GALC (galactosylceramidase) - Rat Genome Database

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Gene: GALC (galactosylceramidase) Homo sapiens
Analyze
Symbol: GALC
Name: galactosylceramidase
RGD ID: 1347926
HGNC Page HGNC
Description: Exhibits galactosylceramidase activity. Involved in galactosylceramide catabolic process. Predicted to localize to lysosome. Implicated in Krabbe disease. Biomarker of Creutzfeldt-Jakob disease and Mycoplasma pneumoniae pneumonia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: galactocerebrosidase; galactocerebroside beta-galactosidase; galactosylceramide beta-galactosidase; galactosylceraminidase; GALCERase; testis tissue sperm-binding protein Li 88E; testis tissue sperm-binding protein Li 89A
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 Ensembl1487,837,820 - 87,993,665 (-)EnsemblGRCh38hg38GRCh38
GRCh381487,933,014 - 87,993,665 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371488,399,358 - 88,460,009 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361487,469,111 - 87,529,660 (-)NCBINCBI36hg18NCBI36
Build 341487,469,112 - 87,529,596NCBI
Celera1468,445,026 - 68,505,593 (-)NCBI
Cytogenetic Map14q31.3NCBI
HuRef1468,569,486 - 68,630,135 (-)NCBIHuRef
CHM1_11488,337,479 - 88,398,139 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function
galactosylceramidase activity  (IBA,IDA,IEA,ISS,TAS)

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

Human Phenotype
Abnormal CNS myelination  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal enzyme/coenzyme activity  (IAGP)
Abnormal flash visual evoked potentials  (IAGP)
Abnormal heart rate variability  (IAGP)
Abnormal midbrain morphology  (IAGP)
Abnormal periventricular white matter morphology  (IAGP)
Abnormal pons morphology  (IAGP)
Abnormality of brain morphology  (IAGP)
Abnormality of the medulla oblongata  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Acroparesthesia  (IAGP)
Amblyopia  (IAGP)
Ankle clonus  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autoimmune thrombocytopenia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Blindness  (IAGP)
Breech presentation  (IAGP)
Broad-based gait  (IAGP)
Cachexia  (IAGP)
Cherry red spot of the macula  (IAGP)
Clumsiness  (IAGP)
CNS demyelination  (IAGP)
Decerebrate rigidity  (IAGP)
Decreased head circumference  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Developmental regression  (IAGP)
Difficulty walking  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Dysarthria  (IAGP)
Dysmyelinating leukodystrophy  (IAGP)
EEG abnormality  (IAGP)
EEG with persistent abnormal rhythmic activity  (IAGP)
Elevated brain choline level by MRS  (IAGP)
EMG abnormality  (IAGP)
EMG: axonal abnormality  (IAGP)
Emotional lability  (IAGP)
Encephalopathy  (IAGP)
Erectile dysfunction  (IAGP)
Esotropia  (IAGP)
Failure to thrive  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Feeding difficulties  (IAGP)
Frequent falls  (IAGP)
Functional motor deficit  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized convulsive status epilepticus  (IAGP)
Generalized myoclonic seizure  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hemiparesis  (IAGP)
Hemiplegia  (IAGP)
Heterotropia  (IAGP)
Hoffmann sign  (IAGP)
Hydrocephalus  (IAGP)
Hyperactive deep tendon reflexes  (IAGP)
Hyperesthesia  (IAGP)
Hypertonia  (IAGP)
Hypointensity of cerebral white matter on MRI  (IAGP)
Hypopigmented skin patches  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Impaired tactile sensation  (IAGP)
Inappropriate crying  (IAGP)
Increased CSF protein  (IAGP)
Increased head circumference  (IAGP)
Increased intracranial pressure  (IAGP)
Infantile axial hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Irritability  (IAGP)
Laryngomalacia  (IAGP)
Leukodystrophy  (IAGP)
Loss of ability to walk  (IAGP)
Loss of speech  (IAGP)
Lower limb muscle weakness  (IAGP)
Lower limb spasticity  (IAGP)
Mental deterioration  (IAGP)
Morphological abnormality of the corticospinal tract  (IAGP)
Motor delay  (IAGP)
Motor deterioration  (IAGP)
Muscle stiffness  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Myoclonus  (IAGP)
Nasogastric tube feeding in infancy  (IAGP)
Neck muscle weakness  (IAGP)
Neonatal hypoglycemia  (IAGP)
Neurodegeneration  (IAGP)
Neuromuscular dysphagia  (IAGP)
Nystagmus  (IAGP)
Opisthotonus  (IAGP)
Optic atrophy  (IAGP)
Peripheral demyelination  (IAGP)
Peripheral neuropathy  (IAGP)
Pes cavus  (IAGP)
Photophobia  (IAGP)
Poor head control  (IAGP)
Progressive inability to walk  (IAGP)
Progressive neurologic deterioration  (IAGP)
Progressive spastic paraparesis  (IAGP)
Progressive spasticity  (IAGP)
Progressive visual loss  (IAGP)
Prolonged brainstem auditory evoked potentials  (IAGP)
Psychomotor deterioration  (IAGP)
Recurrent fever  (IAGP)
Recurrent infections  (IAGP)
Reduced brain glutamate level by MRS  (IAGP)
Reduced brain N-acetyl aspartate level by MRS  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Seizure  (IAGP)
Sensorimotor neuropathy  (IAGP)
Shoulder girdle muscle weakness  (IAGP)
Slow pupillary light response  (IAGP)
Slurred speech  (IAGP)
Small for gestational age  (IAGP)
Spastic diplegia  (IAGP)
Spastic paraparesis  (IAGP)
Status epilepticus  (IAGP)
Strabismus  (IAGP)
Temperature instability  (IAGP)
Tetraparesis  (IAGP)
Tetraplegia  (IAGP)
Tremor  (IAGP)
Unexplained fevers  (IAGP)
Upper limb muscle weakness  (IAGP)
Urinary incontinence  (IAGP)
Visual loss  (IAGP)
Vomiting  (IAGP)
References

Additional References at PubMed
PMID:3278379   PMID:6811701   PMID:7417782   PMID:7581365   PMID:7601472   PMID:8162701   PMID:8281145   PMID:8297359   PMID:8399327   PMID:8595408   PMID:8786069   PMID:8889548  
PMID:8940268   PMID:9272171   PMID:9338580   PMID:9434153   PMID:10234611   PMID:10477434   PMID:10833326   PMID:11814461   PMID:12477932   PMID:15489334   PMID:15657896   PMID:16344560  
PMID:16607461   PMID:17458901   PMID:17579360   PMID:17986221   PMID:19460752   PMID:20301334   PMID:20301416   PMID:20410102   PMID:20800603   PMID:20877624   PMID:20886637   PMID:21070211  
PMID:21102463   PMID:21873635   PMID:22073273   PMID:22792062   PMID:22923054   PMID:23044012   PMID:23128233   PMID:23276707   PMID:23376485   PMID:23462331   PMID:23648065   PMID:23649392  
PMID:24297913   PMID:24501781   PMID:25101718   PMID:25943734   PMID:26178533   PMID:26186194   PMID:26617822   PMID:26915362   PMID:27173435   PMID:27238910   PMID:27442402   PMID:27638582  
PMID:27638593   PMID:28514442   PMID:28825628   PMID:29136295   PMID:29323104   PMID:29481565   PMID:29758927   PMID:30021884   PMID:31091453   PMID:31185936   PMID:31869371   PMID:32304783  
PMID:32998995   PMID:33097716  


Genomics

Comparative Map Data
GALC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1487,837,820 - 87,993,665 (-)EnsemblGRCh38hg38GRCh38
GRCh381487,933,014 - 87,993,665 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371488,399,358 - 88,460,009 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361487,469,111 - 87,529,660 (-)NCBINCBI36hg18NCBI36
Build 341487,469,112 - 87,529,596NCBI
Celera1468,445,026 - 68,505,593 (-)NCBI
Cytogenetic Map14q31.3NCBI
HuRef1468,569,486 - 68,630,135 (-)NCBIHuRef
CHM1_11488,337,479 - 88,398,139 (-)NCBICHM1_1
Galc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391298,168,543 - 98,226,565 (-)NCBIGRCm39mm39
GRCm39 Ensembl1298,168,553 - 98,225,718 (-)Ensembl
GRCm381298,202,287 - 98,259,459 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1298,202,294 - 98,259,459 (-)EnsemblGRCm38mm10GRCm38
MGSCv371299,440,510 - 99,497,547 (-)NCBIGRCm37mm9NCBIm37
MGSCv361298,603,350 - 98,660,387 (-)NCBImm8
Celera1299,428,771 - 99,484,984 (-)NCBICelera
Cytogenetic Map12ENCBI
cM Map1249.83NCBI
Galc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.26117,452,888 - 117,522,281 (-)NCBI
Rnor_6.0 Ensembl6122,178,602 - 122,239,614 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.06122,177,195 - 122,239,411 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.06131,392,298 - 131,454,514 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46122,355,659 - 122,416,986 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.16122,359,405 - 122,420,733 (-)NCBI
Celera6115,018,409 - 115,078,607 (-)NCBICelera
Cytogenetic Map6q32NCBI
Galc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543810,667,807 - 10,704,384 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543810,667,807 - 10,704,386 (-)NCBIChiLan1.0ChiLan1.0
GALC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11487,905,098 - 87,965,769 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1487,905,098 - 87,965,770 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01468,545,070 - 68,605,730 (-)NCBIMhudiblu_PPA_v0panPan3
GALC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1859,266,693 - 59,324,825 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl859,267,818 - 59,324,967 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha858,846,151 - 58,903,131 (-)NCBI
ROS_Cfam_1.0859,531,522 - 59,589,663 (-)NCBI
UMICH_Zoey_3.1859,214,260 - 59,271,257 (-)NCBI
UNSW_CanFamBas_1.0859,260,650 - 59,317,658 (-)NCBI
UU_Cfam_GSD_1.0859,594,667 - 59,651,690 (-)NCBI
Galc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864016,532,259 - 16,624,784 (+)NCBI
SpeTri2.0NW_00493648815,444,184 - 15,519,395 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GALC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl7109,894,188 - 109,961,407 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.17109,894,576 - 109,961,407 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27116,348,927 - 116,415,759 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GALC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12465,556,763 - 65,621,693 (-)NCBI
ChlSab1.1 Ensembl2465,558,074 - 65,621,258 (-)Ensembl
Vero_WHO_p1.0NW_02366605352,874,548 - 52,988,107 (-)NCBI
Galc
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473414,355,349 - 14,462,869 (+)NCBI

Position Markers
D14S48  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371488,428,727 - 88,429,001UniSTSGRCh37
Build 361487,498,480 - 87,498,754RGDNCBI36
Celera1468,474,422 - 68,474,688RGD
Cytogenetic Map14q31UniSTS
HuRef1468,598,860 - 68,599,126UniSTS
Marshfield Genetic Map1495.89RGD
Marshfield Genetic Map1495.89UniSTS
deCODE Assembly Map1486.54UniSTS
Whitehead-YAC Contig Map14 UniSTS
GDB:599296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371488,431,932 - 88,434,828UniSTSGRCh37
Build 361487,501,685 - 87,504,581RGDNCBI36
Celera1468,477,619 - 68,480,515RGD
Cytogenetic Map14q31UniSTS
HuRef1468,602,057 - 68,604,953UniSTS
GDB:599299  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371488,428,170 - 88,429,886UniSTSGRCh37
Build 361487,497,923 - 87,499,639RGDNCBI36
Celera1468,473,865 - 68,475,573RGD
HuRef1468,598,303 - 68,600,011UniSTS
GDB:599311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371488,414,084 - 88,417,031UniSTSGRCh37
Build 361487,483,837 - 87,486,784RGDNCBI36
Celera1468,459,777 - 68,462,723RGD
Cytogenetic Map14q31.3UniSTS
Cytogenetic Map14q31UniSTS
HuRef1468,584,215 - 68,587,161UniSTS
GDB:599315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371488,412,030 - 88,414,103UniSTSGRCh37
Build 361487,481,783 - 87,483,856RGDNCBI36
Celera1468,457,718 - 68,459,796RGD
Cytogenetic Map14q31.3UniSTS
Cytogenetic Map14q31UniSTS
HuRef1468,582,156 - 68,584,234UniSTS
SHGC-145060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371488,455,615 - 88,455,950UniSTSGRCh37
Build 361487,525,368 - 87,525,703RGDNCBI36
Celera1468,501,301 - 68,501,636RGD
Cytogenetic Map14q31UniSTS
HuRef1468,625,741 - 68,626,076UniSTS
TNG Radiation Hybrid Map1433856.0UniSTS
WI-9280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371488,400,065 - 88,400,186UniSTSGRCh37
Build 361487,469,818 - 87,469,939RGDNCBI36
Celera1468,445,733 - 68,445,854RGD
Cytogenetic Map14q31.3UniSTS
Cytogenetic Map14q31UniSTS
HuRef1468,570,190 - 68,570,311UniSTS
Whitehead-YAC Contig Map14 UniSTS
GDB:599291  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q31UniSTS
GDB:599283  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q31UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2907
Count of miRNA genes:1199
Interacting mature miRNAs:1476
Transcripts:ENST00000261304, ENST00000393568, ENST00000393569, ENST00000474294, ENST00000477716, ENST00000544807, ENST00000554372, ENST00000554916, ENST00000555000, ENST00000555179, ENST00000555956, ENST00000556261, ENST00000556879, ENST00000557316, ENST00000557520
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 1037 1104 1215 84 805 42 2226 387 2645 219 1132 1465 45 1021 1242 1
Low 1366 1886 503 532 1111 415 2116 1792 1076 182 307 135 128 1 183 1546 3 2
Below cutoff 33 1 7 7 33 7 14 18 13 18 19 12 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001201401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001201402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH003226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI025909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE501000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ015788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU675449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK299420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D25283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D25284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D86181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA247447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA323070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA332567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB366392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC334180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H80485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L23116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U77631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261304   ⟹   ENSP00000261304
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1487,933,014 - 87,993,182 (-)Ensembl
RefSeq Acc Id: ENST00000393568   ⟹   ENSP00000377198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1487,934,681 - 87,993,178 (-)Ensembl
RefSeq Acc Id: ENST00000393569   ⟹   ENSP00000377199
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1487,934,331 - 87,993,665 (-)Ensembl
RefSeq Acc Id: ENST00000474294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1487,963,272 - 87,993,154 (-)Ensembl
RefSeq Acc Id: ENST00000477716
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1487,968,393 - 87,976,864 (-)Ensembl
RefSeq Acc Id: ENST00000544807   ⟹   ENSP00000437513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1487,933,723 - 87,992,838 (-)Ensembl
RefSeq Acc Id: ENST00000554372   ⟹   ENSP00000451884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1487,982,205 - 87,993,172 (-)Ensembl
RefSeq Acc Id: ENST00000554916
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1487,976,358 - 87,989,647 (-)Ensembl
RefSeq Acc Id: ENST00000555000   ⟹   ENSP00000450472
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1487,837,820 - 87,980,648 (-)Ensembl
RefSeq Acc Id: ENST00000555179   ⟹   ENSP00000451480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1487,934,772 - 87,949,899 (-)Ensembl
RefSeq Acc Id: ENST00000555956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1487,987,752 - 87,988,523 (-)Ensembl
RefSeq Acc Id: ENST00000556261
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1487,981,203 - 87,988,172 (-)Ensembl
RefSeq Acc Id: ENST00000556879   ⟹   ENSP00000452208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1487,984,441 - 87,993,122 (-)Ensembl
