GALT (galactose-1-phosphate uridylyltransferase) - Rat Genome Database

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Gene: GALT (galactose-1-phosphate uridylyltransferase) Homo sapiens
Analyze
Symbol: GALT
Name: galactose-1-phosphate uridylyltransferase
RGD ID: 1315126
HGNC Page HGNC
Description: Exhibits UDP-glucose:hexose-1-phosphate uridylyltransferase activity and zinc ion binding activity. Involved in UDP-glucose metabolic process and galactose metabolic process. Localizes to Golgi apparatus. Implicated in classic galactosemia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: gal-1-P uridylyltransferase; galactose-1-phosphate uridyl transferase; UDP-glucose--hexose-1-phosphate uridylyltransferase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl934,638,133 - 34,651,035 (+)EnsemblGRCh38hg38GRCh38
GRCh38934,646,675 - 34,651,035 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37934,646,672 - 34,651,032 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36934,636,635 - 34,640,574 (+)NCBINCBI36hg18NCBI36
Build 34934,636,634 - 34,640,279NCBI
Celera934,578,106 - 34,582,045 (+)NCBI
Cytogenetic Map9p13.3NCBI
HuRef934,600,857 - 34,604,875 (+)NCBIHuRef
CHM1_1934,646,369 - 34,650,378 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA)
cytosol  (TAS)
Golgi apparatus  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal erythrocyte enzyme level  (IAGP)
Abnormality of coagulation  (IAGP)
Albuminuria  (IAGP)
Aminoaciduria  (IAGP)
Anxiety  (IAGP)
Ascites  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bone fracture  (IAGP)
Cataract  (IAGP)
Cirrhosis  (IAGP)
Clumsiness  (IAGP)
Cryptorchidism  (IAGP)
Decreased fertility in females  (IAGP)
Decreased liver function  (IAGP)
Decreased serum insulin-like growth factor 1  (IAGP)
Delayed puberty  (IAGP)
Delayed speech and language development  (IAGP)
Depressivity  (IAGP)
Diarrhea  (IAGP)
Dysarthria  (IAGP)
Dystonia  (IAGP)
Elevated hepatic transaminase  (IAGP)
Encephalopathy  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Food intolerance  (IAGP)
Gait imbalance  (IAGP)
Galactose intolerance  (IAGP)
Galactosuria  (IAGP)
Global developmental delay  (IAGP)
Grammar-specific speech disorder  (IAGP)
Hemolytic anemia  (IAGP)
Hepatic failure  (IAGP)
Hepatomegaly  (IAGP)
Hyperchloremic metabolic acidosis  (IAGP)
Hypergalactosemia  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hypoglycemia  (IAGP)
Increased level of galactitol in plasma  (IAGP)
Increased level of galactitol in red blood cells  (IAGP)
Increased level of galactitol in urine  (IAGP)
Increased level of galactonate in red blood cells  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Jaundice  (IAGP)
Lethargy  (IAGP)
Low levels of vitamin D  (IAGP)
Male infertility  (IAGP)
Mental deterioration  (IAGP)
Metabolic acidosis  (IAGP)
Oligomenorrhea  (IAGP)
Osteoporosis  (IAGP)
Postural tremor  (IAGP)
Premature ovarian insufficiency  (IAGP)
Primary amenorrhea  (IAGP)
Secondary amenorrhea  (IAGP)
Seizure  (IAGP)
Sepsis  (IAGP)
Specific learning disability  (IAGP)
Speech apraxia  (IAGP)
Speech articulation difficulties  (IAGP)
Vomiting  (IAGP)
References

Additional References at PubMed
PMID:1301925   PMID:1373122   PMID:1427861   PMID:1610789   PMID:1897530   PMID:2011574   PMID:2233247   PMID:2840550   PMID:4759900   PMID:6095663   PMID:7550229   PMID:7671959  
PMID:7887416   PMID:7887417   PMID:7957929   PMID:8112740   PMID:8198125   PMID:8499924   PMID:8551426   PMID:8598637   PMID:8741038   PMID:8869397   PMID:8892021   PMID:8943248  
PMID:8956044   PMID:9012409   PMID:9222760   PMID:9472029   PMID:9632650   PMID:10220154   PMID:10408771   PMID:10424825   PMID:10439960   PMID:10884393   PMID:11181995   PMID:11479743  
PMID:11511927   PMID:11678552   PMID:11704127   PMID:11919338   PMID:11936817   PMID:12119013   PMID:12370157   PMID:12477932   PMID:12521227   PMID:12606594   PMID:12851678   PMID:12869412  
PMID:14614623   PMID:14702039   PMID:14707519   PMID:15308134   PMID:15489334   PMID:15506833   PMID:15749517   PMID:15841485   PMID:16009197   PMID:16125333   PMID:16189514   PMID:16274605  
PMID:16344560   PMID:16416427   PMID:16507021   PMID:16595241   PMID:17041746   PMID:17143577   PMID:17207965   PMID:17303100   PMID:17486650   PMID:17876724   PMID:18029348   PMID:18089596  
PMID:18210213   PMID:18454942   PMID:18956253   PMID:19224951   PMID:19646668   PMID:20008339   PMID:20151200   PMID:20222886   PMID:20237496   PMID:20301334   PMID:20301691   PMID:20547145  
PMID:20605918   PMID:20734064   PMID:20800603   PMID:21059483   PMID:21188552   PMID:21873635   PMID:22749219   PMID:22798028   PMID:22944367   PMID:22963887   PMID:23022339   PMID:23583749  
PMID:23690308   PMID:23924834   PMID:24045215   PMID:25052314   PMID:25124065   PMID:25268296   PMID:25416956   PMID:25473725   PMID:25592817   PMID:25910212   PMID:25920691   PMID:26186194  
PMID:26871637   PMID:27005423   PMID:27308838   PMID:28374897   PMID:28450132   PMID:28514442   PMID:28644047   PMID:28816213   PMID:29252199   PMID:30172461   PMID:31194682   PMID:31194895  
PMID:32296183  


Genomics

Comparative Map Data
GALT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl934,638,133 - 34,651,035 (+)EnsemblGRCh38hg38GRCh38
GRCh38934,646,675 - 34,651,035 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37934,646,672 - 34,651,032 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36934,636,635 - 34,640,574 (+)NCBINCBI36hg18NCBI36
Build 34934,636,634 - 34,640,279NCBI
Celera934,578,106 - 34,582,045 (+)NCBI
Cytogenetic Map9p13.3NCBI
HuRef934,600,857 - 34,604,875 (+)NCBIHuRef
CHM1_1934,646,369 - 34,650,378 (+)NCBICHM1_1
Galt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39441,755,517 - 41,759,243 (+)NCBIGRCm39mm39
GRCm39 Ensembl441,755,228 - 41,758,695 (+)Ensembl
GRCm38441,755,517 - 41,759,243 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl441,755,228 - 41,758,695 (+)EnsemblGRCm38mm10GRCm38
MGSCv37441,702,126 - 41,705,998 (+)NCBIGRCm37mm9NCBIm37
MGSCv36441,944,015 - 41,947,191 (+)NCBImm8
Celera441,416,035 - 41,419,907 (+)NCBICelera
Cytogenetic Map4A5NCBI
cM Map422.07NCBI
Galt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2556,927,039 - 56,930,284 (+)NCBI
Rnor_6.0 Ensembl558,144,705 - 58,147,929 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0558,144,679 - 58,147,946 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0562,669,071 - 62,672,312 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4559,185,418 - 59,188,642 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1559,185,596 - 59,188,821 (+)NCBI
Celera555,519,202 - 55,522,426 (+)NCBICelera
Cytogenetic Map5q22NCBI
Galt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554721,487,173 - 1,490,986 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554721,487,173 - 1,490,548 (-)NCBIChiLan1.0ChiLan1.0
GALT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1935,291,695 - 35,295,835 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0934,483,170 - 34,487,170 (+)NCBIMhudiblu_PPA_v0panPan3
GALT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11151,319,812 - 51,323,337 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1151,319,347 - 51,334,802 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1149,948,167 - 49,951,692 (+)NCBI
ROS_Cfam_1.01152,260,552 - 52,264,077 (+)NCBI
UMICH_Zoey_3.11150,923,255 - 50,926,780 (+)NCBI
UNSW_CanFamBas_1.01150,791,395 - 50,794,920 (+)NCBI
UU_Cfam_GSD_1.01151,556,170 - 51,559,695 (+)NCBI
Galt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947166,178,746 - 166,182,469 (+)NCBI
SpeTri2.0NW_0049365242,726,795 - 2,730,049 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GALT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1032,151,173 - 32,154,743 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11032,151,150 - 32,154,792 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21036,291,000 - 36,294,635 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GALT
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11245,970,655 - 45,974,669 (-)NCBI
ChlSab1.1 Ensembl1245,970,794 - 45,974,581 (-)Ensembl
Galt
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473639,040,139 - 39,043,449 (+)NCBI

Position Markers
D9S1978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37934,650,415 - 34,650,521UniSTSGRCh37
Build 36934,640,415 - 34,640,521RGDNCBI36
Celera934,581,886 - 34,581,992RGD
Cytogenetic Map9p13UniSTS
HuRef934,604,695 - 34,604,801UniSTS
GeneMap99-GB4 RH Map9137.88UniSTS
Whitehead-RH Map9145.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7008
Count of miRNA genes:1116
Interacting mature miRNAs:1452
Transcripts:ENST00000378842, ENST00000450095, ENST00000465543, ENST00000468099, ENST00000472111, ENST00000473506, ENST00000473529, ENST00000485531, ENST00000487381, ENST00000488412, ENST00000489643, ENST00000554085, ENST00000554139, ENST00000554330, ENST00000554550, ENST00000554638, ENST00000554897, ENST00000554944, ENST00000555020, ENST00000555086, ENST00000555214, ENST00000555754, ENST00000556157, ENST00000556244, ENST00000556403, ENST00000556494, ENST00000557541, ENST00000557706, ENST00000605275
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2343 2500 1698 606 1320 446 4021 1822 3137 317 1356 1461 166 1186 2532 4
Low 96 491 28 18 631 19 335 375 597 102 104 152 9 1 18 256 2 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI292159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY007200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI910081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA011092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ355273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ403669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ403670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ403671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ857129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ857130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU129564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU129565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ412987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ637434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L46724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M96264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000378842   ⟹   ENSP00000368119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,675 - 34,651,035 (+)Ensembl
RefSeq Acc Id: ENST00000450095   ⟹   ENSP00000401956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,589 - 34,650,598 (+)Ensembl
RefSeq Acc Id: ENST00000465543
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,668 - 34,648,171 (+)Ensembl
RefSeq Acc Id: ENST00000468099
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,633 - 34,647,517 (+)Ensembl
RefSeq Acc Id: ENST00000472111
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,664 - 34,648,486 (+)Ensembl
RefSeq Acc Id: ENST00000473506   ⟹   ENSP00000432839
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,638 - 34,648,894 (+)Ensembl
RefSeq Acc Id: ENST00000473529
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,658 - 34,648,828 (+)Ensembl
RefSeq Acc Id: ENST00000485531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,845 - 34,648,376 (+)Ensembl
RefSeq Acc Id: ENST00000487381
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,679 - 34,648,826 (+)Ensembl
RefSeq Acc Id: ENST00000488412
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,648,922 - 34,650,583 (+)Ensembl
RefSeq Acc Id: ENST00000489643
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,675 - 34,650,116 (+)Ensembl
RefSeq Acc Id: ENST00000554085   ⟹   ENSP00000450419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,677 - 34,649,022 (+)Ensembl
RefSeq Acc Id: ENST00000554139
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,652 - 34,648,381 (+)Ensembl
RefSeq Acc Id: ENST00000554330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,789 - 34,647,849 (+)Ensembl
RefSeq Acc Id: ENST00000554550   ⟹   ENSP00000451435
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,636 - 34,650,529 (+)Ensembl
RefSeq Acc Id: ENST00000554638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,681 - 34,650,549 (+)Ensembl
RefSeq Acc Id: ENST00000554897   ⟹   ENSP00000450942
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,675 - 34,648,375 (+)Ensembl
RefSeq Acc Id: ENST00000554944
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,675 - 34,648,389 (+)Ensembl
RefSeq Acc Id: ENST00000555020
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,675 - 34,650,282 (+)Ensembl
RefSeq Acc Id: ENST00000555086
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,782 - 34,649,130 (+)Ensembl
RefSeq Acc Id: ENST00000555214
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,696 - 34,648,637 (+)Ensembl
RefSeq Acc Id: ENST00000555754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,648,425 - 34,650,588 (+)Ensembl
RefSeq Acc Id: ENST00000556157
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,900 - 34,647,762 (+)Ensembl
RefSeq Acc Id: ENST00000556244   ⟹   ENSP00000451756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,647,123 - 34,648,894 (+)Ensembl
RefSeq Acc Id: ENST00000556403
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,773 - 34,647,794 (+)Ensembl
RefSeq Acc Id: ENST00000556494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,806 - 34,648,512 (+)Ensembl
RefSeq Acc Id: ENST00000557541
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,645 - 34,647,905 (+)Ensembl
RefSeq Acc Id: ENST00000557706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,646,893 - 34,650,562 (+)Ensembl
RefSeq Acc Id: ENST00000605275
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl934,638,133 - 34,647,146 (+)Ensembl
RefSeq Acc Id: NM_000155   ⟹   NP_000146
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,646,675 - 34,651,035 (+)NCBI
GRCh37934,646,586 - 34,650,595 (+)NCBI
Build 36934,636,635 - 34,640,574 (+)NCBI Archive
HuRef934,600,857 - 34,604,875 (+)NCBI
CHM1_1934,646,369 - 34,650,378 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001258332   ⟹   NP_001245261
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,646,675 - 34,651,035 (+)NCBI
GRCh37934,646,586 - 34,650,595 (+)NCBI
HuRef934,600,857 - 34,604,875 (+)NCBI
CHM1_1934,646,369 - 34,650,378 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000146 (Get FASTA)   NCBI Sequence Viewer  
  NP_001245261 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA74450 (Get FASTA)   NCBI Sequence Viewer  
