:4797855 [GRCh38]
Chr16:4847856 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.801C>T (p.Leu267=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002124479] Chr16:4797735 [GRCh38]
Chr16:4847736 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.46-11C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002152880] Chr16:4802464 [GRCh38]
Chr16:4852465 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.532-17C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002173545] Chr16:4798201 [GRCh38]
Chr16:4848202 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.45+12G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002117024] Chr16:4802515 [GRCh38]
Chr16:4852516 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.180C>T (p.Asn60=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002209485] Chr16:4801523 [GRCh38]
Chr16:4851524 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.822+18G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002087986] Chr16:4797696 [GRCh38]
Chr16:4847697 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.432+13dup duplication Amelocerebrohypohidrotic syndrome [RCV002129593] Chr16:4799672..4799673 [GRCh38]
Chr16:4849673..4849674 [GRCh37]
Chr16:16p13.3		 benign
NM_024589.3(ROGDI):c.531+20C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002215176] Chr16:4798549 [GRCh38]
Chr16:4848550 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.588C>G (p.Leu196=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002085342] Chr16:4798128 [GRCh38]
Chr16:4848129 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.360G>A (p.Val120=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002216318] Chr16:4799758 [GRCh38]
Chr16:4849759 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.139C>T (p.Leu47=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002148898] Chr16:4801564 [GRCh38]
Chr16:4851565 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.645+15del deletion Amelocerebrohypohidrotic syndrome [RCV002133318] Chr16:4798056 [GRCh38]
Chr16:4848057 [GRCh37]
Chr16:16p13.3		 benign
NM_024589.3(ROGDI):c.48G>A (p.Glu16=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002193141] Chr16:4802451 [GRCh38]
Chr16:4852452 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.681C>T (p.Ser227=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002094005] Chr16:4797952 [GRCh38]
Chr16:4847953 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.333G>A (p.Gln111=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002094021] Chr16:4800501 [GRCh38]
Chr16:4850502 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.336+19G>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002191656] Chr16:4800479 [GRCh38]
Chr16:4850480 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.480C>T (p.Leu160=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002166077] Chr16:4798620 [GRCh38]
Chr16:4848621 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.823-14C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002092953] Chr16:4797515 [GRCh38]
Chr16:4847516 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.357T>C (p.His119=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002192734] Chr16:4799761 [GRCh38]
Chr16:4849762 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.432+14G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002114302] Chr16:4799672 [GRCh38]
Chr16:4849673 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.432+8G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002148161] Chr16:4799678 [GRCh38]
Chr16:4849679 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.118-6C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002114306] Chr16:4801591 [GRCh38]
Chr16:4851592 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.825C>A (p.Ile275=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002151080] Chr16:4797499 [GRCh38]
Chr16:4847500 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.433-14G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002078285] Chr16:4798681 [GRCh38]
Chr16:4848682 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.555G>A (p.Pro185=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002078623] Chr16:4798161 [GRCh38]
Chr16:4848162 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.201-9A>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002218235] Chr16:4801330 [GRCh38]
Chr16:4851331 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.201-15C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002180947] Chr16:4801336 [GRCh38]
Chr16:4851337 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.201-19C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002139353] Chr16:4801340 [GRCh38]
Chr16:4851341 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.695+16C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002120665] Chr16:4797922 [GRCh38]
Chr16:4847923 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.45+19C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002122981]|not provided [RCV003426330] Chr16:4802508 [GRCh38]
Chr16:4852509 [GRCh37]
Chr16:16p13.3		 benign
NM_024589.3(ROGDI):c.823-14C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002097803] Chr16:4797515 [GRCh38]