RefSeq Acc Id: ENST00000557316   ⟹   ENSP00000452314
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1487,941,395 - 87,993,170 (-)Ensembl
RefSeq Acc Id: ENST00000557520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1487,959,553 - 87,965,623 (-)Ensembl
RefSeq Acc Id: ENST00000622264   ⟹   ENSP00000480649
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1487,963,314 - 87,993,154 (-)Ensembl
RefSeq Acc Id: NM_000153   ⟹   NP_000144
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381487,933,014 - 87,993,182 (-)NCBI
GRCh371488,304,164 - 88,460,009 (-)NCBI
Build 361487,469,111 - 87,529,660 (-)NCBI Archive
HuRef1468,569,486 - 68,630,135 (-)ENTREZGENE
CHM1_11488,337,479 - 88,397,745 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001201401   ⟹   NP_001188330
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381487,933,014 - 87,993,182 (-)NCBI
GRCh371488,304,164 - 88,460,009 (-)NCBI
HuRef1468,569,486 - 68,630,135 (-)ENTREZGENE
CHM1_11488,337,479 - 88,397,745 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001201402   ⟹   NP_001188331
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381487,933,014 - 87,993,665 (-)NCBI
GRCh371488,304,164 - 88,460,009 (-)NCBI
HuRef1468,569,486 - 68,630,135 (-)ENTREZGENE
CHM1_11488,337,479 - 88,398,139 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011536618   ⟹   XP_011534920
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381487,933,014 - 87,992,887 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001188331   ⟸   NM_001201402
- Peptide Label: isoform d
- UniProtKB: P54803 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001188330   ⟸   NM_001201401
- Peptide Label: isoform c precursor
- UniProtKB: P54803 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000144   ⟸   NM_000153
- Peptide Label: isoform a precursor
- UniProtKB: P54803 (UniProtKB/Swiss-Prot),   A0A0A0MQV0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011534920   ⟸   XM_011536618
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000451480   ⟸   ENST00000555179
RefSeq Acc Id: ENSP00000450472   ⟸   ENST00000555000
RefSeq Acc Id: ENSP00000452208   ⟸   ENST00000556879
RefSeq Acc Id: ENSP00000452314   ⟸   ENST00000557316
RefSeq Acc Id: ENSP00000480649   ⟸   ENST00000622264
RefSeq Acc Id: ENSP00000437513   ⟸   ENST00000544807
RefSeq Acc Id: ENSP00000377199   ⟸   ENST00000393569
RefSeq Acc Id: ENSP00000377198   ⟸   ENST00000393568
RefSeq Acc Id: ENSP00000261304   ⟸   ENST00000261304
RefSeq Acc Id: ENSP00000451884   ⟸   ENST00000554372
Protein Domains
Glyco_hydro_59M

Promoters
RGD ID:6791602
Promoter ID:HG_KWN:19925
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000261304,   NM_000153,   NM_001037525
Position:
Human AssemblyChrPosition (strand)Source
Build 361487,529,024 - 87,529,524 (-)MPROMDB
RGD ID:7228313
Promoter ID:EPDNEW_H19902
Type:initiation region
Name:GALC_1
Description:galactosylceramidase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381487,993,169 - 87,993,229EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000153.4(GALC):c.1788C>T (p.Phe596=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000546589] Chr14:87941441 [GRCh38]
Chr14:88407785 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1031C>G (p.Ser344Ter) single nucleotide variant not provided [RCV000518907] Chr14:87965507 [GRCh38]
Chr14:88431851 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4:c.(1161+1_1162-1)_(*1718_?)del deletion Intellectual disability [RCV001293369] Chr14:14q31.3 pathogenic
NM_000153.4(GALC):c.1236T>A (p.Val412=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000554170] Chr14:87950674 [GRCh38]
Chr14:88417018 [GRCh37]
Chr14:14q31.3
benign
GALC, GLY553ARG single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000023590] Chr14:14q31 pathogenic
GALC, IVS13DS, G-A, +1 single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000023591] Chr14:14q31 pathogenic
GALC, 1-BP DEL, 1901T deletion Galactosylceramide beta-galactosidase deficiency [RCV000023592] Chr14:14q31 pathogenic
GALC, 30-KB DEL, IVS10 deletion Galactosylceramide beta-galactosidase deficiency [RCV000004023] Chr14:14q31 pathogenic
NM_000153.4(GALC):c.592G>A (p.Glu198Lys) single nucleotide variant not provided [RCV000727591] Chr14:87982234 [GRCh38]
Chr14:88448578 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.500A>G (p.Asn167Ser) single nucleotide variant not provided [RCV000594045] Chr14:87984476 [GRCh38]
Chr14:88450820 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.195+10A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000552338] Chr14:87992960 [GRCh38]
Chr14:88459304 [GRCh37]
Chr14:14q31.3
benign|likely benign
NM_000153.4(GALC):c.1153G>T (p.Glu385Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000004022] Chr14:87963392 [GRCh38]
Chr14:88429736 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000023588]|not provided [RCV001270016] Chr14:87945593 [GRCh38]
Chr14:88411937 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.1796T>G (p.Ile599Ser) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000023589] Chr14:87941433 [GRCh38]
Chr14:88407777 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000023593]|not provided [RCV000363446] Chr14:87968386 [GRCh38]
Chr14:88434730 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000153.4(GALC):c.953C>G (p.Pro318Arg) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000023594] Chr14:87965585 [GRCh38]
Chr14:88431929 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.121G>A (p.Gly41Ser) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000023595] Chr14:87993044 [GRCh38]
Chr14:88459388 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.1042A>G (p.Thr348Ala) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001197511] Chr14:87963503 [GRCh38]
Chr14:88429847 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.169G>A (p.Gly57Ser) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000173074]|not provided [RCV000498062] Chr14:87992996 [GRCh38]
Chr14:88459340 [GRCh37]
Chr14:14q31.3
pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2
pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33
pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33
pathogenic
NM_000153.4(GALC):c.1161+2T>G single nucleotide variant not provided [RCV000173647] Chr14:87963382 [GRCh38]
Chr14:88429726 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.1162-4del deletion Abnormality of brain morphology [RCV000454160]|Galactosylceramide beta-galactosidase deficiency [RCV000292380]|not provided [RCV000588497]|not specified [RCV000078190] Chr14:87950752 [GRCh38]
Chr14:88417096 [GRCh37]
Chr14:14q31.3
likely pathogenic|benign
NM_000153.4(GALC):c.1350C>T (p.Ser450=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000277817]|not provided [RCV000675256]|not specified [RCV000078191] Chr14:87947867 [GRCh38]
Chr14:88414211 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000538364]|not provided [RCV000428446]|not specified [RCV000078192] Chr14:87947814 [GRCh38]
Chr14:88414158 [GRCh37]
Chr14:14q31.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.1671-15C>T single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000302125]|not provided [RCV000675255]|not specified [RCV000078193] Chr14:87941573 [GRCh38]
Chr14:88407917 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000399633]|not provided [RCV001249259]|not specified [RCV000078194] Chr14:87941544 [GRCh38]
Chr14:88407888 [GRCh37]
Chr14:14q31.3
benign|other|not provided
NM_000153.4(GALC):c.1698A>T (p.Val566=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000360908]|not provided [RCV000590062]|not specified [RCV000078195] Chr14:87941531 [GRCh38]
Chr14:88407875 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1834+5C>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000398764]|not provided [RCV000675254]|not specified [RCV000078196] Chr14:87941390 [GRCh38]
Chr14:88407734 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000290698]|not provided [RCV000586993]|not specified [RCV000078197] Chr14:87934869 [GRCh38]
Chr14:88401213 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.328+19T>A single nucleotide variant not provided [RCV000675266]|not specified [RCV000078198] Chr14:87988125 [GRCh38]
Chr14:88454469 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.330C>T (p.Asp110=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000370668]|not provided [RCV000675265]|not specified [RCV000078199] Chr14:87986601 [GRCh38]
Chr14:88452945 [GRCh37]
Chr14:14q31.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000178047]|not provided [RCV000790805]|not specified [RCV000256023] Chr14:87986597 [GRCh38]
Chr14:88452941 [GRCh37]
Chr14:14q31.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.349A>G (p.Met117Val) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000545705]|not provided [RCV000078201] Chr14:87986582 [GRCh38]
Chr14:88452926 [GRCh37]
Chr14:14q31.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.42G>C (p.Ala14=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000282939]|not provided [RCV000675273]|not specified [RCV000078202] Chr14:87993123 [GRCh38]
Chr14:88459467 [GRCh37]
Chr14:14q31.3
benign|likely benign
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000355494]|not specified [RCV000078203] Chr14:87984426 [GRCh38]
Chr14:88450770 [GRCh37]
Chr14:14q31.3
benign|likely benign|conflicting interpretations of pathogenicity|other
NM_000153.4(GALC):c.583-6T>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001237592]|not provided [RCV000078204] Chr14:87982249 [GRCh38]
Chr14:88448593 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.61G>C (p.Ala21Pro) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000322914]|not provided [RCV000675270]|not specified [RCV000078205] Chr14:87993104 [GRCh38]
Chr14:88459448 [GRCh37]
Chr14:14q31.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000340530]|not provided [RCV000675262]|not specified [RCV000078206] Chr14:87976368 [GRCh38]
Chr14:88442712 [GRCh37]
Chr14:14q31.3
benign|likely benign|uncertain significance|other
NM_000153.4(GALC):c.75C>A (p.Gly25=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000286631]|not provided [RCV000675268]|not specified [RCV000078207] Chr14:87993090 [GRCh38]
Chr14:88459434 [GRCh37]
Chr14:14q31.3
benign|likely benign
NM_000153.4(GALC):c.862T>C (p.Trp288Arg) single nucleotide variant not provided [RCV000180100] Chr14:87968381 [GRCh38]
Chr14:88434725 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.909-10A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000695814]|not provided [RCV000078209] Chr14:87965639 [GRCh38]
Chr14:88431983 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.984G>A (p.Gln328=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000343591]|not provided [RCV000675261]|not specified [RCV000078210] Chr14:87965554 [GRCh38]
Chr14:88431898 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1670+10A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001412252] Chr14:87945543 [GRCh38]
Chr14:88411887 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1162-6_1162-5delinsA indel Galactosylceramide beta-galactosidase deficiency [RCV000668956] Chr14:87950753..87950754 [GRCh38]
Chr14:88417097..88417098 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000174663]|not provided [RCV000723965] Chr14:87945680 [GRCh38]
Chr14:88412024 [GRCh37]
Chr14:14q31.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.205C>T (p.Arg69Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000175531]|not provided [RCV000723390] Chr14:87988514 [GRCh38]
Chr14:88454858 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.430del (p.Ile144fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV001059225]|not provided [RCV000255375] Chr14:87986501 [GRCh38]
Chr14:88452845 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.913A>G (p.Ile305Val) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000395980]|not specified [RCV000180466] Chr14:87965625 [GRCh38]
Chr14:88431969 [GRCh37]
Chr14:14q31.3
benign|likely benign
NM_000153.4(GALC):c.1339-1G>T single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001290963] Chr14:87947879 [GRCh38]
Chr14:88414223 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.1280A>G (p.Tyr427Cys) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001332226] Chr14:87949903 [GRCh38]
Chr14:88416247 [GRCh37]
Chr14:14q31.3
uncertain significance
GRCh38/hg38 14q31.3(chr14:87746480-88540154)x3 copy number gain See cases [RCV000133861] Chr14:87746480..88540154 [GRCh38]
Chr14:88212824..89006498 [GRCh37]
Chr14:87282577..88076251 [NCBI36]
Chr14:14q31.3
uncertain significance
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
NM_000153.4(GALC):c.1912G>A (p.Gly638Ser) single nucleotide variant not provided [RCV000175126]|not specified [RCV001174873] Chr14:87934878 [GRCh38]
Chr14:88401222 [GRCh37]
Chr14:14q31.3
uncertain significance
GRCh38/hg38 14q31.3(chr14:86155419-88321735)x3 copy number gain See cases [RCV000138221] Chr14:86155419..88321735 [GRCh38]
Chr14:86621763..88788079 [GRCh37]
Chr14:85691516..87857832 [NCBI36]
Chr14:14q31.3
likely benign
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
NM_000153.4(GALC):c.1620A>G (p.Thr540=) single nucleotide variant not specified [RCV000153295] Chr14:87945603 [GRCh38]
Chr14:88411947 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1592G>A (p.Arg531His) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000174662]|not provided [RCV000153296] Chr14:87945631 [GRCh38]
Chr14:88411975 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000153.3(GALC):c.1834+22dup duplication not provided [RCV000513715] Chr14:87941372..87941373 [GRCh38]
Chr14:88407716..88407717 [GRCh37]
Chr14:14q31.3
likely benign
Single allele deletion Normal pregnancy [RCV000161744] Chr14:87933144..87953014 [GRCh38]
Chr14:88399488..88419358 [GRCh37]
Chr14:14q31.3
not provided
NM_000153.4(GALC):c.659G>A (p.Arg220Gln) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000395974]|not specified [RCV000193133] Chr14:87976451 [GRCh38]
Chr14:88442795 [GRCh37]
Chr14:14q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.955del (p.Tyr319fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV000169089]|not provided [RCV000255073] Chr14:87965583 [GRCh38]
Chr14:88431927 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.908+1G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000169153] Chr14:87968334 [GRCh38]
Chr14:88434678 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.388G>A (p.Glu130Lys) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000169155] Chr14:87986543 [GRCh38]
Chr14:88452887 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1472del (p.Lys491fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV000169172] Chr14:87947745 [GRCh38]
Chr14:88414089 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.489G>A (p.Trp163Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000169212] Chr14:87984487 [GRCh38]
Chr14:88450831 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000169344]|Inborn genetic diseases [RCV001266084]|not provided [RCV000723436] Chr14:87941529 [GRCh38]
Chr14:88407873 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000169377]|not provided [RCV001269916] Chr14:87945632 [GRCh38]
Chr14:88411976 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.599C>A (p.Ser200Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000169386] Chr14:87982227 [GRCh38]
Chr14:88448571 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000169413]|not provided [RCV000727578] Chr14:87976452 [GRCh38]
Chr14:88442796 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000169525] Chr14:87945566 [GRCh38]