  AAA81539 (Get FASTA)   NCBI Sequence Viewer  
  AAA81540 (Get FASTA)   NCBI Sequence Viewer  
  AAA81541 (Get FASTA)   NCBI Sequence Viewer  
  AAA81542 (Get FASTA)   NCBI Sequence Viewer  
  AAA81543 (Get FASTA)   NCBI Sequence Viewer  
  AAA81544 (Get FASTA)   NCBI Sequence Viewer  
  AAA81545 (Get FASTA)   NCBI Sequence Viewer  
  AAA81546 (Get FASTA)   NCBI Sequence Viewer  
  AAA81547 (Get FASTA)   NCBI Sequence Viewer  
  AAA81548 (Get FASTA)   NCBI Sequence Viewer  
  AAA81549 (Get FASTA)   NCBI Sequence Viewer  
  AAA82086 (Get FASTA)   NCBI Sequence Viewer  
  AAA82087 (Get FASTA)   NCBI Sequence Viewer  
  AAA82088 (Get FASTA)   NCBI Sequence Viewer  
  AAB59578 (Get FASTA)   NCBI Sequence Viewer  
  AAB59584 (Get FASTA)   NCBI Sequence Viewer  
  AAB59585 (Get FASTA)   NCBI Sequence Viewer  
  AAB59586 (Get FASTA)   NCBI Sequence Viewer  
  AAB59587 (Get FASTA)   NCBI Sequence Viewer  
  AAB59588 (Get FASTA)   NCBI Sequence Viewer  
  AAB59589 (Get FASTA)   NCBI Sequence Viewer  
  AAB59590 (Get FASTA)   NCBI Sequence Viewer  
  AAB59591 (Get FASTA)   NCBI Sequence Viewer  
  AAB59592 (Get FASTA)   NCBI Sequence Viewer  
  AAB59593 (Get FASTA)   NCBI Sequence Viewer  
  AAB59594 (Get FASTA)   NCBI Sequence Viewer  
  AAB59595 (Get FASTA)   NCBI Sequence Viewer  
  AAB59596 (Get FASTA)   NCBI Sequence Viewer  
  AAB59597 (Get FASTA)   NCBI Sequence Viewer  
  AAB59598 (Get FASTA)   NCBI Sequence Viewer  
  AAB59599 (Get FASTA)   NCBI Sequence Viewer  
  AAB59600 (Get FASTA)   NCBI Sequence Viewer  
  AAB59601 (Get FASTA)   NCBI Sequence Viewer  
  AAB59602 (Get FASTA)   NCBI Sequence Viewer  
  AAB59603 (Get FASTA)   NCBI Sequence Viewer  
  AAB59604 (Get FASTA)   NCBI Sequence Viewer  
  AAB59605 (Get FASTA)   NCBI Sequence Viewer  
  AAB59606 (Get FASTA)   NCBI Sequence Viewer  
  AAB59607 (Get FASTA)   NCBI Sequence Viewer  
  AAB59608 (Get FASTA)   NCBI Sequence Viewer  
  AAB59609 (Get FASTA)   NCBI Sequence Viewer  
  AAC83409 (Get FASTA)   NCBI Sequence Viewer  
  AAG09625 (Get FASTA)   NCBI Sequence Viewer  
  AAH15045 (Get FASTA)   NCBI Sequence Viewer  
  AAP88854 (Get FASTA)   NCBI Sequence Viewer  
  ACT46750 (Get FASTA)   NCBI Sequence Viewer  
  ACU65382 (Get FASTA)   NCBI Sequence Viewer  
  ACU65383 (Get FASTA)   NCBI Sequence Viewer  
  ACU65384 (Get FASTA)   NCBI Sequence Viewer  
  ACW83018 (Get FASTA)   NCBI Sequence Viewer  
  ACW83019 (Get FASTA)   NCBI Sequence Viewer  
  ACY72208 (Get FASTA)   NCBI Sequence Viewer  
  ACY72209 (Get FASTA)   NCBI Sequence Viewer  
  ADR32098 (Get FASTA)   NCBI Sequence Viewer  
  AEG76934 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33547 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33548 (Get FASTA)   NCBI Sequence Viewer  
  BAC04678 (Get FASTA)   NCBI Sequence Viewer  
  BAG36983 (Get FASTA)   NCBI Sequence Viewer  
  BAG53219 (Get FASTA)   NCBI Sequence Viewer  
  BAG56752 (Get FASTA)   NCBI Sequence Viewer  
  BAG61874 (Get FASTA)   NCBI Sequence Viewer  
  BAG64359 (Get FASTA)   NCBI Sequence Viewer  
  EAW58426 (Get FASTA)   NCBI Sequence Viewer  
  EAW58427 (Get FASTA)   NCBI Sequence Viewer  
  EAW58428 (Get FASTA)   NCBI Sequence Viewer  
  EAW58429 (Get FASTA)   NCBI Sequence Viewer  
  EAW58430 (Get FASTA)   NCBI Sequence Viewer  
  P07902 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000146   ⟸   NM_000155
- Peptide Label: isoform 1
- UniProtKB: P07902 (UniProtKB/Swiss-Prot),   A0A0S2Z3Y7 (UniProtKB/TrEMBL),   B2RAT6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245261   ⟸   NM_001258332
- Peptide Label: isoform 2
- UniProtKB: P07902 (UniProtKB/Swiss-Prot),   B2RAT6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000451756   ⟸   ENST00000556244
RefSeq Acc Id: ENSP00000401956   ⟸   ENST00000450095
RefSeq Acc Id: ENSP00000368119   ⟸   ENST00000378842
RefSeq Acc Id: ENSP00000432839   ⟸   ENST00000473506
RefSeq Acc Id: ENSP00000451435   ⟸   ENST00000554550
RefSeq Acc Id: ENSP00000450942   ⟸   ENST00000554897
RefSeq Acc Id: ENSP00000450419   ⟸   ENST00000554085
Protein Domains
GalP_UDP_tr_C   GalP_UDP_transf

Promoters
RGD ID:6808256
Promoter ID:HG_KWN:63022
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000360710,   ENST00000378892,   OTTHUMT00000052204,   OTTHUMT00000052208,   OTTHUMT00000052209,   OTTHUMT00000052210,   OTTHUMT00000052230,   OTTHUMT00000251704,   UC003ZVA.2,   UC003ZVD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36934,626,956 - 34,628,062 (-)MPROMDB
RGD ID:6807635
Promoter ID:HG_KWN:63023
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:ENST00000378846,   OTTHUMT00000052231,   OTTHUMT00000052232,   OTTHUMT00000052233,   OTTHUMT00000052234,   OTTHUMT00000052235,   OTTHUMT00000052236,   OTTHUMT00000052238,   OTTHUMT00000251702,   UC003ZVF.1,   UC003ZVG.1,   UC003ZVH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36934,636,401 - 34,636,902 (+)MPROMDB
RGD ID:7214929
Promoter ID:EPDNEW_H13210
Type:initiation region
Name:GALT_1
Description:galactose-1-phosphate uridylyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13211  EPDNEW_H13212  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,646,675 - 34,646,735EPDNEW
RGD ID:7214931
Promoter ID:EPDNEW_H13211
Type:initiation region
Name:GALT_2
Description:galactose-1-phosphate uridylyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13210  EPDNEW_H13212  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,647,095 - 34,647,155EPDNEW
RGD ID:7214933
Promoter ID:EPDNEW_H13212
Type:initiation region
Name:GALT_3
Description:galactose-1-phosphate uridylyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13210  EPDNEW_H13211  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,647,810 - 34,647,870EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
M60091.1:c.772C>T single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022200] Chr9:9p13 pathogenic
NG_009029.1:g.(?_4752)_(?_9014) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022035]   pathogenic
NG_009029.1:g.[4026_7188del; 7307insGAATAGACCCCA; g.7308_9602del] indel Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022036]   pathogenic
NM_000155.4(GALT):c.377+53_1059+87del deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022096] Chr9:34647755..34649648 [GRCh38]
Chr9:34647752..34649645 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.759A>N (p.Thr253=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022196] Chr9:34648833 [GRCh38]
Chr9:34648830 [GRCh37]
Chr9:9p13.3
benign
M60091.1:c.761insT? insertion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022197] Chr9:9p13 pathogenic
M60091.1:c.775C>T? variation Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022201] Chr9:9p13 pathogenic
NM_000155.3(GALT):c.1078_1083delGCACTTins20 (p.?) indel Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022277] Chr9:34650387..34650392 [GRCh38]
Chr9:34650384..34650389 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.291C>G (p.Asn97Lys) single nucleotide variant not provided [RCV000728274] Chr9:34647530 [GRCh38]
Chr9:34647527 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.1A>G (p.Met1Val) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022038] Chr9:34646705 [GRCh38]
Chr9:34646702 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.18del (p.Asp7fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022039] Chr9:34646721 [GRCh38]
Chr9:34646718 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.25C>T (p.Gln9Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022040] Chr9:34646729 [GRCh38]
Chr9:34646726 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.27G>C (p.Gln9His) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022041] Chr9:34646731 [GRCh38]
Chr9:34646728 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.33C>T (p.Arg11=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022042] Chr9:34646737 [GRCh38]
Chr9:34646734 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs) indel Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022043]|not provided [RCV000723461] Chr9:34646745 [GRCh38]
Chr9:34646742 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.67A>G (p.Thr23Ala) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022044] Chr9:34646771 [GRCh38]
Chr9:34646768 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.82G>T (p.Asp28Tyr) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022046] Chr9:34646786 [GRCh38]
Chr9:34646783 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.82G>C (p.Asp28His) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022047] Chr9:34646786 [GRCh38]
Chr9:34646783 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.90G>C (p.Gln30His) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022048] Chr9:34647096 [GRCh38]
Chr9:34647093 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.91C>A (p.His31Asn) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022049]|not provided [RCV000585998] Chr9:34647097 [GRCh38]
Chr9:34647094 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.95T>A (p.Ile32Asn) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022050] Chr9:34647101 [GRCh38]
Chr9:34647098 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.98G>A (p.Arg33His) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022051] Chr9:34647104 [GRCh38]
Chr9:34647101 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022052]|not provided [RCV000726020] Chr9:34647106 [GRCh38]
Chr9:34647103 [GRCh37]
Chr9:9p13.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.107C>T (p.Pro36Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022053]|not provided [RCV000175533] Chr9:34647113 [GRCh38]
Chr9:34647110 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.113A>C (p.Gln38Pro) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022054] Chr9:34647119 [GRCh38]
Chr9:34647116 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.117T>C (p.Asp39=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022055] Chr9:34647123 [GRCh38]
Chr9:34647120 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.130G>T (p.Val44Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022056] Chr9:34647136 [GRCh38]
Chr9:34647133 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.136_140del (p.Ala46fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022058] Chr9:34647139..34647143 [GRCh38]
Chr9:34647136..34647140 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.134C>T (p.Ser45Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022059]|not provided [RCV000078214] Chr9:34647140 [GRCh38]
Chr9:34647137 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.152G>T (p.Arg51Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022060] Chr9:34647158 [GRCh38]
Chr9:34647155 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.152G>A (p.Arg51Gln) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022061] Chr9:34647158 [GRCh38]
Chr9:34647155 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.160C>T (p.Gln54Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022062] Chr9:34647166 [GRCh38]
Chr9:34647163 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.163G>T (p.Gly55Cys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022063]|not provided [RCV000767304] Chr9:34647169 [GRCh38]
Chr9:34647166 [GRCh37]
Chr9:9p13.3
pathogenic|not provided
NM_000155.4(GALT):c.197C>A (p.Pro66His) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022065]|not provided [RCV000767308] Chr9:34647203 [GRCh38]
Chr9:34647200 [GRCh37]
Chr9:9p13.3
pathogenic|not provided
NM_000155.4(GALT):c.197C>T (p.Pro66Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022066]|Galactosemia [RCV001276262]|not provided [RCV000767307]|not specified [RCV001194273] Chr9:34647203 [GRCh38]
Chr9:34647200 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance|not provided
NM_000155.4(GALT):c.199C>T (p.Arg67Cys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022067]|not provided [RCV000723719] Chr9:34647205 [GRCh38]
Chr9:34647202 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.207_214del (p.Asp69fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022068] Chr9:34647212..34647219 [GRCh38]
Chr9:34647209..34647216 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.220_221insG (p.Leu74fs) insertion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022069] Chr9:34647226..34647227 [GRCh38]
Chr9:34647223..34647224 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.238C>T (p.Arg80Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022070] Chr9:34647244 [GRCh38]
Chr9:34647241 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.241G>A (p.Ala81Thr) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022071]|not provided [RCV000723449] Chr9:34647247 [GRCh38]
Chr9:34647244 [GRCh37]
Chr9:9p13.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.247G>A (p.Gly83Arg) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022072] Chr9:34647253 [GRCh38]
Chr9:34647250 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.253-2A>G single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022073]|not provided [RCV000185912] Chr9:34647490 [GRCh38]
Chr9:34647487 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022074]|not provided [RCV000482282] Chr9:34647504 [GRCh38]
Chr9:34647501 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.265T>C (p.Tyr89His) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022075] Chr9:34647504 [GRCh38]
Chr9:34647501 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.285T>G (p.Phe95Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022076] Chr9:34647524 [GRCh38]
Chr9:34647521 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.290A>G (p.Asn97Ser) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022077]|not provided [RCV000723577] Chr9:34647529 [GRCh38]
Chr9:34647526 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.367C>G (p.Arg123Gly) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022078] Chr9:34647695 [GRCh38]
Chr9:34647692 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022079]|not provided [RCV000723399] Chr9:34647531 [GRCh38]
Chr9:34647528 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.292G>C (p.Asp98His) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022080]|not provided [RCV000790788] Chr9:34647531 [GRCh38]
Chr9:34647528 [GRCh37]
Chr9:9p13.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.328+2T>C single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022081] Chr9:34647569 [GRCh38]
Chr9:34647566 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.328+29G>C single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022082] Chr9:34647596 [GRCh38]
