GNPTG (N-acetylglucosamine-1-phosphate transferase subunit gamma) - Rat Genome Database

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Gene: GNPTG (N-acetylglucosamine-1-phosphate transferase subunit gamma) Homo sapiens
Analyze
Symbol: GNPTG
Name: N-acetylglucosamine-1-phosphate transferase subunit gamma
RGD ID: 1353704
HGNC Page HGNC:23026
Description: Predicted to enable protein homodimerization activity. Involved in carbohydrate phosphorylation. Located in extracellular exosome. Part of Golgi apparatus and UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex. Implicated in glycoproteinosis and mucolipidosis III gamma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C16orf27; chromosome 16 open reading frame 27; glcNAc-1-phosphotransferase subunit gamma; GNPTAG; LP2537; N-acetylglucosamine-1-phosphate transferase gamma subunit; N-acetylglucosamine-1-phosphate transferase, gamma subunit; N-acetylglucosamine-1-phosphotransferase subunit gamma; n-acetylglucosamine-1-phosphotransferase, gamma subunit; RJD9; UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma
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
GRCh38161,351,931 - 1,364,113 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl161,351,931 - 1,365,737 (+)EnsemblGRCh38hg38GRCh38
GRCh37161,401,932 - 1,414,114 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36161,341,933 - 1,353,353 (+)NCBINCBI36Build 36hg18NCBI36
Build 34161,341,932 - 1,353,352NCBI
Celera161,616,015 - 1,627,466 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef161,330,298 - 1,341,747 (+)NCBIHuRef
CHM1_1161,401,841 - 1,413,248 (+)NCBICHM1_1
T2T-CHM13v2.0161,368,108 - 1,380,245 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) Raas-Rothschild A, etal., J Clin Invest. 2000 Mar;105(5):673-81.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:3019310   PMID:11157797   PMID:12107412   PMID:15231747   PMID:15489334   PMID:15498874   PMID:15616553   PMID:17213182   PMID:18029348   PMID:19199708   PMID:19370764   PMID:19659762  
PMID:19708128   PMID:19955174   PMID:20034096   PMID:20147709   PMID:20301784   PMID:20951619   PMID:21873635   PMID:22884963   PMID:23376485   PMID:24316125   PMID:25505245   PMID:25643770  
PMID:26130485   PMID:26186194   PMID:26385638   PMID:26496610   PMID:26935170   PMID:27038293   PMID:28514442   PMID:29170090   PMID:29289611   PMID:30235039   PMID:30833792   PMID:30882951  
PMID:31003007   PMID:32220096   PMID:32651481   PMID:33507475   PMID:33961781   PMID:34116066   PMID:34341521   PMID:35256949   PMID:35696571   PMID:35914814  


Genomics

Comparative Map Data
GNPTG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38161,351,931 - 1,364,113 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl161,351,931 - 1,365,737 (+)EnsemblGRCh38hg38GRCh38
GRCh37161,401,932 - 1,414,114 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36161,341,933 - 1,353,353 (+)NCBINCBI36Build 36hg18NCBI36
Build 34161,341,932 - 1,353,352NCBI
Celera161,616,015 - 1,627,466 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef161,330,298 - 1,341,747 (+)NCBIHuRef
CHM1_1161,401,841 - 1,413,248 (+)NCBICHM1_1
T2T-CHM13v2.0161,368,108 - 1,380,245 (+)NCBIT2T-CHM13v2.0
Gnptg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391725,451,324 - 25,459,302 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1725,452,305 - 25,459,098 (-)EnsemblGRCm39 Ensembl
GRCm381725,232,224 - 25,240,328 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1725,233,331 - 25,240,124 (-)EnsemblGRCm38mm10GRCm38
MGSCv371725,371,262 - 25,377,061 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361724,961,917 - 24,967,716 (-)NCBIMGSCv36mm8
Celera1723,126,285 - 23,127,879 (-)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1712.53NCBI
Gnptg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81014,756,685 - 14,761,636 (-)NCBIGRCr8
mRatBN7.21014,252,186 - 14,257,128 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1014,251,136 - 14,257,096 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1018,992,931 - 18,997,848 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01018,481,793 - 18,486,710 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01013,981,008 - 13,985,925 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01014,593,050 - 14,597,995 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1014,593,056 - 14,597,969 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01014,410,645 - 14,415,559 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41014,482,982 - 14,487,901 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11014,483,220 - 14,487,902 (-)NCBI
Celera1013,924,610 - 13,929,529 (-)NCBICelera
Cytogenetic Map10q12NCBI
Gnptg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544215,870,619 - 15,881,511 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544215,870,409 - 15,881,552 (-)NCBIChiLan1.0ChiLan1.0
GNPTG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2181,614,997 - 1,626,971 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1165,402,259 - 5,414,240 (+)NCBINHGRI_mPanPan1
PanPan1.1161,407,410 - 1,418,523 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl161,407,385 - 1,418,523 (+)Ensemblpanpan1.1panPan2
GNPTG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1639,405,801 - 39,418,672 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl639,405,809 - 39,419,392 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha640,673,743 - 40,686,604 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0639,752,035 - 39,764,898 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1639,428,987 - 39,441,626 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0639,401,427 - 39,414,269 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0639,879,918 - 39,892,578 (-)NCBIUU_Cfam_GSD_1.0
Gnptg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344104,168,974 - 104,179,823 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366942,529,640 - 2,540,328 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366942,529,634 - 2,540,474 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GNPTG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl340,512,088 - 40,534,187 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1340,512,093 - 40,534,217 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2341,989,341 - 42,010,552 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GNPTG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.151,240,291 - 1,251,141 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl51,239,693 - 1,255,165 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606829,832,661 - 29,843,520 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gnptg
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249132,062,255 - 2,071,336 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249132,062,607 - 2,071,603 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GNPTG
774 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_032520.5(GNPTG):c.527-10G>A single nucleotide variant GNPTG-mucolipidosis [RCV000023662] Chr16:1362442 [GRCh38]
Chr16:1412443 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter) single nucleotide variant GNPTG-mucolipidosis [RCV000020916]|not provided [RCV001699180] Chr16:1361760 [GRCh38]
Chr16:1411761 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.318-1G>C single nucleotide variant GNPTG-mucolipidosis [RCV000020917]|not provided [RCV001851981] Chr16:1362037 [GRCh38]
Chr16:1412038 [GRCh37]
Chr16:16p13.3		 pathogenic|not provided
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del) microsatellite GNPTG-mucolipidosis [RCV000020918]|Rod-cone dystrophy [RCV003105776]|not provided [RCV000794773] Chr16:1362062..1362064 [GRCh38]
Chr16:1412063..1412065 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_032520.5(GNPTG):c.379_391del (p.Asp127fs) deletion GNPTG-mucolipidosis [RCV000020919] Chr16:1362098..1362110 [GRCh38]
Chr16:1412099..1412111 [GRCh37]
Chr16:16p13.3		 pathogenic|not provided
NM_032520.5(GNPTG):c.523dup (p.Leu175fs) duplication GNPTG-mucolipidosis [RCV000020920] Chr16:1362316..1362317 [GRCh38]
Chr16:1412317..1412318 [GRCh37]
Chr16:16p13.3		 pathogenic|not provided
NM_032520.5(GNPTG):c.608_609insC (p.Gln203fs) insertion GNPTG-mucolipidosis [RCV000020921] Chr16:1362533..1362534 [GRCh38]
Chr16:1412534..1412535 [GRCh37]
Chr16:16p13.3		 pathogenic|not provided
NM_032520.5(GNPTG):c.610-1G>T single nucleotide variant GNPTG-mucolipidosis [RCV000020923] Chr16:1362610 [GRCh38]
Chr16:1412611 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.610-2A>G single nucleotide variant GNPTG-mucolipidosis [RCV000020924]|not provided [RCV001380067] Chr16:1362609 [GRCh38]
Chr16:1412610 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.619_620insT (p.Lys207fs) insertion GNPTG-mucolipidosis [RCV000020925] Chr16:1362620..1362621 [GRCh38]
Chr16:1412621..1412622 [GRCh37]
Chr16:16p13.3		 pathogenic|not provided
NM_032520.5(GNPTG):c.639del (p.Phe213fs) deletion GNPTG-mucolipidosis [RCV000020926] Chr16:1362636 [GRCh38]
Chr16:1412637 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.857C>T (p.Thr286Met) single nucleotide variant GNPTG-mucolipidosis [RCV000020927]|not provided [RCV000675972] Chr16:1363030 [GRCh38]
Chr16:1413031 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance
NM_032520.5(GNPTG):c.445del (p.Ala149fs) deletion GNPTG-mucolipidosis [RCV000032347] Chr16:1362238 [GRCh38]
Chr16:1412239 [GRCh37]
Chr16:16p13.3		 pathogenic
NG_016985.1:g.15664_15697del34 deletion Mucolipidosis III Gamma [RCV000034270] Chr16:1362562..1362595 [GRCh38]
Chr16:1412563..1412596 [GRCh37]
Chr16:16p13.3		 pathogenic
GNPTG, 1-BP INS insertion Mucolipidosis type III gamma [RCV000002928] Chr16:16p pathogenic
NM_032520.4(GNPTG):c.611delG deletion GNPTG-mucolipidosis [RCV000002929] Chr16:1362610 [GRCh38]
Chr16:1412611 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.640_667del (p.Glu214fs) deletion GNPTG-mucolipidosis [RCV000002930] Chr16:1362641..1362668 [GRCh38]
Chr16:1412642..1412669 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.333G>A (p.Trp111Ter) single nucleotide variant GNPTG-mucolipidosis [RCV000002931]|not provided [RCV000726758] Chr16:1362053 [GRCh38]
Chr16:1412054 [GRCh37]
Chr16:16p13.3		 pathogenic
GNPTG, IVS8AS, A-G, -2 single nucleotide variant Mucolipidosis type III gamma [RCV000002932] Chr16:16p pathogenic
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser) single nucleotide variant GNPTG-mucolipidosis [RCV000002933]|not provided [RCV001062193] Chr16:1361954 [GRCh38]
Chr16:1411955 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
GNPTG, 1-BP DEL, 639T deletion Mucolipidosis type III gamma [RCV000002934] Chr16:16p pathogenic
GNPTG, IVS8AS, G-T, -1 single nucleotide variant Mucolipidosis type III gamma [RCV000002935] Chr16:16p pathogenic
NM_032520.5(GNPTG):c.526+10C>T single nucleotide variant not provided [RCV001493985] Chr16:1362330 [GRCh38]
Chr16:1412331 [GRCh37]
Chr16:16p13.3		 likely benign
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(chr16:29941-2560460)x3 copy number gain See cases [RCV000052368] Chr16:29941..2560460 [GRCh38]
Chr16:79941..2610461 [GRCh37]
Chr16:19941..2550462 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46566-1800860)x3 copy number gain See cases [RCV000052369] Chr16:46566..1800860 [GRCh38]
Chr16:96566..1850861 [GRCh37]
Chr16:36566..1790862 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3 copy number gain See cases [RCV000052373] Chr16:1221651..2233773 [GRCh38]
Chr16:1271651..2283774 [GRCh37]
Chr16:1211652..2223775 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3 copy number gain See cases [RCV000052375] Chr16:1278821..1919148 [GRCh38]
Chr16:1328822..1969149 [GRCh37]
Chr16:1268823..1909150 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1773349)x1 copy number loss See cases [RCV000053251] Chr16:23141..1773349 [GRCh38]
Chr16:73141..1823350 [GRCh37]
Chr16:13141..1763351 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1712523)x1 copy number loss See cases [RCV000053252] Chr16:23141..1712523 [GRCh38]
Chr16:73141..1762524 [GRCh37]
Chr16:13141..1702525 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1997582)x1 copy number loss See cases [RCV000053253] Chr16:46766..1997582 [GRCh38]
Chr16:96766..2047583 [GRCh37]
Chr16:36766..1987584 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:105429-1499893)x1 copy number loss See cases [RCV000053267] Chr16:105429..1499893 [GRCh38]
Chr16:155427..1549894 [GRCh37]
Chr16:95427..1489895 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.74C>A (p.Ala25Glu) single nucleotide variant GNPTG-mucolipidosis [RCV000665994]|not provided [RCV000058937]|not specified [RCV003488372] Chr16:1352123 [GRCh38]
Chr16:1402124 [GRCh37]
Chr16:16p13.3		 uncertain significance|not provided
NM_032520.5(GNPTG):c.688C>G (p.Leu230Val) single nucleotide variant not provided [RCV000058938] Chr16:1362689 [GRCh38]
Chr16:1412690 [GRCh37]
Chr16:16p13.3		 not provided
NM_032520.5(GNPTG):c.111-8T>G single nucleotide variant not provided [RCV001494574] Chr16:1352231 [GRCh38]
Chr16:1402232 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.609+28_610-16del deletion GNPTG-mucolipidosis [RCV000020922] Chr16:1362562..1362595 [GRCh38]
Chr16:1412563..1412596 [GRCh37]
Chr16:16p13.3		 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(chr16:46766-1544014)x1 copy number loss See cases [RCV000134917] Chr16:46766..1544014 [GRCh38]
Chr16:96766..1594015 [GRCh37]
Chr16:36766..1534016 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:1257541-1436509)x1 copy number loss See cases [RCV000136187] Chr16:1257541..1436509 [GRCh38]
Chr16:1307542..1486510 [GRCh37]
Chr16:1247543..1426511 [NCBI36]
Chr16:16p13.3		 benign
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46722-1867327)x1 copy number loss See cases [RCV000137826] Chr16:46722..1867327 [GRCh38]
Chr16:96722..1917328 [GRCh37]
Chr16:36722..1857329 [NCBI36]
Chr16:16p13.3		 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_032520.5(GNPTG):c.328G>T (p.Glu110Ter) single nucleotide variant GNPTG-mucolipidosis [RCV000670131]|not provided [RCV001868240] Chr16:1362048 [GRCh38]
Chr16:1412049 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.862_874del (p.Arg288fs) deletion GNPTG-mucolipidosis [RCV000669384] Chr16:1363034..1363046 [GRCh38]
Chr16:1413035..1413047 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.412-1G>C single nucleotide variant GNPTG-mucolipidosis [RCV000669666]|not provided [RCV003542311] Chr16:1362205 [GRCh38]
Chr16:1412206 [GRCh37]
Chr16:16p13.3		 likely pathogenic
GRCh37/hg19 16p13.3(chr16:88165-1715454)x1 copy number loss See cases [RCV000239415] Chr16:88165..1715454 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.242_243del (p.Lys80_Tyr81insTer) deletion GNPTG-mucolipidosis [RCV000669714]|not provided [RCV003767977] Chr16:1361879..1361880 [GRCh38]
Chr16:1411880..1411881 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_032520.5(GNPTG):c.742-1G>A single nucleotide variant GNPTG-mucolipidosis [RCV000669336] Chr16:1362824 [GRCh38]
Chr16:1412825 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.873_878dup (p.Pro292_Glu293insAspPro) duplication GNPTG-mucolipidosis [RCV000669527]|not provided [RCV001855522] Chr16:1363045..1363046 [GRCh38]
Chr16:1413046..1413047 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.233+35C>T single nucleotide variant not specified [RCV000253885] Chr16:1361832 [GRCh38]
Chr16:1411833 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:72769-1511716)x1 copy number loss See cases [RCV000240294] Chr16:72769..1511716 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.411+15G>A single nucleotide variant not provided [RCV002058375]|not specified [RCV000245500] Chr16:1362146 [GRCh38]
Chr16:1412147 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.*224T>C single nucleotide variant GNPTG-mucolipidosis [RCV000368454]|not provided [RCV001567402] Chr16:1363315 [GRCh38]
Chr16:1413316 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_032520.5(GNPTG):c.798C>T (p.His266=) single nucleotide variant GNPTG-mucolipidosis [RCV000301931]|not provided [RCV001485670] Chr16:1362881 [GRCh38]
Chr16:1412882 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032520.5(GNPTG):c.255G>A (p.Pro85=) single nucleotide variant GNPTG-mucolipidosis [RCV000270851]|GNPTG-related disorder [RCV003920340]|not provided [RCV000513198] Chr16:1361893 [GRCh38]
Chr16:1411894 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032520.5(GNPTG):c.*27C>T single nucleotide variant GNPTG-mucolipidosis [RCV000307750] Chr16:1363118 [GRCh38]
Chr16:1413119 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.489C>T (p.Phe163=) single nucleotide variant GNPTG-mucolipidosis [RCV000290708]|not provided [RCV000974327] Chr16:1362283 [GRCh38]
Chr16:1412284 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032520.5(GNPTG):c.548C>T (p.Ala183Val) single nucleotide variant GNPTG-mucolipidosis [RCV000296533]|not provided [RCV001305385] Chr16:1362473 [GRCh38]
Chr16:1412474 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.741+5C>T single nucleotide variant GNPTG-mucolipidosis [RCV000278681]|not provided [RCV000974796] Chr16:1362747 [GRCh38]
Chr16:1412748 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu) single nucleotide variant GNPTG-mucolipidosis [RCV000394180]|not provided [RCV000937043] Chr16:1362714 [GRCh38]
Chr16:1412715 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032520.5(GNPTG):c.394C>T (p.Arg132Trp) single nucleotide variant GNPTG-mucolipidosis [RCV000325865]|Inborn genetic diseases [RCV002522815]|not provided [RCV000969157] Chr16:1362114 [GRCh38]
Chr16:1412115 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032520.5(GNPTG):c.*107ACAAA[1] microsatellite GNPTG-mucolipidosis [RCV000272635] Chr16:1363198..1363202 [GRCh38]
Chr16:1413199..1413203 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.781G>A (p.Gly261Ser) single nucleotide variant GNPTG-mucolipidosis [RCV000398883] Chr16:1362864 [GRCh38]
Chr16:1412865 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.*257dup duplication GNPTG-mucolipidosis [RCV000273366] Chr16:1363347..1363348 [GRCh38]
Chr16:1413348..1413349 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.4(GNPTG):c.-40C>A single nucleotide variant GNPTG-mucolipidosis [RCV000307034] Chr16:1351926 [GRCh38]
Chr16:1401927 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.702T>C (p.Pro234=) single nucleotide variant GNPTG-mucolipidosis [RCV000351383]|not provided [RCV000916738] Chr16:1362703 [GRCh38]
Chr16:1412704 [GRCh37]
Chr16:16p13.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032520.5(GNPTG):c.502G>A (p.Val168Ile) single nucleotide variant GNPTG-mucolipidosis [RCV000331567]|GNPTG-related disorder [RCV003957642]|not provided [RCV000892596] Chr16:1362296 [GRCh38]
Chr16:1412297 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg) single nucleotide variant GNPTG-mucolipidosis [RCV000407474]|GNPTG-related disorder [RCV003910204]|not provided [RCV000675968] Chr16:1352116 [GRCh38]
Chr16:1402117 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032520.5(GNPTG):c.412-14C>T single nucleotide variant GNPTG-mucolipidosis [RCV000385031]|not provided [RCV001402038] Chr16:1362192 [GRCh38]
Chr16:1412193 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032520.5(GNPTG):c.741+6G>A single nucleotide variant GNPTG-mucolipidosis [RCV000338440]|not provided [RCV000842691] Chr16:1362748 [GRCh38]
Chr16:1412749 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032520.5(GNPTG):c.525A>C (p.Leu175=) single nucleotide variant GNPTG-mucolipidosis [RCV000386104]|not provided [RCV001068117] Chr16:1362319 [GRCh38]
Chr16:1412320 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.*68G>T single nucleotide variant GNPTG-mucolipidosis [RCV000362615]|not provided [RCV003391148] Chr16:1363159 [GRCh38]
Chr16:1413160 [GRCh37]
Chr16:16p13.3		 benign|likely benign|uncertain significance
NM_032520.5(GNPTG):c.887G>A (p.Arg296Gln) single nucleotide variant GNPTG-mucolipidosis [RCV000390177]|not provided [RCV001248676]|not specified [RCV003488534] Chr16:1363060 [GRCh38]
Chr16:1413061 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032520.5(GNPTG):c.16G>T (p.Ala6Ser) single nucleotide variant GNPTG-mucolipidosis [RCV001277825]|not specified [RCV004699254] Chr16:1351981 [GRCh38]
Chr16:1401982 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.178+9G>C single nucleotide variant GNPTG-mucolipidosis [RCV001278354]|not provided [RCV002069426] Chr16:1352315 [GRCh38]
Chr16:1402316 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.436_446del (p.Asn146fs) deletion not provided [RCV000595548] Chr16:1362228..1362238 [GRCh38]
Chr16:1412229..1412239 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.204G>A (p.Ser68=) single nucleotide variant GNPTG-mucolipidosis [RCV001278356]|not provided [RCV001477384] Chr16:1361768 [GRCh38]
Chr16:1411769 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.373G>T (p.Asp125Tyr) single nucleotide variant GNPTG-mucolipidosis [RCV001278359] Chr16:1362093 [GRCh38]
Chr16:1412094 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.835T>G (p.Leu279Val) single nucleotide variant GNPTG-mucolipidosis [RCV000361307] Chr16:1363008 [GRCh38]
Chr16:1413009 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.4(GNPTG):c.-42G>C single nucleotide variant GNPTG-mucolipidosis [RCV000399367] Chr16:1351924 [GRCh38]
Chr16:1401925 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.4(GNPTG):c.-60C>T single nucleotide variant GNPTG-mucolipidosis [RCV000346164] Chr16:1351906 [GRCh38]
Chr16:1401907 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.6G>T (p.Ala2=) single nucleotide variant GNPTG-mucolipidosis [RCV000364026]|not provided [RCV001411925] Chr16:1351971 [GRCh38]
Chr16:1401972 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032520.5(GNPTG):c.264C>T (p.Asn88=) single nucleotide variant GNPTG-mucolipidosis [RCV000625460]|not provided [RCV000880814]|not specified [RCV001701136] Chr16:1361902 [GRCh38]
Chr16:1411903 [GRCh37]
Chr16:16p13.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_032520.5(GNPTG):c.*205T>C single nucleotide variant GNPTG-mucolipidosis [RCV000327817] Chr16:1363296 [GRCh38]
Chr16:1413297 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.4(GNPTG):c.-72G>C single nucleotide variant GNPTG-mucolipidosis [RCV000302396]|not provided [RCV001709645] Chr16:1351894 [GRCh38]