Chr16:4847516 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.337-13C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002218565] Chr16:4799794 [GRCh38]
Chr16:4849795 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.117+20C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002144537] Chr16:4802362 [GRCh38]
Chr16:4852363 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.825C>T (p.Ile275=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002161739] Chr16:4797499 [GRCh38]
Chr16:4847500 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.256-5G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002156709] Chr16:4800583 [GRCh38]
Chr16:4850584 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.433-5T>C single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002164102] Chr16:4798672 [GRCh38]
Chr16:4848673 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.645+8G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002204783] Chr16:4798063 [GRCh38]
Chr16:4848064 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.45+16C>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002204808] Chr16:4802511 [GRCh38]
Chr16:4852512 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.432+16G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002101958] Chr16:4799670 [GRCh38]
Chr16:4849671 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.729C>T (p.His243=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002203102] Chr16:4797807 [GRCh38]
Chr16:4847808 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.46-12T>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002102257] Chr16:4802465 [GRCh38]
Chr16:4852466 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.276C>T (p.Pro92=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002122112] Chr16:4800558 [GRCh38]
Chr16:4850559 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.255+13del deletion Amelocerebrohypohidrotic syndrome [RCV002123971] Chr16:4801254 [GRCh38]
Chr16:4851255 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.46-13G>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002155493] Chr16:4802466 [GRCh38]
Chr16:4852467 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.36G>C (p.Arg12=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002140965] Chr16:4802536 [GRCh38]
Chr16:4852537 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.501C>T (p.Thr167=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002177402] Chr16:4798599 [GRCh38]
Chr16:4848600 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.646-11G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002180753] Chr16:4797998 [GRCh38]
Chr16:4847999 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.255+11C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002120322] Chr16:4801256 [GRCh38]
Chr16:4851257 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.237G>A (p.Gly79=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002155000] Chr16:4801285 [GRCh38]
Chr16:4851286 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.696-26_696-14del deletion Amelocerebrohypohidrotic syndrome [RCV002118631] Chr16:4797854..4797866 [GRCh38]
Chr16:4847855..4847867 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.118-11C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002155539] Chr16:4801596 [GRCh38]
Chr16:4851597 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.201-13C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002161308] Chr16:4801334 [GRCh38]
Chr16:4851335 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_3293141)_(5971108_?)dup duplication Rubinstein-Taybi syndrome [RCV003113465] Chr16:3293141..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.296A>G (p.His99Arg) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003112122] Chr16:4800538 [GRCh38]
Chr16:4850539 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.386G>A (p.Ser129Asn) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003116277]|Inborn genetic diseases [RCV003294630] Chr16:4799732 [GRCh38]
Chr16:4849733 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_024589.3(ROGDI):c.337-11C>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003116278] Chr16:4799792 [GRCh38]
Chr16:4849793 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.325A>G (p.Lys109Glu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003121927] Chr16:4800509 [GRCh38]
Chr16:4850510 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.486C>T (p.Thr162=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003118722] Chr16:4798614 [GRCh38]
Chr16:4848615 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.9:g.(?_4847919)_(4852572_?)dup duplication Amelocerebrohypohidrotic syndrome [RCV003122672] Chr16:4847919..4852572 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.533G>A (p.Arg178Gln) single nucleotide variant not provided [RCV002276024] Chr16:4798183 [GRCh38]
Chr16:4848184 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.14T>C (p.Met5Thr) single nucleotide variant not provided [RCV002261523] Chr16:4802558 [GRCh38]
Chr16:4852559 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.607G>C (p.Val203Leu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002301198] Chr16:4798109 [GRCh38]