Chr9:34647593 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.308A>G (p.Gln103Arg) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022083] Chr9:34647547 [GRCh38]
Chr9:34647544 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.309G>A (p.Gln103=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022084] Chr9:34647548 [GRCh38]
Chr9:34647545 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.329-2A>C single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022085]|not provided [RCV000505778] Chr9:34647655 [GRCh38]
Chr9:34647652 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.330A>T (p.Gly110=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022086] Chr9:34647658 [GRCh38]
Chr9:34647655 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.336T>C (p.Ser112=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022088] Chr9:34647664 [GRCh38]
Chr9:34647661 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.337G>A (p.Asp113Asn) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022089] Chr9:34647665 [GRCh38]
Chr9:34647662 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.341A>T (p.His114Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022090] Chr9:34647669 [GRCh38]
Chr9:34647666 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.350T>C (p.Phe117Ser) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022091] Chr9:34647678 [GRCh38]
Chr9:34647675 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.354A>C (p.Gln118His) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022092] Chr9:34647682 [GRCh38]
Chr9:34647679 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.368G>A (p.Arg123Gln) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022093] Chr9:34647696 [GRCh38]
Chr9:34647693 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.374T>C (p.Val125Ala) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022094] Chr9:34647702 [GRCh38]
Chr9:34647699 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.377+1G>T single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022095]|Galactosemia [RCV001250222] Chr9:34647706 [GRCh38]
Chr9:34647703 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.378-27G>C single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022097]|Galactosemia [RCV001276265]|not specified [RCV000247789] Chr9:34647805 [GRCh38]
Chr9:34647802 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022098]|not provided [RCV000723539] Chr9:34647833 [GRCh38]
Chr9:34647830 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.386T>C (p.Met129Thr) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022099]|not provided [RCV000724284] Chr9:34647840 [GRCh38]
Chr9:34647837 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.389G>A (p.Cys130Tyr) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022100]|not provided [RCV000270852] Chr9:34647843 [GRCh38]
Chr9:34647840 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.392T>G (p.Phe131Cys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022101] Chr9:34647846 [GRCh38]
Chr9:34647843 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.394C>T (p.His132Tyr) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022102] Chr9:34647848 [GRCh38]
Chr9:34647845 [GRCh37]
Chr9:9p13.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.396C>A (p.His132Gln) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022103]|not provided [RCV000723453] Chr9:34647850 [GRCh38]
Chr9:34647847 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.400del (p.Trp134fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022104]|not provided [RCV000756198] Chr9:34647854 [GRCh38]
Chr9:34647851 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.404C>G (p.Ser135Trp) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022105] Chr9:34647858 [GRCh38]
Chr9:34647855 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000155.4(GALT):c.410dup (p.Thr138fs) duplication Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022106] Chr9:34647863..34647864 [GRCh38]
Chr9:34647860..34647861 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.413C>T (p.Thr138Met) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022107] Chr9:34647867 [GRCh38]
Chr9:34647864 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.416T>C (p.Leu139Pro) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022108] Chr9:34647870 [GRCh38]
Chr9:34647867 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.424A>G (p.Met142Val) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022109] Chr9:34647878 [GRCh38]
Chr9:34647875 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.425T>C (p.Met142Thr) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022110] Chr9:34647879 [GRCh38]
Chr9:34647876 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.428C>T (p.Ser143Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022111] Chr9:34647882 [GRCh38]
Chr9:34647879 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.442C>G (p.Arg148Gly) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022112] Chr9:34647896 [GRCh38]
Chr9:34647893 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.442C>T (p.Arg148Trp) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022113]|not provided [RCV000414362] Chr9:34647896 [GRCh38]
Chr9:34647893 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022114]|not provided [RCV000723398] Chr9:34647897 [GRCh38]
Chr9:34647894 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.448G>C (p.Val150Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022115] Chr9:34647902 [GRCh38]
Chr9:34647899 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.452T>C (p.Val151Ala) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022116]|not specified [RCV000505985] Chr9:34647906 [GRCh38]
Chr9:34647903 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.460T>G (p.Trp154Gly) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022117] Chr9:34647914 [GRCh38]
Chr9:34647911 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.460T>C (p.Trp154Arg) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022118] Chr9:34647914 [GRCh38]
Chr9:34647911 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.462G>A (p.Trp154Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022119] Chr9:34647916 [GRCh38]
Chr9:34647913 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.482T>C (p.Leu161Pro) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022120] Chr9:34647936 [GRCh38]
Chr9:34647933 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.490C>T (p.Gln164Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022121] Chr9:34647944 [GRCh38]
Chr9:34647941 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.495C>T (p.Tyr165=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022122] Chr9:34647949 [GRCh38]
Chr9:34647946 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.496C>G (p.Pro166Ala) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022123] Chr9:34647950 [GRCh38]
Chr9:34647947 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.499T>C (p.Trp167Arg) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022124] Chr9:34647953 [GRCh38]
Chr9:34647950 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.502G>T (p.Val168Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022125] Chr9:34647956 [GRCh38]
Chr9:34647953 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000155.4(GALT):c.505C>A (p.Gln169Lys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022126] Chr9:34647959 [GRCh38]
Chr9:34647956 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.507+2T>C single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022127] Chr9:34647963 [GRCh38]
Chr9:34647960 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.507+62G>A single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022128]|Galactosemia [RCV001276267] Chr9:34648023 [GRCh38]
Chr9:34648020 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.508-38T>C single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022129] Chr9:34648077 [GRCh38]
Chr9:34648074 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.508-29del deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022130] Chr9:34648086 [GRCh38]
Chr9:34648083 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.508-24G>A single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022131]|Galactosemia [RCV001276268]|not specified [RCV000252524] Chr9:34648091 [GRCh38]
Chr9:34648088 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.508-11C>A single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022132] Chr9:34648104 [GRCh38]
Chr9:34648101 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.508-11C>G single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022133] Chr9:34648104 [GRCh38]
Chr9:34648101 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.508-5G>C single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022134] Chr9:34648110 [GRCh38]
Chr9:34648107 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.509T>C (p.Ile170Thr) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022135] Chr9:34648116 [GRCh38]
Chr9:34648113 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.509T>A (p.Ile170Asn) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022136] Chr9:34648116 [GRCh38]
Chr9:34648113 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.510C>T (p.Ile170=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022137] Chr9:34648117 [GRCh38]
Chr9:34648114 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.524G>A (p.Gly175Asp) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022139]|Galactosemia [RCV001276270]|not specified [RCV000507314] Chr9:34648131 [GRCh38]
Chr9:34648128 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.528_529insG (p.Met177fs) insertion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022140] Chr9:34648135..34648136 [GRCh38]
Chr9:34648132..34648133 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.536G>A (p.Gly179Asp) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022141] Chr9:34648143 [GRCh38]
Chr9:34648140 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.539G>T (p.Cys180Phe) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022142] Chr9:34648146 [GRCh38]
Chr9:34648143 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.541T>G (p.Ser181Ala) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022143] Chr9:34648148 [GRCh38]
Chr9:34648145 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.542C>T (p.Ser181Phe) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022144] Chr9:34648149 [GRCh38]
Chr9:34648146 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.550C>G (p.His184Asp) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022145] Chr9:34648157 [GRCh38]
Chr9:34648154 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.552C>A (p.His184Gln) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022146]|not provided [RCV000493954] Chr9:34648159 [GRCh38]
Chr9:34648156 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|uncertain significance
NM_000155.4(GALT):c.553C>T (p.Pro185Ser) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022147] Chr9:34648160 [GRCh38]
Chr9:34648157 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.554C>A (p.Pro185His) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022148] Chr9:34648161 [GRCh38]
Chr9:34648158 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.554C>T (p.Pro185Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022149] Chr9:34648161 [GRCh38]
Chr9:34648158 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.556C>T (p.His186Tyr) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022150]|not provided [RCV000224017] Chr9:34648163 [GRCh38]
Chr9:34648160 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|uncertain significance
NM_000155.4(GALT):c.564+1G>A single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022151]|Galactosemia [RCV001271240]|not provided [RCV000729821] Chr9:34648172 [GRCh38]
Chr9:34648169 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.564+15G>A single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022152]|not provided [RCV000588771]|not specified [RCV000270166] Chr9:34648186 [GRCh38]
Chr9:34648183 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_000155.4(GALT):c.564+32T>A single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022153] Chr9:34648203 [GRCh38]
Chr9:34648200 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.565-2A>G single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022154] Chr9:34648332 [GRCh38]
Chr9:34648329 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.574A>G (p.Ser192Gly) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022155] Chr9:34648343 [GRCh38]
Chr9:34648340 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.575G>A (p.Ser192Asn) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022156] Chr9:34648344 [GRCh38]
Chr9:34648341 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.583C>T (p.Leu195=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022157] Chr9:34648352 [GRCh38]
Chr9:34648349 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022158]|not provided [RCV000224416] Chr9:34648353 [GRCh38]
Chr9:34648350 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.594T>G (p.Ile198Met) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022159] Chr9:34648363 [GRCh38]
Chr9:34648360 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.595G>A (p.Ala199Thr) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022160] Chr9:34648364 [GRCh38]
Chr9:34648361 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.598del (p.Gln200fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022161]|Galactosemia [RCV001271241]|not provided [RCV000723396] Chr9:34648365 [GRCh38]
Chr9:34648362 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022162]|Galactosemia [RCV001271242]|not provided [RCV000723434]|not specified [RCV000506881] Chr9:34648370 [GRCh38]
Chr9:34648367 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.602G>A (p.Arg201His) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022163]|not provided [RCV000723397] Chr9:34648371 [GRCh38]
Chr9:34648368 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.610C>T (p.Arg204Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022164]|not provided [RCV000723395] Chr9:34648379 [GRCh38]
Chr9:34648376 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000155.4(GALT):c.611G>C (p.Arg204Pro) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022165] Chr9:34648380 [GRCh38]