Chr16:1401895 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_032520.5(GNPTG):c.318-1G>A single nucleotide variant GNPTG-mucolipidosis [RCV000667666]|not provided [RCV000523035] Chr16:1362037 [GRCh38]
Chr16:1412038 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_032520.5(GNPTG):c.233+5G>A single nucleotide variant GNPTG-mucolipidosis [RCV000449522] Chr16:1361802 [GRCh38]
Chr16:1411803 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter) single nucleotide variant GNPTG-mucolipidosis [RCV000449610]|Mucolipidosis [RCV000825527] Chr16:1362044 [GRCh38]
Chr16:1412045 [GRCh37]
Chr16:16p13.3		 likely pathogenic
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
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.376G>C (p.Gly126Arg) single nucleotide variant not provided [RCV000498870] Chr16:1362096 [GRCh38]
Chr16:1412097 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.4(GNPTG):c.499dup (p.Leu167Profs) duplication GNPTG-mucolipidosis [RCV000502548]|not provided [RCV001070439] Chr16:1362287..1362288 [GRCh38]
Chr16:1412288..1412289 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 copy number gain See cases [RCV000510815] Chr16:643377..3125125 [GRCh37]
Chr16:16p13.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
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
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
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
NM_032520.5(GNPTG):c.293G>A (p.Trp98Ter) single nucleotide variant GNPTG-mucolipidosis [RCV004776288]|not provided [RCV000513614] Chr16:1361931 [GRCh38]
Chr16:1411932 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance
NM_032520.5(GNPTG):c.609+1G>C single nucleotide variant GNPTG-mucolipidosis [RCV000664681] Chr16:1362535 [GRCh38]
Chr16:1412536 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.233+1G>T single nucleotide variant GNPTG-mucolipidosis [RCV000673356] Chr16:1361798 [GRCh38]
Chr16:1411799 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.5CGG[1] (p.Ala3del) microsatellite GNPTG-mucolipidosis [RCV000670845]|not provided [RCV001071856] Chr16:1351968..1351970 [GRCh38]
Chr16:1401969..1401971 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.233+1G>C single nucleotide variant not provided [RCV000658729] Chr16:1361798 [GRCh38]
Chr16:1411799 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_032520.5(GNPTG):c.238_243del (p.Lys80_Tyr81del) deletion GNPTG-mucolipidosis [RCV000664893]|not provided [RCV001037602] Chr16:1361876..1361881 [GRCh38]
Chr16:1411877..1411882 [GRCh37]
Chr16:16p13.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_032520.5(GNPTG):c.204G>C (p.Ser68=) single nucleotide variant not provided [RCV000675970] Chr16:1361768 [GRCh38]
Chr16:1411769 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.233+2T>A single nucleotide variant GNPTG-mucolipidosis [RCV000671921] Chr16:1361799 [GRCh38]
Chr16:1411800 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.234-1G>A single nucleotide variant GNPTG-mucolipidosis [RCV000671790]|not provided [RCV001388643] Chr16:1361871 [GRCh38]
Chr16:1411872 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_032520.5(GNPTG):c.179-28C>G single nucleotide variant not provided [RCV000675969] Chr16:1361715 [GRCh38]
Chr16:1411716 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.557G>A (p.Arg186Gln) single nucleotide variant GNPTG-mucolipidosis [RCV000665242]|not provided [RCV001340976] Chr16:1362482 [GRCh38]
Chr16:1412483 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter) single nucleotide variant GNPTG-mucolipidosis [RCV000673912]|not provided [RCV000804527] Chr16:1351994 [GRCh38]
Chr16:1401995 [GRCh37]
Chr16:16p13.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_032520.5(GNPTG):c.7G>A (p.Ala3Thr) single nucleotide variant GNPTG-mucolipidosis [RCV000665343]|GNPTG-related disorder [RCV003965425]|not provided [RCV002530653]|not specified [RCV004768521] Chr16:1351972 [GRCh38]
Chr16:1401973 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.551_556del (p.Leu184_Gln185del) deletion GNPTG-mucolipidosis [RCV000668017]|not provided [RCV001861763] Chr16:1362475..1362480 [GRCh38]
Chr16:1412476..1412481 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.828_830dup (p.Ser277dup) duplication GNPTG-mucolipidosis [RCV000665458] Chr16:1362999..1363000 [GRCh38]
Chr16:1413000..1413001 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.574G>C (p.Glu192Gln) single nucleotide variant GNPTG-mucolipidosis [RCV000671632] Chr16:1362499 [GRCh38]
Chr16:1412500 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.853G>T (p.Glu285Ter) single nucleotide variant GNPTG-mucolipidosis [RCV000668502] Chr16:1363026 [GRCh38]
Chr16:1413027 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.53-2A>G single nucleotide variant GNPTG-mucolipidosis [RCV000666922]|not provided [RCV000816688] Chr16:1352100 [GRCh38]
Chr16:1402101 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.824-39_824-13del deletion GNPTG-mucolipidosis [RCV000672874] Chr16:1362950..1362976 [GRCh38]
Chr16:1412951..1412977 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.233+2T>C single nucleotide variant GNPTG-mucolipidosis [RCV000674626] Chr16:1361799 [GRCh38]
Chr16:1411800 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.2_4del (p.Met1_Ala2delinsThr) deletion GNPTG-mucolipidosis [RCV000673511] Chr16:1351967..1351969 [GRCh38]
Chr16:1401968..1401970 [GRCh37]
Chr16:16p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_032520.5(GNPTG):c.751G>T (p.Glu251Ter) single nucleotide variant GNPTG-mucolipidosis [RCV000673731]|not provided [RCV003660829] Chr16:1362834 [GRCh38]
Chr16:1412835 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_032520.5(GNPTG):c.868A>T (p.Lys290Ter) single nucleotide variant GNPTG-mucolipidosis [RCV000665208] Chr16:1363041 [GRCh38]
Chr16:1413042 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.867_880del (p.Lys290fs) deletion GNPTG-mucolipidosis [RCV000670236] Chr16:1363033..1363046 [GRCh38]
Chr16:1413034..1413047 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.233+1G>A single nucleotide variant GNPTG-mucolipidosis [RCV000667524]|not provided [RCV000815845] Chr16:1361798 [GRCh38]
Chr16:1411799 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_032520.5(GNPTG):c.893_894del (p.Asp298fs) deletion GNPTG-mucolipidosis [RCV000667594] Chr16:1363066..1363067 [GRCh38]
Chr16:1413067..1413068 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.836T>A (p.Leu279Ter) single nucleotide variant GNPTG-mucolipidosis [RCV000674287] Chr16:1363009 [GRCh38]
Chr16:1413010 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.178+2T>C single nucleotide variant GNPTG-mucolipidosis [RCV000667645]|not provided [RCV002530718] Chr16:1352308 [GRCh38]
Chr16:1402309 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.685del (p.Gln229fs) deletion GNPTG-mucolipidosis [RCV000672939] Chr16:1362684 [GRCh38]
Chr16:1412685 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.823+1G>T single nucleotide variant GNPTG-mucolipidosis [RCV000674922] Chr16:1362907 [GRCh38]
Chr16:1412908 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.110+1G>A single nucleotide variant GNPTG-mucolipidosis [RCV000671760]|not provided [RCV001861807] Chr16:1352160 [GRCh38]
Chr16:1402161 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.318-5C>A single nucleotide variant not provided [RCV000675971] Chr16:1362033 [GRCh38]
Chr16:1412034 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.742-1G>T single nucleotide variant GNPTG-mucolipidosis [RCV000668332]|not provided [RCV001855495] Chr16:1362824 [GRCh38]
Chr16:1412825 [GRCh37]
Chr16:16p13.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_032520.5(GNPTG):c.750dup (p.Glu251fs) duplication GNPTG-mucolipidosis [RCV000668501]|not provided [RCV002531201] Chr16:1362830..1362831 [GRCh38]
Chr16:1412831..1412832 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.93G>C (p.Glu31Asp) single nucleotide variant GNPTG-mucolipidosis [RCV000665104]|not provided [RCV000891925] Chr16:1352142 [GRCh38]
Chr16:1402143 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.607dup (p.Gln203fs) duplication GNPTG-mucolipidosis [RCV000668554]|Rod-cone dystrophy [RCV003106016]|not provided [RCV001055708] Chr16:1362526..1362527 [GRCh38]
Chr16:1412527..1412528 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_032520.5(GNPTG):c.868_869del (p.Lys290fs) deletion GNPTG-mucolipidosis [RCV000674195] Chr16:1363041..1363042 [GRCh38]
Chr16:1413042..1413043 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.388C>T (p.Arg130Cys) single nucleotide variant GNPTG-mucolipidosis [RCV000666453]|not provided [RCV001855461] Chr16:1362108 [GRCh38]
Chr16:1412109 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.814_816del (p.Arg272del) deletion GNPTG-mucolipidosis [RCV000669091] Chr16:1362896..1362898 [GRCh38]
Chr16:1412897..1412899 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.74C>G (p.Ala25Gly) single nucleotide variant GNPTG-mucolipidosis [RCV000664475]|not provided [RCV002530627] Chr16:1352123 [GRCh38]
Chr16:1402124 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.880C>T (p.Gln294Ter) single nucleotide variant GNPTG-mucolipidosis [RCV000674510]|not provided [RCV001364027] Chr16:1363053 [GRCh38]
Chr16:1413054 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.660_671del (p.Thr221_Glu224del) deletion GNPTG-mucolipidosis [RCV000666797] Chr16:1362660..1362671 [GRCh38]
Chr16:1412661..1412672 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-1875694)x1 copy number loss not provided [RCV000683741] Chr16:85880..1875694 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 copy number gain not provided [RCV000683742] Chr16:85880..3216551 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1498731)x1 copy number loss not provided [RCV000683740] Chr16:85880..1498731 [GRCh37]
Chr16:16p13.3		 pathogenic
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_032520.5(GNPTG):c.665C>G (p.Pro222Arg) single nucleotide variant GNPTG-mucolipidosis [RCV001273765]|not provided [RCV001051874] Chr16:1362666 [GRCh38]
Chr16:1412667 [GRCh37]
Chr16:16p13.3		 uncertain significance
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
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(chr16:1383327-1497403)x3 copy number gain not provided [RCV000751508] Chr16:1383327..1497403 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:1397815-1499377)x3 copy number gain not provided [RCV000751509] Chr16:1397815..1499377 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:61451-1593645)x1 copy number loss not provided [RCV000751445] Chr16:61451..1593645 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.178+186C>T single nucleotide variant not provided [RCV001707212] Chr16:1352492 [GRCh38]
Chr16:1402493 [GRCh37]
Chr16:16p13.3		 benign
NM_032520.5(GNPTG):c.186G>A (p.Val62=) single nucleotide variant not provided [RCV000979345] Chr16:1361750 [GRCh38]
Chr16:1411751 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.588C>T (p.Ala196=) single nucleotide variant not provided [RCV000977609] Chr16:1362513 [GRCh38]
Chr16:1412514 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.372G>A (p.Arg124=) single nucleotide variant not provided [RCV000976465] Chr16:1362092 [GRCh38]
Chr16:1412093 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.834C>T (p.Asn278=) single nucleotide variant not provided [RCV000944880] Chr16:1363007 [GRCh38]
Chr16:1413008 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.537C>A (p.Thr179=) single nucleotide variant not provided [RCV000943900] Chr16:1362462 [GRCh38]
Chr16:1412463 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.814A>G (p.Arg272Gly) single nucleotide variant GNPTG-mucolipidosis [RCV001276185]|GNPTG-related disorder [RCV003940700]|not provided [RCV000891982] Chr16:1362897 [GRCh38]
Chr16:1412898 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.684C>G (p.Thr228=) single nucleotide variant GNPTG-mucolipidosis [RCV001273766]|GNPTG-related disorder [RCV003960524]|not provided [RCV000936662] Chr16:1362685 [GRCh38]
Chr16:1412686 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.910A>G (p.Ser304Gly) single nucleotide variant GNPTG-mucolipidosis [RCV001116738]|not provided [RCV000967710] Chr16:1363083 [GRCh38]
Chr16:1413084 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_032520.5(GNPTG):c.486G>A (p.Thr162=) single nucleotide variant GNPTG-mucolipidosis [RCV001278360]|not provided [RCV000972902] Chr16:1362280 [GRCh38]
Chr16:1412281 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.45G>T (p.Ser15=) single nucleotide variant not provided [RCV000921952] Chr16:1352010 [GRCh38]
Chr16:1402011 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.233+7G>T single nucleotide variant GNPTG-mucolipidosis [RCV001273753]|not provided [RCV000968639] Chr16:1361804 [GRCh38]
Chr16:1411805 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_032520.5(GNPTG):c.744T>G (p.Ala248=) single nucleotide variant not provided [RCV000921284] Chr16:1362827 [GRCh38]
Chr16:1412828 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.477C>T (p.Tyr159=) single nucleotide variant GNPTG-mucolipidosis [RCV001273759]|not provided [RCV000943459] Chr16:1362271 [GRCh38]
Chr16:1412272 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_032520.5(GNPTG):c.360C>A (p.Gly120=) single nucleotide variant not provided [RCV000927077] Chr16:1362080 [GRCh38]
Chr16:1412081 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.289C>T (p.Arg97Cys) single nucleotide variant GNPTG-mucolipidosis [RCV001273754]|not provided [RCV001037496] Chr16:1361927 [GRCh38]
Chr16:1411928 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.154A>G (p.Lys52Glu) single nucleotide variant not provided [RCV001043859] Chr16:1352282 [GRCh38]
Chr16:1402283 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.166T>A (p.Ser56Thr) single nucleotide variant GNPTG-mucolipidosis [RCV001832421]|not provided [RCV001044233] Chr16:1352294 [GRCh38]
Chr16:1402295 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.538C>G (p.Leu180Val) single nucleotide variant GNPTG-mucolipidosis [RCV001827271]|not provided [RCV001044265] Chr16:1362463 [GRCh38]
Chr16:1412464 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.472G>A (p.Val158Ile) single nucleotide variant GNPTG-mucolipidosis [RCV001273758]|not provided [RCV001041991] Chr16:1362266 [GRCh38]
Chr16:1412267 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.145C>T (p.Leu49Phe) single nucleotide variant GNPTG-mucolipidosis [RCV001833640]|not provided [RCV001065864] Chr16:1352273 [GRCh38]
Chr16:1402274 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.527-4_532del deletion not provided [RCV001048300] Chr16:1362446..1362455 [GRCh38]
Chr16:1412447..1412456 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.376G>A (p.Gly126Ser) single nucleotide variant not provided [RCV001043650] Chr16:1362096 [GRCh38]
Chr16:1412097 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.450T>G (p.His150Gln) single nucleotide variant GNPTG-mucolipidosis [RCV001830937]|GNPTG-related disorder [RCV003940513]|not provided [RCV000884957] Chr16:1362244 [GRCh38]
Chr16:1412245 [GRCh37]
Chr16:16p13.3		 benign
NM_032520.5(GNPTG):c.597G>C (p.Leu199=) single nucleotide variant GNPTG-mucolipidosis [RCV001273760]|not provided [RCV000917369] Chr16:1362522 [GRCh38]
Chr16:1412523 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.824-6del deletion not provided [RCV000919964] Chr16:1362988 [GRCh38]
Chr16:1412989 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.42C>T (p.Leu14=) single nucleotide variant GNPTG-mucolipidosis [RCV001119139]|not provided [RCV000931614] Chr16:1352007 [GRCh38]
Chr16:1402008 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032520.5(GNPTG):c.48C>T (p.Ala16=) single nucleotide variant GNPTG-mucolipidosis [RCV001273750]|not provided [RCV000915116] Chr16:1352013 [GRCh38]
Chr16:1402014 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.339C>T (p.Ile113=) single nucleotide variant GNPTG-mucolipidosis [RCV001273756]|GNPTG-related disorder [RCV003913192]|not provided [RCV000943705] Chr16:1362059 [GRCh38]
Chr16:1412060 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.246G>A (p.Glu82=) single nucleotide variant not provided [RCV000896539] Chr16:1361884 [GRCh38]
Chr16:1411885 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.339C>A (p.Ile113=) single nucleotide variant GNPTG-mucolipidosis [RCV001273755]|not provided [RCV000899523] Chr16:1362059 [GRCh38]
Chr16:1412060 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.642G>A (p.Glu214=) single nucleotide variant GNPTG-mucolipidosis [RCV001273763]|not provided [RCV000942251] Chr16:1362643 [GRCh38]
Chr16:1412644 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.327C>T (p.His109=) single nucleotide variant not provided [RCV000930272] Chr16:1362047 [GRCh38]
Chr16:1412048 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.412-10C>T single nucleotide variant not provided [RCV000939068] Chr16:1362196 [GRCh38]
Chr16:1412197 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.479C>T (p.Ala160Val) single nucleotide variant GNPTG-mucolipidosis [RCV001832067]|not provided [RCV000915776] Chr16:1362273 [GRCh38]
Chr16:1412274 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NC_000016.10:g.1362748G>A single nucleotide variant not provided [RCV000842691] Chr16:1412749 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.9:g.(?_624055)_(2115656_?)del deletion Tuberous sclerosis 2 [RCV000811345] Chr16:624055..2115656 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-2053328)x1 copy number loss not provided [RCV000849039] Chr16:85880..2053328 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.806C>A (p.Pro269His) single nucleotide variant GNPTG-mucolipidosis [RCV001825578]|not provided [RCV000799973] Chr16:1362889 [GRCh38]
Chr16:1412890 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.758C>A (p.Ser253Ter) single nucleotide variant GNPTG-mucolipidosis [RCV001800894]|not provided [RCV001045343]|not specified [RCV000825344] Chr16:1362841 [GRCh38]
Chr16:1412842 [GRCh37]
Chr16:16p13.3		 pathogenic|uncertain significance
NM_032520.5(GNPTG):c.178+1G>A single nucleotide variant Mucolipidosis [RCV000825528] Chr16:1352307 [GRCh38]
Chr16:1402308 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NC_000016.10:g.(?_1351956)_(1363101_?)del deletion not provided [RCV000823977] Chr16:1351956..1363101 [GRCh38]
Chr16:1401957..1413102 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.11G>C (p.Gly4Ala) single nucleotide variant GNPTG-mucolipidosis [RCV001119137]|not provided [RCV001247333] Chr16:1351976 [GRCh38]
Chr16:1401977 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.8C>T (p.Ala3Val) single nucleotide variant GNPTG-mucolipidosis [RCV001119136]|not provided [RCV000815830] Chr16:1351973 [GRCh38]
Chr16:1401974 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.660G>A (p.Lys220=) single nucleotide variant GNPTG-mucolipidosis [RCV001273764]|not provided [RCV000979056] Chr16:1362661 [GRCh38]
Chr16:1412662 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.138C>T (p.Ala46=) single nucleotide variant GNPTG-mucolipidosis [RCV001273751]|not provided [RCV000918382] Chr16:1352266 [GRCh38]
Chr16:1402267 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.233+9A>T single nucleotide variant GNPTG-related disorder [RCV003933209]|not provided [RCV000940726] Chr16:1361806 [GRCh38]
Chr16:1411807 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.772del (p.Arg258fs) deletion not provided [RCV001054649] Chr16:1362852 [GRCh38]
Chr16:1412853 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.233+4_233+14del deletion not provided [RCV001052323] Chr16:1361798..1361808 [GRCh38]
Chr16:1411799..1411809 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.183C>T (p.Pro61=) single nucleotide variant GNPTG-mucolipidosis [RCV001273752]|GNPTG-related disorder [RCV003960523]|not provided [RCV000936661] Chr16:1361747 [GRCh38]
Chr16:1411748 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:85880-1468459)x1 copy number loss not provided [RCV000848130] Chr16:85880..1468459 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.916_*7del (p.Ter306ValextTer?) deletion not provided [RCV001052214] Chr16:1363087..1363096 [GRCh38]
Chr16:1413088..1413097 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.773G>A (p.Arg258Lys) single nucleotide variant GNPTG-mucolipidosis [RCV001828858]|not provided [RCV001233493] Chr16:1362856 [GRCh38]
Chr16:1412857 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.318-10G>A single nucleotide variant GNPTG-mucolipidosis [RCV001828923]|not provided [RCV001239542] Chr16:1362028 [GRCh38]
Chr16:1412029 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.26T>C (p.Leu9Pro) single nucleotide variant not provided [RCV001239708] Chr16:1351991 [GRCh38]
Chr16:1401992 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.53-10del deletion not provided [RCV001239709] Chr16:1352092 [GRCh38]
Chr16:1402093 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.233C>T (p.Thr78Met) single nucleotide variant GNPTG-mucolipidosis [RCV001828944]|not provided [RCV001239883] Chr16:1361797 [GRCh38]
Chr16:1411798 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.802A>C (p.Ile268Leu) single nucleotide variant GNPTG-mucolipidosis [RCV001828957]|not provided [RCV001240661] Chr16:1362885 [GRCh38]
Chr16:1412886 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.22C>T (p.Leu8Phe) single nucleotide variant GNPTG-mucolipidosis [RCV001835286]|not provided [RCV001246996] Chr16:1351987 [GRCh38]
Chr16:1401988 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.318-28_351del deletion GNPTG-mucolipidosis [RCV001175118]|not provided [RCV001875771] Chr16:1362009..1362070 [GRCh38]
Chr16:1412010..1412071 [GRCh37]
Chr16:16p13.3		 pathogenic|likely pathogenic
NM_032520.5(GNPTG):c.837G>A (p.Leu279=) single nucleotide variant GNPTG-mucolipidosis [RCV001121614]|not provided [RCV001243901] Chr16:1363010 [GRCh38]
Chr16:1413011 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.234-8G>T single nucleotide variant GNPTG-mucolipidosis [RCV001118078]|not provided [RCV001407814] Chr16:1361864 [GRCh38]
