GALK1 (galactokinase 1) - Rat Genome Database

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Gene: GALK1 (galactokinase 1) Homo sapiens
Analyze
Symbol: GALK1
Name: galactokinase 1
RGD ID: 1313365
HGNC Page HGNC
Description: Enables ATP binding activity; galactokinase activity; and galactose binding activity. Involved in galactose metabolic process. Located in cytoplasm. Implicated in cataract and galactokinase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: epididymis secretory protein Li 19; galactokinase; galactose kinase; GALK; GK1; HEL-S-19
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 Ensembl1775,751,594 - 75,765,236 (-)EnsemblGRCh38hg38GRCh38
GRCh381775,751,469 - 75,765,192 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371773,747,550 - 73,761,273 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361771,265,613 - 71,272,875 (-)NCBINCBI36hg18NCBI36
Build 341771,265,612 - 71,272,875NCBI
Celera1770,344,064 - 70,351,327 (-)NCBI
Cytogenetic Map17q25.1NCBI
HuRef1769,178,882 - 69,186,794 (-)NCBIHuRef
CHM1_11773,819,092 - 73,826,355 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
alpha-D-galactose  (EXP)
alpha-D-galactose 1-phosphate  (EXP)
aristolochic acid  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
calciol  (ISO)
carbon nanotube  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
CU-O LINKAGE  (ISO)
cyclosporin A  (EXP)
D-galactopyranose 1-phosphate  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dicrotophos  (EXP)
dioxygen  (ISO)
doxorubicin  (EXP)
entinostat  (EXP)
enzyme inhibitor  (EXP)
fenvalerate  (ISO)
finasteride  (ISO)
folic acid  (ISO)
galactose  (EXP)
hypochlorous acid  (ISO)
ivermectin  (EXP)
leflunomide  (ISO)
methamphetamine  (ISO)
miconazole  (ISO)
monosodium L-glutamate  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP)
pirinixic acid  (EXP,ISO)
propiconazole  (ISO)
rotenone  (ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
sulindac  (ISO)
tetrachloromethane  (ISO)
tetrahydropalmatine  (EXP)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IDA)
cytosol  (IBA,TAS)
extracellular exosome  (HDA)
membrane  (HDA,IDA)

Molecular Function
ATP binding  (IDA,IEA,ISO)
galactokinase activity  (EXP,IBA,IDA,IEA,ISO,TAS)
galactose binding  (IDA,ISO)
protein binding  (IPI)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:6263522   PMID:7542884   PMID:8908517   PMID:10521295   PMID:10570908   PMID:10790206   PMID:11139256   PMID:11231902   PMID:11978883   PMID:11978884   PMID:12477932   PMID:12694189  
PMID:12942049   PMID:14596685   PMID:15003454   PMID:15024738   PMID:15489334   PMID:15526155   PMID:15590630   PMID:17517531   PMID:18029348   PMID:19056867   PMID:19167051   PMID:19309526  
PMID:19615732   PMID:19913121   PMID:19946888   PMID:20405025   PMID:20628086   PMID:21145461   PMID:21264483   PMID:21832049   PMID:21873635   PMID:22119785   PMID:22268729   PMID:22632133  
PMID:22990118   PMID:23376485   PMID:23517731   PMID:23824909   PMID:23979707   PMID:24211322   PMID:24337577   PMID:25315684   PMID:25515538   PMID:26264872   PMID:26344197   PMID:26618866  
PMID:26638075   PMID:26972000   PMID:27025967   PMID:27107012   PMID:27591049   PMID:27705803   PMID:28319085   PMID:28380382   PMID:28672748   PMID:28675297   PMID:29128334   PMID:29346117  
PMID:29467282   PMID:29505688   PMID:29893426   PMID:30166453   PMID:30253338   PMID:30575818   PMID:30585266   PMID:30619736   PMID:30833792   PMID:30940648   PMID:31091453   PMID:31586073  
PMID:31753913   PMID:31796584   PMID:32296183   PMID:32786267   PMID:32807972   PMID:32838362   PMID:33144569   PMID:33567341   PMID:33658012   PMID:33961781  


Genomics

Comparative Map Data
GALK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1775,751,594 - 75,765,236 (-)EnsemblGRCh38hg38GRCh38
GRCh381775,751,469 - 75,765,192 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371773,747,550 - 73,761,273 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361771,265,613 - 71,272,875 (-)NCBINCBI36hg18NCBI36
Build 341771,265,612 - 71,272,875NCBI
Celera1770,344,064 - 70,351,327 (-)NCBI
Cytogenetic Map17q25.1NCBI
HuRef1769,178,882 - 69,186,794 (-)NCBIHuRef
CHM1_11773,819,092 - 73,826,355 (-)NCBICHM1_1
Galk1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911115,899,183 - 115,903,545 (-)NCBIGRCm39mm39
GRCm39 Ensembl11115,899,283 - 115,903,545 (-)Ensembl
GRCm3811116,008,357 - 116,012,719 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11116,008,457 - 116,012,719 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711115,869,671 - 115,874,033 (-)NCBIGRCm37mm9NCBIm37
MGSCv3611115,824,616 - 115,828,768 (-)NCBImm8
Celera11127,770,557 - 127,774,921 (-)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1180.91NCBI
Galk1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.210101,243,146 - 101,247,323 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl10101,235,994 - 101,247,337 (-)Ensembl
Rnor_6.010104,560,322 - 104,564,499 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10104,560,303 - 104,564,480 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010103,720,860 - 103,725,037 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410106,116,774 - 106,120,951 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.110106,131,278 - 106,135,455 (-)NCBI
Celera1099,817,279 - 99,821,456 (-)NCBICelera
Cytogenetic Map10q32.1NCBI
Galk1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555066,489,800 - 6,493,354 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555066,489,799 - 6,493,354 (+)NCBIChiLan1.0ChiLan1.0
GALK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11775,259,522 - 75,266,578 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1775,259,522 - 75,269,048 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01769,708,641 - 69,715,942 (-)NCBIMhudiblu_PPA_v0panPan3
GALK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.194,818,558 - 4,824,845 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl94,805,650 - 4,833,503 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha95,498,590 - 5,504,867 (+)NCBI
ROS_Cfam_1.095,488,855 - 5,495,207 (+)NCBI
UMICH_Zoey_3.195,528,367 - 5,534,647 (+)NCBI
UNSW_CanFamBas_1.095,638,418 - 5,644,788 (+)NCBI
UU_Cfam_GSD_1.095,699,320 - 5,705,604 (+)NCBI
Galk1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056025,462,160 - 5,467,023 (+)NCBI
SpeTri2.0NW_004936594944,936 - 950,537 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GALK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl125,642,007 - 5,651,183 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1125,642,012 - 5,651,186 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2125,588,391 - 5,597,565 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GALK1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11645,919,316 - 45,926,423 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1645,919,402 - 45,926,304 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607716,676,036 - 16,683,632 (+)NCBIVero_WHO_p1.0
Galk1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248015,646,112 - 5,649,822 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH47571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,753,695 - 73,753,833UniSTSGRCh37
Build 361771,265,290 - 71,265,428RGDNCBI36
Celera1770,343,741 - 70,343,879RGD
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25UniSTS
HuRef1769,178,559 - 69,178,697UniSTS
GeneMap99-GB4 RH Map17482.47UniSTS
NCBI RH Map17787.2UniSTS
GDB:681741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,760,934 - 73,761,279UniSTSGRCh37
Build 361771,272,529 - 71,272,874RGDNCBI36
Celera1770,350,981 - 70,351,326RGD
Cytogenetic Map17q24UniSTS
HuRef1769,186,448 - 69,186,793UniSTS
GDB:681744  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,759,895 - 73,760,265UniSTSGRCh37
Build 361771,271,490 - 71,271,860RGDNCBI36
Celera1770,349,942 - 70,350,312RGD
Cytogenetic Map17q24UniSTS
HuRef1769,185,409 - 69,185,779UniSTS
RH18101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,753,597 - 73,753,787UniSTSGRCh37
Build 361771,265,192 - 71,265,382RGDNCBI36
Celera1770,343,643 - 70,343,833RGD
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25UniSTS
HuRef1769,178,461 - 69,178,651UniSTS
GeneMap99-GB4 RH Map17482.47UniSTS
NCBI RH Map17784.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3849
Count of miRNA genes:920
Interacting mature miRNAs:1111
Transcripts:ENST00000225614, ENST00000437911, ENST00000586244, ENST00000586733, ENST00000587707, ENST00000588479, ENST00000589030, ENST00000589643, ENST00000592494, ENST00000592997
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 1679 1555 1167 584 1571 446 3090 730 1203 333 1351 1462 147 1106 1598 4 2
Low 758 1436 559 40 378 19 1267 1467 2531 86 108 151 27 1 98 1190 2