Chr9:34648377 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.619C>T (p.Gln207Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022166]|not provided [RCV000723401] Chr9:34648388 [GRCh38]
Chr9:34648385 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022167]|not provided [RCV000185918] Chr9:34648395 [GRCh38]
Chr9:34648392 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.626A>C (p.Tyr209Ser) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022168] Chr9:34648395 [GRCh38]
Chr9:34648392 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.630G>A (p.Lys210=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022169] Chr9:34648399 [GRCh38]
Chr9:34648396 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.634C>T (p.Gln212Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022170]|not provided [RCV000723558] Chr9:34648403 [GRCh38]
Chr9:34648400 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000155.4(GALT):c.635A>C (p.Gln212Pro) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022171] Chr9:34648404 [GRCh38]
Chr9:34648401 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.650T>C (p.Leu217Pro) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022172] Chr9:34648419 [GRCh38]
Chr9:34648416 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022173] Chr9:34648421 [GRCh38]
Chr9:34648418 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.652C>G (p.Leu218Val) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022175]|not provided [RCV000337575] Chr9:34648421 [GRCh38]
Chr9:34648418 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.658G>A (p.Glu220Lys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022176] Chr9:34648427 [GRCh38]
Chr9:34648424 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.658dup (p.Glu220fs) duplication Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022177] Chr9:34648425..34648426 [GRCh38]
Chr9:34648422..34648423 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.667C>A (p.Arg223Ser) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022178] Chr9:34648436 [GRCh38]
Chr9:34648433 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.676C>G (p.Leu226Val) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022179] Chr9:34648445 [GRCh38]
Chr9:34648442 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.677T>C (p.Leu226Pro) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022180] Chr9:34648446 [GRCh38]
Chr9:34648443 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.680T>C (p.Leu227Pro) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022181] Chr9:34648449 [GRCh38]
Chr9:34648446 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.687G>T (p.Lys229Asn) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022182] Chr9:34648456 [GRCh38]
Chr9:34648453 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.687+2T>C single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022183] Chr9:34648458 [GRCh38]
Chr9:34648455 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022184]|not provided [RCV000185919] Chr9:34648765 [GRCh38]
Chr9:34648762 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.692G>A (p.Arg231His) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022185] Chr9:34648766 [GRCh38]
Chr9:34648763 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.697G>C (p.Val233Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022186] Chr9:34648771 [GRCh38]
Chr9:34648768 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.699C>A (p.Val233=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022187] Chr9:34648773 [GRCh38]
Chr9:34648770 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.719_728del (p.Leu240fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022188] Chr9:34648787..34648796 [GRCh38]
Chr9:34648784..34648793 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.745T>C (p.Trp249Arg) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022189] Chr9:34648819 [GRCh38]
Chr9:34648816 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.747G>A (p.Trp249Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022190]|Galactosemia [RCV001271244] Chr9:34648821 [GRCh38]
Chr9:34648818 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.748C>A (p.Pro250Thr) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022191]|not specified [RCV000506385] Chr9:34648822 [GRCh38]
Chr9:34648819 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.752A>G (p.Tyr251Cys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022192] Chr9:34648826 [GRCh38]
Chr9:34648823 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.752A>C (p.Tyr251Ser) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022193]|not provided [RCV000347842] Chr9:34648826 [GRCh38]
Chr9:34648823 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.753C>T (p.Tyr251=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022194]|not specified [RCV000241856] Chr9:34648827 [GRCh38]
Chr9:34648824 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_000155.4(GALT):c.756G>T (p.Gln252His) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022195] Chr9:34648830 [GRCh38]
Chr9:34648827 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.768_770del (p.Pro257del) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022198] Chr9:34648842..34648844 [GRCh38]
Chr9:34648839..34648841 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.770C>T (p.Pro257Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022199] Chr9:34648844 [GRCh38]
Chr9:34648841 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.777G>A (p.Arg259=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022202] Chr9:34648851 [GRCh38]
Chr9:34648848 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.3(GALT):c.779_790delATGTGCGGCGGC (p.His260_Arg263del) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022203]|not specified [RCV000780282] Chr9:34648849..34648860 [GRCh38]
Chr9:34648846..34648857 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.785G>C (p.Arg262Pro) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022204] Chr9:34648859 [GRCh38]
Chr9:34648856 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.3(GALT):c.790_792delCTAinsTAG (p.Leu264Ter) indel Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022205]|not provided [RCV000078236] Chr9:34648864..34648866 [GRCh38]
Chr9:34648861..34648863 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.793C>G (p.Pro265Ala) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022206]|Galactosemia [RCV001271245]|not provided [RCV000595522]|not specified [RCV001255517] Chr9:34648867 [GRCh38]
Chr9:34648864 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.803C>A (p.Thr268Asn) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022207] Chr9:34648877 [GRCh38]
Chr9:34648874 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022208]|not provided [RCV000724474]|not specified [RCV000180101] Chr9:34648886 [GRCh38]
Chr9:34648883 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.814C>G (p.Arg272Gly) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022209] Chr9:34648888 [GRCh38]
Chr9:34648885 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.815G>A (p.Arg272His) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022210]|not provided [RCV000302160]|not specified [RCV000780280] Chr9:34648889 [GRCh38]
Chr9:34648886 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|uncertain significance
NM_000155.4(GALT):c.820+13A>G single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022211]|not provided [RCV000723491] Chr9:34648907 [GRCh38]
Chr9:34648904 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.820+23T>G single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022212] Chr9:34648917 [GRCh38]
Chr9:34648914 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.821-46G>T single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022213] Chr9:34648952 [GRCh38]
Chr9:34648949 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_000155.4(GALT):c.821-2A>G single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022214] Chr9:34648996 [GRCh38]
Chr9:34648993 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.824del (p.Leu275fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022215] Chr9:34649001 [GRCh38]
Chr9:34648998 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.833T>A (p.Ile278Asn) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022216] Chr9:34649010 [GRCh38]
Chr9:34649007 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.836T>G (p.Met279Arg) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022217] Chr9:34649013 [GRCh38]
Chr9:34649010 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.844C>G (p.Leu282Val) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022218]|not provided [RCV000723391] Chr9:34649021 [GRCh38]
Chr9:34649018 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022219] Chr9:34649034 [GRCh38]
Chr9:34649031 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.854A>G (p.Lys285Arg) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022220] Chr9:34649031 [GRCh38]
Chr9:34649028 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.865C>T (p.Leu289Phe) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022221] Chr9:34649042 [GRCh38]
Chr9:34649039 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.866T>G (p.Leu289Arg) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022222] Chr9:34649043 [GRCh38]
Chr9:34649040 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.871G>A (p.Glu291Lys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022223] Chr9:34649048 [GRCh38]
Chr9:34649045 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.872A>T (p.Glu291Val) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022224] Chr9:34649049 [GRCh38]
Chr9:34649046 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.881T>A (p.Phe294Tyr) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022226] Chr9:34649058 [GRCh38]
Chr9:34649055 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.882del (p.Tyr296fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022227] Chr9:34649057 [GRCh38]
Chr9:34649054 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022228] Chr9:34649060 [GRCh38]
Chr9:34649057 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.904+5G>A single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022230] Chr9:34649086 [GRCh38]
Chr9:34649083 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.920C>A (p.Ser307Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022231] Chr9:34649425 [GRCh38]
Chr9:34649422 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.922G>A (p.Glu308Lys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022232] Chr9:34649427 [GRCh38]
Chr9:34649424 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022235] Chr9:34649452 [GRCh38]
Chr9:34649449 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000155.4(GALT):c.948G>A (p.Trp316Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022236] Chr9:34649453 [GRCh38]
Chr9:34649450 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.949del (p.Gln317fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022237] Chr9:34649454 [GRCh38]
Chr9:34649451 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.950A>G (p.Gln317Arg) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022238] Chr9:34649455 [GRCh38]
Chr9:34649452 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.951G>T (p.Gln317His) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022239] Chr9:34649456 [GRCh38]
Chr9:34649453 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.952del (p.Leu318fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022240] Chr9:34649457 [GRCh38]
Chr9:34649454 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.954G>A (p.Leu318=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022241] Chr9:34649459 [GRCh38]
Chr9:34649456 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.957C>T (p.His319=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022242] Chr9:34649462 [GRCh38]
Chr9:34649459 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022243]|not provided [RCV000319347] Chr9:34649463 [GRCh38]
Chr9:34649460 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.961C>T (p.His321Tyr) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022244]|not provided [RCV000587990] Chr9:34649466 [GRCh38]
Chr9:34649463 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.967T>G (p.Tyr323Asp) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022245] Chr9:34649472 [GRCh38]
Chr9:34649469 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.967T>C (p.Tyr323His) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022246] Chr9:34649472 [GRCh38]
Chr9:34649469 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.968A>G (p.Tyr323Cys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022247] Chr9:34649473 [GRCh38]
Chr9:34649470 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.970C>T (p.Pro324Ser) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022248] Chr9:34649475 [GRCh38]
Chr9:34649472 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.972T>C (p.Pro324=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022249] Chr9:34649477 [GRCh38]
Chr9:34649474 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022250]|not provided [RCV001091819] Chr9:34649479 [GRCh38]
Chr9:34649476 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.976del (p.Leu326fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022251] Chr9:34649481 [GRCh38]
Chr9:34649478 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.979del (p.Leu327fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022252] Chr9:34649483 [GRCh38]
Chr9:34649480 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.980T>C (p.Leu327Pro) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022253] Chr9:34649485 [GRCh38]
Chr9:34649482 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.983G>A (p.Arg328His) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022254]|Galactosemia [RCV001271248] Chr9:34649488 [GRCh38]
Chr9:34649485 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.986C>T (p.Ser329Phe) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022255] Chr9:34649491 [GRCh38]
Chr9:34649488 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.989C>T (p.Ala330Val) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022256] Chr9:34649494 [GRCh38]
Chr9:34649491 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022258] Chr9:34649503 [GRCh38]
Chr9:34649500 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.998G>T (p.Arg333Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022259] Chr9:34649503 [GRCh38]