Chr16:4848110 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.255+12G>C single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002858663] Chr16:4801255 [GRCh38]
Chr16:4851256 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.839G>T (p.Ser280Ile) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002839005] Chr16:4797485 [GRCh38]
Chr16:4847486 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.822+14G>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002839473] Chr16:4797700 [GRCh38]
Chr16:4847701 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.27G>A (p.Ala9=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002862679] Chr16:4802545 [GRCh38]
Chr16:4852546 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.256-16C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002819926] Chr16:4800594 [GRCh38]
Chr16:4850595 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.616C>T (p.Leu206=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003017264] Chr16:4798100 [GRCh38]
Chr16:4848101 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.570C>G (p.Val190=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002690178] Chr16:4798146 [GRCh38]
Chr16:4848147 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.677A>G (p.His226Arg) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002615834] Chr16:4797956 [GRCh38]
Chr16:4847957 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.169A>T (p.Lys57Ter) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002863069] Chr16:4801534 [GRCh38]
Chr16:4851535 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.491_508dup (p.Pro169_Glu170insAlaThrLeuThrLeuPro) duplication not provided [RCV002511392] Chr16:4798591..4798592 [GRCh38]
Chr16:4848592..4848593 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.408C>A (p.Phe136Leu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002775892] Chr16:4799710 [GRCh38]
Chr16:4849711 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.31G>A (p.Glu11Lys) single nucleotide variant Inborn genetic diseases [RCV002751716] Chr16:4802541 [GRCh38]
Chr16:4852542 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.205G>T (p.Asp69Tyr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002616460] Chr16:4801317 [GRCh38]
Chr16:4851318 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.236G>A (p.Gly79Glu) single nucleotide variant Inborn genetic diseases [RCV002778617] Chr16:4801286 [GRCh38]
Chr16:4851287 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.235G>A (p.Gly79Arg) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003016500] Chr16:4801287 [GRCh38]
Chr16:4851288 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.336+8C>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003095453] Chr16:4800490 [GRCh38]
Chr16:4850491 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.300C>T (p.Phe100=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002927018] Chr16:4800534 [GRCh38]
Chr16:4850535 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.413C>T (p.Thr138Met) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003002313] Chr16:4799705 [GRCh38]
Chr16:4849706 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.118-6C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002740390] Chr16:4801591 [GRCh38]
Chr16:4851592 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.367G>A (p.Ala123Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002885699] Chr16:4799751 [GRCh38]
Chr16:4849752 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.532-11G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002637470] Chr16:4798195 [GRCh38]
Chr16:4848196 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.45+9C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002976627] Chr16:4802518 [GRCh38]
Chr16:4852519 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.785C>T (p.Thr262Ile) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002998846] Chr16:4797751 [GRCh38]
Chr16:4847752 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.278G>A (p.Arg93Gln) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003054248]|Inborn genetic diseases [RCV003274162] Chr16:4800556 [GRCh38]
Chr16:4850557 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.336+13C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002637713] Chr16:4800485 [GRCh38]
Chr16:4850486 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.421G>A (p.Glu141Lys) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002846231] Chr16:4799697 [GRCh38]
Chr16:4849698 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.195C>G (p.Ser65Arg) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003054682] Chr16:4801508 [GRCh38]
Chr16:4851509 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.645+7_645+9del microsatellite Amelocerebrohypohidrotic syndrome [RCV002847912] Chr16:4798062..4798064 [GRCh38]
Chr16:4848063..4848065 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.146G>A (p.Gly49Asp) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002957749] Chr16:4801557 [GRCh38]
Chr16:4851558 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.492C>T (p.Ala164=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003041829] Chr16:4798608 [GRCh38]
Chr16:4848609 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.844T>C (p.Trp282Arg) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003082140] Chr16:4797480 [GRCh38]