Below cutoff 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001381985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC087749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF084935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ403672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ403673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ857131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU169174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ389364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L76927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U26401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000225614   ⟹   ENSP00000225614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,751,594 - 75,765,236 (-)Ensembl
RefSeq Acc Id: ENST00000586244   ⟹   ENSP00000468288
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,762,758 - 75,765,192 (-)Ensembl
RefSeq Acc Id: ENST00000586733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,757,972 - 75,758,518 (-)Ensembl
RefSeq Acc Id: ENST00000587707   ⟹   ENSP00000468341
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,758,512 - 75,765,136 (-)Ensembl
RefSeq Acc Id: ENST00000588479   ⟹   ENSP00000465930
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,757,894 - 75,765,192 (-)Ensembl
RefSeq Acc Id: ENST00000589030
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,763,383 - 75,765,133 (-)Ensembl
RefSeq Acc Id: ENST00000589643
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,751,679 - 75,758,519 (-)Ensembl
RefSeq Acc Id: ENST00000592494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,758,591 - 75,765,157 (-)Ensembl
RefSeq Acc Id: ENST00000592997   ⟹   ENSP00000464765
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,757,894 - 75,765,136 (-)Ensembl
RefSeq Acc Id: NM_000154   ⟹   NP_000145
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,757,894 - 75,765,192 (-)NCBI
GRCh371773,754,018 - 73,761,280 (-)ENTREZGENE
Build 361771,265,613 - 71,272,875 (-)NCBI Archive
HuRef1769,178,882 - 69,186,794 (-)ENTREZGENE
CHM1_11773,819,092 - 73,826,355 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001381985   ⟹   NP_001368914
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,751,469 - 75,765,192 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000145   ⟸   NM_000154
- UniProtKB: P51570 (UniProtKB/Swiss-Prot),   V9HWE7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001368914   ⟸   NM_001381985
RefSeq Acc Id: ENSP00000468288   ⟸   ENST00000586244
RefSeq Acc Id: ENSP00000468341   ⟸   ENST00000587707
RefSeq Acc Id: ENSP00000465930   ⟸   ENST00000588479
RefSeq Acc Id: ENSP00000464765   ⟸   ENST00000592997
RefSeq Acc Id: ENSP00000225614   ⟸   ENST00000225614
Promoters
RGD ID:6811181
Promoter ID:HG_ACW:36380
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:GALK1.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361771,272,061 - 71,272,561 (-)MPROMDB
RGD ID:6794001
Promoter ID:HG_KWN:27124
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000375188,   NM_000154
Position:
Human AssemblyChrPosition (strand)Source
Build 361771,272,499 - 71,272,999 (-)MPROMDB
RGD ID:7236331
Promoter ID:EPDNEW_H23911
Type:initiation region
Name:GALK1_1
Description:galactokinase 1
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
GRCh381775,765,192 - 75,765,252EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000154.2(GALK1):c.957G>A (p.Glu319=) single nucleotide variant Deficiency of galactokinase [RCV000558821] Chr17:75758360 [GRCh38]
Chr17:73754441 [GRCh37]
Chr17:17q25.1
benign
NM_000154.2(GALK1):c.761del (p.Ser254fs) deletion Deficiency of galactokinase [RCV000005986] Chr17:75762736 [GRCh38]
Chr17:73758817 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000154.2(GALK1):c.149G>T (p.Gly50Val) single nucleotide variant not provided [RCV000727600] Chr17:75764988 [GRCh38]
Chr17:73761069 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.94G>A (p.Val32Met) single nucleotide variant Deficiency of galactokinase [RCV000005982] Chr17:75765043 [GRCh38]
Chr17:73761124 [GRCh37]
Chr17:17q25.1
pathogenic|uncertain significance
NM_000154.2(GALK1):c.238G>T (p.Glu80Ter) single nucleotide variant Deficiency of galactokinase [RCV000005983] Chr17:75764014 [GRCh38]
Chr17:73760095 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) single nucleotide variant Deficiency of galactokinase [RCV000005984] Chr17:75765055 [GRCh38]
Chr17:73761136 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter) single nucleotide variant Deficiency of galactokinase [RCV000005985] Chr17:75758091 [GRCh38]
Chr17:73754172 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) single nucleotide variant Deficiency of galactokinase [RCV000005987] Chr17:75763032 [GRCh38]
Chr17:73759113 [GRCh37]
Chr17:17q25.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1 copy number loss See cases [RCV000053453] Chr17:75636351..75970744 [GRCh38]
Chr17:73632431..73966825 [GRCh37]
Chr17:71144026..71478420 [NCBI36]
Chr17:17q25.1
pathogenic
NM_000154.2(GALK1):c.189G>A (p.Leu63=) single nucleotide variant Deficiency of galactokinase [RCV000316232]|not provided [RCV001610352]|not specified [RCV000078211] Chr17:75764063 [GRCh38]
Chr17:73760144 [GRCh37]
Chr17:17q25.1
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) single nucleotide variant Deficiency of galactokinase [RCV000670855]|not provided [RCV000179261] Chr17:75758530 [GRCh38]
Chr17:73754611 [GRCh37]
Chr17:17q25.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000154.2(GALK1):c.382G>A (p.Val128Met) single nucleotide variant not provided [RCV000176997] Chr17:75763413 [GRCh38]
Chr17:73759494 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.1089C>T (p.His363=) single nucleotide variant Deficiency of galactokinase [RCV001405932]|not provided [RCV000557626] Chr17:75758228 [GRCh38]
Chr17:73754309 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.944+1G>T single nucleotide variant Deficiency of galactokinase [RCV000670419] Chr17:75758448 [GRCh38]
Chr17:73754529 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_000154.2(GALK1):c.*85C>T single nucleotide variant Deficiency of galactokinase [RCV000301601] Chr17:75757971 [GRCh38]
Chr17:73754052 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.995C>T (p.Ala332Val) single nucleotide variant Deficiency of galactokinase [RCV000270159] Chr17:75758322 [GRCh38]
Chr17:73754403 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp) single nucleotide variant Deficiency of galactokinase [RCV000393397] Chr17:75758221 [GRCh38]
Chr17:73754302 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.1044C>T (p.Phe348=) single nucleotide variant Deficiency of galactokinase [RCV000310163] Chr17:75758273 [GRCh38]
Chr17:73754354 [GRCh37]
Chr17:17q25.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000154.2(GALK1):c.856C>T (p.Arg286Trp) single nucleotide variant Deficiency of galactokinase [RCV000313550] Chr17:75758537 [GRCh38]
Chr17:73754618 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.840C>T (p.His280=) single nucleotide variant Deficiency of galactokinase [RCV000370771]|not provided [RCV001706519] Chr17:75758553 [GRCh38]
Chr17:73754634 [GRCh37]
Chr17:17q25.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000154.2(GALK1):c.165+6G>A single nucleotide variant Deficiency of galactokinase [RCV000373236] Chr17:75764966 [GRCh38]
Chr17:73761047 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) single nucleotide variant Deficiency of galactokinase [RCV000374236] Chr17:75762751 [GRCh38]
Chr17:73758832 [GRCh37]
Chr17:17q25.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000154.2(GALK1):c.787C>T (p.Leu263=) single nucleotide variant Deficiency of galactokinase [RCV000273795] Chr17:75762710 [GRCh38]
Chr17:73758791 [GRCh37]
Chr17:17q25.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000154.2(GALK1):c.-44C>T single nucleotide variant Deficiency of galactokinase [RCV000284355] Chr17:75765180 [GRCh38]
Chr17:73761261 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.786G>A (p.Glu262=) single nucleotide variant Deficiency of galactokinase [RCV000331304] Chr17:75762711 [GRCh38]
Chr17:73758792 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.*32C>T single nucleotide variant Deficiency of galactokinase [RCV000340182]|not provided [RCV001580483] Chr17:75758024 [GRCh38]
Chr17:73754105 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000154.2(GALK1):c.703G>A (p.Glu235Lys) single nucleotide variant Deficiency of galactokinase [RCV000263347] Chr17:75762794 [GRCh38]
Chr17:73758875 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.1024C>T (p.Arg342Cys) single nucleotide variant Deficiency of galactokinase [RCV000362493] Chr17:75758293 [GRCh38]