Chr9:34649500 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.1001A>G (p.Lys334Arg) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022260] Chr9:34649506 [GRCh38]
Chr9:34649503 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022261] Chr9:34649511 [GRCh38]
Chr9:34649508 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.1014C>G (p.Gly338=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022262]|not provided [RCV000790690] Chr9:34649519 [GRCh38]
Chr9:34649516 [GRCh37]
Chr9:9p13.3
likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022263] Chr9:34649523 [GRCh38]
Chr9:34649520 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.1018G>T (p.Glu340Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022264] Chr9:34649523 [GRCh38]
Chr9:34649520 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.1024C>A (p.Leu342Ile) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022265] Chr9:34649529 [GRCh38]
Chr9:34649526 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022266]|not provided [RCV000224058] Chr9:34649535 [GRCh38]
Chr9:34649532 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000155.4(GALT):c.1034C>A (p.Ala345Asp) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022267] Chr9:34649539 [GRCh38]
Chr9:34649536 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.1047del (p.Thr350fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022268] Chr9:34649552 [GRCh38]
Chr9:34649549 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.1048A>G (p.Thr350Ala) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022269] Chr9:34649553 [GRCh38]
Chr9:34649550 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.3(GALT):c.1051delC (p.Pro351Leufs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022270] Chr9:34649556 [GRCh38]
Chr9:34649553 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022271] Chr9:34649562 [GRCh38]
Chr9:34649559 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.1059+24G>A single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022272] Chr9:34649588 [GRCh38]
Chr9:34649585 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
NM_000155.4(GALT):c.1059+36T>A single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022273] Chr9:34649600 [GRCh38]
Chr9:34649597 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.1059+56C>T single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022274] Chr9:34649620 [GRCh38]
Chr9:34649617 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.1060-1G>A single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022275]|not provided [RCV000725094] Chr9:34650368 [GRCh38]
Chr9:34650365 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.1072del (p.Arg357_Leu358insTer) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022276] Chr9:34650381 [GRCh38]
Chr9:34650378 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.1098C>A (p.Tyr366Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022278] Chr9:34650407 [GRCh38]
Chr9:34650404 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.1108C>T (p.Gln370Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022279] Chr9:34650417 [GRCh38]
Chr9:34650414 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022280]|not specified [RCV000507865] Chr9:34650441 [GRCh38]
Chr9:34650438 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022281] Chr9:34650447 [GRCh38]
Chr9:34650444 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.1140A>C (p.Ter380Cys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022282] Chr9:34650449 [GRCh38]
Chr9:34650446 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.*203C>T single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022283] Chr9:34650652 [GRCh38]
Chr9:34650649 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.425T>A (p.Met142Lys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000003793]|not provided [RCV000185916] Chr9:34647879 [GRCh38]
Chr9:34647876 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000003794]|not provided [RCV000723400] Chr9:34649502 [GRCh38]
Chr9:34649499 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000155.4(GALT):c.130G>A (p.Val44Met) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000003795] Chr9:34647136 [GRCh38]
Chr9:34647133 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.184C>A (p.Leu62Met) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022064]|GALT POLYMORPHISM [RCV000003796] Chr9:34647190 [GRCh38]
Chr9:34647187 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022233]|GALT POLYMORPHISM (DUARTE, D2) [RCV000003797]|Galactosemia [RCV000309989]|not provided [RCV000078243]|not specified [RCV000243200] Chr9:34649445 [GRCh38]
Chr9:34649442 [GRCh37]
Chr9:9p13.3
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|other|not provided
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000003798]|Galactosemia [RCV000825563]|not provided [RCV000185917] Chr9:34648170 [GRCh38]
Chr9:34648167 [GRCh37]
Chr9:9p13.3
pathogenic|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.221T>C (p.Leu74Pro) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000003799]|not provided [RCV000723459] Chr9:34647227 [GRCh38]
Chr9:34647224 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000003800]|not provided [RCV000723392] Chr9:34648119 [GRCh38]
Chr9:34648116 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.957C>A (p.His319Gln) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000003801]|not provided [RCV000727567] Chr9:34649462 [GRCh38]
Chr9:34649459 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000003802]|not provided [RCV000185915] Chr9:34647858 [GRCh38]
Chr9:34647855 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000003803] Chr9:34648154 [GRCh38]
Chr9:34648151 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000003805]|not provided [RCV000224446] Chr9:34649032 [GRCh38]
Chr9:34649029 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000003806]|Galactosemia [RCV001271243]|not provided [RCV000727661] Chr9:34648376 [GRCh38]
Chr9:34648373 [GRCh37]
Chr9:9p13.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.997C>G (p.Arg333Gly) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000003807] Chr9:34649502 [GRCh38]
Chr9:34649499 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.580T>C (p.Phe194Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000003808] Chr9:34648349 [GRCh38]
Chr9:34648346 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.2(GALT):c.-119_-116delGTCA deletion Classical galactosemia, homozygous Duarte-type [RCV000003809]|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022037]|not provided [RCV000185922] Chr9:34646576..34646579 [GRCh38]
Chr9:34646583..34646586 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|other
NM_000155.4(GALT):c.203A>C (p.His68Pro) single nucleotide variant not provided [RCV000723445]|not specified [RCV000029806] Chr9:34647209 [GRCh38]
Chr9:34647206 [GRCh37]
Chr9:9p13.3
likely pathogenic|uncertain significance
NM_000155.4(GALT):c.385A>T (p.Met129Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000029808]|not specified [RCV000507148] Chr9:34647839 [GRCh38]
Chr9:34647836 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.498T>C (p.Pro166=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000029810]|not provided [RCV000762558]|not specified [RCV000506326] Chr9:34647952 [GRCh38]
Chr9:34647949 [GRCh37]
Chr9:9p13.3
likely benign
NM_000155.4(GALT):c.508-17G>A single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000029811]|Galactosemia [RCV001276269]|not specified [RCV000277594] Chr9:34648098 [GRCh38]
Chr9:34648095 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.687+1G>T single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000029818] Chr9:34648457 [GRCh38]
Chr9:34648454 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.876G>A (p.Thr292=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000029821]|not specified [RCV000078240] Chr9:34649053 [GRCh38]
Chr9:34649050 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_000155.4(GALT):c.945T>C (p.His315=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000029823]|not specified [RCV000078244] Chr9:34649450 [GRCh38]
Chr9:34649447 [GRCh37]
Chr9:9p13.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_000155.4(GALT):c.82G>A (p.Asp28Asn) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000031852] Chr9:34646786 [GRCh38]
Chr9:34646783 [GRCh37]
Chr9:9p13.3
conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000155.4(GALT):c.218_219CT[1] (p.Leu74fs) microsatellite Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000032010] Chr9:34647224..34647225 [GRCh38]
Chr9:34647221..34647222 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.398_399dup (p.Trp134fs) duplication Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000032011] Chr9:34647849..34647850 [GRCh38]
Chr9:34647846..34647847 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.879C>T (p.Ser293=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000032012] Chr9:34649056 [GRCh38]
Chr9:34649053 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_000155.4(GALT):c.904+1G>T single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000032013]|not provided [RCV000723500] Chr9:34649082 [GRCh38]
Chr9:34649079 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.1087G>A (p.Glu363Lys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000032014] Chr9:34650396 [GRCh38]
Chr9:34650393 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.959C>T (p.Ala320Val) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000032024] Chr9:34649464 [GRCh38]
Chr9:34649461 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.652C>T (p.Leu218=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000032587]|not provided [RCV000078233] Chr9:34648421 [GRCh38]
Chr9:34648418 [GRCh37]
Chr9:9p13.3
benign|likely benign|other|not provided
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
NM_000155.4(GALT):c.82+2del deletion not provided [RCV000173075] Chr9:34646788 [GRCh38]
Chr9:34646785 [GRCh37]
Chr9:9p13.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
NM_000155.4(GALT):c.1052del (p.Pro351fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000173648]|not provided [RCV000723535] Chr9:34649554 [GRCh38]
Chr9:34649551 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.905-1G>A single nucleotide variant not provided [RCV000173649] Chr9:34649409 [GRCh38]
Chr9:34649406 [GRCh37]
Chr9:9p13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p13.3(chr9:34340255-35163258)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|See cases [RCV000053751] Chr9:34340255..35163258 [GRCh38]
Chr9:34340253..35163255 [GRCh37]
Chr9:34330253..35153255 [NCBI36]
Chr9:9p13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_000155.4(GALT):c.334dup (p.Ser112fs) duplication Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000022087] Chr9:34647661..34647662 [GRCh38]
Chr9:34647658..34647659 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.289_291del (p.Asn97del) deletion not provided [RCV000078216] Chr9:34647526..34647528 [GRCh38]
Chr9:34647523..34647525 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.291C>T (p.Asn97=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001079085]|not provided [RCV000078218] Chr9:34647530 [GRCh38]
Chr9:34647527 [GRCh37]
Chr9:9p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.508-1G>C single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000763196]|not provided [RCV000078224] Chr9:34648114 [GRCh38]
Chr9:34648111 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.562C>A (p.Gln188Lys) single nucleotide variant not provided [RCV000078226] Chr9:34648169 [GRCh38]
Chr9:34648166 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.3(GALT):c.565_578delGTATGGGCCAGCAG (p.Val189Phefs) deletion not provided [RCV000078228] Chr9:34648331..34648344 [GRCh38]
Chr9:34648328..34648341 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.568T>C (p.Trp190Arg) single nucleotide variant not provided [RCV000078229] Chr9:34648337 [GRCh38]
Chr9:34648334 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.688-2A>C single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000781405]|not provided [RCV000078234] Chr9:34648760 [GRCh38]
Chr9:34648757 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000078235]|not provided [RCV000493672] Chr9:34648846 [GRCh38]
Chr9:34648843 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.820+4A>C single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000818066]|Galactosemia [RCV001271246]|not provided [RCV000078237] Chr9:34648898 [GRCh38]
Chr9:34648895 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.905-2A>G single nucleotide variant not provided [RCV000078242] Chr9:34649408 [GRCh38]
Chr9:34649405 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.985T>C (p.Ser329Pro) single nucleotide variant not provided [RCV000078245] Chr9:34649490 [GRCh38]
Chr9:34649487 [GRCh37]
Chr9:9p13.3
likely pathogenic
NC_000009.11:g.(34644527_34645701)_(34650746_34653247)del deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000087307] Chr9:34645704..34650749 [GRCh38]
Chr9:34645701..34650746 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.1139G>C (p.Ter380Ser) single nucleotide variant not provided [RCV000173981] Chr9:34650448 [GRCh38]
Chr9:34650445 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.572C>T (p.Ala191Val) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000179721]|not provided [RCV000723393] Chr9:34648341 [GRCh38]
Chr9:34648338 [GRCh37]
Chr9:9p13.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.502G>A (p.Val168Met) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000409875] Chr9:34647956 [GRCh38]
Chr9:34647953 [GRCh37]
Chr9:9p13.3
likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1
pathogenic
NM_000155.4(GALT):c.445dup (p.Ala149fs) duplication not provided [RCV000153305] Chr9:34647896..34647897 [GRCh38]
Chr9:34647893..34647894 [GRCh37]
Chr9:9p13.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 copy number loss See cases [RCV000134762] Chr9:33572681..36782015 [GRCh38]
Chr9:33572679..36782012 [GRCh37]
Chr9:33562679..36772012 [NCBI36]
Chr9:9p13.3-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11
pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1
likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_000155.4(GALT):c.83-3C>G single nucleotide variant not provided [RCV000175532] Chr9:34647086 [GRCh38]
Chr9:34647083 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_000155.4(GALT):c.508-12C>G single nucleotide variant not provided [RCV000153306] Chr9:34648103 [GRCh38]