Chr16:4847481 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.309G>C (p.Arg103=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003042582] Chr16:4800525 [GRCh38]
Chr16:4850526 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.823-3C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002625169] Chr16:4797504 [GRCh38]
Chr16:4847505 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.201-9A>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003058869] Chr16:4801330 [GRCh38]
Chr16:4851331 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.208C>T (p.Gln70Ter) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002745401] Chr16:4801314 [GRCh38]
Chr16:4851315 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.469C>G (p.Arg157Gly) single nucleotide variant Inborn genetic diseases [RCV002919760] Chr16:4798631 [GRCh38]
Chr16:4848632 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.158A>G (p.Glu53Gly) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003056967] Chr16:4801545 [GRCh38]
Chr16:4851546 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.96G>A (p.Lys32=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002642427] Chr16:4802403 [GRCh38]
Chr16:4852404 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.595C>T (p.Leu199Phe) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002643836] Chr16:4798121 [GRCh38]
Chr16:4848122 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.695dup (p.Glu233fs) duplication Amelocerebrohypohidrotic syndrome [RCV002890942] Chr16:4797937..4797938 [GRCh38]
Chr16:4847938..4847939 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.532C>T (p.Arg178Trp) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002625175]|Inborn genetic diseases [RCV004072011] Chr16:4798184 [GRCh38]
Chr16:4848185 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.771C>T (p.Ala257=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003041635] Chr16:4797765 [GRCh38]
Chr16:4847766 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.148T>C (p.Ser50Pro) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002929030] Chr16:4801555 [GRCh38]
Chr16:4851556 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.754C>A (p.Pro252Thr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002829741] Chr16:4797782 [GRCh38]
Chr16:4847783 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.85G>C (p.Ala29Pro) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002830040] Chr16:4802414 [GRCh38]
Chr16:4852415 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.558C>A (p.Ser186=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003022803] Chr16:4798158 [GRCh38]
Chr16:4848159 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.120G>C (p.Glu40Asp) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002711679] Chr16:4801583 [GRCh38]
Chr16:4851584 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.433-8C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002633084] Chr16:4798675 [GRCh38]
Chr16:4848676 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.433-18C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003087654] Chr16:4798685 [GRCh38]
Chr16:4848686 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.637T>G (p.Ser213Ala) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002628992] Chr16:4798079 [GRCh38]
Chr16:4848080 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.562C>G (p.Leu188Val) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003027428] Chr16:4798154 [GRCh38]
Chr16:4848155 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.279G>C (p.Arg93=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002835128] Chr16:4800555 [GRCh38]
Chr16:4850556 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.575T>A (p.Val192Asp) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003048374] Chr16:4798141 [GRCh38]
Chr16:4848142 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.735C>T (p.His245=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003089853] Chr16:4797801 [GRCh38]
Chr16:4847802 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.231G>T (p.Leu77=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003060321] Chr16:4801291 [GRCh38]
Chr16:4851292 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.295C>T (p.His99Tyr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002717025] Chr16:4800539 [GRCh38]
Chr16:4850540 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.222G>C (p.Val74=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003047562] Chr16:4801300 [GRCh38]
Chr16:4851301 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.432+11C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002898980] Chr16:4799675 [GRCh38]
Chr16:4849676 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.695+17G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002962554] Chr16:4797921 [GRCh38]
Chr16:4847922 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.695+17G>C single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003060075] Chr16:4797921 [GRCh38]
Chr16:4847922 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.232C>T (p.Gln78Ter) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002807274] Chr16:4801290 [GRCh38]