Chr16:1411865 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032520.5(GNPTG):c.*165A>T single nucleotide variant GNPTG-mucolipidosis [RCV001118185] Chr16:1363256 [GRCh38]
Chr16:1413257 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.798C>G (p.His266Gln) single nucleotide variant GNPTG-mucolipidosis [RCV001835294]|not provided [RCV001247285] Chr16:1362881 [GRCh38]
Chr16:1412882 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.-28G>A single nucleotide variant GNPTG-mucolipidosis [RCV001119135] Chr16:1351938 [GRCh38]
Chr16:1401939 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.52+5G>C single nucleotide variant GNPTG-mucolipidosis [RCV001119140] Chr16:1352022 [GRCh38]
Chr16:1402023 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.838G>A (p.Glu280Lys) single nucleotide variant GNPTG-mucolipidosis [RCV001116737] Chr16:1363011 [GRCh38]
Chr16:1413012 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.271C>T (p.Gln91Ter) single nucleotide variant not provided [RCV001230330] Chr16:1361909 [GRCh38]
Chr16:1411910 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.562T>C (p.Trp188Arg) single nucleotide variant GNPTG-mucolipidosis [RCV001119621] Chr16:1362487 [GRCh38]
Chr16:1412488 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.659_664dup (p.Thr221_Pro222insGlnThr) duplication not provided [RCV003105175] Chr16:1362659..1362660 [GRCh38]
Chr16:1412660..1412661 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.318-34C>T single nucleotide variant not provided [RCV001597342] Chr16:1362004 [GRCh38]
Chr16:1412005 [GRCh37]
Chr16:16p13.3		 benign
NM_032520.5(GNPTG):c.603C>T (p.Thr201=) single nucleotide variant GNPTG-mucolipidosis [RCV001273761]|GNPTG-related disorder [RCV003968274]|not provided [RCV000902917] Chr16:1362528 [GRCh38]
Chr16:1412529 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.609+7G>A single nucleotide variant GNPTG-mucolipidosis [RCV001278361]|not provided [RCV000909941] Chr16:1362541 [GRCh38]
Chr16:1412542 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.609+10C>T single nucleotide variant GNPTG-mucolipidosis [RCV001273762]|not provided [RCV000941526] Chr16:1362544 [GRCh38]
Chr16:1412545 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.423G>A (p.Ala141=) single nucleotide variant not provided [RCV000975885] Chr16:1362217 [GRCh38]
Chr16:1412218 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.903G>A (p.Leu301=) single nucleotide variant GNPTG-mucolipidosis [RCV001274308]|GNPTG-related disorder [RCV003903033]|not provided [RCV000923801] Chr16:1363076 [GRCh38]
Chr16:1413077 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.45G>C (p.Ser15=) single nucleotide variant not provided [RCV000976229] Chr16:1352010 [GRCh38]
Chr16:1402011 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.768C>A (p.Ile256=) single nucleotide variant not provided [RCV000983042] Chr16:1362851 [GRCh38]
Chr16:1412852 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.28T>C (p.Leu10=) single nucleotide variant GNPTG-mucolipidosis [RCV001276183]|not provided [RCV000887801] Chr16:1351993 [GRCh38]
Chr16:1401994 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.258C>T (p.Phe86=) single nucleotide variant not provided [RCV000933465] Chr16:1361896 [GRCh38]
Chr16:1411897 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.9:g.(?_624055)_(2550979_?)dup duplication Idiopathic generalized epilepsy [RCV001033790] Chr16:624055..2550979 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.551T>A (p.Leu184Gln) single nucleotide variant GNPTG-mucolipidosis [RCV001835122]|not provided [RCV001242269] Chr16:1362476 [GRCh38]
Chr16:1412477 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.130C>G (p.Pro44Ala) single nucleotide variant GNPTG-mucolipidosis [RCV001834076]|Inborn genetic diseases [RCV004034600]|not provided [RCV001239187] Chr16:1352258 [GRCh38]
Chr16:1402259 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.302A>G (p.Tyr101Cys) single nucleotide variant not provided [RCV001242535] Chr16:1361940 [GRCh38]
Chr16:1411941 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.254C>T (p.Pro85Leu) single nucleotide variant GNPTG-mucolipidosis [RCV001835241]|not provided [RCV001245449] Chr16:1361892 [GRCh38]
Chr16:1411893 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.161A>T (p.Asp54Val) single nucleotide variant GNPTG-mucolipidosis [RCV001835342]|GNPTG-related disorder [RCV004758152]|not provided [RCV001248677] Chr16:1352289 [GRCh38]
Chr16:1402290 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.*34G>A single nucleotide variant GNPTG-mucolipidosis [RCV001116740] Chr16:1363125 [GRCh38]
Chr16:1413126 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.366G>C (p.Trp122Cys) single nucleotide variant GNPTG-mucolipidosis [RCV001276184]|not provided [RCV001064339] Chr16:1362086 [GRCh38]
Chr16:1412087 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.805C>T (p.Pro269Ser) single nucleotide variant not provided [RCV001237920] Chr16:1362888 [GRCh38]
Chr16:1412889 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.412-8C>G single nucleotide variant not provided [RCV000957356] Chr16:1362198 [GRCh38]
Chr16:1412199 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.13C>T (p.Leu5=) single nucleotide variant GNPTG-mucolipidosis [RCV001273748]|not provided [RCV000935648] Chr16:1351978 [GRCh38]
Chr16:1401979 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.901C>T (p.Leu301=) single nucleotide variant GNPTG-mucolipidosis [RCV001274307]|not provided [RCV000913314] Chr16:1363074 [GRCh38]
Chr16:1413075 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.516C>T (p.His172=) single nucleotide variant not provided [RCV000912245] Chr16:1362310 [GRCh38]
Chr16:1412311 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.597G>T (p.Leu199=) single nucleotide variant not provided [RCV000913597] Chr16:1362522 [GRCh38]
Chr16:1412523 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.510C>T (p.His170=) single nucleotide variant GNPTG-mucolipidosis [RCV001119620]|not provided [RCV000889480] Chr16:1362304 [GRCh38]
Chr16:1412305 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032520.5(GNPTG):c.765G>A (p.Glu255=) single nucleotide variant GNPTG-mucolipidosis [RCV001832060]|not provided [RCV000913833] Chr16:1362848 [GRCh38]
Chr16:1412849 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.58G>A (p.Ala20Thr) single nucleotide variant GNPTG-mucolipidosis [RCV001832518]|not provided [RCV001057254] Chr16:1352107 [GRCh38]
Chr16:1402108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.10:g.1351844C>G single nucleotide variant not provided [RCV001716363] Chr16:1351844 [GRCh38]
Chr16:1401845 [GRCh37]
Chr16:16p13.3		 benign
NM_032520.5(GNPTG):c.53-10C>A single nucleotide variant GNPTG-mucolipidosis [RCV001836106]|not provided [RCV001067567] Chr16:1352092 [GRCh38]
Chr16:1402093 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.440G>A (p.Arg147Gln) single nucleotide variant GNPTG-mucolipidosis [RCV001273757]|not provided [RCV001061966] Chr16:1362234 [GRCh38]
Chr16:1412235 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.658A>T (p.Lys220Ter) single nucleotide variant GNPTG-mucolipidosis [RCV001174527] Chr16:1362659 [GRCh38]
Chr16:1412660 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.113T>C (p.Val38Ala) single nucleotide variant GNPTG-mucolipidosis [RCV001827451]|not provided [RCV001068525] Chr16:1352241 [GRCh38]
Chr16:1402242 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_624055)_(2148005_?)del deletion Tuberous sclerosis 2 [RCV001033183] Chr16:624055..2148005 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.*62G>A single nucleotide variant GNPTG-mucolipidosis [RCV001116741] Chr16:1363153 [GRCh38]
Chr16:1413154 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.295A>G (p.Asn99Asp) single nucleotide variant GNPTG-mucolipidosis [RCV001833860]|Inborn genetic diseases [RCV004033852]|not provided [RCV001212319] Chr16:1361933 [GRCh38]
Chr16:1411934 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.877G>A (p.Glu293Lys) single nucleotide variant GNPTG-mucolipidosis [RCV001828696]|not provided [RCV001212831] Chr16:1363050 [GRCh38]
Chr16:1413051 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.297C>T (p.Asn99=) single nucleotide variant GNPTG-mucolipidosis [RCV001118079]|not provided [RCV001427064] Chr16:1361935 [GRCh38]
Chr16:1411936 [GRCh37]
Chr16:16p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032520.5(GNPTG):c.*233C>T single nucleotide variant GNPTG-mucolipidosis [RCV001118186] Chr16:1363324 [GRCh38]
Chr16:1413325 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.411+4G>A single nucleotide variant GNPTG-mucolipidosis [RCV001836088]|not provided [RCV001050963] Chr16:1362135 [GRCh38]
Chr16:1412136 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.23T>A (p.Leu8His) single nucleotide variant GNPTG-mucolipidosis [RCV001119138]|not provided [RCV001856564] Chr16:1351988 [GRCh38]
Chr16:1401989 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.221TGG[1] (p.Val75del) microsatellite not provided [RCV001907563] Chr16:1361785..1361787 [GRCh38]
Chr16:1411786..1411788 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.478_479insTAGG (p.Ala160fs) insertion GNPTG-mucolipidosis [RCV001780169]|not provided [RCV001233949] Chr16:1362271..1362272 [GRCh38]
Chr16:1412272..1412273 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.52+3G>C single nucleotide variant GNPTG-mucolipidosis [RCV001832387]|not provided [RCV001038196] Chr16:1352020 [GRCh38]
Chr16:1402021 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.344A>C (p.Asn115Thr) single nucleotide variant GNPTG-mucolipidosis [RCV001833822]|not provided [RCV001207224] Chr16:1362064 [GRCh38]
Chr16:1412065 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.32T>C (p.Leu11Pro) single nucleotide variant GNPTG-mucolipidosis [RCV001273749]|not provided [RCV001066324] Chr16:1351997 [GRCh38]
Chr16:1401998 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.714del (p.Phe239fs) deletion not provided [RCV001068377] Chr16:1362712 [GRCh38]
Chr16:1412713 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.110+1G>C single nucleotide variant GNPTG-mucolipidosis [RCV001175119] Chr16:1352160 [GRCh38]
Chr16:1402161 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.740A>G (p.Lys247Arg) single nucleotide variant GNPTG-mucolipidosis [RCV001121613] Chr16:1362741 [GRCh38]
Chr16:1412742 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.365G>A (p.Trp122Ter) single nucleotide variant not provided [RCV001036924] Chr16:1362085 [GRCh38]
Chr16:1412086 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.479C>A (p.Ala160Glu) single nucleotide variant GNPTG-mucolipidosis [RCV001119619]|not provided [RCV001239947] Chr16:1362273 [GRCh38]
Chr16:1412274 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.371G>T (p.Arg124Met) single nucleotide variant not provided [RCV001040655] Chr16:1362091 [GRCh38]
Chr16:1412092 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.160G>A (p.Asp54Asn) single nucleotide variant GNPTG-mucolipidosis [RCV001121128] Chr16:1352288 [GRCh38]
Chr16:1402289 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_1203718)_(2185710_?)del deletion Tuberous sclerosis 2 [RCV001033886] Chr16:1203718..2185710 [GRCh37]
Chr16:16p13.3		 pathogenic
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(chr16:1233996-1509217)x3 copy number gain not provided [RCV001259760] Chr16:1233996..1509217 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.-10C>A single nucleotide variant GNPTG-mucolipidosis [RCV001277822]|GNPTG-related disorder [RCV003908488] Chr16:1351956 [GRCh38]
Chr16:1401957 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.52+11del deletion GNPTG-mucolipidosis [RCV001277826] Chr16:1352026 [GRCh38]
Chr16:1402027 [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_032520.5(GNPTG):c.421G>A (p.Ala141Thr) single nucleotide variant GNPTG-mucolipidosis [RCV001831033]|not provided [RCV001327549] Chr16:1362215 [GRCh38]
Chr16:1412216 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.478G>A (p.Ala160Thr) single nucleotide variant GNPTG-mucolipidosis [RCV001836319]|not provided [RCV001327624] Chr16:1362272 [GRCh38]
Chr16:1412273 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.823+5G>C single nucleotide variant not provided [RCV001298979] Chr16:1362911 [GRCh38]
Chr16:1412912 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.276C>G (p.His92Gln) single nucleotide variant GNPTG-mucolipidosis [RCV001835459]|not provided [RCV001302926] Chr16:1361914 [GRCh38]
Chr16:1411915 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.494C>G (p.Thr165Ser) single nucleotide variant not provided [RCV001351386] Chr16:1362288 [GRCh38]
Chr16:1412289 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.641A>G (p.Glu214Gly) single nucleotide variant not provided [RCV001313661] Chr16:1362642 [GRCh38]
Chr16:1412643 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.698G>T (p.Gly233Val) single nucleotide variant not provided [RCV001304773] Chr16:1362699 [GRCh38]
Chr16:1412700 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.532C>T (p.Pro178Ser) single nucleotide variant GNPTG-mucolipidosis [RCV001836378]|not provided [RCV001372674] Chr16:1362457 [GRCh38]
Chr16:1412458 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.84G>A (p.Lys28=) single nucleotide variant GNPTG-mucolipidosis [RCV001278352]|not provided [RCV001491664] Chr16:1352133 [GRCh38]
Chr16:1402134 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.614A>G (p.His205Arg) single nucleotide variant not provided [RCV001368850] Chr16:1362615 [GRCh38]
Chr16:1412616 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.844T>C (p.Leu282=) single nucleotide variant not provided [RCV001414489] Chr16:1363017 [GRCh38]
Chr16:1413018 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.504C>G (p.Val168=) single nucleotide variant not provided [RCV001396773] Chr16:1362298 [GRCh38]
Chr16:1412299 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.823G>C (p.Glu275Gln) single nucleotide variant GNPTG-mucolipidosis [RCV001826093]|not provided [RCV001370754] Chr16:1362906 [GRCh38]
Chr16:1412907 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.66A>G (p.Ala22=) single nucleotide variant not provided [RCV001421453] Chr16:1352115 [GRCh38]
Chr16:1402116 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.490G>A (p.Glu164Lys) single nucleotide variant not provided [RCV001360036] Chr16:1362284 [GRCh38]
Chr16:1412285 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.615T>A (p.His205Gln) single nucleotide variant not provided [RCV001294376] Chr16:1362616 [GRCh38]
Chr16:1412617 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.218G>A (p.Ser73Asn) single nucleotide variant GNPTG-mucolipidosis [RCV003132388]|not provided [RCV001303068] Chr16:1361782 [GRCh38]
Chr16:1411783 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_1401957)_(1402317_?)del deletion not provided [RCV001382814] Chr16:1401957..1402317 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_1401373)_1412477del deletion not provided [RCV001382815]   pathogenic
NM_032520.5(GNPTG):c.234-6C>T single nucleotide variant GNPTG-mucolipidosis [RCV001831014]|not provided [RCV001326303] Chr16:1361866 [GRCh38]
Chr16:1411867 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.179-3C>T single nucleotide variant GNPTG-mucolipidosis [RCV001826005]|not provided [RCV001361018] Chr16:1361740 [GRCh38]
Chr16:1411741 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.631A>T (p.Thr211Ser) single nucleotide variant GNPTG-mucolipidosis [RCV001836342]|Inborn genetic diseases [RCV002547058]|not provided [RCV001346359] Chr16:1362632 [GRCh38]
Chr16:1412633 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.233+2dup duplication not provided [RCV001346424] Chr16:1361798..1361799 [GRCh38]
Chr16:1411799..1411800 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.264C>A (p.Asn88Lys) single nucleotide variant not provided [RCV001323977] Chr16:1361902 [GRCh38]
Chr16:1411903 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.843dup (p.His284fs) duplication GNPTG-mucolipidosis [RCV001825918]|not provided [RCV001345875] Chr16:1363015..1363016 [GRCh38]
Chr16:1413016..1413017 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.263A>G (p.Asn88Ser) single nucleotide variant GNPTG-mucolipidosis [RCV001831110]|not provided [RCV001344893] Chr16:1361901 [GRCh38]
Chr16:1411902 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.439C>T (p.Arg147Trp) single nucleotide variant GNPTG-mucolipidosis [RCV001831129]|not provided [RCV001346838] Chr16:1362233 [GRCh38]
Chr16:1412234 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.11G>A (p.Gly4Glu) single nucleotide variant GNPTG-mucolipidosis [RCV001277824]|not provided [RCV001572923] Chr16:1351976 [GRCh38]
Chr16:1401977 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.318C>T (p.Gly106=) single nucleotide variant GNPTG-mucolipidosis [RCV001278358]|not provided [RCV001880258] Chr16:1362038 [GRCh38]
Chr16:1412039 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.-4C>T single nucleotide variant GNPTG-mucolipidosis [RCV001277823] Chr16:1351962 [GRCh38]
Chr16:1401963 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.119A>G (p.Asn40Ser) single nucleotide variant GNPTG-mucolipidosis [RCV001825963]|not provided [RCV001350352] Chr16:1352247 [GRCh38]
Chr16:1402248 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.-2_9del (p.Met1fs) deletion not provided [RCV001347259] Chr16:1351958..1351968 [GRCh38]
Chr16:1401959..1401969 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.19C>T (p.Arg7Trp) single nucleotide variant GNPTG-mucolipidosis [RCV001830408]|not provided [RCV001339119] Chr16:1351984 [GRCh38]
Chr16:1401985 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.856A>G (p.Thr286Ala) single nucleotide variant Inborn genetic diseases [RCV004036233]|not provided [RCV001302255] Chr16:1363029 [GRCh38]
Chr16:1413030 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.591T>G (p.Asp197Glu) single nucleotide variant GNPTG-mucolipidosis [RCV001826089]|not provided [RCV001370527] Chr16:1362516 [GRCh38]
Chr16:1412517 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.327C>G (p.His109Gln) single nucleotide variant GNPTG-mucolipidosis [RCV001826113]|not provided [RCV001373200] Chr16:1362047 [GRCh38]
Chr16:1412048 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.683C>T (p.Thr228Ile) single nucleotide variant GNPTG-mucolipidosis [RCV001826069]|Inborn genetic diseases [RCV003284279]|not provided [RCV001368148] Chr16:1362684 [GRCh38]
Chr16:1412685 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.234G>A (p.Thr78=) single nucleotide variant not provided [RCV001304775] Chr16:1361872 [GRCh38]
Chr16:1411873 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.792_823+13dup duplication not provided [RCV001367589] Chr16:1362874..1362875 [GRCh38]
Chr16:1412875..1412876 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.63G>A (p.Pro21=) single nucleotide variant not provided [RCV001413686] Chr16:1352112 [GRCh38]
Chr16:1402113 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.94G>A (p.Glu32Lys) single nucleotide variant GNPTG-mucolipidosis [RCV001278353]|not provided [RCV001880257] Chr16:1352143 [GRCh38]
Chr16:1402144 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.203C>T (p.Ser68Leu) single nucleotide variant GNPTG-mucolipidosis [RCV001278355]|not provided [RCV002542893] Chr16:1361767 [GRCh38]
Chr16:1411768 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.269C>T (p.Thr90Ile) single nucleotide variant GNPTG-mucolipidosis [RCV001278357] Chr16:1361907 [GRCh38]
Chr16:1411908 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.233+18_233+29dup duplication not provided [RCV001327589] Chr16:1361814..1361815 [GRCh38]
Chr16:1411815..1411816 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.527-8G>A single nucleotide variant GNPTG-mucolipidosis [RCV001825993]|not provided [RCV001359228] Chr16:1362444 [GRCh38]
Chr16:1412445 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.828T>C (p.Thr276=) single nucleotide variant not provided [RCV001421484] Chr16:1363001 [GRCh38]
Chr16:1413002 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.33C>T (p.Leu11=) single nucleotide variant not provided [RCV001395081] Chr16:1351998 [GRCh38]
Chr16:1401999 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.9:g.(?_624055)_(2153916_?)dup duplication Epilepsy [RCV001344085]|Idiopathic generalized epilepsy [RCV001316565] Chr16:624055..2153916 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.105G>C (p.Ala35=) single nucleotide variant not provided [RCV001506962] Chr16:1352154 [GRCh38]
Chr16:1402155 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.27G>C (p.Leu9=) single nucleotide variant not provided [RCV001450692] Chr16:1351992 [GRCh38]
Chr16:1401993 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.456C>T (p.Ser152=) single nucleotide variant not provided [RCV001419899] Chr16:1362250 [GRCh38]
Chr16:1412251 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.862A>C (p.Arg288=) single nucleotide variant GNPTG-mucolipidosis [RCV001836413]|not provided [RCV001473493] Chr16:1363035 [GRCh38]
Chr16:1413036 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.234-10G>A single nucleotide variant not provided [RCV001462186] Chr16:1361862 [GRCh38]
Chr16:1411863 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.610-20C>G single nucleotide variant not provided [RCV001454201] Chr16:1362591 [GRCh38]
Chr16:1412592 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.36C>T (p.Leu12=) single nucleotide variant GNPTG-mucolipidosis [RCV001832644]|not provided [RCV001492457] Chr16:1352001 [GRCh38]
Chr16:1402002 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.858G>A (p.Thr286=) single nucleotide variant not provided [RCV001490995] Chr16:1363031 [GRCh38]
Chr16:1413032 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.396G>T (p.Arg132=) single nucleotide variant not provided [RCV001496836] Chr16:1362116 [GRCh38]
Chr16:1412117 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.636T>G (p.Leu212=) single nucleotide variant not provided [RCV001500336] Chr16:1362637 [GRCh38]
Chr16:1412638 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.57C>A (p.Pro19=) single nucleotide variant not provided [RCV001452200] Chr16:1352106 [GRCh38]