Chr14:88411910 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.331G>A (p.Gly111Ser) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000195270]|not provided [RCV001269999] Chr14:87986600 [GRCh38]
Chr14:88452944 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000285229]|not provided [RCV000522818] Chr14:87968335 [GRCh38]
Chr14:88434679 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000153.4(GALC):c.2041G>A (p.Val681Met) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000206966]|not provided [RCV001093132] Chr14:87934749 [GRCh38]
Chr14:88401093 [GRCh37]
Chr14:14q31.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000590447]|not provided [RCV000255537]|not specified [RCV000507823] Chr14:87965582 [GRCh38]
Chr14:88431926 [GRCh37]
Chr14:14q31.3
pathogenic|conflicting interpretations of pathogenicity
NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer) deletion Galactosylceramide beta-galactosidase deficiency [RCV000670467] Chr14:87939915 [GRCh38]
Chr14:88406259 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.195+1G>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000670477] Chr14:87992969 [GRCh38]
Chr14:88459313 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_001201402.1(GALC):c.81dup (p.Val28fs) duplication Galactosylceramide beta-galactosidase deficiency [RCV000670496] Chr14:87993418..87993419 [GRCh38]
Chr14:88459762..88459763 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.222C>G (p.Tyr74Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000669432] Chr14:87988497 [GRCh38]
Chr14:88454841 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.*14A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000669793] Chr14:87934718 [GRCh38]
Chr14:88401062 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000324608]|not provided [RCV000726405] Chr14:87945682 [GRCh38]
Chr14:88412026 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.1774G>T (p.Ala592Ser) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000669048] Chr14:87941455 [GRCh38]
Chr14:88407799 [GRCh37]
Chr14:14q31.3
uncertain significance
Single allele single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000669077] Chr14:87925176 [GRCh38]
Chr14:88391520 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.2T>C (p.Met1Thr) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000669875] Chr14:87993163 [GRCh38]
Chr14:88459507 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000345880] Chr14:87939915 [GRCh38]
Chr14:88406259 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.*12G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000668800] Chr14:87934720 [GRCh38]
Chr14:88401064 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.195+19G>A single nucleotide variant not specified [RCV000248468] Chr14:87992951 [GRCh38]
Chr14:88459295 [GRCh37]
Chr14:14q31.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000153.4(GALC):c.443-30C>T single nucleotide variant not specified [RCV000253376] Chr14:87984563 [GRCh38]
Chr14:88450907 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.443-12T>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001120667]|not specified [RCV000248594] Chr14:87984545 [GRCh38]
Chr14:88450889 [GRCh37]
Chr14:14q31.3
likely benign|uncertain significance
NM_000153.4(GALC):c.329-35G>A single nucleotide variant not specified [RCV000248801] Chr14:87986637 [GRCh38]
Chr14:88452981 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1161+38T>C single nucleotide variant not specified [RCV000241732] Chr14:87963346 [GRCh38]
Chr14:88429690 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.196-43C>T single nucleotide variant not specified [RCV000251830] Chr14:87988566 [GRCh38]
Chr14:88454910 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000984177]|not provided [RCV000256130] Chr14:87976361 [GRCh38]
Chr14:88442705 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.621+24T>C single nucleotide variant not provided [RCV000675263]|not specified [RCV000242507] Chr14:87982181 [GRCh38]
Chr14:88448525 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.18C>G (p.Leu6=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000279467]|not specified [RCV000252321] Chr14:87993147 [GRCh38]
Chr14:88459491 [GRCh37]
Chr14:14q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.1302C>T (p.Ser434=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000332805]|not provided [RCV000675258]|not specified [RCV000245133] Chr14:87949881 [GRCh38]
Chr14:88416225 [GRCh37]
Chr14:14q31.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000153.4(GALC):c.1670+19A>T single nucleotide variant not specified [RCV000242864] Chr14:87945534 [GRCh38]
Chr14:88411878 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.397T>C (p.Leu133=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000297415]|not specified [RCV000252951] Chr14:87986534 [GRCh38]
Chr14:88452878 [GRCh37]
Chr14:14q31.3
benign|likely benign
NM_000153.4(GALC):c.*1458T>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000301093] Chr14:87933274 [GRCh38]
Chr14:88399618 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.*1451C>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000265884] Chr14:87933281 [GRCh38]
Chr14:88399625 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.*1126G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000267767] Chr14:87933606 [GRCh38]
Chr14:88399950 [GRCh37]
Chr14:14q31.3
benign|likely benign
NM_000153.4(GALC):c.*1275G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000304690] Chr14:87933457 [GRCh38]
Chr14:88399801 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.*627A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000373804] Chr14:87934105 [GRCh38]
Chr14:88400449 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.997G>A (p.Gly333Arg) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000288663] Chr14:87965541 [GRCh38]
Chr14:88431885 [GRCh37]
Chr14:14q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.1072C>T (p.Leu358=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000328545]|not provided [RCV000675260]|not specified [RCV000424835] Chr14:87963473 [GRCh38]
Chr14:88429817 [GRCh37]
Chr14:14q31.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000153.4(GALC):c.*801A>T single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000377428] Chr14:87933931 [GRCh38]
Chr14:88400275 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.195+15G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000271678] Chr14:87992955 [GRCh38]
Chr14:88459299 [GRCh37]
Chr14:14q31.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.329-10_329-8del microsatellite Galactosylceramide beta-galactosidase deficiency [RCV000276205]|not provided [RCV000864600]|not specified [RCV000611455] Chr14:87986610..87986612 [GRCh38]
Chr14:88452954..88452956 [GRCh37]
Chr14:14q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.*395C>T single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000294345] Chr14:87934337 [GRCh38]
Chr14:88400681 [GRCh37]
Chr14:14q31.3
benign|likely benign
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000338048]|Intellectual disability [RCV001251992]|not provided [RCV000658703] Chr14:87993124 [GRCh38]
Chr14:88459468 [GRCh37]
Chr14:14q31.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000262278] Chr14:87945650 [GRCh38]
Chr14:88411994 [GRCh37]
Chr14:14q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.*626C>T single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000279227] Chr14:87934106 [GRCh38]
Chr14:88400450 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.*709A>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000319251] Chr14:87934023 [GRCh38]
Chr14:88400367 [GRCh37]
Chr14:14q31.3
benign|likely benign
NM_000153.4(GALC):c.*723G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000264088] Chr14:87934009 [GRCh38]
Chr14:88400353 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000812178]|not provided [RCV000271252] Chr14:87941512 [GRCh38]
Chr14:88407856 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.*989G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000322846] Chr14:87933743 [GRCh38]
Chr14:88400087 [GRCh37]
Chr14:14q31.3
benign
NM_001201402.2(GALC):c.117+198C>T single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000396263] Chr14:87993185 [GRCh38]
Chr14:88459529 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.2053C>A (p.Arg685Ser) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000349310] Chr14:87934737 [GRCh38]
Chr14:88401081 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.2001A>C (p.Gly667=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000397972] Chr14:87934789 [GRCh38]
Chr14:88401133 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.973A>G (p.Met325Val) single nucleotide variant not provided [RCV000345122] Chr14:87965565 [GRCh38]
Chr14:88431909 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1731C>T (p.Phe577=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000306103]|not specified [RCV000781393] Chr14:87941498 [GRCh38]
Chr14:88407842 [GRCh37]
Chr14:14q31.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.96G>T (p.Leu32=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000326760]|not specified [RCV000594216] Chr14:87993069 [GRCh38]
Chr14:88459413 [GRCh37]
Chr14:14q31.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.-67T>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000349528] Chr14:87993231 [GRCh38]
Chr14:88459575 [GRCh37]
Chr14:14q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.28T>C (p.Trp10Arg) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000373901] Chr14:87993137 [GRCh38]
Chr14:88459481 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.-68C>T single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000400385] Chr14:87993232 [GRCh38]
Chr14:88459576 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.*1588T>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000400503] Chr14:87933144 [GRCh38]
Chr14:88399488 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.328+6A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000330221] Chr14:87988138 [GRCh38]
Chr14:88454482 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1376A>G (p.His459Arg) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000353661] Chr14:87947841 [GRCh38]
Chr14:88414185 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.53C>T (p.Thr18Ile) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000377500]|not provided [RCV000675271] Chr14:87993112 [GRCh38]
Chr14:88459456 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1162-14dup duplication Galactosylceramide beta-galactosidase deficiency [RCV000386721] Chr14:87950751..87950752 [GRCh38]
Chr14:88417095..88417096 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.81C>T (p.Ala27=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000381404] Chr14:87993084 [GRCh38]
Chr14:88459428 [GRCh37]
Chr14:14q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.*1453A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000358158] Chr14:87933279 [GRCh38]
Chr14:88399623 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1006G>A (p.Val336Met) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000383198] Chr14:87965532 [GRCh38]
Chr14:88431876 [GRCh37]
Chr14:14q31.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.1567C>A (p.Pro523Thr) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278155]|not provided [RCV000292754] Chr14:87945656 [GRCh38]
Chr14:88412000 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.832A>C (p.Thr278Pro) single nucleotide variant not provided [RCV000398980] Chr14:87968411 [GRCh38]
Chr14:88434755 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.*1186_*1188del deletion Galactosylceramide beta-galactosidase deficiency [RCV000361752] Chr14:87933544..87933546 [GRCh38]
Chr14:88399888..88399890 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.195G>C (p.Gly65=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000400667]|not provided [RCV000513714] Chr14:87992970 [GRCh38]
Chr14:88459314 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.1418G>A (p.Arg473His) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000317512] Chr14:87947799 [GRCh38]
Chr14:88414143 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs) duplication Galactosylceramide beta-galactosidase deficiency [RCV000405383]|not provided [RCV000790755] Chr14:87988474..87988475 [GRCh38]
Chr14:88454818..88454819 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.*590T>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000388884] Chr14:87934142 [GRCh38]
Chr14:88400486 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000408648]|not provided [RCV000514309] Chr14:87976482 [GRCh38]
Chr14:88442826 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.583-4G>T single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278168] Chr14:87982247 [GRCh38]
Chr14:88448591 [GRCh37]
Chr14:14q31.3
likely benign|uncertain significance
NM_000153.4(GALC):c.821A>C (p.Glu274Ala) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001367963] Chr14:87968422 [GRCh38]
Chr14:88434766 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.516C>T (p.Ala172=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278959] Chr14:87984460 [GRCh38]
Chr14:88450804 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.233A>G (p.Tyr78Cys) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278960] Chr14:87988486 [GRCh38]
Chr14:88454830 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.65G>C (p.Gly22Ala) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278962] Chr14:87993100 [GRCh38]
Chr14:88459444 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1620= (p.Thr540=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000531711] Chr14:87945603 [GRCh38]
Chr14:88411947 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1709C>A (p.Thr570Asn) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278154] Chr14:87941520 [GRCh38]
Chr14:88407864 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1114G>A (p.Ala372Thr) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278162] Chr14:87963431 [GRCh38]
Chr14:88429775 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.318G>A (p.Gly106=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000366170] Chr14:87988154 [GRCh38]
Chr14:88454498 [GRCh37]
Chr14:14q31.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.-17G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000334323] Chr14:87993181 [GRCh38]
Chr14:88459525 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.*591G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000334375] Chr14:87934141 [GRCh38]
Chr14:88400485 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1075_1084del (p.Lys359fs) deletion not provided [RCV000521361] Chr14:87963461..87963470 [GRCh38]
Chr14:88429805..88429814 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.450A>T (p.Pro150=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000390034] Chr14:87984526 [GRCh38]
Chr14:88450870 [GRCh37]
Chr14:14q31.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001201402.2(GALC):c.117+134T>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000310669] Chr14:87993249 [GRCh38]
Chr14:88459593 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1642A>G (p.Thr548Ala) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000357084] Chr14:87945581 [GRCh38]
Chr14:88411925 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.583-11T>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000300727] Chr14:87982254 [GRCh38]
Chr14:88448598 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_001201402.2(GALC):c.117+190del deletion Galactosylceramide beta-galactosidase deficiency [RCV000313329] Chr14:87993193 [GRCh38]