Chr16:4851291 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.525C>T (p.Gly175=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003046549] Chr16:4798575 [GRCh38]
Chr16:4848576 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.86C>G (p.Ala29Gly) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003064946] Chr16:4802413 [GRCh38]
Chr16:4852414 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.112C>G (p.Leu38Val) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002967148] Chr16:4802387 [GRCh38]
Chr16:4852388 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.337-15G>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003090660] Chr16:4799796 [GRCh38]
Chr16:4849797 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.831G>A (p.Val277=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003009774] Chr16:4797493 [GRCh38]
Chr16:4847494 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.82C>T (p.His28Tyr) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002834932] Chr16:4802417 [GRCh38]
Chr16:4852418 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.852C>T (p.Tyr284=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002725906] Chr16:4797472 [GRCh38]
Chr16:4847473 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.696-20G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002634372] Chr16:4797860 [GRCh38]
Chr16:4847861 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.645+13C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003067464] Chr16:4798058 [GRCh38]
Chr16:4848059 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.172C>G (p.Gln58Glu) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002676748] Chr16:4801531 [GRCh38]
Chr16:4851532 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.118-14C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002633904] Chr16:4801599 [GRCh38]
Chr16:4851600 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.256-11T>C single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003071991] Chr16:4800589 [GRCh38]
Chr16:4850590 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.696-10C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003093551] Chr16:4797850 [GRCh38]
Chr16:4847851 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.5C>T (p.Ala2Val) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV002653850] Chr16:4802567 [GRCh38]
Chr16:4852568 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.586C>T (p.Leu196Phe) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003224725] Chr16:4798130 [GRCh38]
Chr16:4848131 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.16G>T (p.Ala6Ser) single nucleotide variant Inborn genetic diseases [RCV003200853] Chr16:4802556 [GRCh38]
Chr16:4852557 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.531+5G>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003135787] Chr16:4798564 [GRCh38]
Chr16:4848565 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.805C>A (p.Gln269Lys) single nucleotide variant Inborn genetic diseases [RCV003193449] Chr16:4797731 [GRCh38]
Chr16:4847732 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.646-2_649del deletion Amelocerebrohypohidrotic syndrome [RCV003338175] Chr16:4797984..4797989 [GRCh38]
Chr16:4847985..4847990 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_024589.3(ROGDI):c.201-17G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003874475] Chr16:4801338 [GRCh38]
Chr16:4851339 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3 copy number gain not provided [RCV003485087] Chr16:4462897..5172225 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.*116C>T single nucleotide variant not provided [RCV003411257] Chr16:4797344 [GRCh38]
Chr16:4847345 [GRCh37]
Chr16:16p13.3		 benign
NM_024589.3(ROGDI):c.255+22C>T single nucleotide variant not provided [RCV003426569] Chr16:4801245 [GRCh38]
Chr16:4851246 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.562C>T (p.Leu188=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003530858] Chr16:4798154 [GRCh38]
Chr16:4848155 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.789C>A (p.Val263=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003530418] Chr16:4797747 [GRCh38]
Chr16:4847748 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.255+20C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003530487] Chr16:4801247 [GRCh38]
Chr16:4851248 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.46-7C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003530649] Chr16:4802460 [GRCh38]
Chr16:4852461 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.152dup (p.Thr52fs) duplication Amelocerebrohypohidrotic syndrome [RCV003647132] Chr16:4801550..4801551 [GRCh38]
Chr16:4851551..4851552 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.18A>G (p.Ala6=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003646055] Chr16:4802554 [GRCh38]
Chr16:4852555 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.695+13G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003529869] Chr16:4797925 [GRCh38]
Chr16:4847926 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.433-13C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003646117] Chr16:4798680 [GRCh38]