Chr16:1402107 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.21G>T (p.Arg7=) single nucleotide variant not provided [RCV001503066] Chr16:1351986 [GRCh38]
Chr16:1401987 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.381C>T (p.Asp127=) single nucleotide variant not provided [RCV001471629] Chr16:1362101 [GRCh38]
Chr16:1412102 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.540G>A (p.Leu180=) single nucleotide variant not provided [RCV001486925] Chr16:1362465 [GRCh38]
Chr16:1412466 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.456C>G (p.Ser152=) single nucleotide variant not provided [RCV001487233] Chr16:1362250 [GRCh38]
Chr16:1412251 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.627G>A (p.Leu209=) single nucleotide variant not provided [RCV001480530] Chr16:1362628 [GRCh38]
Chr16:1412629 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.412-17C>T single nucleotide variant not provided [RCV001513244] Chr16:1362189 [GRCh38]
Chr16:1412190 [GRCh37]
Chr16:16p13.3		 benign
NM_032520.5(GNPTG):c.24C>T (p.Leu8=) single nucleotide variant not provided [RCV001456055] Chr16:1351989 [GRCh38]
Chr16:1401990 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.89_90del (p.Val30fs) deletion not provided [RCV001388650] Chr16:1352137..1352138 [GRCh38]
Chr16:1402138..1402139 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.583C>T (p.Leu195=) single nucleotide variant not provided [RCV001491960] Chr16:1362508 [GRCh38]
Chr16:1412509 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.633A>G (p.Thr211=) single nucleotide variant not provided [RCV001493335] Chr16:1362634 [GRCh38]
Chr16:1412635 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.504C>T (p.Val168=) single nucleotide variant not provided [RCV001481639] Chr16:1362298 [GRCh38]
Chr16:1412299 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.53-5C>T single nucleotide variant not provided [RCV001501443] Chr16:1352097 [GRCh38]
Chr16:1402098 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.63G>C (p.Pro21=) single nucleotide variant not provided [RCV001486371] Chr16:1352112 [GRCh38]
Chr16:1402113 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.527-8G>C single nucleotide variant not provided [RCV001401666] Chr16:1362444 [GRCh38]
Chr16:1412445 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.439C>A (p.Arg147=) single nucleotide variant not provided [RCV001437008] Chr16:1362233 [GRCh38]
Chr16:1412234 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.531C>T (p.Tyr177=) single nucleotide variant not provided [RCV001438387] Chr16:1362456 [GRCh38]
Chr16:1412457 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.717del (p.Phe239fs) deletion not provided [RCV001388001] Chr16:1362716 [GRCh38]
Chr16:1412717 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.600C>T (p.Ile200=) single nucleotide variant not provided [RCV001443327] Chr16:1362525 [GRCh38]
Chr16:1412526 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.756C>T (p.Leu252=) single nucleotide variant not provided [RCV001409393] Chr16:1362839 [GRCh38]
Chr16:1412840 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.110+9C>T single nucleotide variant not provided [RCV001443772] Chr16:1352168 [GRCh38]
Chr16:1402169 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.556C>A (p.Arg186=) single nucleotide variant not provided [RCV001430170] Chr16:1362481 [GRCh38]
Chr16:1412482 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.665dup (p.Glu223fs) duplication not provided [RCV001384810] Chr16:1362662..1362663 [GRCh38]
Chr16:1412663..1412664 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.585G>C (p.Leu195=) single nucleotide variant not provided [RCV001437383] Chr16:1362510 [GRCh38]
Chr16:1412511 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.526+9G>A single nucleotide variant not provided [RCV001430677] Chr16:1362329 [GRCh38]
Chr16:1412330 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.696A>G (p.Gly232=) single nucleotide variant GNPTG-mucolipidosis [RCV001831420]|not provided [RCV001400211] Chr16:1362697 [GRCh38]
Chr16:1412698 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.610-9C>T single nucleotide variant not provided [RCV001446844] Chr16:1362602 [GRCh38]
Chr16:1412603 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.909G>C (p.Gly303=) single nucleotide variant not provided [RCV001392964] Chr16:1363082 [GRCh38]
Chr16:1413083 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.609+14C>T single nucleotide variant not provided [RCV001401113] Chr16:1362548 [GRCh38]
Chr16:1412549 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.348C>T (p.Asn116=) single nucleotide variant not provided [RCV001425788] Chr16:1362068 [GRCh38]
Chr16:1412069 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.234-4C>T single nucleotide variant not provided [RCV001407854] Chr16:1361868 [GRCh38]
Chr16:1411869 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.53-8C>G single nucleotide variant not provided [RCV001407858] Chr16:1352094 [GRCh38]
Chr16:1402095 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.233+9_233+19del deletion not provided [RCV001403131] Chr16:1361802..1361812 [GRCh38]
Chr16:1411803..1411813 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.52+9C>T single nucleotide variant not provided [RCV001447238] Chr16:1352026 [GRCh38]
Chr16:1402027 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.873T>G (p.Ser291=) single nucleotide variant not provided [RCV001407955] Chr16:1363046 [GRCh38]
Chr16:1413047 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.233+9A>G single nucleotide variant not provided [RCV001431560] Chr16:1361806 [GRCh38]
Chr16:1411807 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.204G>T (p.Ser68=) single nucleotide variant not provided [RCV001431565] Chr16:1361768 [GRCh38]
Chr16:1411769 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.813G>C (p.Thr271=) single nucleotide variant not provided [RCV001401305] Chr16:1362896 [GRCh38]
Chr16:1412897 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.412-5C>G single nucleotide variant not provided [RCV001411129] Chr16:1362201 [GRCh38]
Chr16:1412202 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.681C>G (p.Pro227=) single nucleotide variant not provided [RCV001423979] Chr16:1362682 [GRCh38]
Chr16:1412683 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.739A>T (p.Lys247Ter) single nucleotide variant GNPTG-mucolipidosis [RCV004770133]|not provided [RCV001381705] Chr16:1362740 [GRCh38]
Chr16:1412741 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.513C>T (p.Pro171=) single nucleotide variant not provided [RCV001439159] Chr16:1362307 [GRCh38]
Chr16:1412308 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.526+8T>C single nucleotide variant not provided [RCV001442769] Chr16:1362328 [GRCh38]
Chr16:1412329 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.78G>A (p.Lys26=) single nucleotide variant not provided [RCV001448043] Chr16:1352127 [GRCh38]
Chr16:1402128 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.117C>T (p.Asn39=) single nucleotide variant not provided [RCV001435210] Chr16:1352245 [GRCh38]
Chr16:1402246 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.179-1G>A single nucleotide variant GNPTG-mucolipidosis [RCV001831373]|not provided [RCV001379957] Chr16:1361742 [GRCh38]
Chr16:1411743 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.789C>T (p.Leu263=) single nucleotide variant not provided [RCV001406588] Chr16:1362872 [GRCh38]
Chr16:1412873 [GRCh37]
Chr16:16p13.3		 likely benign
NC_000016.9:g.(?_1411734)_(1413102_?)del deletion not provided [RCV001378830] Chr16:1411734..1413102 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.742-5_742-4insT insertion not provided [RCV001448125] Chr16:1362820..1362821 [GRCh38]
Chr16:1412821..1412822 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.171C>T (p.Pro57=) single nucleotide variant not provided [RCV001429785] Chr16:1352299 [GRCh38]
Chr16:1402300 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.393C>T (p.Ser131=) single nucleotide variant not provided [RCV001505218] Chr16:1362113 [GRCh38]
Chr16:1412114 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.24C>G (p.Leu8=) single nucleotide variant not provided [RCV001457474] Chr16:1351989 [GRCh38]
Chr16:1401990 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.852C>T (p.His284=) single nucleotide variant not provided [RCV001490036] Chr16:1363025 [GRCh38]
Chr16:1413026 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.726G>A (p.Leu242=) single nucleotide variant not provided [RCV001485995] Chr16:1362727 [GRCh38]
Chr16:1412728 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.468C>T (p.Thr156=) single nucleotide variant not provided [RCV001465117] Chr16:1362262 [GRCh38]
Chr16:1412263 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.267G>A (p.Val89=) single nucleotide variant not provided [RCV001495916] Chr16:1361905 [GRCh38]
Chr16:1411906 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.201C>T (p.Leu67=) single nucleotide variant not provided [RCV001458428] Chr16:1361765 [GRCh38]
Chr16:1411766 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.279G>A (p.Glu93=) single nucleotide variant not provided [RCV001476463] Chr16:1361917 [GRCh38]
Chr16:1411918 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.742-4G>C single nucleotide variant not provided [RCV001503501] Chr16:1362821 [GRCh38]
Chr16:1412822 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.318-18G>A single nucleotide variant GNPTG-mucolipidosis [RCV002501768]|not provided [RCV001512505] Chr16:1362020 [GRCh38]
Chr16:1412021 [GRCh37]
Chr16:16p13.3		 benign|likely benign
NM_032520.5(GNPTG):c.276C>T (p.His92=) single nucleotide variant not provided [RCV001501375] Chr16:1361914 [GRCh38]
Chr16:1411915 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.471C>T (p.Cys157=) single nucleotide variant not provided [RCV001453439] Chr16:1362265 [GRCh38]
Chr16:1412266 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.317+7G>T single nucleotide variant not provided [RCV001460891] Chr16:1361962 [GRCh38]
Chr16:1411963 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.317+12C>T single nucleotide variant not provided [RCV001478611] Chr16:1361967 [GRCh38]
Chr16:1411968 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.813G>A (p.Thr271=) single nucleotide variant not provided [RCV001454183] Chr16:1362896 [GRCh38]
Chr16:1412897 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.750_753del (p.Lys250fs) deletion not provided [RCV001385187] Chr16:1362831..1362834 [GRCh38]
Chr16:1412832..1412835 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.317+9G>A single nucleotide variant not provided [RCV001503022] Chr16:1361964 [GRCh38]
Chr16:1411965 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.501C>T (p.Leu167=) single nucleotide variant not provided [RCV001485828] Chr16:1362295 [GRCh38]
Chr16:1412296 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.375C>T (p.Asp125=) single nucleotide variant not provided [RCV001490619] Chr16:1362095 [GRCh38]
Chr16:1412096 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.315C>A (p.Leu105=) single nucleotide variant not provided [RCV001485933] Chr16:1361953 [GRCh38]
Chr16:1411954 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.144C>T (p.Arg48=) single nucleotide variant not provided [RCV001473874] Chr16:1352272 [GRCh38]
Chr16:1402273 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.702T>G (p.Pro234=) single nucleotide variant not provided [RCV001429046] Chr16:1362703 [GRCh38]
Chr16:1412704 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.417_429del (p.Leu140fs) deletion not provided [RCV001390867] Chr16:1362206..1362218 [GRCh38]
Chr16:1412207..1412219 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.178+8A>C single nucleotide variant not provided [RCV001498167] Chr16:1352314 [GRCh38]
Chr16:1402315 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.114G>C (p.Val38=) single nucleotide variant not provided [RCV001478012] Chr16:1352242 [GRCh38]
Chr16:1402243 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.315C>T (p.Leu105=) single nucleotide variant not provided [RCV001464966] Chr16:1361953 [GRCh38]
Chr16:1411954 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.741+10T>C single nucleotide variant not provided [RCV001451686] Chr16:1362752 [GRCh38]
Chr16:1412753 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.366G>A (p.Trp122Ter) single nucleotide variant not provided [RCV001383496] Chr16:1362086 [GRCh38]
Chr16:1412087 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.53-7C>T single nucleotide variant not provided [RCV001417599] Chr16:1352095 [GRCh38]
Chr16:1402096 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.597G>A (p.Leu199=) single nucleotide variant not provided [RCV001499096] Chr16:1362522 [GRCh38]
Chr16:1412523 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.741+9T>C single nucleotide variant not provided [RCV001483378] Chr16:1362751 [GRCh38]
Chr16:1412752 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.25C>T (p.Leu9=) single nucleotide variant not provided [RCV001415838] Chr16:1351990 [GRCh38]
Chr16:1401991 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.462G>A (p.Pro154=) single nucleotide variant not provided [RCV001423804] Chr16:1362256 [GRCh38]
Chr16:1412257 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.318-19C>A single nucleotide variant not provided [RCV001503753] Chr16:1362019 [GRCh38]
Chr16:1412020 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.285C>T (p.Thr95=) single nucleotide variant not provided [RCV001400415] Chr16:1361923 [GRCh38]
Chr16:1411924 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.111-10C>T single nucleotide variant not provided [RCV001438291] Chr16:1352229 [GRCh38]
Chr16:1402230 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.495C>T (p.Thr165=) single nucleotide variant not provided [RCV001454488] Chr16:1362289 [GRCh38]
Chr16:1412290 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.906T>C (p.Arg302=) single nucleotide variant not provided [RCV001500890] Chr16:1363079 [GRCh38]
Chr16:1413080 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.654C>T (p.Tyr218=) single nucleotide variant not provided [RCV001418169] Chr16:1362655 [GRCh38]
Chr16:1412656 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.897A>C (p.Pro299=) single nucleotide variant not provided [RCV001480795] Chr16:1363070 [GRCh38]
Chr16:1413071 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.411+6dup duplication not provided [RCV001517817] Chr16:1362133..1362134 [GRCh38]
Chr16:1412134..1412135 [GRCh37]
Chr16:16p13.3		 benign
NM_032520.5(GNPTG):c.405G>A (p.Gln135=) single nucleotide variant not provided [RCV001418171] Chr16:1362125 [GRCh38]
Chr16:1412126 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.412-18C>T single nucleotide variant not provided [RCV001476880] Chr16:1362188 [GRCh38]
Chr16:1412189 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.52+1G>C single nucleotide variant not provided [RCV001379129] Chr16:1352018 [GRCh38]
Chr16:1402019 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.690G>A (p.Leu230=) single nucleotide variant not provided [RCV001441447] Chr16:1362691 [GRCh38]
Chr16:1412692 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.514del (p.His172fs) deletion not provided [RCV001386750] Chr16:1362304 [GRCh38]
Chr16:1412305 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.742-6T>G single nucleotide variant not provided [RCV001401170] Chr16:1362819 [GRCh38]
Chr16:1412820 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.234-1G>C single nucleotide variant not provided [RCV001946660] Chr16:1361871 [GRCh38]
Chr16:1411872 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.874C>T (p.Pro292Ser) single nucleotide variant not provided [RCV001988705] Chr16:1363047 [GRCh38]
Chr16:1413048 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.572T>G (p.Val191Gly) single nucleotide variant not provided [RCV001915539] Chr16:1362497 [GRCh38]
Chr16:1412498 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.183dup (p.Val62fs) duplication not provided [RCV001950221] Chr16:1361744..1361745 [GRCh38]
Chr16:1411745..1411746 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.179G>A (p.Gly60Glu) single nucleotide variant GNPTG-mucolipidosis [RCV003313259]|not provided [RCV002042837] Chr16:1361743 [GRCh38]
Chr16:1411744 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.700C>T (p.Pro234Ser) single nucleotide variant not provided [RCV002024835] Chr16:1362701 [GRCh38]
Chr16:1412702 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.799G>A (p.Gly267Ser) single nucleotide variant not provided [RCV001929461] Chr16:1362882 [GRCh38]
Chr16:1412883 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.638_639del (p.Leu212_Phe213insTer) deletion GNPTG-mucolipidosis [RCV002052189]|not provided [RCV002550510] Chr16:1362636..1362637 [GRCh38]
Chr16:1412637..1412638 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.190_193dup (p.Phe65fs) microsatellite GNPTG-mucolipidosis [RCV001843409]|not provided [RCV003698881] Chr16:1361752..1361753 [GRCh38]
Chr16:1411753..1411754 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.742-3T>C single nucleotide variant not provided [RCV001910694] Chr16:1362822 [GRCh38]
Chr16:1412823 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.610-5_610-1del deletion not provided [RCV002005212] Chr16:1362606..1362610 [GRCh38]
Chr16:1412607..1412611 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.464G>A (p.Ser155Asn) single nucleotide variant not provided [RCV002003629] Chr16:1362258 [GRCh38]
Chr16:1412259 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.899G>A (p.Gly300Glu) single nucleotide variant not provided [RCV001890093] Chr16:1363072 [GRCh38]
Chr16:1413073 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.650G>A (p.Gly217Asp) single nucleotide variant not provided [RCV001890485] Chr16:1362651 [GRCh38]
Chr16:1412652 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.659_666dup (p.Glu223fs) duplication not provided [RCV002001879] Chr16:1362658..1362659 [GRCh38]
Chr16:1412659..1412660 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.298G>A (p.Ala100Thr) single nucleotide variant not provided [RCV001891787] Chr16:1361936 [GRCh38]
Chr16:1411937 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.356C>T (p.Thr119Met) single nucleotide variant Inborn genetic diseases [RCV003382726]|not provided [RCV001910464] Chr16:1362076 [GRCh38]
Chr16:1412077 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.310A>T (p.Ile104Phe) single nucleotide variant not provided [RCV001964983] Chr16:1361948 [GRCh38]
Chr16:1411949 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-1468828) copy number loss not specified [RCV002052500] Chr16:85880..1468828 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.755T>C (p.Leu252Pro) single nucleotide variant not provided [RCV001892854] Chr16:1362838 [GRCh38]
Chr16:1412839 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.133C>T (p.Gln45Ter) single nucleotide variant not provided [RCV001947176] Chr16:1352261 [GRCh38]
Chr16:1402262 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_1401967)_(1413092_?)dup duplication not provided [RCV001928782] Chr16:1401967..1413092 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.869del (p.Lys290fs) deletion not provided [RCV001873033] Chr16:1363041 [GRCh38]
Chr16:1413042 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.605C>T (p.Pro202Leu) single nucleotide variant not provided [RCV001910510] Chr16:1362530 [GRCh38]
Chr16:1412531 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.886C>T (p.Arg296Trp) single nucleotide variant not provided [RCV001948142] Chr16:1363059 [GRCh38]
Chr16:1413060 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.331T>C (p.Trp111Arg) single nucleotide variant not provided [RCV001872288] Chr16:1362051 [GRCh38]
Chr16:1412052 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.461C>T (p.Pro154Leu) single nucleotide variant not provided [RCV001965044] Chr16:1362255 [GRCh38]
Chr16:1412256 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.260A>G (p.His87Arg) single nucleotide variant not provided [RCV002021315] Chr16:1361898 [GRCh38]
Chr16:1411899 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.609+1G>T single nucleotide variant not provided [RCV001967318] Chr16:1362535 [GRCh38]
Chr16:1412536 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.91G>A (p.Glu31Lys) single nucleotide variant not provided [RCV001891791] Chr16:1352140 [GRCh38]
Chr16:1402141 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.52+1G>A single nucleotide variant not provided [RCV002037600] Chr16:1352018 [GRCh38]
Chr16:1402019 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.556C>T (p.Arg186Trp) single nucleotide variant not provided [RCV002036641] Chr16:1362481 [GRCh38]
Chr16:1412482 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.294G>A (p.Trp98Ter) single nucleotide variant not provided [RCV001932435] Chr16:1361932 [GRCh38]
Chr16:1411933 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.707G>T (p.Ser236Ile) single nucleotide variant not provided [RCV001954427] Chr16:1362708 [GRCh38]
Chr16:1412709 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.820A>C (p.Thr274Pro) single nucleotide variant not provided [RCV001961633] Chr16:1362903 [GRCh38]
Chr16:1412904 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.571del (p.Gln190_Val191insTer) deletion not provided [RCV001924310] Chr16:1362495 [GRCh38]
Chr16:1412496 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.233+4_233+14dup duplication not provided [RCV001904499] Chr16:1361797..1361798 [GRCh38]
Chr16:1411798..1411799 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.664C>G (p.Pro222Ala) single nucleotide variant not provided [RCV001926291] Chr16:1362665 [GRCh38]
Chr16:1412666 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.203C>A (p.Ser68Ter) single nucleotide variant GNPTG-mucolipidosis [RCV004776305]|not provided [RCV001887910] Chr16:1361767 [GRCh38]
Chr16:1411768 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.607C>T (p.Gln203Ter) single nucleotide variant not provided [RCV001993021] Chr16:1362532 [GRCh38]