Chr14:88459537 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_001201402.2(GALC):c.113C>T (p.Pro38Leu) single nucleotide variant not provided [RCV000579068] Chr14:87993387 [GRCh38]
Chr14:88459731 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1886G>T (p.Trp629Leu) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000723348] Chr14:87939930 [GRCh38]
Chr14:88406274 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.308G>T (p.Gly103Val) single nucleotide variant not provided [RCV000730077] Chr14:87988164 [GRCh38]
Chr14:88454508 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.525C>T (p.Val175=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001081964]|not provided [RCV000591824] Chr14:87984451 [GRCh38]
Chr14:88450795 [GRCh37]
Chr14:14q31.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000673406]|not provided [RCV000522459] Chr14:87988206 [GRCh38]
Chr14:88454550 [GRCh37]
Chr14:14q31.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.1632T>C (p.Asp544=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001085542]|not provided [RCV000588091] Chr14:87945591 [GRCh38]
Chr14:88411935 [GRCh37]
Chr14:14q31.3
benign|likely benign
NM_000153.4(GALC):c.1488_1489+2del deletion not provided [RCV000597723] Chr14:87947726..87947729 [GRCh38]
Chr14:88414070..88414073 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.1161+1del deletion Galactosylceramide beta-galactosidase deficiency [RCV000528992] Chr14:87963383 [GRCh38]
Chr14:88429727 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_001201402.2(GALC):c.117+146G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001120772] Chr14:87993237 [GRCh38]
Chr14:88459581 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1426dup (p.Ser476fs) duplication Galactosylceramide beta-galactosidase deficiency [RCV000409116] Chr14:87947790..87947791 [GRCh38]
Chr14:88414134..88414135 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1021del (p.Val341fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV000409313] Chr14:87965517 [GRCh38]
Chr14:88431861 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.1851del (p.Ile616_Tyr617insTer) deletion Galactosylceramide beta-galactosidase deficiency [RCV000409588] Chr14:87939965 [GRCh38]
Chr14:88406309 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.972del (p.Leu324_Met325insTer) deletion Galactosylceramide beta-galactosidase deficiency [RCV000410081] Chr14:87965566 [GRCh38]
Chr14:88431910 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.1012del (p.Glu338fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV000410105] Chr14:87965526 [GRCh38]
Chr14:88431870 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.129C>G (p.Tyr43Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000410107] Chr14:87993036 [GRCh38]
Chr14:88459380 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.328+1G>T single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000409516] Chr14:87988143 [GRCh38]
Chr14:88454487 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.1670+1G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000409892] Chr14:87945552 [GRCh38]
Chr14:88411896 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000410159]|not provided [RCV001093133] Chr14:87945637 [GRCh38]
Chr14:88411981 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000153.4(GALC):c.533G>A (p.Trp178Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000410261] Chr14:87984443 [GRCh38]
Chr14:88450787 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1837G>T (p.Gly613Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000410434] Chr14:87939979 [GRCh38]
Chr14:88406323 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.946C>T (p.Gln316Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000411117] Chr14:87965592 [GRCh38]
Chr14:88431936 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.196G>A (p.Ala66Thr) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001198292]|Leukodystrophy [RCV000415102] Chr14:87988523 [GRCh38]
Chr14:88454867 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1272_1273insTAG (p.Val425Ter) insertion Galactosylceramide beta-galactosidase deficiency [RCV000410806] Chr14:87949910..87949911 [GRCh38]
Chr14:88416254..88416255 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.190_195+9del deletion Galactosylceramide beta-galactosidase deficiency [RCV000410838] Chr14:87992961..87992975 [GRCh38]
Chr14:88459305..88459319 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_001201402.1(GALC):c.9G>T (p.Gly3=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000765183]|not provided [RCV000416202] Chr14:87993491 [GRCh38]
Chr14:88459835 [GRCh37]
Chr14:14q31.3
likely benign|uncertain significance
NM_000153.4(GALC):c.1273del (p.Val425fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV000411089] Chr14:87949910 [GRCh38]
Chr14:88416254 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.442+2T>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000411149] Chr14:87986487 [GRCh38]
Chr14:88452831 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.415A>T (p.Lys139Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000411282] Chr14:87986516 [GRCh38]
Chr14:88452860 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.467_468dup (p.Leu157fs) duplication Galactosylceramide beta-galactosidase deficiency [RCV000411607] Chr14:87984507..87984508 [GRCh38]
Chr14:88450851..88450852 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1665C>G (p.Tyr555Ter) single nucleotide variant not provided [RCV000728985] Chr14:87945558 [GRCh38]
Chr14:88411902 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000411823]|not provided [RCV000482303] Chr14:87939926 [GRCh38]
Chr14:88406270 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.1065G>A (p.Trp355Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000411899] Chr14:87963480 [GRCh38]
Chr14:88429824 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.952C>G (p.Pro318Ala) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000412229] Chr14:87965586 [GRCh38]
Chr14:88431930 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.1399dup (p.Thr467fs) duplication not provided [RCV000413526] Chr14:87947817..87947818 [GRCh38]
Chr14:88414161..88414162 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000588587]|Leukodystrophy [RCV000415223] Chr14:87968393 [GRCh38]
Chr14:88434737 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.1987T>G (p.Trp663Gly) single nucleotide variant Abnormality of brain morphology [RCV000454130]|Galactosylceramide beta-galactosidase deficiency [RCV000675127] Chr14:87934803 [GRCh38]
Chr14:88401147 [GRCh37]
Chr14:14q31.3
likely pathogenic|uncertain significance
GRCh37/hg19 14q31.3(chr14:88400251-88422569)x1 copy number loss See cases [RCV000446983] Chr14:88400251..88422569 [GRCh37]
Chr14:14q31.3
conflicting data from submitters
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_000153.4(GALC):c.60C>T (p.Ala20=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000905927]|not specified [RCV000417623] Chr14:87993105 [GRCh38]
Chr14:88459449 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.226G>A (p.Glu76Lys) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000765182]|not provided [RCV000437856] Chr14:87988493 [GRCh38]
Chr14:88454837 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1355G>A (p.Gly452Asp) single nucleotide variant not provided [RCV000437734] Chr14:87947862 [GRCh38]
Chr14:88414206 [GRCh37]
Chr14:14q31.3
uncertain significance
GRCh37/hg19 14q31.3(chr14:88400251-88426555)x1 copy number loss See cases [RCV000447701] Chr14:88400251..88426555 [GRCh37]
Chr14:14q31.3
uncertain significance
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
NM_000153.4(GALC):c.155del (p.Gly52fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV000984178]|not provided [RCV000481487] Chr14:87993010 [GRCh38]
Chr14:88459354 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.173del (p.Ile58fs) deletion not provided [RCV000482009] Chr14:87992992 [GRCh38]
Chr14:88459336 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1897dup (p.Thr633fs) duplication not provided [RCV000487204] Chr14:87939918..87939919 [GRCh38]
Chr14:88406262..88406263 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.195+1G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000666305]|not provided [RCV000498766] Chr14:87992969 [GRCh38]
Chr14:88459313 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000668258]|not provided [RCV000498864] Chr14:87947749 [GRCh38]
Chr14:88414093 [GRCh37]
Chr14:14q31.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.194G>A (p.Gly65Glu) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000502588] Chr14:87992971 [GRCh38]
Chr14:88459315 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.328+3A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001250793]|not provided [RCV000497963] Chr14:87988141 [GRCh38]
Chr14:88454485 [GRCh37]
Chr14:14q31.3
uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q31.3(chr14:88123942-88970366)x1 copy number loss See cases [RCV000511774] Chr14:88123942..88970366 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.379C>T (p.Arg127Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000590611]|not provided [RCV000493135] Chr14:87986552 [GRCh38]
Chr14:88452896 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.691G>A (p.Glu231Lys) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000669147] Chr14:87976419 [GRCh38]
Chr14:88442763 [GRCh37]
Chr14:14q31.3
uncertain significance
Single allele single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000668947] Chr14:87925152 [GRCh38]
Chr14:88391496 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_001201402.1(GALC):c.40dup (p.Leu14fs) duplication Galactosylceramide beta-galactosidase deficiency [RCV000668987] Chr14:87993459..87993460 [GRCh38]
Chr14:88459803..88459804 [GRCh37]
Chr14:14q31.3
uncertain significance
NC_000014.9:g.(?_87934712)_(87950768_?)del deletion Galactosylceramide beta-galactosidase deficiency [RCV000535669] Chr14:87934712..87950768 [GRCh38]
Chr14:88401056..88417112 [GRCh37]
Chr14:14q31.3
pathogenic
NC_000014.9:g.(?_87968315)_(87968510_?)del deletion Galactosylceramide beta-galactosidase deficiency [RCV000631447] Chr14:87968315..87968510 [GRCh38]
Chr14:88434659..88434854 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.141_143delinsG (p.Asp47fs) indel Galactosylceramide beta-galactosidase deficiency [RCV000672310] Chr14:87993022..87993024 [GRCh38]
Chr14:88459366..88459368 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000539298]|Inborn genetic diseases [RCV001266086] Chr14:87950724 [GRCh38]
Chr14:88417068 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.387C>G (p.Tyr129Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000672034] Chr14:87986544 [GRCh38]
Chr14:88452888 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.578T>C (p.Ile193Thr) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000625867] Chr14:87984398 [GRCh38]
Chr14:88450742 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.1158_1161+6del deletion Galactosylceramide beta-galactosidase deficiency [RCV001044546]|not provided [RCV000513102] Chr14:87963378..87963387 [GRCh38]
Chr14:88429722..88429731 [GRCh37]
Chr14:14q31.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.621+1G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000664820] Chr14:87982204 [GRCh38]
Chr14:88448548 [GRCh37]
Chr14:14q31.3
likely pathogenic
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33
pathogenic
NC_000014.8:g.88391483C>T single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000664464] Chr14:87925139 [GRCh38]
Chr14:88391483 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.788C>G (p.Ala263Gly) single nucleotide variant not provided [RCV000658303] Chr14:87968455 [GRCh38]
Chr14:88434799 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_001201402.1(GALC):c.117dup (p.Ala40fs) duplication Galactosylceramide beta-galactosidase deficiency [RCV000672223] Chr14:87993382..87993383 [GRCh38]
Chr14:88459726..88459727 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1862G>A (p.Arg621His) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001084937]|not provided [RCV000675253] Chr14:87939954 [GRCh38]
Chr14:88406298 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1338+23T>C single nucleotide variant not provided [RCV000675257] Chr14:87949822 [GRCh38]
Chr14:88416166 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.428A>G (p.Asn143Ser) single nucleotide variant not provided [RCV000675264] Chr14:87986503 [GRCh38]
Chr14:88452847 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.196-3del deletion not provided [RCV000675267] Chr14:87988526 [GRCh38]
Chr14:88454870 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.69G>T (p.Ser23=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001089409]|not provided [RCV000675269] Chr14:87993096 [GRCh38]
Chr14:88459440 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.49A>G (p.Met17Val) single nucleotide variant not provided [RCV000675272] Chr14:87993116 [GRCh38]
Chr14:88459460 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.621G>A (p.Lys207=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000664849]|not specified [RCV001193605] Chr14:87982205 [GRCh38]
Chr14:88448549 [GRCh37]
Chr14:14q31.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001201402.1(GALC):c.102delinsTTCC (p.Glu35_Glu36insSer) indel Galactosylceramide beta-galactosidase deficiency [RCV000671413] Chr14:87993398 [GRCh38]
Chr14:88459742 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.3G>A (p.Met1Ile) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000669874] Chr14:87993162 [GRCh38]
Chr14:88459506 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000671847] Chr14:87950736 [GRCh38]
Chr14:88417080 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000671889]|not provided [RCV000995226]|not specified [RCV001420862] Chr14:87934841 [GRCh38]
Chr14:88401185 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.827_828del (p.Asp275_Phe276insTer) deletion Galactosylceramide beta-galactosidase deficiency [RCV000665041] Chr14:87968415..87968416 [GRCh38]
Chr14:88434759..88434760 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_001201402.1(GALC):c.20del (p.Gly7fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV000670099] Chr14:87993480 [GRCh38]
Chr14:88459824 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.583A>G (p.Ile195Val) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000666816] Chr14:87982243 [GRCh38]
Chr14:88448587 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.591dup (p.Glu198Ter) duplication Galactosylceramide beta-galactosidase deficiency [RCV000668080] Chr14:87982234..87982235 [GRCh38]
Chr14:88448578..88448579 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.411_413del (p.Lys139del) deletion Galactosylceramide beta-galactosidase deficiency [RCV000671072] Chr14:87986518..87986520 [GRCh38]
Chr14:88452862..88452864 [GRCh37]
Chr14:14q31.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_000153.4(GALC):c.1835-1G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000665460] Chr14:87939982 [GRCh38]
Chr14:88406326 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.621+5G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000665486] Chr14:87982200 [GRCh38]
Chr14:88448544 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1162-5_1162-4delinsC indel Galactosylceramide beta-galactosidase deficiency [RCV000674095] Chr14:87950752..87950753 [GRCh38]