Chr17:73754374 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4521C>G (p.Pro1507=) single nucleotide variant Deficiency of galactokinase [RCV000375888]|Epidermolysis bullosa junctionalis with pyloric atresia [RCV000289992]|Junctional epidermolysis bullosa, non-Herlitz type [RCV001730600]|Localized epidermolysis bullosa simplex [RCV001730601]|not provided [RCV001540267]|not specified [RCV000244157] Chr17:75754778 [GRCh38]
Chr17:73750859 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro) single nucleotide variant Deficiency of galactokinase [RCV000322321]|Epidermolysis bullosa junctionalis with pyloric atresia [RCV000294224]|Junctional epidermolysis bullosa, non-Herlitz type [RCV001730602]|Localized epidermolysis bullosa simplex [RCV001730603]|not provided [RCV001610568]|not specified [RCV000247515] Chr17:75757422 [GRCh38]
Chr17:73753503 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.*4C>T single nucleotide variant Deficiency of galactokinase [RCV000379238]|Epidermolysis bullosa junctionalis with pyloric atresia [RCV000371669]|not provided [RCV001613048] Chr17:75757559 [GRCh38]
Chr17:73753640 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_000213.5(ITGB4):c.5054-15A>G single nucleotide variant Deficiency of galactokinase [RCV000283824]|Epidermolysis bullosa junctionalis with pyloric atresia [RCV000265090]|not provided [RCV001711937] Chr17:75756928 [GRCh38]
Chr17:73753009 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.*25C>T single nucleotide variant Deficiency of galactokinase [RCV000287232]|Epidermolysis bullosa junctionalis with pyloric atresia [RCV000279492]|Junctional epidermolysis bullosa, non-Herlitz type [RCV001730670]|Localized epidermolysis bullosa simplex [RCV001730671]|not provided [RCV001618569] Chr17:75757580 [GRCh38]
Chr17:73753661 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.4444C>T (p.Leu1482=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000320586] Chr17:75754701 [GRCh38]
Chr17:73750782 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.611+34G>A single nucleotide variant Deficiency of galactokinase [RCV001537762]|not provided [RCV001565900]|not specified [RCV000594369] Chr17:75762980 [GRCh38]
Chr17:73759061 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) single nucleotide variant Deficiency of galactokinase [RCV001232085]|not provided [RCV000734178] Chr17:75758281 [GRCh38]
Chr17:73754362 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
GRCh37/hg19 17q25.1(chr17:73757329-73992584)x3 copy number gain See cases [RCV000511796] Chr17:73757329..73992584 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000154.2(GALK1):c.187C>T (p.Leu63=) single nucleotide variant Deficiency of galactokinase [RCV000634561] Chr17:75764065 [GRCh38]
Chr17:73760146 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.1A>C (p.Met1Leu) single nucleotide variant Deficiency of galactokinase [RCV000672148] Chr17:75765136 [GRCh38]
Chr17:73761217 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_000213.5(ITGB4):c.5350C>T (p.Gln1784Ter) single nucleotide variant Deficiency of galactokinase [RCV000672164] Chr17:75757436 [GRCh38]
Chr17:73753517 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.1119C>T (p.Gly373=) single nucleotide variant Deficiency of galactokinase [RCV001083656]|Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128522]|not provided [RCV000827224] Chr17:75758116 [GRCh38]
Chr17:73754197 [GRCh37]
Chr17:17q25.1
benign|likely benign
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000154.2(GALK1):c.116A>G (p.Asn39Ser) single nucleotide variant Deficiency of galactokinase [RCV000673022] Chr17:75765021 [GRCh38]
Chr17:73761102 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.1017T>A (p.Tyr339Ter) single nucleotide variant Deficiency of galactokinase [RCV000673382] Chr17:75758300 [GRCh38]
Chr17:73754381 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_000154.2(GALK1):c.79G>T (p.Glu27Ter) single nucleotide variant Deficiency of galactokinase [RCV000671410] Chr17:75765058 [GRCh38]
Chr17:73761139 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_000154.2(GALK1):c.841G>A (p.Val281Met) single nucleotide variant Deficiency of galactokinase [RCV000673596] Chr17:75758552 [GRCh38]
Chr17:73754633 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5247_5251del (p.Gly1750fs) deletion Deficiency of galactokinase [RCV000671092] Chr17:75757226..75757230 [GRCh38]
Chr17:73753307..73753311 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.130C>T (p.His44Tyr) single nucleotide variant Deficiency of galactokinase [RCV000671906] Chr17:75765007 [GRCh38]
Chr17:73761088 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.410del (p.Gly137fs) deletion Deficiency of galactokinase [RCV000667929] Chr17:75763385 [GRCh38]
Chr17:73759466 [GRCh37]
Chr17:17q25.1
pathogenic|likely pathogenic
NM_000154.2(GALK1):c.511CAG[1] (p.Gln172del) microsatellite Deficiency of galactokinase [RCV000670768] Chr17:75763109..75763111 [GRCh38]
Chr17:73759190..73759192 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5179_5200del (p.Pro1726_Glu1727insTer) deletion Deficiency of galactokinase [RCV000674109] Chr17:75757065..75757086 [GRCh38]
Chr17:73753146..73753167 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.919_921del (p.Met307del) deletion Deficiency of galactokinase [RCV000674134] Chr17:75758472..75758474 [GRCh38]
Chr17:73754553..73754555 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5218+2T>C single nucleotide variant Deficiency of galactokinase [RCV000668237]|Epidermolysis bullosa junctionalis with pyloric atresia [RCV001536079] Chr17:75757109 [GRCh38]
Chr17:73753190 [GRCh37]
Chr17:17q25.1
likely pathogenic|uncertain significance
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) deletion Deficiency of galactokinase [RCV000674786] Chr17:75758519..75758540 [GRCh38]
Chr17:73754600..73754621 [GRCh37]
Chr17:17q25.1
pathogenic|likely pathogenic
NM_000154.2(GALK1):c.409G>C (p.Gly137Arg) single nucleotide variant Deficiency of galactokinase [RCV000664809] Chr17:75763386 [GRCh38]
Chr17:73759467 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.830G>A (p.Arg277Gln) single nucleotide variant Deficiency of galactokinase [RCV000673540] Chr17:75758563 [GRCh38]
Chr17:73754644 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.-33_-20dup duplication Deficiency of galactokinase [RCV000669388] Chr17:75765155..75765156 [GRCh38]
Chr17:73761236..73761237 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys) single nucleotide variant Deficiency of galactokinase [RCV000669565] Chr17:75763105 [GRCh38]
Chr17:73759186 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.479C>T (p.Ser160Leu) single nucleotide variant Deficiency of galactokinase [RCV000673756] Chr17:75763146 [GRCh38]
Chr17:73759227 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.716G>A (p.Arg239Gln) single nucleotide variant Deficiency of galactokinase [RCV000674545] Chr17:75762781 [GRCh38]
Chr17:73758862 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.612-1G>A single nucleotide variant Deficiency of galactokinase [RCV000670947] Chr17:75762886 [GRCh38]
Chr17:73758967 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_000154.2(GALK1):c.689_711dup (p.Val238fs) duplication Deficiency of galactokinase [RCV000674206] Chr17:75762785..75762786 [GRCh38]
Chr17:73758866..73758867 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_000154.2(GALK1):c.102_103dup (p.Pro35fs) microsatellite Deficiency of galactokinase [RCV000666168] Chr17:75765033..75765034 [GRCh38]
Chr17:73761114..73761115 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_000154.2(GALK1):c.1012dup (p.Val338fs) duplication Deficiency of galactokinase [RCV000666379] Chr17:75758304..75758305 [GRCh38]
Chr17:73754385..73754386 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser) single nucleotide variant Deficiency of galactokinase [RCV000669015] Chr17:75758272 [GRCh38]
Chr17:73754353 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.202C>T (p.Arg68Cys) single nucleotide variant Deficiency of galactokinase [RCV000669092] Chr17:75764050 [GRCh38]
Chr17:73760131 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.410dup (p.Gly138fs) duplication Deficiency of galactokinase [RCV000674666] Chr17:75763384..75763385 [GRCh38]
Chr17:73759465..73759466 [GRCh37]
Chr17:17q25.1
pathogenic|likely pathogenic
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met) single nucleotide variant Deficiency of galactokinase [RCV000666699] Chr17:75758286 [GRCh38]
Chr17:73754367 [GRCh37]
Chr17:17q25.1
pathogenic|likely pathogenic
NM_000154.2(GALK1):c.821G>A (p.Gly274Asp) single nucleotide variant Deficiency of galactokinase [RCV000667836] Chr17:75758572 [GRCh38]
Chr17:73754653 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q25.1(chr17:73414856-74037715)x3 copy number gain not provided [RCV000683962] Chr17:73414856..74037715 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
Single allele microsatellite not provided [RCV001541551] Chr17:75765234..75765235 [GRCh38]