Chr16:1412533 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.233+3G>A single nucleotide variant not provided [RCV001931640] Chr16:1361800 [GRCh38]
Chr16:1411801 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.787C>T (p.Leu263Phe) single nucleotide variant not provided [RCV001902319] Chr16:1362870 [GRCh38]
Chr16:1412871 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.26T>A (p.Leu9Gln) single nucleotide variant not provided [RCV002046351] Chr16:1351991 [GRCh38]
Chr16:1401992 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.246G>C (p.Glu82Asp) single nucleotide variant not provided [RCV001930857] Chr16:1361884 [GRCh38]
Chr16:1411885 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.806_821dup (p.Glu275fs) duplication not provided [RCV002011436] Chr16:1362887..1362888 [GRCh38]
Chr16:1412888..1412889 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.853G>A (p.Glu285Lys) single nucleotide variant not provided [RCV001901820] Chr16:1363026 [GRCh38]
Chr16:1413027 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.623T>G (p.Leu208Trp) single nucleotide variant not provided [RCV001902738] Chr16:1362624 [GRCh38]
Chr16:1412625 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.757T>C (p.Ser253Pro) single nucleotide variant not provided [RCV001975302] Chr16:1362840 [GRCh38]
Chr16:1412841 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.742G>T (p.Ala248Ser) single nucleotide variant not provided [RCV001917856] Chr16:1362825 [GRCh38]
Chr16:1412826 [GRCh37]
Chr16:16p13.3		 uncertain significance
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
NM_032520.5(GNPTG):c.685C>T (p.Gln229Ter) single nucleotide variant not provided [RCV001898126] Chr16:1362686 [GRCh38]
Chr16:1412687 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.53-4G>A single nucleotide variant not provided [RCV001876547] Chr16:1352098 [GRCh38]
Chr16:1402099 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.6G>A (p.Ala2=) single nucleotide variant not provided [RCV001997930] Chr16:1351971 [GRCh38]
Chr16:1401972 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.17C>T (p.Ala6Val) single nucleotide variant Inborn genetic diseases [RCV004631926]|not provided [RCV002017955] Chr16:1351982 [GRCh38]
Chr16:1401983 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.659dup (p.Thr221fs) duplication not provided [RCV002035277] Chr16:1362657..1362658 [GRCh38]
Chr16:1412658..1412659 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.715T>C (p.Phe239Leu) single nucleotide variant not provided [RCV001982068] Chr16:1362716 [GRCh38]
Chr16:1412717 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV001926047] Chr16:1351968 [GRCh38]
Chr16:1401969 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.589G>A (p.Asp197Asn) single nucleotide variant not provided [RCV001924278] Chr16:1362514 [GRCh38]
Chr16:1412515 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.181C>A (p.Pro61Thr) single nucleotide variant not provided [RCV001877156] Chr16:1361745 [GRCh38]
Chr16:1411746 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.233+19C>T single nucleotide variant not provided [RCV001932966] Chr16:1361816 [GRCh38]
Chr16:1411817 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.827C>T (p.Thr276Ile) single nucleotide variant not provided [RCV001940510] Chr16:1363000 [GRCh38]
Chr16:1413001 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.233+6T>G single nucleotide variant not provided [RCV001925743] Chr16:1361803 [GRCh38]
Chr16:1411804 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.112G>A (p.Val38Met) single nucleotide variant Inborn genetic diseases [RCV004043525]|not provided [RCV001921240] Chr16:1352240 [GRCh38]
Chr16:1402241 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.110+18C>T single nucleotide variant not provided [RCV001899772] Chr16:1352177 [GRCh38]
Chr16:1402178 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.904C>T (p.Arg302Cys) single nucleotide variant not provided [RCV001917697] Chr16:1363077 [GRCh38]
Chr16:1413078 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.223G>C (p.Val75Leu) single nucleotide variant not provided [RCV002027223] Chr16:1361787 [GRCh38]
Chr16:1411788 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.286T>C (p.Phe96Leu) single nucleotide variant not provided [RCV001990099] Chr16:1361924 [GRCh38]
Chr16:1411925 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.601_602dup (p.Gln203fs) duplication not provided [RCV001878288] Chr16:1362524..1362525 [GRCh38]
Chr16:1412525..1412526 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.494C>T (p.Thr165Ile) single nucleotide variant not provided [RCV001952194] Chr16:1362288 [GRCh38]
Chr16:1412289 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.786G>C (p.Leu262Phe) single nucleotide variant not provided [RCV001898272] Chr16:1362869 [GRCh38]
Chr16:1412870 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.818C>T (p.Pro273Leu) single nucleotide variant not provided [RCV001879459] Chr16:1362901 [GRCh38]
Chr16:1412902 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.385_400del (p.Cys129fs) deletion not provided [RCV001951409] Chr16:1362102..1362117 [GRCh38]
Chr16:1412103..1412118 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.233+11G>C single nucleotide variant not provided [RCV002126417] Chr16:1361808 [GRCh38]
Chr16:1411809 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.526+15C>T single nucleotide variant not provided [RCV002205828] Chr16:1362335 [GRCh38]
Chr16:1412336 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.318-16dup duplication not provided [RCV002128216] Chr16:1362021..1362022 [GRCh38]
Chr16:1412022..1412023 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.823+9C>A single nucleotide variant not provided [RCV002209262] Chr16:1362915 [GRCh38]
Chr16:1412916 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.823+14G>T single nucleotide variant not provided [RCV002185054] Chr16:1362920 [GRCh38]
Chr16:1412921 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.526+7G>A single nucleotide variant not provided [RCV002105765] Chr16:1362327 [GRCh38]
Chr16:1412328 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.824-15C>G single nucleotide variant not provided [RCV002166568] Chr16:1362982 [GRCh38]
Chr16:1412983 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.318-12G>T single nucleotide variant not provided [RCV002112544] Chr16:1362026 [GRCh38]
Chr16:1412027 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.610-6C>T single nucleotide variant not provided [RCV002126489] Chr16:1362605 [GRCh38]
Chr16:1412606 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.234-17G>A single nucleotide variant not provided [RCV002210208] Chr16:1361855 [GRCh38]
Chr16:1411856 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.412-3del deletion not provided [RCV002129871] Chr16:1362200 [GRCh38]
Chr16:1412201 [GRCh37]
Chr16:16p13.3		 benign
NM_032520.5(GNPTG):c.741+16G>A single nucleotide variant not provided [RCV002127853] Chr16:1362758 [GRCh38]
Chr16:1412759 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.742-15T>A single nucleotide variant not provided [RCV002088093] Chr16:1362810 [GRCh38]
Chr16:1412811 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.610-17G>A single nucleotide variant not provided [RCV002148195] Chr16:1362594 [GRCh38]
Chr16:1412595 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.234-16C>T single nucleotide variant not provided [RCV002085384] Chr16:1361856 [GRCh38]
Chr16:1411857 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.526+16G>A single nucleotide variant not provided [RCV002128290] Chr16:1362336 [GRCh38]
Chr16:1412337 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.411+9_411+35dup duplication not provided [RCV002167989] Chr16:1362133..1362134 [GRCh38]
Chr16:1412134..1412135 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.610-12C>G single nucleotide variant not provided [RCV002147223] Chr16:1362599 [GRCh38]
Chr16:1412600 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.318-13C>T single nucleotide variant not provided [RCV002075880] Chr16:1362025 [GRCh38]
Chr16:1412026 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.317+7G>A single nucleotide variant not provided [RCV002165620] Chr16:1361962 [GRCh38]
Chr16:1411963 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.824-17A>C single nucleotide variant not provided [RCV002106256] Chr16:1362980 [GRCh38]
Chr16:1412981 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.450T>C (p.His150=) single nucleotide variant not provided [RCV002168218] Chr16:1362244 [GRCh38]
Chr16:1412245 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.399C>T (p.Ser133=) single nucleotide variant not provided [RCV002191509] Chr16:1362119 [GRCh38]
Chr16:1412120 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.234-8G>A single nucleotide variant not provided [RCV002091403] Chr16:1361864 [GRCh38]
Chr16:1411865 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.52+20G>A single nucleotide variant not provided [RCV002107315] Chr16:1352037 [GRCh38]
Chr16:1402038 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.663C>G (p.Thr221=) single nucleotide variant not provided [RCV002208560] Chr16:1362664 [GRCh38]
Chr16:1412665 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.9G>C (p.Ala3=) single nucleotide variant not provided [RCV002135315] Chr16:1351974 [GRCh38]
Chr16:1401975 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.178+18T>C single nucleotide variant not provided [RCV002124473] Chr16:1352324 [GRCh38]
Chr16:1402325 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.823+7C>T single nucleotide variant not provided [RCV002147305] Chr16:1362913 [GRCh38]
Chr16:1412914 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.72A>C (p.Ala24=) single nucleotide variant not provided [RCV002193341] Chr16:1352121 [GRCh38]
Chr16:1402122 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.42C>G (p.Leu14=) single nucleotide variant not provided [RCV002153498] Chr16:1352007 [GRCh38]
Chr16:1402008 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.609+11G>A single nucleotide variant not provided [RCV002096209] Chr16:1362545 [GRCh38]
Chr16:1412546 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.179-9C>T single nucleotide variant not provided [RCV002212203] Chr16:1361734 [GRCh38]
Chr16:1411735 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.741+8A>G single nucleotide variant not provided [RCV002194900] Chr16:1362750 [GRCh38]
Chr16:1412751 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.412-4C>G single nucleotide variant not provided [RCV002153766] Chr16:1362202 [GRCh38]
Chr16:1412203 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.233+20G>A single nucleotide variant not provided [RCV002128487] Chr16:1361817 [GRCh38]
Chr16:1411818 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.824-15C>T single nucleotide variant not provided [RCV002114557] Chr16:1362982 [GRCh38]
Chr16:1412983 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.621G>A (p.Lys207=) single nucleotide variant not provided [RCV002150556] Chr16:1362622 [GRCh38]
Chr16:1412623 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.213C>T (p.Cys71=) single nucleotide variant not provided [RCV002165272] Chr16:1361777 [GRCh38]
Chr16:1411778 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.114G>A (p.Val38=) single nucleotide variant not provided [RCV002150656] Chr16:1352242 [GRCh38]
Chr16:1402243 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.179-9C>G single nucleotide variant not provided [RCV002081099] Chr16:1361734 [GRCh38]
Chr16:1411735 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.823+8A>T single nucleotide variant not provided [RCV002085865] Chr16:1362914 [GRCh38]
Chr16:1412915 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.711G>A (p.Leu237=) single nucleotide variant not provided [RCV002152820] Chr16:1362712 [GRCh38]
Chr16:1412713 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.317+19G>A single nucleotide variant not provided [RCV002213381] Chr16:1361974 [GRCh38]
Chr16:1411975 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.610-12_610-6dup duplication not provided [RCV002133125] Chr16:1362597..1362598 [GRCh38]
Chr16:1412598..1412599 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.412-3dup duplication not provided [RCV002124921] Chr16:1362199..1362200 [GRCh38]
Chr16:1412200..1412201 [GRCh37]
Chr16:16p13.3		 benign
NM_032520.5(GNPTG):c.147C>G (p.Leu49=) single nucleotide variant not provided [RCV002149151] Chr16:1352275 [GRCh38]
Chr16:1402276 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.412-13G>A single nucleotide variant not provided [RCV002195699] Chr16:1362193 [GRCh38]
Chr16:1412194 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.610-20C>T single nucleotide variant not provided [RCV002194265] Chr16:1362591 [GRCh38]
Chr16:1412592 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.53-20C>G single nucleotide variant not provided [RCV002195558] Chr16:1352082 [GRCh38]
Chr16:1402083 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.318-12G>A single nucleotide variant not provided [RCV002212902] Chr16:1362026 [GRCh38]
Chr16:1412027 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.153C>T (p.Ala51=) single nucleotide variant not provided [RCV002091969] Chr16:1352281 [GRCh38]
Chr16:1402282 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.795G>A (p.Gln265=) single nucleotide variant not provided [RCV002145435] Chr16:1362878 [GRCh38]
Chr16:1412879 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.915G>A (p.Leu305=) single nucleotide variant not provided [RCV002150256] Chr16:1363088 [GRCh38]
Chr16:1413089 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.526+11G>A single nucleotide variant not provided [RCV002212095] Chr16:1362331 [GRCh38]
Chr16:1412332 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.52+16G>C single nucleotide variant not provided [RCV002187988] Chr16:1352033 [GRCh38]
Chr16:1402034 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.823+5_823+8dup duplication not provided [RCV002201261] Chr16:1362909..1362910 [GRCh38]
Chr16:1412910..1412911 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.527-10G>C single nucleotide variant not provided [RCV002138620] Chr16:1362442 [GRCh38]
Chr16:1412443 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.663C>A (p.Thr221=) single nucleotide variant not provided [RCV002138942] Chr16:1362664 [GRCh38]
Chr16:1412665 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.610-7C>T single nucleotide variant not provided [RCV002155558] Chr16:1362604 [GRCh38]
Chr16:1412605 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.318-5C>T single nucleotide variant not provided [RCV002175443] Chr16:1362033 [GRCh38]
Chr16:1412034 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.861C>G (p.Pro287=) single nucleotide variant not provided [RCV002154290] Chr16:1363034 [GRCh38]
Chr16:1413035 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.179-7C>T single nucleotide variant not provided [RCV002179867] Chr16:1361736 [GRCh38]
Chr16:1411737 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.823+17_824-36del deletion not provided [RCV002216831] Chr16:1362913..1362951 [GRCh38]
Chr16:1412914..1412952 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.714G>T (p.Gly238=) single nucleotide variant not provided [RCV002122079] Chr16:1362715 [GRCh38]
Chr16:1412716 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.210G>A (p.Lys70=) single nucleotide variant not provided [RCV002217324] Chr16:1361774 [GRCh38]
Chr16:1411775 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.526+8T>G single nucleotide variant not provided [RCV002181919] Chr16:1362328 [GRCh38]
Chr16:1412329 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.709T>C (p.Leu237=) single nucleotide variant not provided [RCV002122495] Chr16:1362710 [GRCh38]
Chr16:1412711 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.742-16T>A single nucleotide variant not provided [RCV002135350] Chr16:1362809 [GRCh38]
Chr16:1412810 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.219C>T (p.Ser73=) single nucleotide variant not provided [RCV002201480] Chr16:1361783 [GRCh38]
Chr16:1411784 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.609+19T>G single nucleotide variant not provided [RCV002163061] Chr16:1362553 [GRCh38]
Chr16:1412554 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.823+17G>A single nucleotide variant not provided [RCV002103736] Chr16:1362923 [GRCh38]
Chr16:1412924 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.824-16C>T single nucleotide variant not provided [RCV002103737] Chr16:1362981 [GRCh38]
Chr16:1412982 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.480G>A (p.Ala160=) single nucleotide variant not provided [RCV002175743] Chr16:1362274 [GRCh38]
Chr16:1412275 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.110+13G>A single nucleotide variant not provided [RCV002120085] Chr16:1352172 [GRCh38]
Chr16:1402173 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.357G>T (p.Thr119=) single nucleotide variant not provided [RCV002138352] Chr16:1362077 [GRCh38]
Chr16:1412078 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.27G>A (p.Leu9=) single nucleotide variant not provided [RCV002084271] Chr16:1351992 [GRCh38]
Chr16:1401993 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.768C>T (p.Ile256=) single nucleotide variant not provided [RCV002123695] Chr16:1362851 [GRCh38]
Chr16:1412852 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.576G>A (p.Glu192=) single nucleotide variant not provided [RCV002139010] Chr16:1362501 [GRCh38]
Chr16:1412502 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.495C>G (p.Thr165=) single nucleotide variant not provided [RCV002180963] Chr16:1362289 [GRCh38]
Chr16:1412290 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.105G>A (p.Ala35=) single nucleotide variant not provided [RCV002100275] Chr16:1352154 [GRCh38]
Chr16:1402155 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.102C>T (p.Asn34=) single nucleotide variant not provided [RCV002123468] Chr16:1352151 [GRCh38]
Chr16:1402152 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.651C>T (p.Gly217=) single nucleotide variant not provided [RCV002098818] Chr16:1362652 [GRCh38]
Chr16:1412653 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.220C>T (p.Leu74=) single nucleotide variant not provided [RCV002144467] Chr16:1361784 [GRCh38]
Chr16:1411785 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.570G>A (p.Gln190=) single nucleotide variant not provided [RCV002219996] Chr16:1362495 [GRCh38]
Chr16:1412496 [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.(?_256302)_(1843653_?)del deletion Idiopathic generalized epilepsy [RCV003109815] Chr16:256302..1843653 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.249C>T (p.Phe83=) single nucleotide variant not provided [RCV003118284] Chr16:1361887 [GRCh38]
Chr16:1411888 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.745C>T (p.His249Tyr) single nucleotide variant not provided [RCV003112689] Chr16:1362828 [GRCh38]
Chr16:1412829 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(1657267_?)del deletion Saldino-Mainzer syndrome [RCV003116765]|not provided [RCV003116766] Chr16:256302..1657267 [GRCh37]
Chr16:16p13.3		 pathogenic|no classifications from unflagged records
NM_032520.5(GNPTG):c.233+5G>C single nucleotide variant not provided [RCV003112325] Chr16:1361802 [GRCh38]
Chr16:1411803 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(1918176_?)del deletion not provided [RCV003119703] Chr16:256302..1918176 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.96G>A (p.Glu32=) single nucleotide variant not provided [RCV003121631] Chr16:1352145 [GRCh38]
Chr16:1402146 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.735C>A (p.Cys245Ter) single nucleotide variant GNPTG-mucolipidosis [RCV002250025] Chr16:1362736 [GRCh38]
Chr16:1412737 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.824-33C>T single nucleotide variant not provided [RCV002286238] Chr16:1362964 [GRCh38]
Chr16:1412965 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.526+41G>A single nucleotide variant not provided [RCV002285624] Chr16:1362361 [GRCh38]
Chr16:1412362 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.401G>T (p.Arg134Leu) single nucleotide variant Inborn genetic diseases [RCV003256130] Chr16:1362121 [GRCh38]
Chr16:1412122 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.610-1G>A single nucleotide variant GNPTG-mucolipidosis [RCV003152953]|not provided [RCV003679163] Chr16:1362610 [GRCh38]
Chr16:1412611 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3 copy number gain not provided [RCV002473769] Chr16:1129080..2021055 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.37_38delinsT (p.Gly13fs) indel GNPTG-mucolipidosis [RCV002309483] Chr16:1352002..1352003 [GRCh38]
Chr16:1402003..1402004 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.238A>T (p.Lys80Ter) single nucleotide variant GNPTG-mucolipidosis [RCV002309908] Chr16:1361876 [GRCh38]
Chr16:1411877 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.237C>A (p.Tyr79Ter) single nucleotide variant GNPTG-mucolipidosis [RCV002310359] Chr16:1361875 [GRCh38]
Chr16:1411876 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.88_90delinsTT (p.Val30fs) indel GNPTG-mucolipidosis [RCV002306932] Chr16:1352137..1352139 [GRCh38]
Chr16:1402138..1402140 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.599_600insG (p.Ile200fs) insertion GNPTG-mucolipidosis [RCV002308242] Chr16:1362524..1362525 [GRCh38]
Chr16:1412525..1412526 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.691G>T (p.Glu231Ter) single nucleotide variant GNPTG-mucolipidosis [RCV002309506] Chr16:1362692 [GRCh38]
Chr16:1412693 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.216_217del (p.Phe72fs) deletion GNPTG-mucolipidosis [RCV002310125] Chr16:1361780..1361781 [GRCh38]
Chr16:1411781..1411782 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.724C>T (p.Leu242=) single nucleotide variant not provided [RCV002858466] Chr16:1362725 [GRCh38]
Chr16:1412726 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.526+5_526+9dup duplication not provided [RCV002903763] Chr16:1362323..1362324 [GRCh38]