Chr14:88417096..88417097 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.555_575del (p.His186_Tyr192del) deletion Galactosylceramide beta-galactosidase deficiency [RCV000667173] Chr14:87984401..87984421 [GRCh38]
Chr14:88450745..88450765 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1A>G (p.Met1Val) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000671876] Chr14:87993164 [GRCh38]
Chr14:88459508 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.583-1G>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000672459] Chr14:87982244 [GRCh38]
Chr14:88448588 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.110_123dup (p.Ala42fs) duplication Galactosylceramide beta-galactosidase deficiency [RCV000674533] Chr14:87993041..87993042 [GRCh38]
Chr14:88459385..88459386 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.582+5G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000666914] Chr14:87984389 [GRCh38]
Chr14:88450733 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.179C>T (p.Ala60Val) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000666126] Chr14:87992986 [GRCh38]
Chr14:88459330 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1273dup (p.Val425fs) duplication Galactosylceramide beta-galactosidase deficiency [RCV000667088] Chr14:87949909..87949910 [GRCh38]
Chr14:88416253..88416254 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.2T>A (p.Met1Lys) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000669876] Chr14:87993163 [GRCh38]
Chr14:88459507 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1712dup (p.Pro571_Asp572insTer) duplication Galactosylceramide beta-galactosidase deficiency [RCV000670363] Chr14:87941516..87941517 [GRCh38]
Chr14:88407860..88407861 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1884dup (p.Trp629fs) duplication Galactosylceramide beta-galactosidase deficiency [RCV000673851] Chr14:87939931..87939932 [GRCh38]
Chr14:88406275..88406276 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.157C>T (p.Arg53Trp) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000673949] Chr14:87993008 [GRCh38]
Chr14:88459352 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.521del (p.Tyr174fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV000667306] Chr14:87984455 [GRCh38]
Chr14:88450799 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1895T>C (p.Leu632Pro) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000667307] Chr14:87939921 [GRCh38]
Chr14:88406265 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.23C>T (p.Ala8Val) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000667335] Chr14:87993142 [GRCh38]
Chr14:88459486 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1763del (p.Ile587_Leu588insTer) deletion Galactosylceramide beta-galactosidase deficiency [RCV000673963] Chr14:87941466 [GRCh38]
Chr14:88407810 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_001201402.1(GALC):c.52dup (p.Asp18fs) duplication Galactosylceramide beta-galactosidase deficiency [RCV000667812] Chr14:87993447..87993448 [GRCh38]
Chr14:88459791..88459792 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.49_50del (p.Met17fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV000667822] Chr14:87993115..87993116 [GRCh38]
Chr14:88459459..88459460 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1394C>T (p.Thr465Ile) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000680275] Chr14:87947823 [GRCh38]
Chr14:88414167 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.251A>G (p.Asp84Gly) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000666065] Chr14:87988468 [GRCh38]
Chr14:88454812 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV000671860] Chr14:87939916..87939920 [GRCh38]
Chr14:88406260..88406264 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.908+1G>T single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000665967] Chr14:87968334 [GRCh38]
Chr14:88434678 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.203C>T (p.Ser68Phe) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000668173] Chr14:87988516 [GRCh38]
Chr14:88454860 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1912-1G>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000664672] Chr14:87934879 [GRCh38]
Chr14:88401223 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000671990] Chr14:87950723 [GRCh38]
Chr14:88417067 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1978A>T (p.Lys660Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000666184] Chr14:87934812 [GRCh38]
Chr14:88401156 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1338+1G>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000665262] Chr14:87949844 [GRCh38]
Chr14:88416188 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.119G>A (p.Gly40Asp) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000674795] Chr14:87993046 [GRCh38]
Chr14:88459390 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.433dup (p.Thr145fs) duplication Galactosylceramide beta-galactosidase deficiency [RCV000668697] Chr14:87986497..87986498 [GRCh38]
Chr14:88452841..88452842 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_001201402.1(GALC):c.75C>A (p.Cys25Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000675008] Chr14:87993425 [GRCh38]
Chr14:88459769 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.884A>C (p.Asn295Thr) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000666177] Chr14:87968359 [GRCh38]
Chr14:88434703 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1519T>C (p.Phe507Leu) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000666451] Chr14:87945704 [GRCh38]
Chr14:88412048 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.927A>C (p.Leu309Phe) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000664582] Chr14:87965611 [GRCh38]
Chr14:88431955 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.486C>A (p.Asp162Glu) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000674413] Chr14:87984490 [GRCh38]
Chr14:88450834 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.7dup (p.Glu3fs) duplication Galactosylceramide beta-galactosidase deficiency [RCV000665941] Chr14:87993157..87993158 [GRCh38]
Chr14:88459501..88459502 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.129C>A (p.Tyr43Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000673403] Chr14:87993036 [GRCh38]
Chr14:88459380 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.206G>A (p.Arg69Gln) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000664786] Chr14:87988513 [GRCh38]
Chr14:88454857 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1911+1_1911+5del deletion Galactosylceramide beta-galactosidase deficiency [RCV000673412] Chr14:87939900..87939904 [GRCh38]
Chr14:88406244..88406248 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.120C>A (p.Gly40=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000674796] Chr14:87993045 [GRCh38]
Chr14:88459389 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.832A>G (p.Thr278Ala) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000666537] Chr14:87968411 [GRCh38]
Chr14:88434755 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.9del (p.Glu3fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV000673659] Chr14:87993156 [GRCh38]
Chr14:88459500 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.916G>A (p.Ala306Thr) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000666688] Chr14:87965622 [GRCh38]
Chr14:88431966 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_001201402.1(GALC):c.117+1G>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000665821] Chr14:87993382 [GRCh38]
Chr14:88459726 [GRCh37]
Chr14:14q31.3
uncertain significance
GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1 copy number loss not provided [RCV000683625] Chr14:84783137..96908198 [GRCh37]
Chr14:14q31.2-32.2
pathogenic
NM_000153.4(GALC):c.752+3A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000687124] Chr14:87976355 [GRCh38]
Chr14:88442699 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.787G>A (p.Ala263Thr) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000697346] Chr14:87968456 [GRCh38]
Chr14:88434800 [GRCh37]
Chr14:14q31.3
uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q31.3(chr14:88382306-88419358)x1 copy number loss not provided [RCV000738565] Chr14:88382306..88419358 [GRCh37]
Chr14:14q31.3
benign
GRCh37/hg19 14q31.3(chr14:88399247-88419358)x1 copy number loss not provided [RCV000738566] Chr14:88399247..88419358 [GRCh37]
Chr14:14q31.3
uncertain significance
GRCh37/hg19 14q31.3(chr14:88399247-88420282)x1 copy number loss not provided [RCV000738567] Chr14:88399247..88420282 [GRCh37]
Chr14:14q31.3
benign
GRCh37/hg19 14q31.3(chr14:88399488-88422442)x1 copy number loss not provided [RCV000738568] Chr14:88399488..88422442 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.2034C>T (p.Asn678=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000918564] Chr14:87934756 [GRCh38]
Chr14:88401100 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1434G>A (p.Pro478=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000875419] Chr14:87947783 [GRCh38]
Chr14:88414127 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1592G>C (p.Arg531Pro) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000761503] Chr14:87945631 [GRCh38]
Chr14:88411975 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.-318T>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001080822]|Inborn genetic diseases [RCV001266085]|not provided [RCV000761889] Chr14:87993482 [GRCh38]
Chr14:88459826 [GRCh37]
Chr14:14q31.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.398TGA[1] (p.Met134del) microsatellite Galactosylceramide beta-galactosidase deficiency [RCV001065790] Chr14:87986528..87986530 [GRCh38]
Chr14:88452872..88452874 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.2037_2040del (p.Phe679fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV001044217] Chr14:87934750..87934753 [GRCh38]
Chr14:88401094..88401097 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.187_188insAGC (p.Gly63delinsGluArg) insertion Galactosylceramide beta-galactosidase deficiency [RCV001030029] Chr14:87992977..87992978 [GRCh38]
Chr14:88459321..88459322 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.*877T>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001115579] Chr14:87933855 [GRCh38]
Chr14:88400199 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1162-5_1162-4del deletion Galactosylceramide beta-galactosidase deficiency [RCV000929208] Chr14:87950752..87950753 [GRCh38]
Chr14:88417096..88417097 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.15A>G (p.Leu5=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000971033] Chr14:87993150 [GRCh38]
Chr14:88459494 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.543C>T (p.Gly181=) single nucleotide variant not provided [RCV000924102] Chr14:87984433 [GRCh38]
Chr14:88450777 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1332T>C (p.Ser444=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000982354] Chr14:87949851 [GRCh38]
Chr14:88416195 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1252-8C>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000975618] Chr14:87949939 [GRCh38]
Chr14:88416283 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1110C>T (p.Tyr370=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001275951]|not provided [RCV000924364] Chr14:87963435 [GRCh38]
Chr14:88429779 [GRCh37]
Chr14:14q31.3
likely benign|uncertain significance
NM_000153.4(GALC):c.114G>T (p.Ala38=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000904668] Chr14:87993051 [GRCh38]
Chr14:88459395 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1587G>A (p.Thr529=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000976705] Chr14:87945636 [GRCh38]
Chr14:88411980 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.387C>T (p.Tyr129=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001428361]|not provided [RCV000976824] Chr14:87986544 [GRCh38]
Chr14:88452888 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.714C>T (p.Leu238=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000944474] Chr14:87976396 [GRCh38]
Chr14:88442740 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.379C>A (p.Arg127=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000983603] Chr14:87986552 [GRCh38]
Chr14:88452896 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1489+3G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000884805] Chr14:87947725 [GRCh38]
Chr14:88414069 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.860G>A (p.Cys287Tyr) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001061371] Chr14:87968383 [GRCh38]
Chr14:88434727 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1997T>C (p.Ile666Thr) single nucleotide variant not provided [RCV000995225] Chr14:87934793 [GRCh38]
Chr14:88401137 [GRCh37]
Chr14:14q31.3
uncertain significance
NC_000014.9:g.(?_87965495)_(87968500_?)dup duplication Galactosylceramide beta-galactosidase deficiency [RCV001033713] Chr14:88431839..88434844 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1671-1G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000779148] Chr14:87941559 [GRCh38]
Chr14:88407903 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.-80_-75delATCAGC deletion Galactosylceramide beta-galactosidase deficiency [RCV001272255]|not specified [RCV000780272] Chr14:87993239..87993244 [GRCh38]
Chr14:88459583..88459588 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.2035T>C (p.Phe679Leu) single nucleotide variant not specified [RCV000781392] Chr14:87934755 [GRCh38]
Chr14:88401099 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.136G>T (p.Asp46Tyr) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000781395] Chr14:87993029 [GRCh38]
Chr14:88459373 [GRCh37]
Chr14:14q31.3
pathogenic|conflicting interpretations of pathogenicity
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter) duplication Galactosylceramide beta-galactosidase deficiency [RCV000781391] Chr14:87941414..87941415 [GRCh38]
Chr14:88407758..88407759 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.1162-4T>A single nucleotide variant not specified [RCV000781394] Chr14:87950752 [GRCh38]
Chr14:88417096 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1752A>G (p.Lys584=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000929554] Chr14:87941477 [GRCh38]
Chr14:88407821 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.753-5T>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000937968] Chr14:87968495 [GRCh38]
Chr14:88434839 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1047G>A (p.Gln349=) single nucleotide variant not provided [RCV000918579] Chr14:87963498 [GRCh38]
Chr14:88429842 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1575G>A (p.Glu525=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000940729] Chr14:87945648 [GRCh38]
Chr14:88411992 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.537T>C (p.Ile179=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000922139] Chr14:87984439 [GRCh38]
Chr14:88450783 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.753-5del deletion Galactosylceramide beta-galactosidase deficiency [RCV001428227]|not provided [RCV000959737] Chr14:87968495 [GRCh38]
Chr14:88434839 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.189C>T (p.Gly63=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000930092] Chr14:87992976 [GRCh38]
Chr14:88459320 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1629C>T (p.Ala543=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000873693] Chr14:87945594 [GRCh38]
Chr14:88411938 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.144C>T (p.Ser48=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000981417] Chr14:87993021 [GRCh38]