Chr17:73761315..73761316 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.432C>T (p.Ser144=) single nucleotide variant Deficiency of galactokinase [RCV000871787] Chr17:75763363 [GRCh38]
Chr17:73759444 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.794-126T>C single nucleotide variant not provided [RCV001679972] Chr17:75758725 [GRCh38]
Chr17:73754806 [GRCh37]
Chr17:17q25.1
benign
NM_000154.2(GALK1):c.948C>T (p.Asp316=) single nucleotide variant Deficiency of galactokinase [RCV000939374] Chr17:75758369 [GRCh38]
Chr17:73754450 [GRCh37]
Chr17:17q25.1
likely benign
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2
likely pathogenic
NM_000213.5(ITGB4):c.5112G>A (p.Pro1704=) single nucleotide variant not provided [RCV000931720] Chr17:75757001 [GRCh38]
Chr17:73753082 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4671G>C (p.Leu1557=) single nucleotide variant not provided [RCV000939204] Chr17:75755813 [GRCh38]
Chr17:73751894 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.-22T>C single nucleotide variant Deficiency of galactokinase [RCV000990063] Chr17:75765158 [GRCh38]
Chr17:73761239 [GRCh37]
Chr17:17q25.1
benign|conflicting interpretations of pathogenicity
NM_000213.5(ITGB4):c.4707C>T (p.Gly1569=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000402623] Chr17:75755849 [GRCh38]
Chr17:73751930 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4589C>T (p.Thr1530Met) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000380822]|not provided [RCV000914577] Chr17:75755731 [GRCh38]
Chr17:73751812 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.5053+10A>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000304998] Chr17:75756869 [GRCh38]
Chr17:73752950 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.3885C>T (p.Arg1295=) single nucleotide variant not provided [RCV000926702] Chr17:75752265 [GRCh38]
Chr17:73748346 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.657C>T (p.Ala219=) single nucleotide variant Deficiency of galactokinase [RCV000904217] Chr17:75762840 [GRCh38]
Chr17:73758921 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.447G>A (p.Thr149=) single nucleotide variant Deficiency of galactokinase [RCV000945326] Chr17:75763348 [GRCh38]
Chr17:73759429 [GRCh37]
Chr17:17q25.1
likely benign|conflicting interpretations of pathogenicity
NM_000154.2(GALK1):c.771G>A (p.Glu257=) single nucleotide variant Deficiency of galactokinase [RCV000970615] Chr17:75762726 [GRCh38]
Chr17:73758807 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.975G>A (p.Leu325=) single nucleotide variant Deficiency of galactokinase [RCV000937187] Chr17:75758342 [GRCh38]
Chr17:73754423 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.291C>G (p.Arg97=) single nucleotide variant Deficiency of galactokinase [RCV000904669] Chr17:75763961 [GRCh38]
Chr17:73760042 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.363C>A (p.Pro121=) single nucleotide variant Deficiency of galactokinase [RCV000944509] Chr17:75763432 [GRCh38]
Chr17:73759513 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.60C>T (p.Phe20=) single nucleotide variant Deficiency of galactokinase [RCV000966604] Chr17:75765077 [GRCh38]
Chr17:73761158 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.66G>A (p.Glu22=) single nucleotide variant Deficiency of galactokinase [RCV000945684] Chr17:75765071 [GRCh38]
Chr17:73761152 [GRCh37]
Chr17:17q25.1
likely benign|conflicting interpretations of pathogenicity
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter) single nucleotide variant Deficiency of galactokinase [RCV001070440] Chr17:75763954 [GRCh38]
Chr17:73760035 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000154.2(GALK1):c.30G>T (p.Ala10=) single nucleotide variant Deficiency of galactokinase [RCV000979073] Chr17:75765107 [GRCh38]
Chr17:73761188 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.1101C>T (p.His367=) single nucleotide variant Deficiency of galactokinase [RCV000980433] Chr17:75758216 [GRCh38]
Chr17:73754297 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.117C>T (p.Asn39=) single nucleotide variant Deficiency of galactokinase [RCV001274829]|not provided [RCV000938620] Chr17:75765020 [GRCh38]
Chr17:73761101 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000154.2(GALK1):c.935G>A (p.Arg312His) single nucleotide variant Deficiency of galactokinase [RCV000871315] Chr17:75758458 [GRCh38]
Chr17:73754539 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.934C>T (p.Arg312Cys) single nucleotide variant Deficiency of galactokinase [RCV000873079] Chr17:75758459 [GRCh38]
Chr17:73754540 [GRCh37]
Chr17:17q25.1
benign
NM_000154.2(GALK1):c.294G>T (p.Ser98=) single nucleotide variant Deficiency of galactokinase [RCV001418866]|not provided [RCV000898136] Chr17:75763958 [GRCh38]
Chr17:73760039 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.171G>A (p.Leu57=) single nucleotide variant Deficiency of galactokinase [RCV001485128]|not provided [RCV000879453] Chr17:75764081 [GRCh38]
Chr17:73760162 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.1167G>A (p.Val389=) single nucleotide variant Deficiency of galactokinase [RCV000949161] Chr17:75758068 [GRCh38]
Chr17:73754149 [GRCh37]
Chr17:17q25.1
benign
NM_000154.2(GALK1):c.975G>T (p.Leu325=) single nucleotide variant Deficiency of galactokinase [RCV000942236] Chr17:75758342 [GRCh38]
Chr17:73754423 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.1107+5G>A single nucleotide variant Deficiency of galactokinase [RCV000872386] Chr17:75758205 [GRCh38]
Chr17:73754286 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_000154.2(GALK1):c.195C>T (p.Gly65=) single nucleotide variant Deficiency of galactokinase [RCV000960438] Chr17:75764057 [GRCh38]
Chr17:73760138 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.3809T>C (p.Met1270Thr) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000313814] Chr17:75752189 [GRCh38]
Chr17:73748270 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4584C>T (p.Pro1528=) single nucleotide variant not provided [RCV000934073] Chr17:75755726 [GRCh38]
Chr17:73751807 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4944G>A (p.Val1648=) single nucleotide variant not provided [RCV000943336] Chr17:75756750 [GRCh38]
Chr17:73752831 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.5013C>T (p.Ile1671=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000396349] Chr17:75756819 [GRCh38]
Chr17:73752900 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5179G>C (p.Glu1727Gln) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000382536] Chr17:75757068 [GRCh38]
Chr17:73753149 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.678del (p.Asn226fs) deletion Galactokinase deficiency with cataracts [RCV000786022] Chr17:75762819 [GRCh38]
Chr17:73758900 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.4319-7C>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000317453] Chr17:75754569 [GRCh38]
Chr17:73750650 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4795C>T (p.Arg1599Cys) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000349541] Chr17:75756515 [GRCh38]
Chr17:73752596 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.864G>C (p.Thr288=) single nucleotide variant Deficiency of galactokinase [RCV000873527] Chr17:75758529 [GRCh38]
Chr17:73754610 [GRCh37]
Chr17:17q25.1
benign|conflicting interpretations of pathogenicity
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp) single nucleotide variant Deficiency of galactokinase [RCV000800933] Chr17:75762731 [GRCh38]
Chr17:73758812 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.5243G>A (p.Arg1748His) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000386190] Chr17:75757224 [GRCh38]
Chr17:73753305 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4441G>A (p.Val1481Met) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000267845] Chr17:75754698 [GRCh38]
Chr17:73750779 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.4854T>C (p.Ile1618=) single nucleotide variant not provided [RCV000980962] Chr17:75756574 [GRCh38]
Chr17:73752655 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4256_4276dup (p.Asp1419_Lys1425dup) duplication not provided [RCV000722447] Chr17:75753910..75753911 [GRCh38]
Chr17:73749991..73749992 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4829G>A (p.Arg1610Gln) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000396350] Chr17:75756549 [GRCh38]
Chr17:73752630 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q25.1(chr17:73596063-73959466)x3 copy number gain not provided [RCV000848371] Chr17:73596063..73959466 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5055G>C (p.Gly1685=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000303852]|not provided [RCV000970327] Chr17:75756944 [GRCh38]
Chr17:73753025 [GRCh37]
Chr17:17q25.1