Chr9:34648100 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.864C>A (p.Asn288Lys) single nucleotide variant not provided [RCV000153307] Chr9:34649041 [GRCh38]
Chr9:34649038 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000169625]|not provided [RCV000723394] Chr9:34648849 [GRCh38]
Chr9:34648846 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.377+17C>T single nucleotide variant not provided [RCV000178048] Chr9:34647722 [GRCh38]
Chr9:34647719 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.406G>T (p.Asp136Tyr) single nucleotide variant not provided [RCV000178720] Chr9:34647860 [GRCh38]
Chr9:34647857 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.539G>A (p.Cys180Tyr) single nucleotide variant not provided [RCV000179262] Chr9:34648146 [GRCh38]
Chr9:34648143 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.611G>A (p.Arg204Gln) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000779578]|not provided [RCV000179722] Chr9:34648380 [GRCh38]
Chr9:34648377 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.864C>T (p.Asn288=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000545786]|Galactosemia [RCV001271247]|not specified [RCV000508394] Chr9:34649041 [GRCh38]
Chr9:34649038 [GRCh37]
Chr9:9p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.3(GALT):c.823C>G (p.Leu275Val) single nucleotide variant not specified [RCV000185920] Chr9:34649000 [GRCh38]
Chr9:34648997 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.200G>A (p.Arg67His) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000634556] Chr9:34647206 [GRCh38]
Chr9:34647203 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.367C>T (p.Arg123Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000686241]|Galactosemia [RCV001276263]|not provided [RCV000727565] Chr9:34647695 [GRCh38]
Chr9:34647692 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.3(GALT):c.908C>A (p.Ala303Asp) single nucleotide variant not provided [RCV000185921] Chr9:34649413 [GRCh38]
Chr9:34649410 [GRCh37]
Chr9:9p13.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter) inversion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000555777]|not provided [RCV000723483] Chr9:34648864..34648866 [GRCh38]
Chr9:34648861..34648863 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_000155.4(GALT):c.189dup (p.Thr64fs) duplication Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000669329] Chr9:34647194..34647195 [GRCh38]
Chr9:34647191..34647192 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.513dup (p.Glu172Ter) duplication Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000669232] Chr9:34648117..34648118 [GRCh38]
Chr9:34648114..34648115 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.83-46G>C single nucleotide variant not specified [RCV000246639] Chr9:34647043 [GRCh38]
Chr9:34647040 [GRCh37]
Chr9:9p13.3
likely benign
NM_000155.4(GALT):c.328+33G>C single nucleotide variant not provided [RCV000269381] Chr9:34647600 [GRCh38]
Chr9:34647597 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.1081C>T (p.Leu361Phe) single nucleotide variant not provided [RCV000304304] Chr9:34650390 [GRCh38]
Chr9:34650387 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.817G>C (p.Asp273His) single nucleotide variant not provided [RCV000374333] Chr9:34648891 [GRCh38]
Chr9:34648888 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.605A>C (p.Glu202Ala) single nucleotide variant not provided [RCV000273810] Chr9:34648374 [GRCh38]
Chr9:34648371 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.142C>T (p.Arg48Cys) single nucleotide variant not provided [RCV000273060] Chr9:34647148 [GRCh38]
Chr9:34647145 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.843G>A (p.Lys281=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000304726] Chr9:34649020 [GRCh38]
Chr9:34649017 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.1006A>G (p.Met336Val) single nucleotide variant not provided [RCV000277828] Chr9:34649511 [GRCh38]
Chr9:34649508 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.414G>T (p.Thr138=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001085244]|not provided [RCV000586709]|not specified [RCV000312319] Chr9:34647868 [GRCh38]
Chr9:34647865 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_000155.4(GALT):c.405G>A (p.Ser135=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000634558]|not provided [RCV000347809] Chr9:34647859 [GRCh38]
Chr9:34647856 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.902A>G (p.His301Arg) single nucleotide variant not provided [RCV000590154] Chr9:34649079 [GRCh38]
Chr9:34649076 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.*147A>G single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000324986] Chr9:34650596 [GRCh38]
Chr9:34650593 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
NM_000155.4(GALT):c.74G>C (p.Arg25Pro) single nucleotide variant not provided [RCV000316707] Chr9:34646778 [GRCh38]
Chr9:34646775 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.683G>C (p.Arg228Thr) single nucleotide variant not provided [RCV000386913] Chr9:34648452 [GRCh38]
Chr9:34648449 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.820+26G>A single nucleotide variant not provided [RCV000283406] Chr9:34648920 [GRCh38]
Chr9:34648917 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.1059+11A>G single nucleotide variant not provided [RCV000390332] Chr9:34649575 [GRCh38]
Chr9:34649572 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.904+2T>G single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000264185] Chr9:34649083 [GRCh38]
Chr9:34649080 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.687+9G>C single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000871944]|Galactosemia [RCV001276331]|not specified [RCV000588651] Chr9:34648465 [GRCh38]
Chr9:34648462 [GRCh37]
Chr9:9p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.139C>G (p.His47Asp) single nucleotide variant not provided [RCV000322916] Chr9:34647145 [GRCh38]
Chr9:34647142 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.118G>A (p.Glu40Lys) single nucleotide variant not provided [RCV000591981] Chr9:34647124 [GRCh38]
Chr9:34647121 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.277T>A (p.Phe93Ile) single nucleotide variant not provided [RCV000393851] Chr9:34647516 [GRCh38]
Chr9:34647513 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.587C>T (p.Pro196Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001243258]|not provided [RCV000289938] Chr9:34648356 [GRCh38]
Chr9:34648353 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.387G>A (p.Met129Ile) single nucleotide variant not provided [RCV000325329] Chr9:34647841 [GRCh38]
Chr9:34647838 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.885_886insATGGCGTCCTTTCCC (p.Tyr296_Ser297insMetAlaSerPhePro) insertion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001320064]|not provided [RCV000259785] Chr9:34649051..34649052 [GRCh38]
Chr9:34649048..34649049 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.564+7G>A single nucleotide variant not provided [RCV000725562]|not specified [RCV000397513] Chr9:34648178 [GRCh38]
Chr9:34648175 [GRCh37]
Chr9:9p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.688-4C>T single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000872163]|Galactosemia [RCV001276332] Chr9:34648758 [GRCh38]
Chr9:34648755 [GRCh37]
Chr9:9p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.510C>A (p.Ile170=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000872897]|Galactosemia [RCV001276330]|not specified [RCV000400615] Chr9:34648117 [GRCh38]
Chr9:34648114 [GRCh37]
Chr9:9p13.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.329-24G>A single nucleotide variant not specified [RCV000261839] Chr9:34647633 [GRCh38]
Chr9:34647630 [GRCh37]
Chr9:9p13.3
likely benign
NM_000155.4(GALT):c.507+5G>A single nucleotide variant not provided [RCV000327271] Chr9:34647966 [GRCh38]
Chr9:34647963 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.329-19T>C single nucleotide variant not provided [RCV000264514] Chr9:34647638 [GRCh38]
Chr9:34647635 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.341A>C (p.His114Pro) single nucleotide variant not provided [RCV000299685] Chr9:34647669 [GRCh38]
Chr9:34647666 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.232G>A (p.Ala78Thr) single nucleotide variant not provided [RCV000333580] Chr9:34647238 [GRCh38]
Chr9:34647235 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.875C>T (p.Thr292Met) single nucleotide variant not provided [RCV000367550] Chr9:34649052 [GRCh38]
Chr9:34649049 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.893T>C (p.Met298Thr) single nucleotide variant not provided [RCV000433820] Chr9:34649070 [GRCh38]
Chr9:34649067 [GRCh37]
Chr9:9p13.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.449_451TTG[1] (p.Val151del) microsatellite not provided [RCV000267894] Chr9:34647901..34647903 [GRCh38]
Chr9:34647898..34647900 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.211C>G (p.Leu71Val) single nucleotide variant not provided [RCV000586020] Chr9:34647217 [GRCh38]
Chr9:34647214 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001258332.1(GALT):c.-240G>A single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000292811] Chr9:34646667 [GRCh38]
Chr9:34646664 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser) indel not provided [RCV000404302] Chr9:34648826..34648827 [GRCh38]
Chr9:34648823..34648824 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000319697]|not provided [RCV000723422] Chr9:34648850 [GRCh38]
Chr9:34648847 [GRCh37]
Chr9:9p13.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.268G>C (p.Asp90His) single nucleotide variant not provided [RCV000586397] Chr9:34647507 [GRCh38]
Chr9:34647504 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.513del (p.Phe171fs) deletion not provided [RCV000338209] Chr9:34648118 [GRCh38]
Chr9:34648115 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.450T>A (p.Val150=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000668399]|not provided [RCV000977076] Chr9:34647904 [GRCh38]
Chr9:34647901 [GRCh37]
Chr9:9p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.377+7A>C single nucleotide variant not provided [RCV000339315] Chr9:34647712 [GRCh38]
Chr9:34647709 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.71_72insA (p.Phe24fs) insertion not provided [RCV000299758] Chr9:34646775..34646776 [GRCh38]
Chr9:34646772..34646773 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.558C>A (p.His186Gln) single nucleotide variant not provided [RCV000300765] Chr9:34648165 [GRCh38]
Chr9:34648162 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.678A>G (p.Leu226=) single nucleotide variant not specified [RCV000587237] Chr9:34648447 [GRCh38]
Chr9:34648444 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
NM_000155.4(GALT):c.275C>A (p.Thr92Asn) single nucleotide variant not provided [RCV000587415] Chr9:34647514 [GRCh38]
Chr9:34647511 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.833T>C (p.Ile278Thr) single nucleotide variant not provided [RCV000592390] Chr9:34649010 [GRCh38]
Chr9:34649007 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.12:g.(?_34645559)_(34651238_?)del deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000549740] Chr9:34645559..34651238 [GRCh38]
Chr9:34645556..34651235 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.715T>C (p.Trp239Arg) single nucleotide variant Galactosemia [RCV001276333]|not provided [RCV000587613] Chr9:34648789 [GRCh38]
Chr9:34648786 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.377+7A>G single nucleotide variant Galactosemia [RCV001276264]|not provided [RCV000588277] Chr9:34647712 [GRCh38]
Chr9:34647709 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.507+17C>T single nucleotide variant not provided [RCV000588921] Chr9:34647978 [GRCh38]
Chr9:34647975 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.172G>A (p.Glu58Lys) single nucleotide variant Galactosemia [RCV001276261]|not provided [RCV000589593] Chr9:34647178 [GRCh38]
Chr9:34647175 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.328+7T>C single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001082085]|Galactosemia [RCV001276328]|not provided [RCV000589766] Chr9:34647574 [GRCh38]
Chr9:34647571 [GRCh37]
Chr9:9p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.851C>A (p.Thr284Asn) single nucleotide variant Galactosemia [RCV001276334]|not provided [RCV000589508] Chr9:34649028 [GRCh38]
Chr9:34649025 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.83-2A>G single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000409485] Chr9:34647087 [GRCh38]
Chr9:34647084 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.912dup (p.Thr305fs) duplication Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000409549] Chr9:34649414..34649415 [GRCh38]
Chr9:34649411..34649412 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.1049C>T (p.Thr350Ile) single nucleotide variant not provided [RCV000594103] Chr9:34649554 [GRCh38]
Chr9:34649551 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.289A>G (p.Asn97Asp) single nucleotide variant not provided [RCV000728335] Chr9:34647528 [GRCh38]
Chr9:34647525 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.627T>A (p.Tyr209Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000409965] Chr9:34648396 [GRCh38]
Chr9:34648393 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.670del (p.Gln224fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000410093] Chr9:34648438 [GRCh38]
Chr9:34648435 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.1048del (p.Thr350fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000409590] Chr9:34649553 [GRCh38]
Chr9:34649550 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.562C>T (p.Gln188Ter) single nucleotide variant not provided [RCV000730245] Chr9:34648169 [GRCh38]
Chr9:34648166 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.761dup (p.Leu255fs) duplication Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000410683] Chr9:34648834..34648835 [GRCh38]
Chr9:34648831..34648832 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.290A>T (p.Asn97Ile) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001000878] Chr9:34647529 [GRCh38]
Chr9:34647526 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.520A>C (p.Lys174Gln) single nucleotide variant not provided [RCV000729558] Chr9:34648127 [GRCh38]