Chr16:4848681 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.822+13C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003646329] Chr16:4797701 [GRCh38]
Chr16:4847702 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.597C>T (p.Leu199=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003646372] Chr16:4798119 [GRCh38]
Chr16:4848120 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.46-15G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003647059] Chr16:4802468 [GRCh38]
Chr16:4852469 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.309G>A (p.Arg103=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003645977] Chr16:4800525 [GRCh38]
Chr16:4850526 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.336+13C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003647189] Chr16:4800485 [GRCh38]
Chr16:4850486 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.34C>A (p.Arg12=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003646610] Chr16:4802538 [GRCh38]
Chr16:4852539 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.823-19G>C single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003646644] Chr16:4797520 [GRCh38]
Chr16:4847521 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.696-18C>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003646654] Chr16:4797858 [GRCh38]
Chr16:4847859 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.9C>T (p.Thr3=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003646059] Chr16:4802563 [GRCh38]
Chr16:4852564 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.132C>G (p.Arg44=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003646757] Chr16:4801571 [GRCh38]
Chr16:4851572 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.331C>T (p.Gln111Ter) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003646772] Chr16:4800503 [GRCh38]
Chr16:4850504 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.336+12C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003646227] Chr16:4800486 [GRCh38]
Chr16:4850487 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.531+14C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003529858] Chr16:4798555 [GRCh38]
Chr16:4848556 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.75C>T (p.Asp25=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003646330] Chr16:4802424 [GRCh38]
Chr16:4852425 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.117+9C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003646858] Chr16:4802373 [GRCh38]
Chr16:4852374 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.432+12C>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003646342] Chr16:4799674 [GRCh38]
Chr16:4849675 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.256-29_256-13dup duplication Amelocerebrohypohidrotic syndrome [RCV003647006] Chr16:4800590..4800591 [GRCh38]
Chr16:4850591..4850592 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.118-13C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003647047] Chr16:4801598 [GRCh38]
Chr16:4851599 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.118-20T>C single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003646751] Chr16:4801605 [GRCh38]
Chr16:4851606 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.46-18G>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003646071] Chr16:4802471 [GRCh38]
Chr16:4852472 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.531+11C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003647191] Chr16:4798558 [GRCh38]
Chr16:4848559 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.255+20C>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003647212] Chr16:4801247 [GRCh38]
Chr16:4851248 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.117+11G>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003646144] Chr16:4802371 [GRCh38]
Chr16:4852372 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.118-2A>C single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003646344] Chr16:4801587 [GRCh38]
Chr16:4851588 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_024589.3(ROGDI):c.822+19C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003646945] Chr16:4797695 [GRCh38]
Chr16:4847696 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.823-20A>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003834195] Chr16:4797521 [GRCh38]
Chr16:4847522 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.111C>T (p.Ile37=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003814876] Chr16:4802388 [GRCh38]
Chr16:4852389 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.645+15C>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003531348] Chr16:4798056 [GRCh38]
Chr16:4848057 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.237G>C (p.Gly79=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003531370] Chr16:4801285 [GRCh38]
Chr16:4851286 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.45+17A>G single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003531001] Chr16:4802510 [GRCh38]
Chr16:4852511 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.762C>A (p.Leu254=) single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003531050] Chr16:4797774 [GRCh38]