benign|likely benign|uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs) indel Deficiency of galactokinase [RCV001246394] Chr17:75758221..75758234 [GRCh38]
Chr17:73754302..73754315 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.5219-15A>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000276703] Chr17:75757185 [GRCh38]
Chr17:73753266 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4642_4645del (p.Trp1548fs) deletion not provided [RCV000732708] Chr17:75755782..75755785 [GRCh38]
Chr17:73751863..73751866 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000154.2(GALK1):c.710del (p.Pro237fs) deletion Deficiency of galactokinase [RCV001229403] Chr17:75762787 [GRCh38]
Chr17:73758868 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.4101T>A (p.Asp1367Glu) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000259880] Chr17:75752570 [GRCh38]
Chr17:73748651 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.410G>A (p.Gly137Asp) single nucleotide variant Deficiency of galactokinase [RCV000990062] Chr17:75763385 [GRCh38]
Chr17:73759466 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_000213.5(ITGB4):c.4663C>T (p.Arg1555Trp) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000350615] Chr17:75755805 [GRCh38]
Chr17:73751886 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4417C>T (p.Leu1473=) single nucleotide variant not provided [RCV000957655] Chr17:75754674 [GRCh38]
Chr17:73750755 [GRCh37]
Chr17:17q25.1
benign
NM_000154.2(GALK1):c.-27A>C single nucleotide variant Deficiency of galactokinase [RCV001128623] Chr17:75765163 [GRCh38]
Chr17:73761244 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5091del (p.Glu1698fs) deletion Epidermolysis bullosa junctionalis with pyloric atresia [RCV001250537] Chr17:75756977 [GRCh38]
Chr17:73753058 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_000213.5(ITGB4):c.5434A>G (p.Ser1812Gly) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126460] Chr17:75757520 [GRCh38]
Chr17:73753601 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4965C>T (p.Asp1655=) single nucleotide variant not provided [RCV000929911] Chr17:75756771 [GRCh38]
Chr17:73752852 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4558+177G>A single nucleotide variant not provided [RCV001560473] Chr17:75754992 [GRCh38]
Chr17:73751073 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4708+142C>T single nucleotide variant not provided [RCV001568488] Chr17:75755992 [GRCh38]
Chr17:73752073 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.611+56del deletion not provided [RCV001636243] Chr17:75762958 [GRCh38]
Chr17:73759039 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.4558+143_4558+144insTA insertion not provided [RCV001692602] Chr17:75754957..75754958 [GRCh38]
Chr17:73751038..73751039 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.5054-35G>C single nucleotide variant not provided [RCV001597896] Chr17:75756908 [GRCh38]
Chr17:73752989 [GRCh37]
Chr17:17q25.1
benign
NM_000154.2(GALK1):c.165+233C>T single nucleotide variant not provided [RCV001684798] Chr17:75764739 [GRCh38]
Chr17:73760820 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.5329+49A>G single nucleotide variant not provided [RCV001654450] Chr17:75757359 [GRCh38]
Chr17:73753440 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.5054-25C>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001730893]|Junctional epidermolysis bullosa, non-Herlitz type [RCV001730891]|Localized epidermolysis bullosa simplex [RCV001730892]|not provided [RCV001641122] Chr17:75756918 [GRCh38]
Chr17:73752999 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.4559-94_4559-93insACAT insertion not provided [RCV001693273] Chr17:75755607..75755608 [GRCh38]
Chr17:73751688..73751689 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.4708+59T>A single nucleotide variant not provided [RCV001652242] Chr17:75755909 [GRCh38]
Chr17:73751990 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.3794-274A>G single nucleotide variant not provided [RCV001585136] Chr17:75751900 [GRCh38]
Chr17:73747981 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.150C>T (p.Gly50=) single nucleotide variant Deficiency of galactokinase [RCV001417997]|not provided [RCV000929573] Chr17:75764987 [GRCh38]
Chr17:73761068 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.519C>G (p.Ala173=) single nucleotide variant Deficiency of galactokinase [RCV000929700] Chr17:75763106 [GRCh38]
Chr17:73759187 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.858G>A (p.Arg286=) single nucleotide variant Deficiency of galactokinase [RCV000944854] Chr17:75758535 [GRCh38]
Chr17:73754616 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.611+9C>T single nucleotide variant Deficiency of galactokinase [RCV000878769] Chr17:75763005 [GRCh38]
Chr17:73759086 [GRCh37]
Chr17:17q25.1
benign
NM_000154.2(GALK1):c.987G>A (p.Val329=) single nucleotide variant Deficiency of galactokinase [RCV000951574] Chr17:75758330 [GRCh38]
Chr17:73754411 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_000154.2(GALK1):c.396A>C (p.Ser132=) single nucleotide variant Deficiency of galactokinase [RCV001443629]|not provided [RCV000931064] Chr17:75763399 [GRCh38]
Chr17:73759480 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.857G>A (p.Arg286Gln) single nucleotide variant Deficiency of galactokinase [RCV000952402] Chr17:75758536 [GRCh38]
Chr17:73754617 [GRCh37]
Chr17:17q25.1
benign
NM_000154.2(GALK1):c.1077C>T (p.Ser359=) single nucleotide variant Deficiency of galactokinase [RCV000908086] Chr17:75758240 [GRCh38]
Chr17:73754321 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.747G>A (p.Ala249=) single nucleotide variant Deficiency of galactokinase [RCV000945913] Chr17:75762750 [GRCh38]
Chr17:73758831 [GRCh37]
Chr17:17q25.1
likely benign|conflicting interpretations of pathogenicity
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=) single nucleotide variant Deficiency of galactokinase [RCV000885632] Chr17:75758119 [GRCh38]
Chr17:73754200 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.1035C>T (p.Gly345=) single nucleotide variant Deficiency of galactokinase [RCV000910882] Chr17:75758282 [GRCh38]
Chr17:73754363 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.748C>T (p.Leu250=) single nucleotide variant Deficiency of galactokinase [RCV000898452] Chr17:75762749 [GRCh38]
Chr17:73758830 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.260G>A (p.Arg87Gln) single nucleotide variant Deficiency of galactokinase [RCV001244249] Chr17:75763992 [GRCh38]
Chr17:73760073 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.289C>T (p.Arg97Cys) single nucleotide variant Deficiency of galactokinase [RCV001126560] Chr17:75763963 [GRCh38]
Chr17:73760044 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.267G>T (p.Gln89His) single nucleotide variant Deficiency of galactokinase [RCV001126561] Chr17:75763985 [GRCh38]
Chr17:73760066 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.203G>T (p.Arg68Leu) single nucleotide variant Deficiency of galactokinase [RCV001126562] Chr17:75764049 [GRCh38]
Chr17:73760130 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.3841C>T (p.Arg1281Trp) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000015863]|not provided [RCV000359496] Chr17:75752221 [GRCh38]
Chr17:73748302 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.3977-30_3977-17del deletion not provided [RCV000486557] Chr17:75752416..75752429 [GRCh38]
Chr17:73748497..73748510 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_000213.5(ITGB4):c.4902C>G (p.Ser1634=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000301340]|not provided [RCV000971068] Chr17:75756708 [GRCh38]
Chr17:73752789 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_000213.5(ITGB4):c.5193C>T (p.Ile1731=) single nucleotide variant not provided [RCV000898669] Chr17:75757082 [GRCh38]
Chr17:73753163 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4440C>T (p.Arg1480=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122620] Chr17:75754697 [GRCh38]
Chr17:73750778 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.3858G>A (p.Glu1286=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000370688] Chr17:75752238 [GRCh38]
Chr17:73748319 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5054-11T>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128427] Chr17:75756932 [GRCh38]
Chr17:73753013 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.1117G>A (p.Gly373Ser) single nucleotide variant Deficiency of galactokinase [RCV001128523] Chr17:75758118 [GRCh38]
Chr17:73754199 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5172C>T (p.Phe1724=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122722]|not provided [RCV000968359] Chr17:75757061 [GRCh38]
Chr17:73753142 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.4652C>T (p.Pro1551Leu) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001123708] Chr17:75755794 [GRCh38]