Chr9:34648124 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NM_000155.4(GALT):c.299C>G (p.Pro100Arg) single nucleotide variant not provided [RCV000422602] Chr9:34647538 [GRCh38]
Chr9:34647535 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000589987]|not provided [RCV000431337] Chr9:34649487 [GRCh38]
Chr9:34649484 [GRCh37]
Chr9:9p13.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_000155.4(GALT):c.329G>A (p.Gly110Glu) single nucleotide variant not provided [RCV000439035] Chr9:34647657 [GRCh38]
Chr9:34647654 [GRCh37]
Chr9:9p13.3
likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_000155.4(GALT):c.899G>A (p.Trp300Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001223654]|not provided [RCV000482754] Chr9:34649076 [GRCh38]
Chr9:34649073 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.*8G>A single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001168795]|Galactosemia [RCV001276338]|not specified [RCV000506085] Chr9:34650457 [GRCh38]
Chr9:34650454 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.640G>A (p.Gly214Arg) single nucleotide variant not specified [RCV000506939] Chr9:34648409 [GRCh38]
Chr9:34648406 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.904+3G>T single nucleotide variant not specified [RCV000507568] Chr9:34649084 [GRCh38]
Chr9:34649081 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.157T>A (p.Trp53Arg) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000634555]|not provided [RCV000492861] Chr9:34647163 [GRCh38]
Chr9:34647160 [GRCh37]
Chr9:9p13.3
likely pathogenic|uncertain significance
NM_000155.4(GALT):c.1066_1067GA[2] (p.Arg357fs) microsatellite not specified [RCV000507710] Chr9:34650374..34650375 [GRCh38]
Chr9:34650371..34650372 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.556C>A (p.His186Asn) single nucleotide variant not specified [RCV000508125] Chr9:34648163 [GRCh38]
Chr9:34648160 [GRCh37]
Chr9:9p13.3
likely pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3
pathogenic
NC_000009.11:g.(?_34458984)_(35809462_?)dup duplication Hyperphosphatasia with mental retardation syndrome 2 [RCV000540114] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.888C>G (p.Tyr296Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000587954] Chr9:34649065 [GRCh38]
Chr9:34649062 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.785_787GGC[3] (p.Arg263dup) microsatellite not provided [RCV000586063] Chr9:34648856..34648857 [GRCh38]
Chr9:34648853..34648854 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
NM_000155.4(GALT):c.307C>T (p.Gln103Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000595136]|not provided [RCV000726851] Chr9:34647546 [GRCh38]
Chr9:34647543 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.885C>G (p.Pro295=) single nucleotide variant not specified [RCV000585935] Chr9:34649062 [GRCh38]
Chr9:34649059 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_000155.4(GALT):c.667C>T (p.Arg223Cys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000634557]|Premature ovarian failure [RCV001270213]|not provided [RCV000733886] Chr9:34648436 [GRCh38]
Chr9:34648433 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_000155.4(GALT):c.887A>G (p.Tyr296Cys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000634559] Chr9:34649064 [GRCh38]
Chr9:34649061 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.12:g.(?_34646586)_(34651238_?)del deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000634560] Chr9:34646586..34651238 [GRCh38]
Chr9:34646583..34651235 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.590A>G (p.Asp197Gly) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000671944] Chr9:34648359 [GRCh38]
Chr9:34648356 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.157T>C (p.Trp53Arg) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000672826] Chr9:34647163 [GRCh38]
Chr9:34647160 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.132del (p.Ser45fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000671377] Chr9:34647138 [GRCh38]
Chr9:34647135 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_001258332.1(GALT):c.-298T>G single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000671764] Chr9:34646609 [GRCh38]
Chr9:34646606 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.788G>A (p.Arg263Gln) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000670694] Chr9:34648862 [GRCh38]
Chr9:34648859 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.180del (p.Gln60fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000671193] Chr9:34647186 [GRCh38]
Chr9:34647183 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.3(GALT):c.-130_-129insCAGT microsatellite Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000674244] Chr9:34646575..34646576 [GRCh38]
Chr9:34646572..34646573 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.378-2A>T single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000666142] Chr9:34647830 [GRCh38]
Chr9:34647827 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.938G>A (p.Trp313Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000666311] Chr9:34649443 [GRCh38]
Chr9:34649440 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000664855] Chr9:34648888 [GRCh38]
Chr9:34648885 [GRCh37]
Chr9:9p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.346C>A (p.Leu116Ile) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000670466] Chr9:34647674 [GRCh38]
Chr9:34647671 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.561_564+9del deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000670473] Chr9:34648166..34648178 [GRCh38]
Chr9:34648163..34648175 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.1059+1G>T single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000673725] Chr9:34649565 [GRCh38]
Chr9:34649562 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.572C>A (p.Ala191Asp) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000665734] Chr9:34648341 [GRCh38]
Chr9:34648338 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.164del (p.Gly55fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000673179] Chr9:34647168 [GRCh38]
Chr9:34647165 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.336T>G (p.Ser112Arg) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000671407] Chr9:34647664 [GRCh38]
Chr9:34647661 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.507+10G>A single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000671754] Chr9:34647971 [GRCh38]
Chr9:34647968 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.616C>T (p.Gln206Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000673298] Chr9:34648385 [GRCh38]
Chr9:34648382 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.527C>T (p.Ala176Val) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000674651] Chr9:34648134 [GRCh38]
Chr9:34648131 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.687G>A (p.Lys229=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000672618] Chr9:34648456 [GRCh38]
Chr9:34648453 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.203A>G (p.His68Arg) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000673177] Chr9:34647209 [GRCh38]
Chr9:34647206 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.14_23dup (p.Gln9fs) duplication Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000664919] Chr9:34646717..34646718 [GRCh38]
Chr9:34646714..34646715 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.979_986del (p.Leu327fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000674843] Chr9:34649479..34649486 [GRCh38]
Chr9:34649476..34649483 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.564+1G>T single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000673621] Chr9:34648172 [GRCh38]
Chr9:34648169 [GRCh37]
Chr9:9p13.3
likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NM_000155.4(GALT):c.32G>A (p.Arg11His) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000686259]|Galactosemia [RCV001276327] Chr9:34646736 [GRCh38]
Chr9:34646733 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.827C>G (p.Ala276Gly) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000695027] Chr9:34649004 [GRCh38]
Chr9:34649001 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34645556)_(36277059_?)dup duplication Anauxetic dysplasia [RCV000708053] Chr9:34645559..36277062 [GRCh38]
Chr9:34645556..36277059 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34458984)_(36277059_?)dup duplication Distal spinal muscular atrophy, autosomal recessive 2 [RCV000708492] Chr9:34458984..36277059 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34458984)_(35809462_?)del deletion Hyperphosphatasia with mental retardation syndrome 2 [RCV000708109] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.377+2dup duplication Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001004334] Chr9:34647706..34647707 [GRCh38]
Chr9:34647703..34647704 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.900G>A (p.Trp300Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001004335] Chr9:34649077 [GRCh38]
Chr9:34649074 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001001297] Chr9:34649554 [GRCh38]
Chr9:34649551 [GRCh37]
Chr9:9p13.3
uncertain significance
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_000155.4(GALT):c.252+1G>A single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001004540] Chr9:34647259 [GRCh38]
Chr9:34647256 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.593T>C (p.Ile198Thr) single nucleotide variant not provided [RCV000756199] Chr9:34648362 [GRCh38]
Chr9:34648359 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.*96A>C single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001165906] Chr9:34650545 [GRCh38]
Chr9:34650542 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.700C>T (p.Leu234=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000982866] Chr9:34648774 [GRCh38]
Chr9:34648771 [GRCh37]
Chr9:9p13.3
likely benign
NM_000155.4(GALT):c.1030C>T (p.Gln344Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001035668] Chr9:34649535 [GRCh38]
Chr9:34649532 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.976C>T (p.Leu326Phe) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001037747] Chr9:34649481 [GRCh38]
Chr9:34649478 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.295T>A (p.Phe99Ile) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001064136] Chr9:34647534 [GRCh38]
Chr9:34647531 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.550C>T (p.His184Tyr) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001064137]|Galactosemia [RCV001276271] Chr9:34648157 [GRCh38]
Chr9:34648154 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.542C>A (p.Ser181Tyr) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001065514] Chr9:34648149 [GRCh38]
Chr9:34648146 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.691C>G (p.Arg231Gly) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001057482] Chr9:34648765 [GRCh38]
Chr9:34648762 [GRCh37]
Chr9:9p13.3
likely pathogenic
NC_000009.12:g.(?_34645559)_(34648914_?)del deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001033887] Chr9:34645556..34648911 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.799C>T (p.Leu267=) single nucleotide variant not specified [RCV000780279] Chr9:34648873 [GRCh38]
Chr9:34648870 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
NM_000155.4(GALT):c.1022T>C (p.Met341Thr) single nucleotide variant not specified [RCV000781402] Chr9:34649527 [GRCh38]
Chr9:34649524 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.754C>A (p.Gln252Lys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001347764]|not specified [RCV000781407] Chr9:34648828 [GRCh38]
Chr9:34648825 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.1128A>T (p.Ala376=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000941172]|Galactosemia [RCV001276337]|not specified [RCV000780276] Chr9:34650437 [GRCh38]
Chr9:34650434 [GRCh37]
Chr9:9p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.390C>T (p.Cys130=) single nucleotide variant not specified [RCV000780278] Chr9:34647844 [GRCh38]
Chr9:34647841 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
NM_000155.4(GALT):c.598C>T (p.Gln200Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000781404] Chr9:34648367 [GRCh38]
Chr9:34648364 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_000155.4(GALT):c.313G>A (p.Asp105Asn) single nucleotide variant not specified [RCV000781406] Chr9:34647552 [GRCh38]
Chr9:34647549 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.820+18G>A single nucleotide variant not specified [RCV000781403] Chr9:34648912 [GRCh38]
Chr9:34648909 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_000155.4(GALT):c.459A>G (p.Ala153=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000895213] Chr9:34647913 [GRCh38]
Chr9:34647910 [GRCh37]
Chr9:9p13.3
likely benign
NM_000155.4(GALT):c.1071A>G (p.Arg357=) single nucleotide variant not provided [RCV000983274] Chr9:34650380 [GRCh38]
Chr9:34650377 [GRCh37]
Chr9:9p13.3
likely benign
NM_000155.4(GALT):c.1077G>A (p.Arg359=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000945139] Chr9:34650386 [GRCh38]
Chr9:34650383 [GRCh37]
Chr9:9p13.3
likely benign
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_000155.4(GALT):c.82+8C>T single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000879102] Chr9:34646794 [GRCh38]
Chr9:34646791 [GRCh37]
Chr9:9p13.3
likely benign
NM_000155.4(GALT):c.507+12C>T single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001168022]|not specified [RCV000780277] Chr9:34647973 [GRCh38]
Chr9:34647970 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.377+55T>C single nucleotide variant not specified [RCV000780281] Chr9:34647760 [GRCh38]
Chr9:34647757 [GRCh37]
Chr9:9p13.3
benign
NM_000155.4(GALT):c.413C>G (p.Thr138Arg) single nucleotide variant Galactosemia [RCV001276266]|not specified [RCV000781401] Chr9:34647867 [GRCh38]
Chr9:34647864 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.253-5G>A single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000938155]|not specified [RCV001194274] Chr9:34647487 [GRCh38]
Chr9:34647484 [GRCh37]
Chr9:9p13.3
benign|uncertain significance
NM_000155.2(GALT):c.[-1039_753del;820+50_*789delinsGAATAGACCCCA] deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000114378] Chr9:34645664..34648825 [GRCh38]
Chr9:34645661..34648822 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.617A>G (p.Gln206Arg) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000805776] Chr9:34648386 [GRCh38]