Chr14:88459365 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.99G>C (p.Leu33=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001412260]|not provided [RCV000976570] Chr14:87993066 [GRCh38]
Chr14:88459410 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.196-201del deletion not provided [RCV000841793] Chr14:87988724 [GRCh38]
Chr14:88455068 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.752+199A>T single nucleotide variant not provided [RCV000840049] Chr14:87976159 [GRCh38]
Chr14:88442503 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1162-197T>C single nucleotide variant not provided [RCV000840051] Chr14:87950945 [GRCh38]
Chr14:88417289 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1162-152G>A single nucleotide variant not provided [RCV000840053] Chr14:87950900 [GRCh38]
Chr14:88417244 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1252-166G>A single nucleotide variant not provided [RCV000840054] Chr14:87950097 [GRCh38]
Chr14:88416441 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1252-115T>C single nucleotide variant not provided [RCV000840055] Chr14:87950046 [GRCh38]
Chr14:88416390 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1338+159C>T single nucleotide variant not provided [RCV000840056] Chr14:87949686 [GRCh38]
Chr14:88416030 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1490-233C>T single nucleotide variant not provided [RCV000840057] Chr14:87945966 [GRCh38]
Chr14:88412310 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1670+94A>G single nucleotide variant not provided [RCV000840058] Chr14:87945459 [GRCh38]
Chr14:88411803 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1670+204T>C single nucleotide variant not provided [RCV000840059] Chr14:87945349 [GRCh38]
Chr14:88411693 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1911+122C>G single nucleotide variant not provided [RCV000840061] Chr14:87939783 [GRCh38]
Chr14:88406127 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1911+129G>A single nucleotide variant not provided [RCV000840062] Chr14:87939776 [GRCh38]
Chr14:88406120 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1912-220T>G single nucleotide variant not provided [RCV000840064] Chr14:87935098 [GRCh38]
Chr14:88401442 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1912-170C>T single nucleotide variant not provided [RCV000840065] Chr14:87935048 [GRCh38]
Chr14:88401392 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.908+270T>A single nucleotide variant not provided [RCV000842801] Chr14:87968065 [GRCh38]
Chr14:88434409 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1671-319A>G single nucleotide variant not provided [RCV000842802] Chr14:87941877 [GRCh38]
Chr14:88408221 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.94C>A (p.Leu32Met) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000814874] Chr14:87993071 [GRCh38]
Chr14:88459415 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.65_74del (p.Gly22fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV000989252] Chr14:87993091..87993100 [GRCh38]
Chr14:88459435..88459444 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.443-2A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000802627] Chr14:87984535 [GRCh38]
Chr14:88450879 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.235C>T (p.Arg79Cys) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000811717] Chr14:87988484 [GRCh38]
Chr14:88454828 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.622-137CAAA[4] microsatellite not provided [RCV000841796] Chr14:87976606..87976609 [GRCh38]
Chr14:88442950..88442953 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1992T>C (p.Ala664=) single nucleotide variant not provided [RCV000976549] Chr14:87934798 [GRCh38]
Chr14:88401142 [GRCh37]
Chr14:14q31.3
likely benign
GRCh37/hg19 14q31.3(chr14:88399622-88422569)x1 copy number loss not provided [RCV000849498] Chr14:88399622..88422569 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.383G>C (p.Gly128Ala) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000811095] Chr14:87986548 [GRCh38]
Chr14:88452892 [GRCh37]
Chr14:14q31.3
uncertain significance
GRCh37/hg19 14q31.3(chr14:88398407-88422569)x1 copy number loss not provided [RCV000848906] Chr14:88398407..88422569 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.1161+248del deletion not provided [RCV000839216] Chr14:87963136 [GRCh38]
Chr14:88429480 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001117091] Chr14:87963431 [GRCh38]
Chr14:88429775 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.136G>C (p.Asp46His) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001115752] Chr14:87993029 [GRCh38]
Chr14:88459373 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.453G>A (p.Trp151Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000795746] Chr14:87984523 [GRCh38]
Chr14:88450867 [GRCh37]
Chr14:14q31.3
pathogenic
NC_000014.9:g.(?_87934712)_(87949951_?)del deletion Galactosylceramide beta-galactosidase deficiency [RCV000811367] Chr14:87934712..87949951 [GRCh38]
Chr14:88401056..88416295 [GRCh37]
Chr14:14q31.3
likely pathogenic
NC_000014.9:g.(?_87949835)_(87949941_?)del deletion Galactosylceramide beta-galactosidase deficiency [RCV000821927] Chr14:87949835..87949941 [GRCh38]
Chr14:88416179..88416285 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1443A>G (p.Pro481=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001115669] Chr14:87947774 [GRCh38]
Chr14:88414118 [GRCh37]
Chr14:14q31.3
uncertain significance
NC_000014.9:g.(?_87963374)_(87963521_?)dup duplication Galactosylceramide beta-galactosidase deficiency [RCV001032332] Chr14:88429718..88429865 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.752+8A>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001118733] Chr14:87976350 [GRCh38]
Chr14:88442694 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1268T>C (p.Leu423Pro) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000785935] Chr14:87949915 [GRCh38]
Chr14:88416259 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.560A>T (p.Asp187Val) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000796371] Chr14:87984416 [GRCh38]
Chr14:88450760 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.40G>A (p.Ala14Thr) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001118812] Chr14:87993125 [GRCh38]
Chr14:88459469 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.82G>A (p.Ala28Thr) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001117185] Chr14:87993083 [GRCh38]
Chr14:88459427 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1004A>G (p.Tyr335Cys) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000806470] Chr14:87965534 [GRCh38]
Chr14:88431878 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.1453C>T (p.Pro485Ser) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000821560] Chr14:87947764 [GRCh38]
Chr14:88414108 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1191A>G (p.Pro397=) single nucleotide variant not provided [RCV000871119] Chr14:87950719 [GRCh38]
Chr14:88417063 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.583-288G>A single nucleotide variant not provided [RCV000831245] Chr14:87982531 [GRCh38]
Chr14:88448875 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.622-284C>T single nucleotide variant not provided [RCV000831246] Chr14:87976772 [GRCh38]
Chr14:88443116 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.622-273G>A single nucleotide variant not provided [RCV000831247] Chr14:87976761 [GRCh38]
Chr14:88443105 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1034-314A>G single nucleotide variant not provided [RCV000831248] Chr14:87963825 [GRCh38]
Chr14:88430169 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1034-270A>G single nucleotide variant not provided [RCV000831249] Chr14:87963781 [GRCh38]
Chr14:88430125 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1161+301C>T single nucleotide variant not provided [RCV000831250] Chr14:87963083 [GRCh38]
Chr14:88429427 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.247T>C (p.Leu83=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000978701] Chr14:87988472 [GRCh38]
Chr14:88454816 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.530C>A (p.Thr177Asn) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000872010] Chr14:87984446 [GRCh38]
Chr14:88450790 [GRCh37]
Chr14:14q31.3
likely benign
NM_001201402.2(GALC):c.117+71T>C single nucleotide variant not provided [RCV000841776] Chr14:87993312 [GRCh38]
Chr14:88459656 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.195+164G>A single nucleotide variant not provided [RCV000841792] Chr14:87992806 [GRCh38]
Chr14:88459150 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.622-175C>T single nucleotide variant not provided [RCV000841794] Chr14:87976663 [GRCh38]
Chr14:88443007 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.622-162del deletion not provided [RCV000841795] Chr14:87976650 [GRCh38]
Chr14:88442994 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1033+145A>G single nucleotide variant not provided [RCV000841797] Chr14:87965360 [GRCh38]
Chr14:88431704 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.1034-125G>C single nucleotide variant not provided [RCV000841798] Chr14:87963636 [GRCh38]
Chr14:88429980 [GRCh37]
Chr14:14q31.3
benign
NC_000014.9:g.(?_87963374)_(87963521_?)del deletion Galactosylceramide beta-galactosidase deficiency [RCV001031789] Chr14:88429718..88429865 [GRCh37]
Chr14:14q31.3
pathogenic
NC_000014.9:g.(?_87992960)_(87993627_?)del deletion Galactosylceramide beta-galactosidase deficiency [RCV001032280] Chr14:88459304..88459971 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.*455A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001117014] Chr14:87934277 [GRCh38]
Chr14:88400621 [GRCh37]
Chr14:14q31.3
uncertain significance
GRCh37/hg19 14q31.3(chr14:88400251-88422569)x1 copy number loss not provided [RCV000846474] Chr14:88400251..88422569 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.*1625A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001120184] Chr14:87933107 [GRCh38]
Chr14:88399451 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.*999T>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001120485] Chr14:87933733 [GRCh38]
Chr14:88400077 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.*389G>T single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001118640] Chr14:87934343 [GRCh38]
Chr14:88400687 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.313G>A (p.Asp105Asn) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001115751] Chr14:87988159 [GRCh38]
Chr14:88454503 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.462T>C (p.Pro154=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000976366] Chr14:87984514 [GRCh38]
Chr14:88450858 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.868C>T (p.Arg290Cys) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000991305] Chr14:87968375 [GRCh38]
Chr14:88434719 [GRCh37]
Chr14:14q31.3
likely pathogenic
GRCh37/hg19 14q31.3(chr14:88452876-88662600)x3 copy number gain not provided [RCV001006650] Chr14:88452876..88662600 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.909-4T>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000936745] Chr14:87965633 [GRCh38]
Chr14:88431977 [GRCh37]
Chr14:14q31.3
likely benign
GRCh37/hg19 14q31.3(chr14:88399622-88422569)x1 copy number loss not provided [RCV000850010] Chr14:88399622..88422569 [GRCh37]
Chr14:14q31.3
uncertain significance
GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1 copy number loss not provided [RCV000847566] Chr14:77274990..89803137 [GRCh37]
Chr14:14q24.3-32.11
pathogenic
GRCh37/hg19 14q31.3(chr14:88398357-88422853)x1 copy number loss not provided [RCV000849071] Chr14:88398357..88422853 [GRCh37]
Chr14:14q31.3
pathogenic
GRCh37/hg19 14q31.3(chr14:88398357-88422853)x1 copy number loss not provided [RCV000849072] Chr14:88398357..88422853 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.1690T>G (p.Cys564Gly) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000989250] Chr14:87941539 [GRCh38]
Chr14:88407883 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.884A>T (p.Asn295Ile) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000989251] Chr14:87968359 [GRCh38]
Chr14:88434703 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.196-12dup duplication Intellectual disability [RCV001251990] Chr14:87988525..87988526 [GRCh38]
Chr14:88454869..88454870 [GRCh37]
Chr14:14q31.3
likely benign
GRCh37/hg19 14q31.3(chr14:88391502-88423172) copy number gain Galactosylceramide beta-galactosidase deficiency [RCV001030747] Chr14:88391502..88423172 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.830G>A (p.Ser277Asn) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001250794]   likely pathogenic|uncertain significance
NM_000153.4(GALC):c.581G>C (p.Gly194Ala) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001248182] Chr14:87984395 [GRCh38]
Chr14:88450739 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.674C>A (p.Ala225Glu) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001237593] Chr14:87976436 [GRCh38]
Chr14:88442780 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1572C>T (p.Gly524=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001220677] Chr14:87945651 [GRCh38]
Chr14:88411995 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.863G>A (p.Trp288Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001209816] Chr14:87968380 [GRCh38]
Chr14:88434724 [GRCh37]
Chr14:14q31.3
pathogenic
GRCh37/hg19 14q31.3(chr14:88400285-88422569)x1 copy number loss not provided [RCV000846438] Chr14:88400285..88422569 [GRCh37]
Chr14:14q31.3
pathogenic
GRCh37/hg19 14q31.3(chr14:88398406-88422853)x1 copy number loss not provided [RCV000847149] Chr14:88398406..88422853 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.*994C>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001115578] Chr14:87933738 [GRCh38]
Chr14:88400082 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1619C>T (p.Thr540Ile) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001115668] Chr14:87945604 [GRCh38]
Chr14:88411948 [GRCh37]
Chr14:14q31.3
uncertain significance
GRCh37/hg19 14q31.3(chr14:88400251-88422569)x1 copy number loss not provided [RCV000845846] Chr14:88400251..88422569 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.1887del (p.Trp629fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV001212476] Chr14:87939929 [GRCh38]
Chr14:88406273 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.583-8T>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000983620] Chr14:87982251 [GRCh38]
Chr14:88448595 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1272G>A (p.Gln424=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000873073] Chr14:87949911 [GRCh38]
Chr14:88416255 [GRCh37]
Chr14:14q31.3
likely benign|conflicting interpretations of pathogenicity
NM_000153.4(GALC):c.678T>C (p.Ser226=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278166]|not provided [RCV000930619] Chr14:87976432 [GRCh38]
Chr14:88442776 [GRCh37]
Chr14:14q31.3
likely benign|uncertain significance
NM_000153.4(GALC):c.978G>A (p.Thr326=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000932768] Chr14:87965560 [GRCh38]
Chr14:88431904 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.27C>T (p.Ser9=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000931326] Chr14:87993138 [GRCh38]
Chr14:88459482 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1899G>A (p.Thr633=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000932897] Chr14:87939917 [GRCh38]