Chr17:73751875 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4489C>T (p.Arg1497Cys) single nucleotide variant not provided [RCV000973951] Chr17:75754746 [GRCh38]
Chr17:73750827 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4598G>A (p.Arg1533His) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000288815] Chr17:75755740 [GRCh38]
Chr17:73751821 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.530del (p.Phe177fs) deletion Deficiency of galactokinase [RCV001225611] Chr17:75763095 [GRCh38]
Chr17:73759176 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000154.2(GALK1):c.928A>G (p.Ser310Gly) single nucleotide variant Deficiency of galactokinase [RCV001244125] Chr17:75758465 [GRCh38]
Chr17:73754546 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4109-35C>G single nucleotide variant not provided [RCV001569731] Chr17:75753730 [GRCh38]
Chr17:73749811 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.794-208G>A single nucleotide variant not provided [RCV001557136] Chr17:75758807 [GRCh38]
Chr17:73754888 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.321C>T (p.Ala107=) single nucleotide variant Deficiency of galactokinase [RCV001563760] Chr17:75763931 [GRCh38]
Chr17:73760012 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.998T>G (p.Leu333Arg) single nucleotide variant Deficiency of galactokinase [RCV001563761] Chr17:75758319 [GRCh38]
Chr17:73754400 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4558+146_4558+147insAT insertion not provided [RCV001559481] Chr17:75754961..75754962 [GRCh38]
Chr17:73751042..73751043 [GRCh37]
Chr17:17q25.1
likely benign
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3 copy number gain not provided [RCV001006919] Chr17:73261871..78608763 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
NM_000213.5(ITGB4):c.4558+185A>T single nucleotide variant not provided [RCV001597449] Chr17:75755000 [GRCh38]
Chr17:73751081 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.4109-183G>T single nucleotide variant not provided [RCV001652765] Chr17:75753582 [GRCh38]
Chr17:73749663 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.4558+202C>T single nucleotide variant not provided [RCV001572025] Chr17:75755017 [GRCh38]
Chr17:73751098 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.165+172T>A single nucleotide variant not provided [RCV001575465] Chr17:75764800 [GRCh38]
Chr17:73760881 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4558+382G>A single nucleotide variant not provided [RCV001598319] Chr17:75755197 [GRCh38]
Chr17:73751278 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.5264C>T (p.Pro1755Leu) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001123812] Chr17:75757245 [GRCh38]
Chr17:73753326 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5313C>T (p.Thr1771=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001123814] Chr17:75757294 [GRCh38]
Chr17:73753375 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4067C>T (p.Ser1356Phe) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128334]|Localized epidermolysis bullosa simplex [RCV001760090] Chr17:75752536 [GRCh38]
Chr17:73748617 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5053+15G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128426] Chr17:75756874 [GRCh38]
Chr17:73752955 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4643G>A (p.Trp1548Ter) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000015858] Chr17:75755785 [GRCh38]
Chr17:73751866 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.4834C>T (p.Arg1612Cys) single nucleotide variant not provided [RCV000731249] Chr17:75756554 [GRCh38]
Chr17:73752635 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4708+2_4708+5del deletion Epidermolysis bullosa junctionalis with pyloric atresia [RCV000779231] Chr17:75755851..75755854 [GRCh38]
Chr17:73751932..73751935 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4659C>T (p.Cys1553=) single nucleotide variant not provided [RCV000884643] Chr17:75755801 [GRCh38]
Chr17:73751882 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000356943]|not provided [RCV000954761]|not specified [RCV000735104] Chr17:75752477 [GRCh38]
Chr17:73748558 [GRCh37]
Chr17:17q25.1
benign|likely benign|uncertain significance
NM_000213.5(ITGB4):c.4708+5G>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126376] Chr17:75755855 [GRCh38]
Chr17:73751936 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5127C>T (p.Asn1709=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000325570] Chr17:75757016 [GRCh38]
Chr17:73753097 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4093G>A (p.Val1365Ile) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128335]|not provided [RCV000906032] Chr17:75752562 [GRCh38]
Chr17:73748643 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.5106C>T (p.Thr1702=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122721] Chr17:75756995 [GRCh38]
Chr17:73753076 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.*171T>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126462] Chr17:75757726 [GRCh38]
Chr17:73753807 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4564C>T (p.Arg1522Cys) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001123707] Chr17:75755706 [GRCh38]
Chr17:73751787 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5273G>A (p.Ser1758Asn) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001123813] Chr17:75757254 [GRCh38]
Chr17:73753335 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4064G>A (p.Arg1355His) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128333] Chr17:75752533 [GRCh38]
Chr17:73748614 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5314G>A (p.Glu1772Lys) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001123815] Chr17:75757295 [GRCh38]
Chr17:73753376 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.814A>G (p.Lys272Glu) single nucleotide variant Deficiency of galactokinase [RCV001123901] Chr17:75758579 [GRCh38]
Chr17:73754660 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.1152C>T (p.Ala384=) single nucleotide variant Deficiency of galactokinase [RCV001128520] Chr17:75758083 [GRCh38]
Chr17:73754164 [GRCh37]
Chr17:17q25.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000154.2(GALK1):c.1120G>A (p.Gly374Arg) single nucleotide variant Deficiency of galactokinase [RCV001128521] Chr17:75758115 [GRCh38]
Chr17:73754196 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4402G>A (p.Ala1468Thr) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122619] Chr17:75754659 [GRCh38]
Chr17:73750740 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5219-15A>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122723] Chr17:75757185 [GRCh38]
Chr17:73753266 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.460C>T (p.Gln154Ter) single nucleotide variant Deficiency of galactokinase [RCV001580707] Chr17:75763335 [GRCh38]
Chr17:73759416 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_000213.5(ITGB4):c.5072G>A (p.Arg1691Gln) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000365031] Chr17:75756961 [GRCh38]
Chr17:73753042 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4558+146_4558+147insACAT insertion not provided [RCV001670930] Chr17:75754961..75754962 [GRCh38]
Chr17:73751042..73751043 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.4109-216T>C single nucleotide variant not provided [RCV001610092] Chr17:75753549 [GRCh38]
Chr17:73749630 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.4708+26C>T single nucleotide variant not provided [RCV001650373] Chr17:75755876 [GRCh38]
Chr17:73751957 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.4932A>G (p.Pro1644=) single nucleotide variant not provided [RCV000892195] Chr17:75756738 [GRCh38]
Chr17:73752819 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.5408G>A (p.Arg1803Gln) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000337992]|not provided [RCV000892996] Chr17:75757494 [GRCh38]
Chr17:73753575 [GRCh37]
Chr17:17q25.1
benign|likely benign|uncertain significance
NM_000213.5(ITGB4):c.4734dup (p.Asn1579fs) duplication Epidermolysis bullosa junctionalis with pyloric atresia [RCV001580587] Chr17:75756450..75756451 [GRCh38]
Chr17:73752531..73752532 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.5367C>T (p.Gly1789=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001123816]|not provided [RCV000909597] Chr17:75757453 [GRCh38]
Chr17:73753534 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_000213.5(ITGB4):c.3794-9C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126283] Chr17:75752165 [GRCh38]
Chr17:73748246 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4014G>C (p.Gln1338His) single nucleotide variant Localized epidermolysis bullosa simplex [RCV001197321] Chr17:75752483 [GRCh38]