Chr16:4847775 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.255+13G>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003823886] Chr16:4801254 [GRCh38]
Chr16:4851255 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.45+14G>A single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003823260] Chr16:4802513 [GRCh38]
Chr16:4852514 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.646-16G>T single nucleotide variant Amelocerebrohypohidrotic syndrome [RCV003819700] Chr16:4798003 [GRCh38]
Chr16:4848004 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.-3_45+8del deletion Amelocerebrohypohidrotic syndrome [RCV003859834] Chr16:4802519..4802574 [GRCh38]
Chr16:4852520..4852575 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_024589.3(ROGDI):c.46-33_46-31dup duplication ROGDI-related disorder [RCV003951558] Chr16:4802483..4802484 [GRCh38]
Chr16:4852484..4852485 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.46-27G>A single nucleotide variant ROGDI-related disorder [RCV003949743] Chr16:4802480 [GRCh38]
Chr16:4852481 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.318G>A (p.Lys106=) single nucleotide variant ROGDI-related disorder [RCV003912205] Chr16:4800516 [GRCh38]
Chr16:4850517 [GRCh37]
Chr16:16p13.3		 likely benign
NM_024589.3(ROGDI):c.166G>T (p.Ala56Ser) single nucleotide variant Inborn genetic diseases [RCV004665608] Chr16:4801537 [GRCh38]
Chr16:4851538 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.206A>T (p.Asp69Val) single nucleotide variant Inborn genetic diseases [RCV004665607] Chr16:4801316 [GRCh38]
Chr16:4851317 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_024589.3(ROGDI):c.415G>A (p.Gly139Ser) single nucleotide variant not provided [RCV004794167] Chr16:4799703 [GRCh38]
Chr16:4849704 [GRCh37]
Chr16:16p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5686
Count of miRNA genes:1017
Interacting mature miRNAs:1282
Transcripts:ENST00000322048, ENST00000585653, ENST00000585871, ENST00000586153, ENST00000586336, ENST00000586504, ENST00000587377, ENST00000587711, ENST00000587843, ENST00000588201, ENST00000589543, ENST00000590198, ENST00000591292, ENST00000591392, ENST00000592019, ENST00000592112
Prediction methods:Miranda, Rnahybrid
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-61126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,853,352 - 4,853,486UniSTSGRCh37
Build 36164,793,353 - 4,793,487RGDNCBI36
Celera165,062,122 - 5,062,256RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,819,550 - 4,819,684UniSTS
GeneMap99-GB4 RH Map1668.88UniSTS
RH70097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,853,999 - 4,854,136UniSTSGRCh37
GRCh372048,448,766 - 48,448,901UniSTSGRCh37
Build 36164,794,000 - 4,794,137RGDNCBI36
Celera165,062,769 - 5,062,906RGD
Celera2045,153,359 - 45,153,494UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
HuRef164,820,197 - 4,820,334UniSTS
HuRef2045,198,062 - 45,198,197UniSTS
RH44934  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,854,024 - 4,854,132UniSTSGRCh37
Build 36164,794,025 - 4,794,133RGDNCBI36
Celera165,062,794 - 5,062,902RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,820,222 - 4,820,330UniSTS
SHGC-60805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,847,002 - 4,847,106UniSTSGRCh37
Build 36164,787,003 - 4,787,107RGDNCBI36
Celera165,055,772 - 5,055,876RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,813,200 - 4,813,304UniSTS
GeneMap99-GB4 RH Map1668.88UniSTS
Whitehead-RH Map1626.2UniSTS
NCBI RH Map16139.9UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2252 4972 1726 2350 6 624 1951 465 2269 7304 6470 53 3734 1 852 1744 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA740842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000322048   ⟹   ENSP00000322832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,796,968 - 4,802,633 (-)Ensembl
Ensembl Acc Id: ENST00000585653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,798,504 - 4,802,630 (-)Ensembl
Ensembl Acc Id: ENST00000585871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,801,029 - 4,802,880 (-)Ensembl
Ensembl Acc Id: ENST00000586153   ⟹   ENSP00000464699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,797,721 - 4,800,578 (-)Ensembl
Ensembl Acc Id: ENST00000586336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,797,742 - 4,802,184 (-)Ensembl
Ensembl Acc Id: ENST00000586504   ⟹   ENSP00000465076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,797,403 - 4,801,301 (-)Ensembl
Ensembl Acc Id: ENST00000587377   ⟹   ENSP00000468343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,796,987 - 4,802,615 (-)Ensembl
Ensembl Acc Id: ENST00000587711   ⟹   ENSP00000467459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,797,707 - 4,802,627 (-)Ensembl
Ensembl Acc Id: ENST00000587843   ⟹   ENSP00000465970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,796,969 - 4,802,633 (-)Ensembl
Ensembl Acc Id: ENST00000588201   ⟹   ENSP00000466529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,797,247 - 4,802,673 (-)Ensembl
Ensembl Acc Id: ENST00000589543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,797,780 - 4,801,659 (-)Ensembl
Ensembl Acc Id: ENST00000590198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,801,333 - 4,802,665 (-)Ensembl