Chr14:88406261 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.357T>C (p.Tyr119=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001431494]|not provided [RCV000932166] Chr14:87986574 [GRCh38]
Chr14:88452918 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1252-10T>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000944273] Chr14:87949941 [GRCh38]
Chr14:88416285 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.442+1G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001199004] Chr14:87986488 [GRCh38]
Chr14:88452832 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.210dup (p.Leu71fs) duplication Galactosylceramide beta-galactosidase deficiency [RCV001219037] Chr14:87988508..87988509 [GRCh38]
Chr14:88454852..88454853 [GRCh37]
Chr14:14q31.3
pathogenic
GRCh37/hg19 14q31.3(chr14:88399828-88422607) copy number loss Galactosylceramide beta-galactosidase deficiency [RCV001195146] Chr14:88399828..88422607 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.192C>T (p.Gly64=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001244886] Chr14:87992973 [GRCh38]
Chr14:88459317 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.674dup (p.Ser226fs) duplication Galactosylceramide beta-galactosidase deficiency [RCV001205721] Chr14:87976435..87976436 [GRCh38]
Chr14:88442779..88442780 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.434C>T (p.Thr145Ile) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001120669] Chr14:87986497 [GRCh38]
Chr14:88452841 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.264+1G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001051364] Chr14:87988454 [GRCh38]
Chr14:88454798 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.*499T>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001117012] Chr14:87934233 [GRCh38]
Chr14:88400577 [GRCh37]
Chr14:14q31.3
uncertain significance
NC_000014.9:g.(?_87963364)_(87993519_?)dup duplication Galactosylceramide beta-galactosidase deficiency [RCV001033558] Chr14:88429708..88459863 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.459C>T (p.Phe153=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000890330] Chr14:87984517 [GRCh38]
Chr14:88450861 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.804G>A (p.Lys268=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000934429] Chr14:87968439 [GRCh38]
Chr14:88434783 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.120C>T (p.Gly40=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV000957480] Chr14:87993045 [GRCh38]
Chr14:88459389 [GRCh37]
Chr14:14q31.3
likely benign|conflicting interpretations of pathogenicity
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001090091] Chr14:87934848 [GRCh38]
Chr14:88401192 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.165C>G (p.Phe55Leu) single nucleotide variant Intellectual disability [RCV001251991] Chr14:87993000 [GRCh38]
Chr14:88459344 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.943del (p.Glu315fs) deletion not provided [RCV001093134] Chr14:87965595 [GRCh38]
Chr14:88431939 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.391T>C (p.Trp131Arg) single nucleotide variant not provided [RCV001093135] Chr14:87986540 [GRCh38]
Chr14:88452884 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.*375A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001118641] Chr14:87934357 [GRCh38]
Chr14:88400701 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.708C>T (p.Ser236=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001118734] Chr14:87976402 [GRCh38]
Chr14:88442746 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.3G>T (p.Met1Ile) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001118813] Chr14:87993162 [GRCh38]
Chr14:88459506 [GRCh37]
Chr14:14q31.3
uncertain significance
NC_000014.9:g.(?_87934720)_(87950758_?)del deletion Galactosylceramide beta-galactosidase deficiency [RCV001031123] Chr14:88401064..88417102 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.*1584G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001120484] Chr14:87933148 [GRCh38]
Chr14:88399492 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.64G>C (p.Gly22Arg) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001117186] Chr14:87993101 [GRCh38]
Chr14:88459445 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.*1598G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001120185] Chr14:87933134 [GRCh38]
Chr14:88399478 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.442+4A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001120668] Chr14:87986485 [GRCh38]
Chr14:88452829 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.*405A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001118639] Chr14:87934327 [GRCh38]
Chr14:88400671 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.*366A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001118642] Chr14:87934366 [GRCh38]
Chr14:88400710 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.*363A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001118643] Chr14:87934369 [GRCh38]
Chr14:88400713 [GRCh37]
Chr14:14q31.3
uncertain significance
GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1 copy number loss Deletion syndrome [RCV001004048] Chr14:84783523..96907490 [GRCh37]
Chr14:14q31.2-32.2
pathogenic
NM_000153.4(GALC):c.1335_1336del (p.Trp446fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV001231281] Chr14:87949847..87949848 [GRCh38]
Chr14:88416191..88416192 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.443-1G>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001070327] Chr14:87984534 [GRCh38]
Chr14:88450878 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.37C>G (p.Arg13Gly) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001053831] Chr14:87993128 [GRCh38]
Chr14:88459472 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.869G>A (p.Arg290His) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001030028] Chr14:87968374 [GRCh38]
Chr14:88434718 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1898C>T (p.Thr633Met) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001064405] Chr14:87939918 [GRCh38]
Chr14:88406262 [GRCh37]
Chr14:14q31.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000153.4(GALC):c.673G>A (p.Ala225Thr) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001195147] Chr14:87976437 [GRCh38]
Chr14:88442781 [GRCh37]
Chr14:14q31.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_000153.4(GALC):c.1441C>T (p.Pro481Ser) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001248052] Chr14:87947776 [GRCh38]
Chr14:88414120 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1184T>C (p.Ile395Thr) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001248417] Chr14:87950726 [GRCh38]
Chr14:88417070 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1793G>A (p.Trp598Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001038602] Chr14:87941436 [GRCh38]
Chr14:88407780 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.2002A>C (p.Thr668Pro) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001062997] Chr14:87934788 [GRCh38]
Chr14:88401132 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.*486C>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001117013] Chr14:87934246 [GRCh38]
Chr14:88400590 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.380G>T (p.Arg127Leu) single nucleotide variant Intellectual disability [RCV001251989] Chr14:87986551 [GRCh38]
Chr14:88452895 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1185dup (p.Arg396fs) duplication Galactosylceramide beta-galactosidase deficiency [RCV001253404] Chr14:87950724..87950725 [GRCh38]
Chr14:88417068..88417069 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.597G>T (p.Arg199Ser) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278167] Chr14:87982229 [GRCh38]
Chr14:88448573 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.764C>G (p.Pro255Arg) single nucleotide variant not provided [RCV001269896] Chr14:87968479 [GRCh38]
Chr14:88434823 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1107C>G (p.Ser369Arg) single nucleotide variant not provided [RCV001269902] Chr14:87963438 [GRCh38]
Chr14:88429782 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.1213_1214insTA (p.Ser405fs) insertion Galactosylceramide beta-galactosidase deficiency [RCV001260244] Chr14:87950696..87950697 [GRCh38]
Chr14:88417040..88417041 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.293dup (p.Leu98fs) duplication not provided [RCV001270007] Chr14:87988178..87988179 [GRCh38]
Chr14:88454522..88454523 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.1727T>C (p.Val576Ala) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001329063] Chr14:87941502 [GRCh38]
Chr14:88407846 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1753G>T (p.Gly585Cys) single nucleotide variant not provided [RCV001281624] Chr14:87941476 [GRCh38]
Chr14:88407820 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.789A>G (p.Ala263=) single nucleotide variant not provided [RCV001311370] Chr14:87968454 [GRCh38]
Chr14:88434798 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1634C>A (p.Ala545Glu) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001326439] Chr14:87945589 [GRCh38]
Chr14:88411933 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1893A>G (p.Thr631=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001392840] Chr14:87939923 [GRCh38]
Chr14:88406267 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1677T>C (p.Asn559=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001433399] Chr14:87941552 [GRCh38]
Chr14:88407896 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1920_1921inv (p.Thr641Ala) inversion Galactosylceramide beta-galactosidase deficiency [RCV001422616] Chr14:87934869..87934870 [GRCh38]
Chr14:88401213..88401214 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.798T>C (p.Thr266=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001396538] Chr14:87968445 [GRCh38]
Chr14:88434789 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.982C>T (p.Gln328Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001390629]|not provided [RCV001269502] Chr14:87965556 [GRCh38]
Chr14:88431900 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.1758T>C (p.Gly586=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278153] Chr14:87941471 [GRCh38]
Chr14:88407815 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1161+9T>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278161] Chr14:87963375 [GRCh38]
Chr14:88429719 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.909-3del deletion Galactosylceramide beta-galactosidase deficiency [RCV001278164] Chr14:87965632 [GRCh38]
Chr14:88431976 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.287A>G (p.His96Arg) single nucleotide variant not provided [RCV001357746] Chr14:87988185 [GRCh38]
Chr14:88454529 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.65G>A (p.Gly22Asp) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278963] Chr14:87993100 [GRCh38]
Chr14:88459444 [GRCh37]
Chr14:14q31.3
likely benign|uncertain significance
NM_000153.4(GALC):c.-66G>T single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278965] Chr14:87993230 [GRCh38]
Chr14:88459574 [GRCh37]
Chr14:14q31.3
benign
NM_000153.4(GALC):c.181_182insAG (p.Val61fs) insertion Galactosylceramide beta-galactosidase deficiency [RCV001382729] Chr14:87992983..87992984 [GRCh38]
Chr14:88459327..88459328 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.609C>G (p.Ala203=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001414278] Chr14:87982217 [GRCh38]
Chr14:88448561 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1251+7A>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001423040] Chr14:87950652 [GRCh38]
Chr14:88416996 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1162-10T>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001391931] Chr14:87950758 [GRCh38]
Chr14:88417102 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1305A>G (p.Glu435=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001433962] Chr14:87949878 [GRCh38]
Chr14:88416222 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.432_433dup (p.Thr145fs) duplication Galactosylceramide beta-galactosidase deficiency [RCV001383047] Chr14:87986497..87986498 [GRCh38]
Chr14:88452841..88452842 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.302_308dup (p.Gly104fs) duplication Galactosylceramide beta-galactosidase deficiency [RCV001383048] Chr14:87988163..87988164 [GRCh38]
Chr14:88454507..88454508 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.176del (p.Gly59fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV001383049] Chr14:87992989 [GRCh38]
Chr14:88459333 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.949T>A (p.Leu317Met) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001308718] Chr14:87965589 [GRCh38]
Chr14:88431933 [GRCh37]
Chr14:14q31.3
uncertain significance
NC_000014.8:g.(?_88416169)_(88459863_?)dup duplication Galactosylceramide beta-galactosidase deficiency [RCV001373886] Chr14:88416169..88459863 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1083dup (p.Gly362fs) duplication Galactosylceramide beta-galactosidase deficiency [RCV001382298]|not provided [RCV001269591] Chr14:87963461..87963462 [GRCh38]
Chr14:88429805..88429806 [GRCh37]
Chr14:14q31.3
pathogenic|likely pathogenic
NM_000153.4(GALC):c.1490-8C>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278157] Chr14:87945741 [GRCh38]
Chr14:88412085 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1042A>T (p.Thr348Ser) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278163] Chr14:87963503 [GRCh38]
Chr14:88429847 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.680A>G (p.Asp227Gly) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278165] Chr14:87976430 [GRCh38]
Chr14:88442774 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.-63C>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278964] Chr14:87993227 [GRCh38]
Chr14:88459571 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.750A>G (p.Ile250Met) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001361588] Chr14:87976360 [GRCh38]
Chr14:88442704 [GRCh37]
Chr14:14q31.3
uncertain significance
Single allele deletion Intellectual disability [RCV001293383] Chr14:88399358..88417093 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.1760T>C (p.Ile587Thr) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001335146] Chr14:87941469 [GRCh38]
Chr14:88407813 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1467C>T (p.Thr489=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001421719] Chr14:87947750 [GRCh38]
Chr14:88414094 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1934T>G (p.Leu645Arg) single nucleotide variant not provided [RCV001269990] Chr14:87934856 [GRCh38]
Chr14:88401200 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.151C>T (p.Leu51=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001412808] Chr14:87993014 [GRCh38]
Chr14:88459358 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1392C>A (p.Phe464Leu) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278159] Chr14:87947825 [GRCh38]
Chr14:88414169 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1490-7T>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278156] Chr14:87945740 [GRCh38]
Chr14:88412084 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1436T>C (p.Leu479Pro) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278158] Chr14:87947781 [GRCh38]
Chr14:88414125 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.1351G>T (p.Asp451Tyr) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278160] Chr14:87947866 [GRCh38]