Chr16:1412324..1412325 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.823+9C>G single nucleotide variant not provided [RCV003074106] Chr16:1362915 [GRCh38]
Chr16:1412916 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.225G>A (p.Val75=) single nucleotide variant not provided [RCV002975388] Chr16:1361789 [GRCh38]
Chr16:1411790 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.382G>A (p.Ala128Thr) single nucleotide variant not provided [RCV003098962] Chr16:1362102 [GRCh38]
Chr16:1412103 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.16G>A (p.Ala6Thr) single nucleotide variant not provided [RCV002617859] Chr16:1351981 [GRCh38]
Chr16:1401982 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.885G>C (p.Leu295=) single nucleotide variant not provided [RCV002866095] Chr16:1363058 [GRCh38]
Chr16:1413059 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.111-10C>G single nucleotide variant not provided [RCV002681809] Chr16:1352229 [GRCh38]
Chr16:1402230 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.834C>G (p.Asn278Lys) single nucleotide variant not provided [RCV002690542] Chr16:1363007 [GRCh38]
Chr16:1413008 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.179-2A>G single nucleotide variant not provided [RCV002863857] Chr16:1361741 [GRCh38]
Chr16:1411742 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.514C>T (p.His172Tyr) single nucleotide variant not provided [RCV002908474] Chr16:1362308 [GRCh38]
Chr16:1412309 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.60G>A (p.Ala20=) single nucleotide variant not provided [RCV002686366] Chr16:1352109 [GRCh38]
Chr16:1402110 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.231C>T (p.Ser77=) single nucleotide variant not provided [RCV002755226] Chr16:1361795 [GRCh38]
Chr16:1411796 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.375C>A (p.Asp125Glu) single nucleotide variant not provided [RCV002994264] Chr16:1362095 [GRCh38]
Chr16:1412096 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.913T>C (p.Leu305=) single nucleotide variant not provided [RCV002858612] Chr16:1363086 [GRCh38]
Chr16:1413087 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.718G>A (p.Glu240Lys) single nucleotide variant not provided [RCV002686355] Chr16:1362719 [GRCh38]
Chr16:1412720 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.182C>G (p.Pro61Arg) single nucleotide variant Inborn genetic diseases [RCV002882932] Chr16:1361746 [GRCh38]
Chr16:1411747 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.109G>T (p.Gly37Trp) single nucleotide variant not provided [RCV002843435] Chr16:1352158 [GRCh38]
Chr16:1402159 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.317+4A>T single nucleotide variant not provided [RCV002947955] Chr16:1361959 [GRCh38]
Chr16:1411960 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.878A>C (p.Glu293Ala) single nucleotide variant not provided [RCV002996419] Chr16:1363051 [GRCh38]
Chr16:1413052 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.609+7G>T single nucleotide variant not provided [RCV002863573] Chr16:1362541 [GRCh38]
Chr16:1412542 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.609+6C>T single nucleotide variant not provided [RCV002947698] Chr16:1362540 [GRCh38]
Chr16:1412541 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.178+2T>G single nucleotide variant not provided [RCV002953668] Chr16:1352308 [GRCh38]
Chr16:1402309 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.609+15G>A single nucleotide variant not provided [RCV003081721] Chr16:1362549 [GRCh38]
Chr16:1412550 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.852C>G (p.His284Gln) single nucleotide variant Inborn genetic diseases [RCV003002522]|not provided [RCV003002523] Chr16:1363025 [GRCh38]
Chr16:1413026 [GRCh37]
Chr16:16p13.3		 likely benign|uncertain significance
NM_032520.5(GNPTG):c.111-9T>C single nucleotide variant not provided [RCV002796302] Chr16:1352230 [GRCh38]
Chr16:1402231 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.526+13G>A single nucleotide variant not provided [RCV002889494] Chr16:1362333 [GRCh38]
Chr16:1412334 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.527-13C>T single nucleotide variant not provided [RCV003019910] Chr16:1362439 [GRCh38]
Chr16:1412440 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.812C>G (p.Thr271Arg) single nucleotide variant Inborn genetic diseases [RCV004064616]|not provided [RCV002593270] Chr16:1362895 [GRCh38]
Chr16:1412896 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.853G>C (p.Glu285Gln) single nucleotide variant not provided [RCV002953590] Chr16:1363026 [GRCh38]
Chr16:1413027 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.234-3C>T single nucleotide variant not provided [RCV002571847] Chr16:1361869 [GRCh38]
Chr16:1411870 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.39G>T (p.Gly13=) single nucleotide variant not provided [RCV002867539] Chr16:1352004 [GRCh38]
Chr16:1402005 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.606C>G (p.Pro202=) single nucleotide variant not provided [RCV002871448] Chr16:1362531 [GRCh38]
Chr16:1412532 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.885G>A (p.Leu295=) single nucleotide variant not provided [RCV002847707] Chr16:1363058 [GRCh38]
Chr16:1413059 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.300del (p.Tyr101fs) deletion not provided [RCV003053790] Chr16:1361937 [GRCh38]
Chr16:1411938 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.184G>A (p.Val62Met) single nucleotide variant not provided [RCV002975945] Chr16:1361748 [GRCh38]
Chr16:1411749 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.61C>G (p.Pro21Ala) single nucleotide variant Inborn genetic diseases [RCV003161691]|not provided [RCV003079010] Chr16:1352110 [GRCh38]
Chr16:1402111 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.340G>A (p.Ala114Thr) single nucleotide variant not provided [RCV002795860] Chr16:1362060 [GRCh38]
Chr16:1412061 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.591T>A (p.Asp197Glu) single nucleotide variant not provided [RCV002705810] Chr16:1362516 [GRCh38]
Chr16:1412517 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.801C>T (p.Gly267=) single nucleotide variant not provided [RCV003077707] Chr16:1362884 [GRCh38]
Chr16:1412885 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.347A>C (p.Asn116Thr) single nucleotide variant not provided [RCV002659664] Chr16:1362067 [GRCh38]
Chr16:1412068 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.485C>T (p.Thr162Met) single nucleotide variant not provided [RCV002913436] Chr16:1362279 [GRCh38]
Chr16:1412280 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.77A>T (p.Lys26Met) single nucleotide variant not provided [RCV002695523] Chr16:1352126 [GRCh38]
Chr16:1402127 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.290G>C (p.Arg97Pro) single nucleotide variant Inborn genetic diseases [RCV002796739]|not provided [RCV002796738] Chr16:1361928 [GRCh38]
Chr16:1411929 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.52+8G>C single nucleotide variant not provided [RCV002636455] Chr16:1352025 [GRCh38]
Chr16:1402026 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.564G>A (p.Trp188Ter) single nucleotide variant not provided [RCV003055208] Chr16:1362489 [GRCh38]
Chr16:1412490 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.357G>C (p.Thr119=) single nucleotide variant not provided [RCV002823956] Chr16:1362077 [GRCh38]
Chr16:1412078 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.753A>G (p.Glu251=) single nucleotide variant not provided [RCV002846138] Chr16:1362836 [GRCh38]
Chr16:1412837 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.242A>C (p.Tyr81Ser) single nucleotide variant not provided [RCV003040969] Chr16:1361880 [GRCh38]
Chr16:1411881 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.357G>A (p.Thr119=) single nucleotide variant not provided [RCV002595178] Chr16:1362077 [GRCh38]
Chr16:1412078 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.47C>T (p.Ala16Val) single nucleotide variant not provided [RCV002801057] Chr16:1352012 [GRCh38]
Chr16:1402013 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.609G>A (p.Gln203=) single nucleotide variant not provided [RCV003085983] Chr16:1362534 [GRCh38]
Chr16:1412535 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.613C>T (p.His205Tyr) single nucleotide variant not provided [RCV002667235] Chr16:1362614 [GRCh38]
Chr16:1412615 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.5C>T (p.Ala2Val) single nucleotide variant not provided [RCV002640686] Chr16:1351970 [GRCh38]
Chr16:1401971 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.742-19C>T single nucleotide variant not provided [RCV002982961] Chr16:1362806 [GRCh38]
Chr16:1412807 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.108del (p.Phe36fs) deletion not provided [RCV002983062] Chr16:1352155 [GRCh38]
Chr16:1402156 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.37G>C (p.Gly13Arg) single nucleotide variant not provided [RCV003056938] Chr16:1352002 [GRCh38]
Chr16:1402003 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.752_762dup (p.Glu255fs) duplication not provided [RCV002572359] Chr16:1362830..1362831 [GRCh38]
Chr16:1412831..1412832 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.180A>C (p.Gly60=) single nucleotide variant not provided [RCV002872555] Chr16:1361744 [GRCh38]
Chr16:1411745 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.511C>T (p.Pro171Ser) single nucleotide variant Inborn genetic diseases [RCV002984485]|not provided [RCV003561145] Chr16:1362305 [GRCh38]
Chr16:1412306 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.262_264del (p.Asn88del) deletion not provided [RCV002643895] Chr16:1361898..1361900 [GRCh38]
Chr16:1411899..1411901 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.799G>T (p.Gly267Cys) single nucleotide variant not provided [RCV002740774] Chr16:1362882 [GRCh38]
Chr16:1412883 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.700C>A (p.Pro234Thr) single nucleotide variant not provided [RCV002625016] Chr16:1362701 [GRCh38]
Chr16:1412702 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.411+14C>T single nucleotide variant not provided [RCV003056642] Chr16:1362145 [GRCh38]
Chr16:1412146 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.412G>C (p.Val138Leu) single nucleotide variant Inborn genetic diseases [RCV002915274] Chr16:1362206 [GRCh38]
Chr16:1412207 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.362T>G (p.Met121Arg) single nucleotide variant not provided [RCV003024402] Chr16:1362082 [GRCh38]
Chr16:1412083 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.318-20C>T single nucleotide variant not provided [RCV002932526] Chr16:1362018 [GRCh38]
Chr16:1412019 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.610-7C>A single nucleotide variant not provided [RCV002875672] Chr16:1362604 [GRCh38]
Chr16:1412605 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.866C>T (p.Ala289Val) single nucleotide variant not provided [RCV003057456] Chr16:1363039 [GRCh38]
Chr16:1413040 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.748_754dup (p.Leu252fs) duplication not provided [RCV003005480] Chr16:1362830..1362831 [GRCh38]
Chr16:1412831..1412832 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.824-12G>A single nucleotide variant not provided [RCV003084071] Chr16:1362985 [GRCh38]
Chr16:1412986 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.780dup (p.Gly261fs) duplication not provided [RCV003084079] Chr16:1362860..1362861 [GRCh38]
Chr16:1412861..1412862 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.759A>G (p.Ser253=) single nucleotide variant not provided [RCV003007920] Chr16:1362842 [GRCh38]
Chr16:1412843 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.453G>A (p.Val151=) single nucleotide variant not provided [RCV003085561] Chr16:1362247 [GRCh38]
Chr16:1412248 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.701C>G (p.Pro234Arg) single nucleotide variant not provided [RCV002640688] Chr16:1362702 [GRCh38]
Chr16:1412703 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.701del (p.Pro234fs) deletion not provided [RCV003024887] Chr16:1362701 [GRCh38]
Chr16:1412702 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.317+16G>C single nucleotide variant not provided [RCV002786348] Chr16:1361971 [GRCh38]
Chr16:1411972 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.637T>C (p.Phe213Leu) single nucleotide variant not provided [RCV002932143] Chr16:1362638 [GRCh38]
Chr16:1412639 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.234-19A>T single nucleotide variant not provided [RCV002741015] Chr16:1361853 [GRCh38]
Chr16:1411854 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.315C>G (p.Leu105=) single nucleotide variant not provided [RCV003063873] Chr16:1361953 [GRCh38]
Chr16:1411954 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.350C>T (p.Thr117Ile) single nucleotide variant not provided [RCV002962320] Chr16:1362070 [GRCh38]
Chr16:1412071 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.730A>C (p.Asn244His) single nucleotide variant not provided [RCV002580347] Chr16:1362731 [GRCh38]
Chr16:1412732 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.318-13C>G single nucleotide variant not provided [RCV002900305] Chr16:1362025 [GRCh38]
Chr16:1412026 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.290G>A (p.Arg97His) single nucleotide variant Inborn genetic diseases [RCV003161727]|not provided [RCV003090909] Chr16:1361928 [GRCh38]
Chr16:1411929 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.876A>G (p.Pro292=) single nucleotide variant not provided [RCV002676370] Chr16:1363049 [GRCh38]
Chr16:1413050 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.870G>A (p.Lys290=) single nucleotide variant not provided [RCV002811225] Chr16:1363043 [GRCh38]
Chr16:1413044 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.111-7C>T single nucleotide variant not provided [RCV002649715] Chr16:1352232 [GRCh38]
Chr16:1402233 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.517G>A (p.Ala173Thr) single nucleotide variant not provided [RCV003091298] Chr16:1362311 [GRCh38]
Chr16:1412312 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.585G>A (p.Leu195=) single nucleotide variant not provided [RCV003089756] Chr16:1362510 [GRCh38]
Chr16:1412511 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.13C>G (p.Leu5Val) single nucleotide variant not provided [RCV002833316] Chr16:1351978 [GRCh38]
Chr16:1401979 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.909G>A (p.Gly303=) single nucleotide variant not provided [RCV003046200] Chr16:1363082 [GRCh38]
Chr16:1413083 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.527-5C>G single nucleotide variant not provided [RCV002629977] Chr16:1362447 [GRCh38]
Chr16:1412448 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.53-15T>C single nucleotide variant not provided [RCV002877026] Chr16:1352087 [GRCh38]
Chr16:1402088 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.647C>T (p.Ala216Val) single nucleotide variant Inborn genetic diseases [RCV003377817]|not provided [RCV002962324] Chr16:1362648 [GRCh38]
Chr16:1412649 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.422C>T (p.Ala141Val) single nucleotide variant not provided [RCV002937398] Chr16:1362216 [GRCh38]
Chr16:1412217 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.807dup (p.Tyr270fs) duplication not provided [RCV002833586] Chr16:1362886..1362887 [GRCh38]
Chr16:1412887..1412888 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.325C>T (p.His109Tyr) single nucleotide variant not provided [RCV002933672] Chr16:1362045 [GRCh38]
Chr16:1412046 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.492G>A (p.Glu164=) single nucleotide variant not provided [RCV002877304] Chr16:1362286 [GRCh38]
Chr16:1412287 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.52+5G>A single nucleotide variant not provided [RCV003008964] Chr16:1352022 [GRCh38]
Chr16:1402023 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.824-13_824-12del deletion not provided [RCV003089311] Chr16:1362984..1362985 [GRCh38]
Chr16:1412985..1412986 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.782G>C (p.Gly261Ala) single nucleotide variant not provided [RCV003087959] Chr16:1362865 [GRCh38]
Chr16:1412866 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.412-6C>T single nucleotide variant not provided [RCV002792103] Chr16:1362200 [GRCh38]
Chr16:1412201 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.111-3T>C single nucleotide variant not provided [RCV002805955] Chr16:1352236 [GRCh38]
Chr16:1402237 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.312C>A (p.Ile104=) single nucleotide variant not provided [RCV002647048] Chr16:1361950 [GRCh38]
Chr16:1411951 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.691G>A (p.Glu231Lys) single nucleotide variant Inborn genetic diseases [RCV002878981] Chr16:1362692 [GRCh38]
Chr16:1412693 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.18G>A (p.Ala6=) single nucleotide variant not provided [RCV003088513] Chr16:1351983 [GRCh38]
Chr16:1401984 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.362T>C (p.Met121Thr) single nucleotide variant not provided [RCV002715337] Chr16:1362082 [GRCh38]
Chr16:1412083 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.712G>T (p.Gly238Trp) single nucleotide variant not provided [RCV003060541] Chr16:1362713 [GRCh38]
Chr16:1412714 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.178+9G>T single nucleotide variant not provided [RCV003044268] Chr16:1352315 [GRCh38]
Chr16:1402316 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.527-5C>T single nucleotide variant not provided [RCV002810471] Chr16:1362447 [GRCh38]
Chr16:1412448 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.52+15C>G single nucleotide variant not provided [RCV002631517] Chr16:1352032 [GRCh38]
Chr16:1402033 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.905G>A (p.Arg302His) single nucleotide variant not provided [RCV002629556] Chr16:1363078 [GRCh38]
Chr16:1413079 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.610-11_628dup duplication not provided [RCV002857536] Chr16:1362599..1362600 [GRCh38]
Chr16:1412600..1412601 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.354C>T (p.Phe118=) single nucleotide variant not provided [RCV002578991] Chr16:1362074 [GRCh38]
Chr16:1412075 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.849C>T (p.Gly283=) single nucleotide variant not provided [RCV003030244] Chr16:1363022 [GRCh38]
Chr16:1413023 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.457G>A (p.Glu153Lys) single nucleotide variant Inborn genetic diseases [RCV004070445]|not provided [RCV003061052] Chr16:1362251 [GRCh38]
Chr16:1412252 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.654_657del (p.Gly217_Tyr218insTer) deletion not provided [RCV003064299] Chr16:1362653..1362656 [GRCh38]
Chr16:1412654..1412657 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.20G>A (p.Arg7Gln) single nucleotide variant not provided [RCV002629853] Chr16:1351985 [GRCh38]
Chr16:1401986 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.130C>A (p.Pro44Thr) single nucleotide variant not provided [RCV003088536] Chr16:1352258 [GRCh38]
Chr16:1402259 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.12G>T (p.Gly4=) single nucleotide variant not provided [RCV002938219] Chr16:1351977 [GRCh38]
Chr16:1401978 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.343A>C (p.Asn115His) single nucleotide variant not provided [RCV002937748] Chr16:1362063 [GRCh38]
Chr16:1412064 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.265G>A (p.Val89Met) single nucleotide variant not provided [RCV002581499] Chr16:1361903 [GRCh38]
Chr16:1411904 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.176C>G (p.Ser59Cys) single nucleotide variant not provided [RCV002602347] Chr16:1352304 [GRCh38]
Chr16:1402305 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.843C>T (p.His281=) single nucleotide variant not provided [RCV002649388] Chr16:1363016 [GRCh38]
Chr16:1413017 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.712G>A (p.Gly238Arg) single nucleotide variant not provided [RCV003063691] Chr16:1362713 [GRCh38]
Chr16:1412714 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.412-5C>T single nucleotide variant not provided [RCV003031143] Chr16:1362201 [GRCh38]
Chr16:1412202 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.527-7T>G single nucleotide variant not provided [RCV002598608] Chr16:1362445 [GRCh38]
Chr16:1412446 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.15G>A (p.Leu5=) single nucleotide variant not provided [RCV002770928] Chr16:1351980 [GRCh38]
Chr16:1401981 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.401G>A (p.Arg134Gln) single nucleotide variant not provided [RCV002943132] Chr16:1362121 [GRCh38]
Chr16:1412122 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.234-5C>G single nucleotide variant not provided [RCV002635750] Chr16:1361867 [GRCh38]
Chr16:1411868 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.610-3_626dup duplication not provided [RCV002605350] Chr16:1362606..1362607 [GRCh38]
Chr16:1412607..1412608 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.317+13G>A single nucleotide variant not provided [RCV003051108] Chr16:1361968 [GRCh38]
Chr16:1411969 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.400C>T (p.Arg134Trp) single nucleotide variant not provided [RCV003066421] Chr16:1362120 [GRCh38]
Chr16:1412121 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.568C>A (p.Gln190Lys) single nucleotide variant not provided [RCV002604497] Chr16:1362493 [GRCh38]
Chr16:1412494 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.233+10G>A single nucleotide variant not provided [RCV003052355] Chr16:1361807 [GRCh38]
Chr16:1411808 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.412-6C>A single nucleotide variant not provided [RCV002653802] Chr16:1362200 [GRCh38]
Chr16:1412201 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.610-12del deletion not provided [RCV002814849] Chr16:1362598 [GRCh38]