Chr9:34648383 [GRCh37]
Chr9:9p13.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 copy number gain not provided [RCV000849826] Chr9:34542635..68210033 [GRCh37]
Chr9:9p13.3-q13
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NM_000155.4(GALT):c.211C>T (p.Leu71Phe) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001167406] Chr9:34647217 [GRCh38]
Chr9:34647214 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.270T>C (p.Asp90=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001167407] Chr9:34647509 [GRCh38]
Chr9:34647506 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.378-12G>A single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001167408] Chr9:34647820 [GRCh38]
Chr9:34647817 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.378-7C>T single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001167409] Chr9:34647825 [GRCh38]
Chr9:34647822 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
NC_000009.12:g.(?_34646609)_(34650459_?)del deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000795441] Chr9:34646609..34650459 [GRCh38]
Chr9:34646606..34650456 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.773G>A (p.Arg258His) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001168023] Chr9:34648847 [GRCh38]
Chr9:34648844 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.821-7A>G single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000804257] Chr9:34648991 [GRCh38]
Chr9:34648988 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.231G>A (p.Gly77=) single nucleotide variant not provided [RCV000976715] Chr9:34647237 [GRCh38]
Chr9:34647234 [GRCh37]
Chr9:9p13.3
likely benign
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_000155.4(GALT):c.2T>C (p.Met1Thr) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000988176] Chr9:34646706 [GRCh38]
Chr9:34646703 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.856_864del (p.Tyr286_Asn288del) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000988178] Chr9:34649033..34649041 [GRCh38]
Chr9:34649030..34649038 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.895G>A (p.Gly299Ser) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000988179] Chr9:34649072 [GRCh38]
Chr9:34649069 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.253-6C>T single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001239465] Chr9:34647486 [GRCh38]
Chr9:34647483 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.12:g.34646584C>G single nucleotide variant not specified [RCV001194275] Chr9:34646584 [GRCh38]
Chr9:34646581 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.632G>C (p.Ser211Thr) single nucleotide variant not specified [RCV001194277] Chr9:34648401 [GRCh38]
Chr9:34648398 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.328+33G>A single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001229650] Chr9:34647600 [GRCh38]
Chr9:34647597 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.1055A>G (p.Glu352Gly) single nucleotide variant not specified [RCV001201298] Chr9:34649560 [GRCh38]
Chr9:34649557 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.134C>A (p.Ser45Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000988177] Chr9:34647140 [GRCh38]
Chr9:34647137 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.*138C>T single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001165908] Chr9:34650587 [GRCh38]
Chr9:34650584 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.1116C>T (p.Asp372=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000932517]|Galactosemia [RCV001276336] Chr9:34650425 [GRCh38]
Chr9:34650422 [GRCh37]
Chr9:9p13.3
likely benign|uncertain significance
NM_000155.4(GALT):c.378-9A>G single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000978676] Chr9:34647823 [GRCh38]
Chr9:34647820 [GRCh37]
Chr9:9p13.3
likely benign
NM_000155.4(GALT):c.1135G>A (p.Ala379Thr) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000910757] Chr9:34650444 [GRCh38]
Chr9:34650441 [GRCh37]
Chr9:9p13.3
likely benign
NM_000155.4(GALT):c.267C>T (p.Tyr89=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000929972] Chr9:34647506 [GRCh38]
Chr9:34647503 [GRCh37]
Chr9:9p13.3
likely benign
NM_000155.4(GALT):c.414G>A (p.Thr138=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000895512]|Galactosemia [RCV001276329] Chr9:34647868 [GRCh38]
Chr9:34647865 [GRCh37]
Chr9:9p13.3
likely benign
NM_000155.4(GALT):c.919T>A (p.Ser307Thr) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000908301]|Galactosemia [RCV001276335] Chr9:34649424 [GRCh38]
Chr9:34649421 [GRCh37]
Chr9:9p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000155.4(GALT):c.502_504del (p.Val168del) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001239116] Chr9:34647955..34647957 [GRCh38]
Chr9:34647952..34647954 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.*148T>C single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001165909] Chr9:34650597 [GRCh38]
Chr9:34650594 [GRCh37]
Chr9:9p13.3
likely benign
NM_000155.4(GALT):c.904+7C>A single nucleotide variant not specified [RCV001194276] Chr9:34649088 [GRCh38]
Chr9:34649085 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001258332.1(GALT):c.-290G>A single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001167405] Chr9:34646617 [GRCh38]
Chr9:34646614 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.480G>A (p.Glu160=) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000913210] Chr9:34647934 [GRCh38]
Chr9:34647931 [GRCh37]
Chr9:9p13.3
likely benign
NM_000155.4(GALT):c.1094A>G (p.His365Arg) single nucleotide variant not specified [RCV001193606] Chr9:34650403 [GRCh38]
Chr9:34650400 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.688-12_688-11del deletion not specified [RCV001192369] Chr9:34648749..34648750 [GRCh38]
Chr9:34648746..34648747 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.2T>G (p.Met1Arg) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001004538] Chr9:34646706 [GRCh38]
Chr9:34646703 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.29_48delinsGACC (p.Gln10fs) indel Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001004539] Chr9:34646733..34646752 [GRCh38]
Chr9:34646730..34646749 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.*18C>G single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001168796] Chr9:34650467 [GRCh38]
Chr9:34650464 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.359del (p.Lys120fs) deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001056094] Chr9:34647685 [GRCh38]
Chr9:34647682 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.936C>G (p.Asn312Lys) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001168794] Chr9:34649441 [GRCh38]
Chr9:34649438 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.1085C>T (p.Pro362Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001235565] Chr9:34650394 [GRCh38]
Chr9:34650391 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.762G>A (p.Leu254=) single nucleotide variant not specified [RCV001201221] Chr9:34648836 [GRCh38]
Chr9:34648833 [GRCh37]
Chr9:9p13.3
likely benign
NM_000155.4(GALT):c.904+1G>A single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001047213] Chr9:34649082 [GRCh38]
Chr9:34649079 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.1008G>A (p.Met336Ile) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001248010] Chr9:34649513 [GRCh38]
Chr9:34649510 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.797A>G (p.Glu266Gly) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001213845] Chr9:34648871 [GRCh38]
Chr9:34648868 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.409G>A (p.Val137Ile) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001167410] Chr9:34647863 [GRCh38]
Chr9:34647860 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.*105A>G single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001165907] Chr9:34650554 [GRCh38]
Chr9:34650551 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.688-1G>C single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001204828] Chr9:34648761 [GRCh38]
Chr9:34648758 [GRCh37]
Chr9:9p13.3
likely pathogenic
NC_000009.12:g.(?_34645559)_(34649574_?)del deletion Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001033878] Chr9:34645556..34649571 [GRCh37]
Chr9:9p13.3
pathogenic
NM_000155.4(GALT):c.514G>T (p.Glu172Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001263987] Chr9:34648121 [GRCh38]
Chr9:34648118 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.561C>A (p.Cys187Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001263988] Chr9:34648168 [GRCh38]
Chr9:34648165 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.670C>T (p.Gln224Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001263989] Chr9:34648439 [GRCh38]
Chr9:34648436 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.796G>T (p.Glu266Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001263991] Chr9:34648870 [GRCh38]
Chr9:34648867 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.853A>T (p.Lys285Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001263992] Chr9:34649030 [GRCh38]
Chr9:34649027 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.737G>A (p.Trp246Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001263990] Chr9:34648811 [GRCh38]
Chr9:34648808 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_000155.4(GALT):c.888C>A (p.Tyr296Ter) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001263993] Chr9:34649065 [GRCh38]
Chr9:34649062 [GRCh37]
Chr9:9p13.3
likely pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2
likely pathogenic
NM_000155.4(GALT):c.346C>G (p.Leu116Val) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001309874] Chr9:34647674 [GRCh38]
Chr9:34647671 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.278T>C (p.Phe93Ser) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001329065] Chr9:34647517 [GRCh38]
Chr9:34647514 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.863A>G (p.Asn288Ser) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001302084] Chr9:34649040 [GRCh38]
Chr9:34649037 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.-11C>A single nucleotide variant Galactosemia [RCV001279906] Chr9:34646694 [GRCh38]
Chr9:34646691 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34458994)_(35072710_?)dup duplication Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [RCV001346193] Chr9:34458994..35072710 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_000155.4(GALT):c.419C>T (p.Pro140Leu) single nucleotide variant Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV001343328] Chr9:34647873 [GRCh38]
Chr9:34647870 [GRCh37]
Chr9:9p13.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4135 AgrOrtholog
COSMIC GALT COSMIC
Ensembl Genes ENSG00000213930 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000368119 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000401956 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432839 UniProtKB/TrEMBL
  ENSP00000450419 UniProtKB/TrEMBL
  ENSP00000450942 UniProtKB/TrEMBL
  ENSP00000451435 UniProtKB/TrEMBL
  ENSP00000451756 UniProtKB/TrEMBL
Ensembl Transcript ENST00000378842 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000450095 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000473506 UniProtKB/TrEMBL
  ENST00000554085 UniProtKB/TrEMBL
  ENST00000554550 UniProtKB/TrEMBL
  ENST00000554897 UniProtKB/TrEMBL
  ENST00000556244 UniProtKB/TrEMBL
Gene3D-CATH 3.30.428.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000213930 GTEx
HGNC ID HGNC:4135 ENTREZGENE
Human Proteome Map GALT Human Proteome Map
InterPro GalP_UDPtransf1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GalP_UDPtransf1_His-AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GalP_Utransf_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GalP_Utransf_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HIT-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2592 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2592 ENTREZGENE
OMIM 230400 OMIM
  606999 OMIM
PANTHER PTHR11943 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GalP_UDP_tr_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GalP_UDP_transf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28548 PharmGKB
PIRSF GalT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE GAL_P_UDP_TRANSF_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54197 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs galT_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z3Y7 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z4I0_HUMAN UniProtKB/TrEMBL
  B2RAT6 ENTREZGENE, UniProtKB/TrEMBL
  C1P5Z6_HUMAN UniProtKB/TrEMBL
  C8CHJ3_HUMAN UniProtKB/TrEMBL
  C8CHJ4_HUMAN UniProtKB/TrEMBL
  D0EM86_HUMAN UniProtKB/TrEMBL
  D0EM87_HUMAN UniProtKB/TrEMBL
  D1MBF5_HUMAN UniProtKB/TrEMBL
  D1MBF6_HUMAN UniProtKB/TrEMBL
  E5LCI1_HUMAN UniProtKB/TrEMBL
  F2Z2X9_HUMAN UniProtKB/TrEMBL
  F6KV90_HUMAN UniProtKB/TrEMBL
  G3V223_HUMAN UniProtKB/TrEMBL
  G3V3U5_HUMAN UniProtKB/TrEMBL
  GALT_HUMAN UniProtKB/Swiss-Prot
  H0YJL3_HUMAN UniProtKB/TrEMBL
  P07902 ENTREZGENE
  P78433_HUMAN UniProtKB/TrEMBL
  Q14354_HUMAN UniProtKB/TrEMBL
  Q14362_HUMAN UniProtKB/TrEMBL
  Q14366_HUMAN UniProtKB/TrEMBL
  Q14367_HUMAN UniProtKB/TrEMBL
  Q14368_HUMAN UniProtKB/TrEMBL
  Q14379_HUMAN UniProtKB/TrEMBL
  Q14388_HUMAN UniProtKB/TrEMBL
  Q16554_HUMAN UniProtKB/TrEMBL
  Q7KZ63_HUMAN UniProtKB/TrEMBL
  Q9UMJ9_HUMAN UniProtKB/TrEMBL
UniProt Secondary B4E097 UniProtKB/Swiss-Prot
  E7ET32 UniProtKB/Swiss-Prot
  Q14355 UniProtKB/Swiss-Prot
  Q14356 UniProtKB/Swiss-Prot
  Q14357 UniProtKB/Swiss-Prot
  Q14358 UniProtKB/Swiss-Prot
  Q14359 UniProtKB/Swiss-Prot
  Q14360 UniProtKB/Swiss-Prot
  Q14361 UniProtKB/Swiss-Prot
  Q14363 UniProtKB/Swiss-Prot
  Q14364 UniProtKB/Swiss-Prot
  Q14365 UniProtKB/Swiss-Prot
  Q14369 UniProtKB/Swiss-Prot
  Q14370 UniProtKB/Swiss-Prot
  Q14371 UniProtKB/Swiss-Prot
  Q14372 UniProtKB/Swiss-Prot
  Q14373 UniProtKB/Swiss-Prot
  Q14374 UniProtKB/Swiss-Prot
  Q14375 UniProtKB/Swiss-Prot
  Q14377 UniProtKB/Swiss-Prot
  Q14378 UniProtKB/Swiss-Prot
  Q14380 UniProtKB/Swiss-Prot
  Q14381 UniProtKB/Swiss-Prot
  Q14382 UniProtKB/Swiss-Prot
  Q14383 UniProtKB/Swiss-Prot
  Q14384 UniProtKB/Swiss-Prot
  Q14385 UniProtKB/Swiss-Prot
  Q14386 UniProtKB/Swiss-Prot
  Q14387 UniProtKB/Swiss-Prot
  Q14389 UniProtKB/Swiss-Prot
  Q16766 UniProtKB/Swiss-Prot
  Q53XK1 UniProtKB/Swiss-Prot
  Q5VZ81 UniProtKB/Swiss-Prot
  Q96BY1 UniProtKB/Swiss-Prot