Chr14:88414210 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.108G>T (p.Leu36=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001422055] Chr14:87993057 [GRCh38]
Chr14:88459401 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1695T>C (p.Asp565=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001412638] Chr14:87941534 [GRCh38]
Chr14:88407878 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.108G>A (p.Leu36=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001278961] Chr14:87993057 [GRCh38]
Chr14:88459401 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.723C>T (p.Ala241=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001422097] Chr14:87976387 [GRCh38]
Chr14:88442731 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.915C>T (p.Ile305=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001412901] Chr14:87965623 [GRCh38]
Chr14:88431967 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.201C>G (p.Thr67=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001412568] Chr14:87988518 [GRCh38]
Chr14:88454862 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.360A>G (p.Ala120=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001412379] Chr14:87986571 [GRCh38]
Chr14:88452915 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1252-4A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001413082] Chr14:87949935 [GRCh38]
Chr14:88416279 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.839A>G (p.Asn280Ser) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001329064] Chr14:87968404 [GRCh38]
Chr14:88434748 [GRCh37]
Chr14:14q31.3
uncertain significance
NM_000153.4(GALC):c.582+7A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001396086] Chr14:87984387 [GRCh38]
Chr14:88450731 [GRCh37]
Chr14:14q31.3
likely benign
NC_000014.8:g.(?_88431972_88439445del deletion Galactosylceramide beta-galactosidase deficiency [RCV001382172]   pathogenic
NM_000153.4(GALC):c.945A>G (p.Glu315=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001427670] Chr14:87965593 [GRCh38]
Chr14:88431937 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.2056T>C (p.Ter686Gln) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001377987] Chr14:87934734 [GRCh38]
Chr14:88401078 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.582+1G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001378267] Chr14:87984393 [GRCh38]
Chr14:88450737 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.752+10G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001439329] Chr14:87976348 [GRCh38]
Chr14:88442692 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1506T>C (p.Ser502=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001415532] Chr14:87945717 [GRCh38]
Chr14:88412061 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1131A>G (p.Leu377=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001397998] Chr14:87963414 [GRCh38]
Chr14:88429758 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1252-7T>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001393760] Chr14:87949938 [GRCh38]
Chr14:88416282 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.222C>T (p.Tyr74=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001401761] Chr14:87988497 [GRCh38]
Chr14:88454841 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1762_1763del (p.Leu588fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV001384547] Chr14:87941466..87941467 [GRCh38]
Chr14:88407810..88407811 [GRCh37]
Chr14:14q31.3
pathogenic
NC_000014.8:g.(?_88391504_88423173del deletion Galactosylceramide beta-galactosidase deficiency [RCV001382170]   pathogenic
NC_000014.8:g.(?_88391504_88423174del deletion Galactosylceramide beta-galactosidase deficiency [RCV001382171]   pathogenic
NM_000153.4(GALC):c.48T>C (p.Ala16=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001443320] Chr14:87993117 [GRCh38]
Chr14:88459461 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1890T>C (p.Tyr630=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001409403] Chr14:87939926 [GRCh38]
Chr14:88406270 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.204C>T (p.Ser68=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001411919] Chr14:87988515 [GRCh38]
Chr14:88454859 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.465A>G (p.Gly155=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001446274] Chr14:87984511 [GRCh38]
Chr14:88450855 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.600A>G (p.Ser200=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001441435] Chr14:87982226 [GRCh38]
Chr14:88448570 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1411_1432del (p.Thr471fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV001387420] Chr14:87947785..87947806 [GRCh38]
Chr14:88414129..88414150 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.1034-4A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001439847] Chr14:87963515 [GRCh38]
Chr14:88429859 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.2022A>G (p.Ala674=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001430578] Chr14:87934768 [GRCh38]
Chr14:88401112 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.141C>T (p.Asp47=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001407410] Chr14:87993024 [GRCh38]
Chr14:88459368 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1086C>G (p.Gly362=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001417328] Chr14:87963459 [GRCh38]
Chr14:88429803 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.72G>C (p.Ala24=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001437564] Chr14:87993093 [GRCh38]
Chr14:88459437 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1911+9T>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001418220] Chr14:87939896 [GRCh38]
Chr14:88406240 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.426C>T (p.Pro142=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001418533] Chr14:87986505 [GRCh38]
Chr14:88452849 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1987del (p.Trp663fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV001377004] Chr14:87934803 [GRCh38]
Chr14:88401147 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1912-7A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001429268] Chr14:87934885 [GRCh38]
Chr14:88401229 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1490-6G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001410702] Chr14:87945739 [GRCh38]
Chr14:88412083 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1746A>G (p.Val582=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001447432] Chr14:87941483 [GRCh38]
Chr14:88407827 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.675A>G (p.Ala225=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001408095] Chr14:87976435 [GRCh38]
Chr14:88442779 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.168C>T (p.Asp56=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001447321] Chr14:87992997 [GRCh38]
Chr14:88459341 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.645T>C (p.Tyr215=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001410953] Chr14:87976465 [GRCh38]
Chr14:88442809 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.37C>T (p.Arg13Ter) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001385409] Chr14:87993128 [GRCh38]
Chr14:88459472 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.1791C>T (p.Phe597=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001434966] Chr14:87941438 [GRCh38]
Chr14:88407782 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1339-10T>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001408747] Chr14:87947888 [GRCh38]
Chr14:88414232 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1806T>C (p.Asn602=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001408786] Chr14:87941423 [GRCh38]
Chr14:88407767 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.753-7T>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001419496] Chr14:87968497 [GRCh38]
Chr14:88434841 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.933T>C (p.Ala311=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001419632] Chr14:87965605 [GRCh38]
Chr14:88431949 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.739G>T (p.Val247Phe) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001391225] Chr14:87976371 [GRCh38]
Chr14:88442715 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.69G>C (p.Ser23=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001432173] Chr14:87993096 [GRCh38]
Chr14:88459440 [GRCh37]
Chr14:14q31.3
likely benign
NC_000014.8:g.(?_88391503_88423172del deletion Galactosylceramide beta-galactosidase deficiency [RCV001387094]   pathogenic
NM_000153.4(GALC):c.216A>G (p.Val72=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001445998] Chr14:87988503 [GRCh38]
Chr14:88454847 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.2036_2040del (p.Phe679fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV001378266] Chr14:87934750..87934754 [GRCh38]
Chr14:88401094..88401098 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.57G>T (p.Ala19=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001439232] Chr14:87993108 [GRCh38]
Chr14:88459452 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1252-2A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001379734] Chr14:87949933 [GRCh38]
Chr14:88416277 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.332del (p.Gly111fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV001387975] Chr14:87986599 [GRCh38]
Chr14:88452943 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.1590A>T (p.Leu530=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001399605] Chr14:87945633 [GRCh38]
Chr14:88411977 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.686_694del (p.Leu229_Ser232delinsPro) deletion Galactosylceramide beta-galactosidase deficiency [RCV001390645] Chr14:87976416..87976424 [GRCh38]
Chr14:88442760..88442768 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.1335A>G (p.Leu445=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001442743] Chr14:87949848 [GRCh38]
Chr14:88416192 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.498del (p.Asn167fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV001387029] Chr14:87984478 [GRCh38]
Chr14:88450822 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.1162-5T>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001425394] Chr14:87950753 [GRCh38]
Chr14:88417097 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.450A>G (p.Pro150=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001397988] Chr14:87984526 [GRCh38]
Chr14:88450870 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.622-10A>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001417737] Chr14:87976498 [GRCh38]
Chr14:88442842 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.752+1G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001378544] Chr14:87976357 [GRCh38]
Chr14:88442701 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.1489+9T>C single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001400262] Chr14:87947719 [GRCh38]
Chr14:88414063 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.349A>C (p.Met117Leu) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001377131] Chr14:87986582 [GRCh38]
Chr14:88452926 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.180G>T (p.Ala60=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001425902] Chr14:87992985 [GRCh38]
Chr14:88459329 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1033+1G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001378716] Chr14:87965504 [GRCh38]
Chr14:88431848 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.329-6A>G single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001400341] Chr14:87986608 [GRCh38]
Chr14:88452952 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.990A>G (p.Pro330=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001398606] Chr14:87965548 [GRCh38]
Chr14:88431892 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.195+12G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001430526] Chr14:87992958 [GRCh38]
Chr14:88459302 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.200C>T (p.Thr67Ile) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001379158] Chr14:87988519 [GRCh38]
Chr14:88454863 [GRCh37]
Chr14:14q31.3
likely pathogenic
NM_000153.4(GALC):c.195+7G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001424618] Chr14:87992963 [GRCh38]
Chr14:88459307 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.1884del (p.Lys628fs) deletion Galactosylceramide beta-galactosidase deficiency [RCV001384474] Chr14:87939932 [GRCh38]
Chr14:88406276 [GRCh37]
Chr14:14q31.3
pathogenic
NM_000153.4(GALC):c.1911+10G>A single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001437486] Chr14:87939895 [GRCh38]
Chr14:88406239 [GRCh37]
Chr14:14q31.3
likely benign
NM_000153.4(GALC):c.705A>G (p.Ala235=) single nucleotide variant Galactosylceramide beta-galactosidase deficiency [RCV001399154] Chr14:87976405 [GRCh38]
Chr14:88442749 [GRCh37]
Chr14:14q31.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4115 AgrOrtholog
COSMIC GALC COSMIC
Ensembl Genes ENSG00000054983 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261304 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377198 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377199 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000437513 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000450472 UniProtKB/TrEMBL
  ENSP00000451480 UniProtKB/TrEMBL
  ENSP00000451884 UniProtKB/TrEMBL
  ENSP00000452208 UniProtKB/TrEMBL
  ENSP00000452314 UniProtKB/TrEMBL
  ENSP00000480649 UniProtKB/TrEMBL
Ensembl Transcript ENST00000261304 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393568 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393569 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000544807 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000554372 UniProtKB/TrEMBL
  ENST00000555000 UniProtKB/TrEMBL
  ENST00000555179 UniProtKB/TrEMBL
  ENST00000556879 UniProtKB/TrEMBL
  ENST00000557316 UniProtKB/TrEMBL
  ENST00000622264 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000054983 GTEx
HGNC ID HGNC:4115 ENTREZGENE
Human Proteome Map GALC Human Proteome Map
InterPro Aldolase_TIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_59 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_59_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycoside_hydrolase_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2581 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2581 ENTREZGENE
OMIM 245200 OMIM
  606890 OMIM
PANTHER PTHR15172 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyco_hydro_59 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_59M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28530 PharmGKB
PRINTS GLHYDRLASE59 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51445 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R6E8_HUMAN UniProtKB/TrEMBL
  A0A087WX10_HUMAN UniProtKB/TrEMBL
  A0A0A0MQV0 ENTREZGENE, UniProtKB/TrEMBL
  G3V255_HUMAN UniProtKB/TrEMBL
  G3V4M2_HUMAN UniProtKB/TrEMBL
  G3V5E8_HUMAN UniProtKB/TrEMBL
  GALC_HUMAN UniProtKB/Swiss-Prot
  H0YJG8_HUMAN UniProtKB/TrEMBL
  H0YJV6_HUMAN UniProtKB/TrEMBL
  O95953_HUMAN UniProtKB/TrEMBL
  P54803 ENTREZGENE
UniProt Secondary B4DKE8 UniProtKB/Swiss-Prot
  B4DYN1 UniProtKB/Swiss-Prot
  B4DZJ8 UniProtKB/Swiss-Prot
  B7Z7Z2 UniProtKB/Swiss-Prot
  J3KN25 UniProtKB/Swiss-Prot
  J3KPP8 UniProtKB/Swiss-Prot
  Q8J030 UniProtKB/Swiss-Prot