Chr16:1412599 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.73G>A (p.Ala25Thr) single nucleotide variant not provided [RCV002654576] Chr16:1352122 [GRCh38]
Chr16:1402123 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.234-17G>C single nucleotide variant not provided [RCV002722156] Chr16:1361855 [GRCh38]
Chr16:1411856 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.574G>A (p.Glu192Lys) single nucleotide variant not provided [RCV002654901] Chr16:1362499 [GRCh38]
Chr16:1412500 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.111-5C>G single nucleotide variant not provided [RCV002633618] Chr16:1352234 [GRCh38]
Chr16:1402235 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.389G>A (p.Arg130His) single nucleotide variant not provided [RCV003066525] Chr16:1362109 [GRCh38]
Chr16:1412110 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.900A>C (p.Gly300=) single nucleotide variant not provided [RCV003073312] Chr16:1363073 [GRCh38]
Chr16:1413074 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.102del (p.Asn34fs) deletion not provided [RCV002606116] Chr16:1352151 [GRCh38]
Chr16:1402152 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.61C>A (p.Pro21Thr) single nucleotide variant not provided [RCV002588453] Chr16:1352110 [GRCh38]
Chr16:1402111 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.310A>G (p.Ile104Val) single nucleotide variant not provided [RCV002613037] Chr16:1361948 [GRCh38]
Chr16:1411949 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.881A>G (p.Gln294Arg) single nucleotide variant not provided [RCV002611094] Chr16:1363054 [GRCh38]
Chr16:1413055 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.180A>T (p.Gly60=) single nucleotide variant not provided [RCV002585152] Chr16:1361744 [GRCh38]
Chr16:1411745 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.423G>T (p.Ala141=) single nucleotide variant not provided [RCV002611282] Chr16:1362217 [GRCh38]
Chr16:1412218 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.186G>T (p.Val62=) single nucleotide variant not provided [RCV002585213] Chr16:1361750 [GRCh38]
Chr16:1411751 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.303C>T (p.Tyr101=) single nucleotide variant not provided [RCV002589863] Chr16:1361941 [GRCh38]
Chr16:1411942 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:811896-2130379)x1 copy number loss not provided [RCV003222891] Chr16:811896..2130379 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.477C>G (p.Tyr159Ter) single nucleotide variant GNPTG-mucolipidosis [RCV003143371] Chr16:1362271 [GRCh38]
Chr16:1412272 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.206G>C (p.Gly69Ala) single nucleotide variant Inborn genetic diseases [RCV003304132] Chr16:1361770 [GRCh38]
Chr16:1411771 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.882G>C (p.Gln294His) single nucleotide variant Inborn genetic diseases [RCV003195691] Chr16:1363055 [GRCh38]
Chr16:1413056 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.754C>T (p.Leu252Phe) single nucleotide variant not specified [RCV003324244] Chr16:1362837 [GRCh38]
Chr16:1412838 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.583del (p.Leu195fs) deletion GNPTG-mucolipidosis [RCV003330126] Chr16:1362507 [GRCh38]
Chr16:1412508 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.277G>A (p.Glu93Lys) single nucleotide variant not specified [RCV003331597] Chr16:1361915 [GRCh38]
Chr16:1411916 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.371G>C (p.Arg124Thr) single nucleotide variant Inborn genetic diseases [RCV003383793] Chr16:1362091 [GRCh38]
Chr16:1412092 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.179-17dup duplication not provided [RCV003873696] Chr16:1361725..1361726 [GRCh38]
Chr16:1411726..1411727 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.527-16T>C single nucleotide variant not provided [RCV003874966] Chr16:1362436 [GRCh38]
Chr16:1412437 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.411+12_411+19del deletion not provided [RCV003571536] Chr16:1362143..1362150 [GRCh38]
Chr16:1412144..1412151 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.411+19dup duplication not provided [RCV003570049] Chr16:1362149..1362150 [GRCh38]
Chr16:1412150..1412151 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.742-18T>G single nucleotide variant not provided [RCV003543702] Chr16:1362807 [GRCh38]
Chr16:1412808 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:85881-1657611)x1 copy number loss not provided [RCV003483253] Chr16:85881..1657611 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3 copy number gain not provided [RCV003485080] Chr16:1054247..2592737 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.824-17dup duplication not provided [RCV003826626] Chr16:1362979..1362980 [GRCh38]
Chr16:1412980..1412981 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.823+7C>A single nucleotide variant not provided [RCV003687061] Chr16:1362913 [GRCh38]
Chr16:1412914 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.355_356dup (p.Gly120fs) duplication not provided [RCV003579199] Chr16:1362073..1362074 [GRCh38]
Chr16:1412074..1412075 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.4_7dup (p.Ala3fs) duplication not provided [RCV003579200] Chr16:1351967..1351968 [GRCh38]
Chr16:1401968..1401969 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.291C>G (p.Arg97=) single nucleotide variant not provided [RCV003696194] Chr16:1361929 [GRCh38]
Chr16:1411930 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.423G>C (p.Ala141=) single nucleotide variant not provided [RCV003849101] Chr16:1362217 [GRCh38]
Chr16:1412218 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.609+7G>C single nucleotide variant not provided [RCV003576884] Chr16:1362541 [GRCh38]
Chr16:1412542 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.48C>G (p.Ala16=) single nucleotide variant not provided [RCV003688124] Chr16:1352013 [GRCh38]
Chr16:1402014 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.234-15C>T single nucleotide variant not provided [RCV003545610] Chr16:1361857 [GRCh38]
Chr16:1411858 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.411+20C>G single nucleotide variant not provided [RCV003577025] Chr16:1362151 [GRCh38]
Chr16:1412152 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.52+13G>A single nucleotide variant not provided [RCV003689668] Chr16:1352030 [GRCh38]
Chr16:1402031 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.823+19G>C single nucleotide variant not provided [RCV003739099] Chr16:1362925 [GRCh38]
Chr16:1412926 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.442C>T (p.Leu148=) single nucleotide variant not provided [RCV003574646] Chr16:1362236 [GRCh38]
Chr16:1412237 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.196C>A (p.Arg66=) single nucleotide variant not provided [RCV003547186] Chr16:1361760 [GRCh38]
Chr16:1411761 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.111-1G>C single nucleotide variant not provided [RCV003830000] Chr16:1352238 [GRCh38]
Chr16:1402239 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.384_385dup (p.Cys129fs) duplication not provided [RCV003573217] Chr16:1362103..1362104 [GRCh38]
Chr16:1412104..1412105 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.53-14C>T single nucleotide variant not provided [RCV003878048] Chr16:1352088 [GRCh38]
Chr16:1402089 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.52+19C>T single nucleotide variant not provided [RCV003577484] Chr16:1352036 [GRCh38]
Chr16:1402037 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.420G>A (p.Leu140=) single nucleotide variant not provided [RCV003573390] Chr16:1362214 [GRCh38]
Chr16:1412215 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.549C>T (p.Ala183=) single nucleotide variant not provided [RCV003576322] Chr16:1362474 [GRCh38]
Chr16:1412475 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.610-11T>C single nucleotide variant not provided [RCV003576633] Chr16:1362600 [GRCh38]
Chr16:1412601 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.792C>G (p.Thr264=) single nucleotide variant not provided [RCV003547914] Chr16:1362875 [GRCh38]
Chr16:1412876 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.178+12G>C single nucleotide variant not provided [RCV003695078] Chr16:1352318 [GRCh38]
Chr16:1402319 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.411+11dup duplication not provided [RCV003545309] Chr16:1362141..1362142 [GRCh38]
Chr16:1412142..1412143 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.317+11C>T single nucleotide variant not provided [RCV003876586] Chr16:1361966 [GRCh38]
Chr16:1411967 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.317+12_317+17del deletion not provided [RCV003714254] Chr16:1361962..1361967 [GRCh38]
Chr16:1411963..1411968 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.742-15T>C single nucleotide variant not provided [RCV003876291] Chr16:1362810 [GRCh38]
Chr16:1412811 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.742-8G>A single nucleotide variant not provided [RCV003716209] Chr16:1362817 [GRCh38]
Chr16:1412818 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.412-10C>G single nucleotide variant not provided [RCV003693645] Chr16:1362196 [GRCh38]
Chr16:1412197 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.592G>T (p.Glu198Ter) single nucleotide variant not provided [RCV003695941] Chr16:1362517 [GRCh38]
Chr16:1412518 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.526+7G>T single nucleotide variant not provided [RCV003695949] Chr16:1362327 [GRCh38]
Chr16:1412328 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.21G>C (p.Arg7=) single nucleotide variant not provided [RCV003686619] Chr16:1351986 [GRCh38]
Chr16:1401987 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.609+9G>A single nucleotide variant not provided [RCV003575795] Chr16:1362543 [GRCh38]
Chr16:1412544 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.465C>T (p.Ser155=) single nucleotide variant not provided [RCV003688181] Chr16:1362259 [GRCh38]
Chr16:1412260 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.742-4G>A single nucleotide variant not provided [RCV003689612] Chr16:1362821 [GRCh38]
Chr16:1412822 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.665del (p.Pro222fs) deletion not provided [RCV003544628] Chr16:1362663 [GRCh38]
Chr16:1412664 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.412-13G>C single nucleotide variant not provided [RCV003687337] Chr16:1362193 [GRCh38]
Chr16:1412194 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.507C>T (p.Cys169=) single nucleotide variant not provided [RCV003663117] Chr16:1362301 [GRCh38]
Chr16:1412302 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.714G>A (p.Gly238=) single nucleotide variant not provided [RCV003878143] Chr16:1362715 [GRCh38]
Chr16:1412716 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.777G>C (p.Leu259=) single nucleotide variant not provided [RCV003689461] Chr16:1362860 [GRCh38]
Chr16:1412861 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.317+16G>A single nucleotide variant not provided [RCV003876048] Chr16:1361971 [GRCh38]
Chr16:1411972 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.741+15G>C single nucleotide variant not provided [RCV003687771] Chr16:1362757 [GRCh38]
Chr16:1412758 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.632_639dup (p.Glu214fs) duplication not provided [RCV003693377] Chr16:1362632..1362633 [GRCh38]
Chr16:1412633..1412634 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.741+13G>C single nucleotide variant not provided [RCV003882340] Chr16:1362755 [GRCh38]
Chr16:1412756 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.824-18C>T single nucleotide variant not provided [RCV003825083] Chr16:1362979 [GRCh38]
Chr16:1412980 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.252C>T (p.Cys84=) single nucleotide variant not provided [RCV003713143] Chr16:1361890 [GRCh38]
Chr16:1411891 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.9G>T (p.Ala3=) single nucleotide variant not provided [RCV003663275] Chr16:1351974 [GRCh38]
Chr16:1401975 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.187dup (p.His63fs) duplication not provided [RCV003851157] Chr16:1361750..1361751 [GRCh38]
Chr16:1411751..1411752 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.741+12G>C single nucleotide variant not provided [RCV003740408] Chr16:1362754 [GRCh38]
Chr16:1412755 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.670G>T (p.Glu224Ter) single nucleotide variant not provided [RCV003580689] Chr16:1362671 [GRCh38]
Chr16:1412672 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.179-19A>T single nucleotide variant not provided [RCV003849510] Chr16:1361724 [GRCh38]
Chr16:1411725 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.110+17G>A single nucleotide variant not provided [RCV003579899] Chr16:1352176 [GRCh38]
Chr16:1402177 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.53-8C>T single nucleotide variant not provided [RCV003698392] Chr16:1352094 [GRCh38]
Chr16:1402095 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.741+11G>T single nucleotide variant not provided [RCV003810992] Chr16:1362753 [GRCh38]
Chr16:1412754 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.526+1G>C single nucleotide variant not provided [RCV003549963] Chr16:1362321 [GRCh38]
Chr16:1412322 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.411+20C>T single nucleotide variant not provided [RCV003832396] Chr16:1362151 [GRCh38]
Chr16:1412152 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.526+18A>G single nucleotide variant not provided [RCV003717954] Chr16:1362338 [GRCh38]
Chr16:1412339 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.110+10C>T single nucleotide variant not provided [RCV003702127] Chr16:1352169 [GRCh38]
Chr16:1402170 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.233+12G>C single nucleotide variant not provided [RCV003549271] Chr16:1361809 [GRCh38]
Chr16:1411810 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.741+13G>A single nucleotide variant not provided [RCV003856092] Chr16:1362755 [GRCh38]
Chr16:1412756 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.622T>C (p.Leu208=) single nucleotide variant not provided [RCV003549392] Chr16:1362623 [GRCh38]
Chr16:1412624 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.318-18G>T single nucleotide variant not provided [RCV003725280] Chr16:1362020 [GRCh38]
Chr16:1412021 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.736A>C (p.Arg246=) single nucleotide variant not provided [RCV003817515] Chr16:1362737 [GRCh38]
Chr16:1412738 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.317+18A>G single nucleotide variant not provided [RCV003673179] Chr16:1361973 [GRCh38]
Chr16:1411974 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.657A>G (p.Leu219=) single nucleotide variant not provided [RCV003659049] Chr16:1362658 [GRCh38]
Chr16:1412659 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.675T>C (p.Asn225=) single nucleotide variant not provided [RCV003726556] Chr16:1362676 [GRCh38]
Chr16:1412677 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.234-12C>T single nucleotide variant not provided [RCV003560471] Chr16:1361860 [GRCh38]
Chr16:1411861 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.780A>G (p.Lys260=) single nucleotide variant not provided [RCV003673366] Chr16:1362863 [GRCh38]
Chr16:1412864 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.318-19C>T single nucleotide variant not provided [RCV003702396] Chr16:1362019 [GRCh38]
Chr16:1412020 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.609+16G>A single nucleotide variant not provided [RCV003813754] Chr16:1362550 [GRCh38]
Chr16:1412551 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.317+14G>C single nucleotide variant not provided [RCV003837816] Chr16:1361969 [GRCh38]
Chr16:1411970 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.456C>A (p.Ser152=) single nucleotide variant not provided [RCV003724266] Chr16:1362250 [GRCh38]
Chr16:1412251 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.568C>T (p.Gln190Ter) single nucleotide variant not provided [RCV003838952] Chr16:1362493 [GRCh38]
Chr16:1412494 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.234-4C>G single nucleotide variant not provided [RCV003835213] Chr16:1361868 [GRCh38]
Chr16:1411869 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.110+8del deletion not provided [RCV003725804] Chr16:1352167 [GRCh38]
Chr16:1402168 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.318-14C>G single nucleotide variant not provided [RCV003856145] Chr16:1362024 [GRCh38]
Chr16:1412025 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.411+9_411+35del deletion not provided [RCV003559810] Chr16:1362134..1362160 [GRCh38]
Chr16:1412135..1412161 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.18G>T (p.Ala6=) single nucleotide variant not provided [RCV003701881] Chr16:1351983 [GRCh38]
Chr16:1401984 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.21G>A (p.Arg7=) single nucleotide variant not provided [RCV003817197] Chr16:1351986 [GRCh38]
Chr16:1401987 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.111-12C>T single nucleotide variant not provided [RCV003668005] Chr16:1352227 [GRCh38]
Chr16:1402228 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.741+9T>G single nucleotide variant not provided [RCV003559801] Chr16:1362751 [GRCh38]
Chr16:1412752 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.741+12G>T single nucleotide variant not provided [RCV003726029] Chr16:1362754 [GRCh38]
Chr16:1412755 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.178+1G>C single nucleotide variant not provided [RCV003856476] Chr16:1352307 [GRCh38]
Chr16:1402308 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.53-16G>T single nucleotide variant not provided [RCV003702061] Chr16:1352086 [GRCh38]
Chr16:1402087 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.823+16G>C single nucleotide variant not provided [RCV003549390] Chr16:1362922 [GRCh38]
Chr16:1412923 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.15_25dup (p.Leu9fs) duplication not provided [RCV003581060] Chr16:1351979..1351980 [GRCh38]
Chr16:1401980..1401981 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.609+1del deletion not provided [RCV003724233] Chr16:1362534 [GRCh38]
Chr16:1412535 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.141T>C (p.Ser47=) single nucleotide variant not provided [RCV003701512] Chr16:1352269 [GRCh38]
Chr16:1402270 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.412-16C>A single nucleotide variant not provided [RCV003700450] Chr16:1362190 [GRCh38]
Chr16:1412191 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.317+16G>T single nucleotide variant not provided [RCV003671335] Chr16:1361971 [GRCh38]
Chr16:1411972 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.317+2T>A single nucleotide variant not provided [RCV003700460] Chr16:1361957 [GRCh38]
Chr16:1411958 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.411+18A>G single nucleotide variant not provided [RCV003717736] Chr16:1362149 [GRCh38]
Chr16:1412150 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.111-17del deletion not provided [RCV003716869] Chr16:1352221 [GRCh38]
Chr16:1402222 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.609+11G>T single nucleotide variant not provided [RCV003659360] Chr16:1362545 [GRCh38]
Chr16:1412546 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.411+15G>T single nucleotide variant not provided [RCV003668767] Chr16:1362146 [GRCh38]
Chr16:1412147 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.582C>T (p.Asp194=) single nucleotide variant not provided [RCV003560524] Chr16:1362507 [GRCh38]
Chr16:1412508 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.126C>T (p.Phe42=) single nucleotide variant not provided [RCV003816496] Chr16:1352254 [GRCh38]
Chr16:1402255 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.608dup (p.His205fs) duplication not provided [RCV003704891] Chr16:1362532..1362533 [GRCh38]
Chr16:1412533..1412534 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.110+2T>C single nucleotide variant not provided [RCV003568747] Chr16:1352161 [GRCh38]
Chr16:1402162 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.54G>T (p.Gly18=) single nucleotide variant not provided [RCV003705905] Chr16:1352103 [GRCh38]
Chr16:1402104 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.523C>T (p.Leu175=) single nucleotide variant not provided [RCV003705999] Chr16:1362317 [GRCh38]
Chr16:1412318 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.52+16G>A single nucleotide variant not provided [RCV003845245] Chr16:1352033 [GRCh38]
Chr16:1402034 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.527-15C>T single nucleotide variant not provided [RCV003562393] Chr16:1362437 [GRCh38]
Chr16:1412438 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.233+11G>A single nucleotide variant not provided [RCV003729369] Chr16:1361808 [GRCh38]
Chr16:1411809 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.317+20G>C single nucleotide variant not provided [RCV003708953] Chr16:1361975 [GRCh38]
Chr16:1411976 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.342C>T (p.Ala114=) single nucleotide variant not provided [RCV003563425] Chr16:1362062 [GRCh38]
Chr16:1412063 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.412-14C>A single nucleotide variant not provided [RCV003861237] Chr16:1362192 [GRCh38]
Chr16:1412193 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.363_364insA (p.Trp122fs) insertion not provided [RCV003552574] Chr16:1362083..1362084 [GRCh38]
Chr16:1412084..1412085 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.53-2A>C single nucleotide variant not provided [RCV003563657] Chr16:1352100 [GRCh38]
Chr16:1402101 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.513C>G (p.Pro171=) single nucleotide variant not provided [RCV003677334] Chr16:1362307 [GRCh38]
Chr16:1412308 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.178+13C>A single nucleotide variant not provided [RCV003551962] Chr16:1352319 [GRCh38]