Chr17:73748564 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5307C>T (p.Ser1769=) single nucleotide variant not provided [RCV000882180] Chr17:75757288 [GRCh38]
Chr17:73753369 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.3861C>T (p.Asn1287=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000401984]|not provided [RCV000882414] Chr17:75752241 [GRCh38]
Chr17:73748322 [GRCh37]
Chr17:17q25.1
benign|likely benign|uncertain significance
NM_000213.5(ITGB4):c.5091C>T (p.Pro1697=) single nucleotide variant not provided [RCV000883495] Chr17:75756980 [GRCh38]
Chr17:73753061 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4319-3C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000360558] Chr17:75754573 [GRCh38]
Chr17:73750654 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5092G>A (p.Glu1698Lys) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000272806] Chr17:75756981 [GRCh38]
Chr17:73753062 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4509G>A (p.Ser1503=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000377511]|not provided [RCV000891227] Chr17:75754766 [GRCh38]
Chr17:73750847 [GRCh37]
Chr17:17q25.1
benign|likely benign|uncertain significance
NM_000213.5(ITGB4):c.4559-4C>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000328672]|not provided [RCV000892418]|not specified [RCV001729539] Chr17:75755697 [GRCh38]
Chr17:73751778 [GRCh37]
Chr17:17q25.1
benign|uncertain significance
NM_000213.5(ITGB4):c.*45C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000341463] Chr17:75757600 [GRCh38]
Chr17:73753681 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5229G>A (p.Pro1743=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000334052]|not provided [RCV000904969] Chr17:75757210 [GRCh38]
Chr17:73753291 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.4389G>A (p.Thr1463=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001122618]|not provided [RCV000906237] Chr17:75754646 [GRCh38]
Chr17:73750727 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.*58G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000393217] Chr17:75757613 [GRCh38]
Chr17:73753694 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.3884G>A (p.Arg1295His) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126284] Chr17:75752264 [GRCh38]
Chr17:73748345 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4719T>C (p.His1573=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126377] Chr17:75756439 [GRCh38]
Chr17:73752520 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4788C>T (p.Tyr1596=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126378] Chr17:75756508 [GRCh38]
Chr17:73752589 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.*3G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001126461] Chr17:75757558 [GRCh38]
Chr17:73753639 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.485C>G (p.Thr162Arg) single nucleotide variant Deficiency of galactokinase [RCV001126558] Chr17:75763140 [GRCh38]
Chr17:73759221 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.396A>G (p.Ser132=) single nucleotide variant Deficiency of galactokinase [RCV001126559] Chr17:75763399 [GRCh38]
Chr17:73759480 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4532C>A (p.Ser1511Tyr) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001123706] Chr17:75754789 [GRCh38]
Chr17:73750870 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.742C>T (p.Arg248Trp) single nucleotide variant Deficiency of galactokinase [RCV001123902] Chr17:75762755 [GRCh38]
Chr17:73758836 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5329+2T>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000490437] Chr17:75757312 [GRCh38]
Chr17:73753393 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_000213.5(ITGB4):c.4359C>T (p.Gly1453=) single nucleotide variant not provided [RCV000929201] Chr17:75754616 [GRCh38]
Chr17:73750697 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4939C>T (p.Leu1647=) single nucleotide variant not provided [RCV000930844] Chr17:75756745 [GRCh38]
Chr17:73752826 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.3977-4G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128332] Chr17:75752442 [GRCh38]
Chr17:73748523 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5053+14C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000362066]|not provided [RCV001556550] Chr17:75756873 [GRCh38]
Chr17:73752954 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000213.5(ITGB4):c.4937C>T (p.Pro1646Leu) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000353827] Chr17:75756743 [GRCh38]
Chr17:73752824 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4415_4418del (p.His1472fs) deletion not provided [RCV000722402] Chr17:75754672..75754675 [GRCh38]
Chr17:73750753..73750756 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.611+1G>T single nucleotide variant Deficiency of galactokinase [RCV001215181] Chr17:75763013 [GRCh38]
Chr17:73759094 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.4709-3del deletion Epidermolysis bullosa junctionalis with pyloric atresia [RCV000292211]|not provided [RCV000879452] Chr17:75756421 [GRCh38]
Chr17:73752502 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_000213.5(ITGB4):c.4635_4636del (p.Arg1545fs) microsatellite not provided [RCV001008069] Chr17:75755775..75755776 [GRCh38]
Chr17:73751856..73751857 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.4620del (p.Thr1542fs) deletion Epidermolysis bullosa junctionalis with pyloric atresia [RCV000015852] Chr17:75755759 [GRCh38]
Chr17:73751840 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000213.5(ITGB4):c.3976+15G>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000299819]|not provided [RCV001566989] Chr17:75752371 [GRCh38]
Chr17:73748452 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_000154.2(GALK1):c.784G>T (p.Glu262Ter) single nucleotide variant Deficiency of galactokinase [RCV001263817] Chr17:75762713 [GRCh38]
Chr17:73758794 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_000154.2(GALK1):c.775C>T (p.Gln259Ter) single nucleotide variant Deficiency of galactokinase [RCV001263818] Chr17:75762722 [GRCh38]
Chr17:73758803 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_000154.2(GALK1):c.479C>A (p.Ser160Ter) single nucleotide variant Deficiency of galactokinase [RCV001263819] Chr17:75763146 [GRCh38]
Chr17:73759227 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_000154.2(GALK1):c.317G>A (p.Trp106Ter) single nucleotide variant Deficiency of galactokinase [RCV001263820] Chr17:75763935 [GRCh38]
Chr17:73760016 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_000154.2(GALK1):c.250G>T (p.Glu84Ter) single nucleotide variant Deficiency of galactokinase [RCV001263986] Chr17:75764002 [GRCh38]
Chr17:73760083 [GRCh37]
Chr17:17q25.1
likely pathogenic
NM_000154.2(GALK1):c.587G>A (p.Gly196Asp) single nucleotide variant Deficiency of galactokinase [RCV001317765] Chr17:75763038 [GRCh38]
Chr17:73759119 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5219-3C>T single nucleotide variant not provided [RCV001310381] Chr17:75757197 [GRCh38]
Chr17:73753278 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.82C>T (p.Pro28Ser) single nucleotide variant Deficiency of galactokinase [RCV001314310] Chr17:75765055 [GRCh38]
Chr17:73761136 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.476-74C>A single nucleotide variant Deficiency of galactokinase [RCV001537763]|not provided [RCV001692461] Chr17:75763223 [GRCh38]
Chr17:73759304 [GRCh37]
Chr17:17q25.1
benign
NM_000154.2(GALK1):c.417G>A (p.Leu139=) single nucleotide variant Deficiency of galactokinase [RCV001392510] Chr17:75763378 [GRCh38]
Chr17:73759459 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.163A>G (p.Met55Val) single nucleotide variant Deficiency of galactokinase [RCV001368488] Chr17:75764974 [GRCh38]
Chr17:73761055 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.42C>G (p.Ala14=) single nucleotide variant Deficiency of galactokinase [RCV001279293] Chr17:75765095 [GRCh38]
Chr17:73761176 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.982C>T (p.Leu328=) single nucleotide variant Deficiency of galactokinase [RCV001433680] Chr17:75758335 [GRCh38]
Chr17:73754416 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.765C>T (p.Leu255=) single nucleotide variant Deficiency of galactokinase [RCV001397503] Chr17:75762732 [GRCh38]
Chr17:73758813 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4558+381C>T single nucleotide variant not provided [RCV001358125] Chr17:75755196 [GRCh38]
Chr17:73751277 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4857A>G (p.Glu1619=) single nucleotide variant not provided [RCV001310380] Chr17:75756577 [GRCh38]