Ensembl Acc Id: ENST00000591292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,796,969 - 4,802,162 (-)Ensembl
Ensembl Acc Id: ENST00000591392   ⟹   ENSP00000467509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,797,703 - 4,802,621 (-)Ensembl
Ensembl Acc Id: ENST00000592019   ⟹   ENSP00000468334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,797,309 - 4,800,552 (-)Ensembl
Ensembl Acc Id: ENST00000592112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,801,816 - 4,802,856 (-)Ensembl
RefSeq Acc Id: NM_024589   ⟹   NP_078865
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,796,968 - 4,802,633 (-)NCBI
GRCh37164,846,963 - 4,852,951 (-)NCBI
Build 36164,786,970 - 4,792,675 (-)NCBI Archive
Celera165,055,739 - 5,061,444 (-)RGD
HuRef164,813,161 - 4,819,149 (-)NCBI
CHM1_1164,847,809 - 4,853,797 (-)NCBI
T2T-CHM13v2.0164,826,450 - 4,832,187 (-)NCBI
Sequence:
RefSeq Acc Id: NR_046480
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,796,968 - 4,802,633 (-)NCBI
GRCh37164,846,963 - 4,852,951 (-)NCBI
HuRef164,813,161 - 4,819,149 (-)NCBI
CHM1_1164,847,809 - 4,853,797 (-)NCBI
T2T-CHM13v2.0164,826,450 - 4,832,187 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006720947   ⟹   XP_006721010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,796,968 - 4,802,633 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047434636   ⟹   XP_047290592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,796,968 - 4,802,448 (-)NCBI
RefSeq Acc Id: XM_054313929   ⟹   XP_054169904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,826,450 - 4,832,187 (-)NCBI
RefSeq Acc Id: XM_054313930   ⟹   XP_054169905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,826,450 - 4,831,139 (-)NCBI
RefSeq Acc Id: NP_078865   ⟸   NM_024589
- UniProtKB: Q9GZN7 (UniProtKB/Swiss-Prot),   Q6IA00 (UniProtKB/Swiss-Prot),   K7EPS3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006721010   ⟸   XM_006720947
- Peptide Label: isoform X1
- UniProtKB: K7EPS3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000322832   ⟸   ENST00000322048
Ensembl Acc Id: ENSP00000464699   ⟸   ENST00000586153
Ensembl Acc Id: ENSP00000465076   ⟸   ENST00000586504
Ensembl Acc Id: ENSP00000468343   ⟸   ENST00000587377
Ensembl Acc Id: ENSP00000465970   ⟸   ENST00000587843
Ensembl Acc Id: ENSP00000467459   ⟸   ENST00000587711
Ensembl Acc Id: ENSP00000466529   ⟸   ENST00000588201
Ensembl Acc Id: ENSP00000467509   ⟸   ENST00000591392
Ensembl Acc Id: ENSP00000468334   ⟸   ENST00000592019
RefSeq Acc Id: XP_047290592   ⟸   XM_047434636
- Peptide Label: isoform X2
- UniProtKB: B3KNQ1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054169904   ⟸   XM_054313929
- Peptide Label: isoform X1
- UniProtKB: K7EPS3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054169905   ⟸   XM_054313930
- Peptide Label: isoform X2
- UniProtKB: B3KNQ1 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9GZN7-F1-model_v2 AlphaFold Q9GZN7 1-287 view protein structure

Promoters
RGD ID:7231235
Promoter ID:EPDNEW_H21364
Type:initiation region
Name:ROGDI_1
Description:rogdi homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21365  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,802,633 - 4,802,693EPDNEW
RGD ID:7231237
Promoter ID:EPDNEW_H21365
Type:initiation region
Name:ROGDI_2
Description:rogdi homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21364  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,802,926 - 4,802,986EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29478 AgrOrtholog
COSMIC ROGDI COSMIC
Ensembl Genes ENSG00000067836 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000322048 ENTREZGENE
  ENST00000322048.12 UniProtKB/Swiss-Prot
  ENST00000586153.1 UniProtKB/TrEMBL
  ENST00000586504.5 UniProtKB/TrEMBL
  ENST00000587377.5 UniProtKB/TrEMBL
  ENST00000587711.5 UniProtKB/TrEMBL
  ENST00000587843 ENTREZGENE
  ENST00000587843.5 UniProtKB/TrEMBL
  ENST00000588201.5 UniProtKB/TrEMBL
  ENST00000591392.5 UniProtKB/TrEMBL
  ENST00000592019.1 UniProtKB/TrEMBL
GTEx ENSG00000067836 GTEx
HGNC ID HGNC:29478 ENTREZGENE
Human Proteome Map ROGDI Human Proteome Map
InterPro RAVE2/Rogdi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79641 UniProtKB/Swiss-Prot
NCBI Gene 79641 ENTREZGENE
OMIM 614574 OMIM
PANTHER PROTEIN ROGDI HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13618 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Rogdi_lz UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA143485597 PharmGKB
UniProt B3KNQ1 ENTREZGENE, UniProtKB/TrEMBL
  K7EID1_HUMAN UniProtKB/TrEMBL
  K7EJ96_HUMAN UniProtKB/TrEMBL
  K7EL91_HUMAN UniProtKB/TrEMBL
  K7EMJ5_HUMAN UniProtKB/TrEMBL
  K7EPN1_HUMAN UniProtKB/TrEMBL
  K7EPS3 ENTREZGENE, UniProtKB/TrEMBL
  K7ERN3_HUMAN UniProtKB/TrEMBL
  K7ERP1_HUMAN UniProtKB/TrEMBL
  Q6IA00 ENTREZGENE
  Q9GZN7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q6IA00 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-11-29 ROGDI  rogdi atypical leucine zipper    rogdi homolog  Symbol and/or name change 5135510 APPROVED
2015-06-30 ROGDI  rogdi homolog    rogdi homolog (Drosophila)  Symbol and/or name change 5135510 APPROVED
2012-04-03 ROGDI  rogdi homolog (Drosophila)  ROGDI  rogdi homolog (Drosophila)  Symbol and/or name change 5135510 APPROVED