Chr16:1402320 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.52+15_52+36dup duplication not provided [RCV003678903] Chr16:1352029..1352030 [GRCh38]
Chr16:1402030..1402031 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.318-10G>C single nucleotide variant not provided [RCV003736198] Chr16:1362028 [GRCh38]
Chr16:1412029 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.52+7G>C single nucleotide variant not provided [RCV003567975] Chr16:1352024 [GRCh38]
Chr16:1402025 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.720G>A (p.Glu240=) single nucleotide variant not provided [RCV003820310] Chr16:1362721 [GRCh38]
Chr16:1412722 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.125_126delinsAG (p.Phe42Ter) indel not provided [RCV003562653] Chr16:1352253..1352254 [GRCh38]
Chr16:1402254..1402255 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.53-6C>T single nucleotide variant not provided [RCV003853049] Chr16:1352096 [GRCh38]
Chr16:1402097 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.459G>A (p.Glu153=) single nucleotide variant not provided [RCV003542710] Chr16:1362253 [GRCh38]
Chr16:1412254 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.741+8A>T single nucleotide variant not provided [RCV003727494] Chr16:1362750 [GRCh38]
Chr16:1412751 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.318-8C>T single nucleotide variant not provided [RCV003676859] Chr16:1362030 [GRCh38]
Chr16:1412031 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.741+11G>A single nucleotide variant not provided [RCV003675107] Chr16:1362753 [GRCh38]
Chr16:1412754 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.179-18G>A single nucleotide variant not provided [RCV003554094] Chr16:1361725 [GRCh38]
Chr16:1411726 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.537C>G (p.Thr179=) single nucleotide variant not provided [RCV003685117] Chr16:1362462 [GRCh38]
Chr16:1412463 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.318-15C>G single nucleotide variant not provided [RCV003557207] Chr16:1362023 [GRCh38]
Chr16:1412024 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.57C>G (p.Pro19=) single nucleotide variant not provided [RCV003869461] Chr16:1352106 [GRCh38]
Chr16:1402107 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.53-11G>A single nucleotide variant not provided [RCV003728365] Chr16:1352091 [GRCh38]
Chr16:1402092 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.129G>A (p.Leu43=) single nucleotide variant not provided [RCV003866808] Chr16:1352257 [GRCh38]
Chr16:1402258 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.291C>T (p.Arg97=) single nucleotide variant not provided [RCV003551993] Chr16:1361929 [GRCh38]
Chr16:1411930 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.526+16G>T single nucleotide variant not provided [RCV003737500] Chr16:1362336 [GRCh38]
Chr16:1412337 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.742-5G>C single nucleotide variant not provided [RCV003680926] Chr16:1362820 [GRCh38]
Chr16:1412821 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.693G>A (p.Glu231=) single nucleotide variant not provided [RCV003735960] Chr16:1362694 [GRCh38]
Chr16:1412695 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.19C>A (p.Arg7=) single nucleotide variant not provided [RCV003705555] Chr16:1351984 [GRCh38]
Chr16:1401985 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.16dup (p.Ala6fs) duplication not provided [RCV003737770] Chr16:1351979..1351980 [GRCh38]
Chr16:1401980..1401981 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.318-15C>T single nucleotide variant not provided [RCV003541984] Chr16:1362023 [GRCh38]
Chr16:1412024 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.234-19A>G single nucleotide variant not provided [RCV003721791] Chr16:1361853 [GRCh38]
Chr16:1411854 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.824-13G>C single nucleotide variant not provided [RCV003846419] Chr16:1362984 [GRCh38]
Chr16:1412985 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.742-11G>A single nucleotide variant not provided [RCV003846465] Chr16:1362814 [GRCh38]
Chr16:1412815 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.609+1G>A single nucleotide variant not provided [RCV003862612] Chr16:1362535 [GRCh38]
Chr16:1412536 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.111-5C>T single nucleotide variant not provided [RCV003681848] Chr16:1352234 [GRCh38]
Chr16:1402235 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.330G>A (p.Glu110=) single nucleotide variant not provided [RCV003542261] Chr16:1362050 [GRCh38]
Chr16:1412051 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.609+2T>G single nucleotide variant not provided [RCV003706117] Chr16:1362536 [GRCh38]
Chr16:1412537 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.741+16G>T single nucleotide variant not provided [RCV003729355] Chr16:1362758 [GRCh38]
Chr16:1412759 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.53-17G>T single nucleotide variant not provided [RCV003732903] Chr16:1352085 [GRCh38]
Chr16:1402086 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.610-13C>A single nucleotide variant not provided [RCV003711323] Chr16:1362598 [GRCh38]
Chr16:1412599 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.52+15C>T single nucleotide variant not provided [RCV003868521] Chr16:1352032 [GRCh38]
Chr16:1402033 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.526+19G>T single nucleotide variant not provided [RCV003557300] Chr16:1362339 [GRCh38]
Chr16:1412340 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.411+19G>A single nucleotide variant not provided [RCV003678691] Chr16:1362150 [GRCh38]
Chr16:1412151 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.52+18C>T single nucleotide variant not provided [RCV003738528] Chr16:1352035 [GRCh38]
Chr16:1402036 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.824-16C>G single nucleotide variant not provided [RCV003857180] Chr16:1362981 [GRCh38]
Chr16:1412982 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.526+17C>G single nucleotide variant not provided [RCV003731519] Chr16:1362337 [GRCh38]
Chr16:1412338 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.651C>G (p.Gly217=) single nucleotide variant not provided [RCV003866066] Chr16:1362652 [GRCh38]
Chr16:1412653 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.824-20G>C single nucleotide variant not provided [RCV003847807] Chr16:1362977 [GRCh38]
Chr16:1412978 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.111-16T>A single nucleotide variant not provided [RCV003681435] Chr16:1352223 [GRCh38]
Chr16:1402224 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.762G>A (p.Lys254=) single nucleotide variant not provided [RCV003675288] Chr16:1362845 [GRCh38]
Chr16:1412846 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.732C>T (p.Asn244=) single nucleotide variant not provided [RCV003863451] Chr16:1362733 [GRCh38]
Chr16:1412734 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.233+7G>A single nucleotide variant not provided [RCV003705904] Chr16:1361804 [GRCh38]
Chr16:1411805 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.158G>A (p.Arg53Lys) single nucleotide variant not provided [RCV003736274] Chr16:1352286 [GRCh38]
Chr16:1402287 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.610-6C>G single nucleotide variant not provided [RCV003731930] Chr16:1362605 [GRCh38]
Chr16:1412606 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.418C>T (p.Leu140=) single nucleotide variant not provided [RCV003733686] Chr16:1362212 [GRCh38]
Chr16:1412213 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.12G>A (p.Gly4=) single nucleotide variant not provided [RCV003555827] Chr16:1351977 [GRCh38]
Chr16:1401978 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.636_648del (p.Phe213fs) deletion not provided [RCV003706118] Chr16:1362635..1362647 [GRCh38]
Chr16:1412636..1412648 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.567C>T (p.Asp189=) single nucleotide variant not provided [RCV003729485] Chr16:1362492 [GRCh38]
Chr16:1412493 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.237C>T (p.Tyr79=) single nucleotide variant not provided [RCV003846341] Chr16:1361875 [GRCh38]
Chr16:1411876 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.53-4G>T single nucleotide variant not provided [RCV003732504] Chr16:1352098 [GRCh38]
Chr16:1402099 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.742-17_742-16del microsatellite not provided [RCV003727026] Chr16:1362806..1362807 [GRCh38]
Chr16:1412807..1412808 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.52+11C>T single nucleotide variant not provided [RCV003864316] Chr16:1352028 [GRCh38]
Chr16:1402029 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.461_465del (p.Pro154fs) microsatellite not provided [RCV003860761] Chr16:1362249..1362253 [GRCh38]
Chr16:1412250..1412254 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.234-5C>T single nucleotide variant not provided [RCV003730749] Chr16:1361867 [GRCh38]
Chr16:1411868 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.474C>T (p.Val158=) single nucleotide variant not provided [RCV003676233] Chr16:1362268 [GRCh38]
Chr16:1412269 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.912T>C (p.Ser304=) single nucleotide variant not provided [RCV003736007] Chr16:1363085 [GRCh38]
Chr16:1413086 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.816G>A (p.Arg272=) single nucleotide variant not provided [RCV003565172] Chr16:1362899 [GRCh38]
Chr16:1412900 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.317+13G>T single nucleotide variant not provided [RCV003678440] Chr16:1361968 [GRCh38]
Chr16:1411969 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.824-12G>C single nucleotide variant not provided [RCV003732914] Chr16:1362985 [GRCh38]
Chr16:1412986 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.412-20T>C single nucleotide variant not provided [RCV003553613] Chr16:1362186 [GRCh38]
Chr16:1412187 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.233+19C>A single nucleotide variant not provided [RCV003562724] Chr16:1361816 [GRCh38]
Chr16:1411817 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.202del (p.Ser68fs) deletion not provided [RCV003550871] Chr16:1361766 [GRCh38]
Chr16:1411767 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032520.5(GNPTG):c.178+16T>C single nucleotide variant not provided [RCV003562859] Chr16:1352322 [GRCh38]
Chr16:1402323 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.52+8dup duplication not provided [RCV003552809] Chr16:1352023..1352024 [GRCh38]
Chr16:1402024..1402025 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.553C>T (p.Gln185Ter) single nucleotide variant GNPTG-mucolipidosis [RCV003990072] Chr16:1362478 [GRCh38]
Chr16:1412479 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.15_23dup (p.Leu8_Leu9insAlaArgLeu) duplication not specified [RCV004527220] Chr16:1351975..1351976 [GRCh38]
Chr16:1401976..1401977 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.610-28G>C single nucleotide variant GNPTG-related disorder [RCV003954491] Chr16:1362583 [GRCh38]
Chr16:1412584 [GRCh37]
Chr16:16p13.3		 likely benign
NM_032520.5(GNPTG):c.725T>A (p.Leu242Gln) single nucleotide variant Inborn genetic diseases [RCV004395574] Chr16:1362726 [GRCh38]
Chr16:1412727 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.819_822del (p.Thr274fs) deletion GNPTG-mucolipidosis [RCV004547234] Chr16:1362902..1362905 [GRCh38]
Chr16:1412903..1412906 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.823_823+1insTGCT insertion GNPTG-mucolipidosis [RCV004547235] Chr16:1362906..1362907 [GRCh38]
Chr16:1412907..1412908 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(1557737_?)del deletion not provided [RCV004582850] Chr16:256302..1557737 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_1401967)_(1402327_?)del deletion not provided [RCV004582892] Chr16:1401967..1402327 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_1411724)_(1413092_?)del deletion not provided [RCV004582893] Chr16:1411724..1413092 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_1398579)_(1402009_?)del deletion not provided [RCV004582894] Chr16:1398579..1402009 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_1401373)_(1412477_?)del deletion not provided [RCV004582895] Chr16:1401373..1412477 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_1401967)_(1413092_?)del deletion not provided [RCV004582891] Chr16:1401967..1413092 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_339420)_(3767509_?)dup duplication Epilepsy [RCV004581460]|Idiopathic generalized epilepsy [RCV004581461] Chr16:339420..3767509 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.605C>A (p.Pro202His) single nucleotide variant Inborn genetic diseases [RCV004629929] Chr16:1362530 [GRCh38]
Chr16:1412531 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.527T>C (p.Val176Ala) single nucleotide variant Inborn genetic diseases [RCV004629930] Chr16:1362452 [GRCh38]
Chr16:1412453 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032520.5(GNPTG):c.916T>C (p.Ter306Arg) single nucleotide variant GNPTG-mucolipidosis [RCV004576138] Chr16:1363089 [GRCh38]
Chr16:1413090 [GRCh37]
Chr16:16p13.3		 likely pathogenic
NM_032520.5(GNPTG):c.411+5G>A single nucleotide variant not specified [RCV004766709] Chr16:1362136 [GRCh38]
Chr16:1412137 [GRCh37]
Chr16:16p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2157
Count of miRNA genes:916
Interacting mature miRNAs:1116
Transcripts:ENST00000204679, ENST00000526820, ENST00000527076, ENST00000527137, ENST00000527168, ENST00000527876, ENST00000529110, ENST00000529957, ENST00000534197
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406969555GWAS618531_Hn-acetylglucosamine-1-phosphotransferase subunit gamma measurement QTL GWAS618531 (human)1e-259n-acetylglucosamine-1-phosphotransferase subunit gamma measurement1613577911357792Human
406969556GWAS618532_Hn-acetylglucosamine-1-phosphotransferase subunit gamma measurement QTL GWAS618532 (human)0.000005n-acetylglucosamine-1-phosphotransferase subunit gamma measurement1613634261363427Human
406925607GWAS574583_Hblood protein measurement QTL GWAS574583 (human)8e-14blood protein measurementblood protein measurement (CMO:0000028)1613578081357809Human
407333116GWAS982092_Htype 2 diabetes mellitus QTL GWAS982092 (human)2e-21type 2 diabetes mellitus1613555361355537Human

Markers in Region
RH11799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,413,075 - 1,413,202UniSTSGRCh37
Build 36161,353,076 - 1,353,203RGDNCBI36
Celera161,627,189 - 1,627,316RGD
Cytogenetic Map16p13.3UniSTS
HuRef161,341,470 - 1,341,597UniSTS
GeneMap99-GB4 RH Map1645.13UniSTS
SHGC-61167  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,413,037 - 1,413,202UniSTSGRCh37
Build 36161,353,038 - 1,353,203RGDNCBI36
Celera161,627,151 - 1,627,316RGD
Cytogenetic Map16p13.3UniSTS
HuRef161,341,432 - 1,341,597UniSTS
GeneMap99-GB4 RH Map1630.02UniSTS
PMC289169P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,411,894 - 1,412,528UniSTSGRCh37
Build 36161,351,895 - 1,352,529RGDNCBI36
Celera161,626,008 - 1,626,642RGD
Cytogenetic Map16p13.3UniSTS
HuRef161,340,289 - 1,340,923UniSTS
PMC289169P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,412,478 - 1,413,118UniSTSGRCh37
Build 36161,352,479 - 1,353,119RGDNCBI36
Celera161,626,592 - 1,627,232RGD
Cytogenetic Map16p13.3UniSTS
HuRef161,340,873 - 1,341,513UniSTS
RH79802  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map2q31.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.2UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
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Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
UniSTS:486590  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371493,650,862 - 93,651,736UniSTSGRCh37
Celera1473,704,869 - 73,705,743UniSTS
HuRef1473,831,301 - 73,832,175UniSTS


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 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA513392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AE006467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF302786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY203933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU145878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX398427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD671181 (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
  DT219524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000204679   ⟹   ENSP00000204679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,351,931 - 1,364,113 (+)Ensembl
Ensembl Acc Id: ENST00000526820   ⟹   ENSP00000434413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,351,931 - 1,362,124 (+)Ensembl
Ensembl Acc Id: ENST00000527076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,360,623 - 1,363,350 (+)Ensembl
Ensembl Acc Id: ENST00000527137   ⟹   ENSP00000480060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,351,951 - 1,352,499 (+)Ensembl
Ensembl Acc Id: ENST00000527168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,351,946 - 1,364,387 (+)Ensembl
Ensembl Acc Id: ENST00000527876   ⟹   ENSP00000460728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,351,944 - 1,358,417 (+)Ensembl
Ensembl Acc Id: ENST00000529110   ⟹   ENSP00000435349
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,351,966 - 1,363,091 (+)Ensembl
Ensembl Acc Id: ENST00000529957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,352,071 - 1,364,303 (+)Ensembl
Ensembl Acc Id: ENST00000534197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,351,948 - 1,357,844 (+)Ensembl
Ensembl Acc Id: ENST00000683366   ⟹   ENSP00000507283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,351,940 - 1,364,387 (+)Ensembl
Ensembl Acc Id: ENST00000683887   ⟹   ENSP00000506886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,351,955 - 1,363,351 (+)Ensembl
Ensembl Acc Id: ENST00000684100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,361,645 - 1,364,387 (+)Ensembl
Ensembl Acc Id: ENST00000684126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,352,071 - 1,364,382 (+)Ensembl
Ensembl Acc Id: ENST00000684688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,360,940 - 1,365,737 (+)Ensembl
RefSeq Acc Id: NM_032520   ⟹   NP_115909
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,351,931 - 1,364,113 (+)NCBI
GRCh37161,401,900 - 1,413,352 (+)ENTREZGENE
Build 36161,341,933 - 1,353,353 (+)NCBI Archive
HuRef161,330,298 - 1,341,747 (+)ENTREZGENE
CHM1_1161,401,841 - 1,413,248 (+)NCBI
T2T-CHM13v2.0161,368,108 - 1,380,245 (+)NCBI
Sequence:
RefSeq Acc Id: NP_115909   ⟸   NM_032520
- Peptide Label: precursor
- UniProtKB: Q6XYD7 (UniProtKB/Swiss-Prot),   B2R556 (UniProtKB/Swiss-Prot),   Q96L13 (UniProtKB/Swiss-Prot),   Q9UJJ9 (UniProtKB/Swiss-Prot),   A0A804HI41 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000204679   ⟸   ENST00000204679
Ensembl Acc Id: ENSP00000434413   ⟸   ENST00000526820
Ensembl Acc Id: ENSP00000480060   ⟸   ENST00000527137
Ensembl Acc Id: ENSP00000460728   ⟸   ENST00000527876
Ensembl Acc Id: ENSP00000435349   ⟸   ENST00000529110
Ensembl Acc Id: ENSP00000507283   ⟸   ENST00000683366
Ensembl Acc Id: ENSP00000506886   ⟸   ENST00000683887
Protein Domains
DMAP1-binding   MRH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UJJ9-F1-model_v2 AlphaFold Q9UJJ9 1-305 view protein structure

Promoters
RGD ID:6792803
Promoter ID:HG_KWN:22688
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000109057,   OTTHUMT00000109058
Position:
Human AssemblyChrPosition (strand)Source
Build 36161,340,756 - 1,341,972 (-)MPROMDB
RGD ID:7230895
Promoter ID:EPDNEW_H21193
Type:initiation region
Name:GNPTG_1
Description:N-acetylglucosamine-1-phosphate transferase gamma subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,351,931 - 1,351,991EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23026 AgrOrtholog
COSMIC GNPTG COSMIC
Ensembl Genes ENSG00000090581 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000204679 ENTREZGENE
  ENST00000204679.9 UniProtKB/Swiss-Prot
  ENST00000526820.5 UniProtKB/TrEMBL
  ENST00000527137.2 UniProtKB/TrEMBL
  ENST00000529110.2 UniProtKB/TrEMBL
  ENST00000683366.1 UniProtKB/TrEMBL
  ENST00000683887.1 UniProtKB/TrEMBL
Gene3D-CATH 2.70.130.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000090581 GTEx
HGNC ID HGNC:23026 ENTREZGENE
Human Proteome Map GNPTG Human Proteome Map
InterPro DMAP1-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gtb1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Man6P_isomerase_rcpt-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MRH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OS9-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84572 UniProtKB/Swiss-Prot
NCBI Gene 84572 ENTREZGENE
OMIM 607838 OMIM
PANTHER PTHR12630 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12630:SF6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PRKCSH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134990433 PharmGKB
PROSITE DMAP1_BIND UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MRH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DMAP_binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50911 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WWA2_HUMAN UniProtKB/TrEMBL
  A0A804HI41 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HIZ1_HUMAN UniProtKB/TrEMBL
  A2VDJ4_HUMAN UniProtKB/TrEMBL
  B2R556 ENTREZGENE
  E9PQQ5_HUMAN UniProtKB/TrEMBL
  GNPTG_HUMAN UniProtKB/Swiss-Prot
  H0YEA7_HUMAN UniProtKB/TrEMBL
  Q6XYD7 ENTREZGENE
  Q96L13 ENTREZGENE
  Q9UJJ9 ENTREZGENE
UniProt Secondary B2R556 UniProtKB/Swiss-Prot
  Q6XYD7 UniProtKB/Swiss-Prot
  Q96L13 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 GNPTG  N-acetylglucosamine-1-phosphate transferase subunit gamma    N-acetylglucosamine-1-phosphate transferase gamma subunit  Symbol and/or name change 5135510 APPROVED
2016-03-16 GNPTG  N-acetylglucosamine-1-phosphate transferase gamma subunit  C16orf27  chromosome 16 open reading frame 27  Data merged from RGD:1344022 737654 PROVISIONAL
2016-03-14 GNPTG  N-acetylglucosamine-1-phosphate transferase gamma subunit  GNPTG  N-acetylglucosamine-1-phosphate transferase, gamma subunit  Symbol and/or name change 5135510 APPROVED