Chr17:73752658 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.794-6C>T single nucleotide variant Deficiency of galactokinase [RCV001396469] Chr17:75758605 [GRCh38]
Chr17:73754686 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.116A>C (p.Asn39Thr) single nucleotide variant Deficiency of galactokinase [RCV001343640] Chr17:75765021 [GRCh38]
Chr17:73761102 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4051G>A (p.Asp1351Asn) single nucleotide variant not provided [RCV001340726] Chr17:75752520 [GRCh38]
Chr17:73748601 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.919A>C (p.Met307Leu) single nucleotide variant Deficiency of galactokinase [RCV001315808] Chr17:75758474 [GRCh38]
Chr17:73754555 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.1094T>C (p.Met365Thr) single nucleotide variant Deficiency of galactokinase [RCV001279291] Chr17:75758223 [GRCh38]
Chr17:73754304 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.1057G>A (p.Val353Met) single nucleotide variant Deficiency of galactokinase [RCV001359978] Chr17:75758260 [GRCh38]
Chr17:73754341 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.864G>A (p.Thr288=) single nucleotide variant Deficiency of galactokinase [RCV001279292] Chr17:75758529 [GRCh38]
Chr17:73754610 [GRCh37]
Chr17:17q25.1
likely benign|uncertain significance
NM_000154.2(GALK1):c.1025G>A (p.Arg342His) single nucleotide variant Deficiency of galactokinase [RCV001298268] Chr17:75758292 [GRCh38]
Chr17:73754373 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.645C>T (p.Asp215=) single nucleotide variant Deficiency of galactokinase [RCV001453498] Chr17:75762852 [GRCh38]
Chr17:73758933 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.1011G>C (p.Gly337=) single nucleotide variant Deficiency of galactokinase [RCV001498258] Chr17:75758306 [GRCh38]
Chr17:73754387 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.166-6dup duplication Deficiency of galactokinase [RCV001399145] Chr17:75764091..75764092 [GRCh38]
Chr17:73760172..73760173 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.1155T>C (p.Asp385=) single nucleotide variant Deficiency of galactokinase [RCV001484175] Chr17:75758080 [GRCh38]
Chr17:73754161 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.42C>T (p.Ala14=) single nucleotide variant Deficiency of galactokinase [RCV001470209] Chr17:75765095 [GRCh38]
Chr17:73761176 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.945-4G>A single nucleotide variant Deficiency of galactokinase [RCV001475248] Chr17:75758376 [GRCh38]
Chr17:73754457 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.489A>T (p.Ile163=) single nucleotide variant Deficiency of galactokinase [RCV001487727] Chr17:75763136 [GRCh38]
Chr17:73759217 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.660G>A (p.Val220=) single nucleotide variant Deficiency of galactokinase [RCV001490842] Chr17:75762837 [GRCh38]
Chr17:73758918 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.876G>A (p.Ala292=) single nucleotide variant Deficiency of galactokinase [RCV001451597] Chr17:75758517 [GRCh38]
Chr17:73754598 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.93C>G (p.Ala31=) single nucleotide variant Deficiency of galactokinase [RCV001470924] Chr17:75765044 [GRCh38]
Chr17:73761125 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.780G>A (p.Leu260=) single nucleotide variant Deficiency of galactokinase [RCV001451799] Chr17:75762717 [GRCh38]
Chr17:73758798 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.495C>T (p.Ala165=) single nucleotide variant Deficiency of galactokinase [RCV001479841] Chr17:75763130 [GRCh38]
Chr17:73759211 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.909T>C (p.Phe303=) single nucleotide variant Deficiency of galactokinase [RCV001465770] Chr17:75758484 [GRCh38]
Chr17:73754565 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.663C>T (p.Leu221=) single nucleotide variant Deficiency of galactokinase [RCV001491524] Chr17:75762834 [GRCh38]
Chr17:73758915 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.153G>T (p.Leu51=) single nucleotide variant Deficiency of galactokinase [RCV001483895] Chr17:75764984 [GRCh38]
Chr17:73761065 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.498C>T (p.Arg166=) single nucleotide variant Deficiency of galactokinase [RCV001471946] Chr17:75763127 [GRCh38]
Chr17:73759208 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.1108-40C>T single nucleotide variant Deficiency of galactokinase [RCV001537761]|not provided [RCV001673147] Chr17:75758167 [GRCh38]
Chr17:73754248 [GRCh37]
Chr17:17q25.1
benign|likely benign
NM_000154.2(GALK1):c.591C>T (p.His197=) single nucleotide variant Deficiency of galactokinase [RCV001489670] Chr17:75763034 [GRCh38]
Chr17:73759115 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.1107+7G>A single nucleotide variant Deficiency of galactokinase [RCV001478712] Chr17:75758203 [GRCh38]
Chr17:73754284 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.915C>T (p.Arg305=) single nucleotide variant Deficiency of galactokinase [RCV001400551] Chr17:75758478 [GRCh38]
Chr17:73754559 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.356-32C>T single nucleotide variant Deficiency of galactokinase [RCV001537764]|not provided [RCV001692462] Chr17:75763471 [GRCh38]
Chr17:73759552 [GRCh37]
Chr17:17q25.1
benign
NM_000154.2(GALK1):c.441G>A (p.Val147=) single nucleotide variant Deficiency of galactokinase [RCV001435634] Chr17:75763354 [GRCh38]
Chr17:73759435 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.1131C>T (p.Thr377=) single nucleotide variant Deficiency of galactokinase [RCV001399342] Chr17:75758104 [GRCh38]
Chr17:73754185 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.417G>C (p.Leu139=) single nucleotide variant Deficiency of galactokinase [RCV001442340] Chr17:75763378 [GRCh38]
Chr17:73759459 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.157C>T (p.Leu53=) single nucleotide variant Deficiency of galactokinase [RCV001416375] Chr17:75764980 [GRCh38]
Chr17:73761061 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.1107+9G>A single nucleotide variant Deficiency of galactokinase [RCV001429624] Chr17:75758201 [GRCh38]
Chr17:73754282 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.519C>T (p.Ala173=) single nucleotide variant Deficiency of galactokinase [RCV001408656] Chr17:75763106 [GRCh38]
Chr17:73759187 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.510T>A (p.Cys170Ter) single nucleotide variant Deficiency of galactokinase [RCV001381964] Chr17:75763115 [GRCh38]
Chr17:73759196 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000154.2(GALK1):c.531C>T (p.Phe177=) single nucleotide variant Deficiency of galactokinase [RCV001440507] Chr17:75763094 [GRCh38]
Chr17:73759175 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.369T>C (p.Pro123=) single nucleotide variant Deficiency of galactokinase [RCV001406495] Chr17:75763426 [GRCh38]
Chr17:73759507 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.351C>T (p.Tyr117=) single nucleotide variant Deficiency of galactokinase [RCV001404342] Chr17:75763901 [GRCh38]
Chr17:73759982 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.1005G>T (p.Val335=) single nucleotide variant Deficiency of galactokinase [RCV001464942] Chr17:75758312 [GRCh38]
Chr17:73754393 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.537G>A (p.Gly179=) single nucleotide variant Deficiency of galactokinase [RCV001465022] Chr17:75763088 [GRCh38]
Chr17:73759169 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.793+192A>C single nucleotide variant not provided [RCV001592678] Chr17:75762512 [GRCh38]
Chr17:73758593 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.594G>A (p.Ala198=) single nucleotide variant Deficiency of galactokinase [RCV001497085] Chr17:75763031 [GRCh38]
Chr17:73759112 [GRCh37]
Chr17:17q25.1
likely benign
Single allele single nucleotide variant not provided [RCV001614506] Chr17:75765315 [GRCh38]
Chr17:73761396 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.4664G>A (p.Arg1555Gln) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001527401] Chr17:75755806 [GRCh38]
Chr17:73751887 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4109-248G>T single nucleotide variant not provided [RCV001674363] Chr17:75753517 [GRCh38]
Chr17:73749598 [GRCh37]
Chr17:17q25.1
benign
NM_000213.5(ITGB4):c.4709-8C>A single nucleotide variant not provided [RCV001583366] Chr17:75756421 [GRCh38]
Chr17:73752502 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000154.2(GALK1):c.336A>G (p.Gly112=) single nucleotide variant Deficiency of galactokinase [RCV001498714] Chr17:75763916 [GRCh38]
Chr17:73759997 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.3794-147C>T single nucleotide variant not provided [RCV001708919] Chr17:75752027 [GRCh38]
Chr17:73748108 [GRCh37]
Chr17:17q25.1
benign
NM_000154.2(GALK1):c.966C>T (p.Cys322=) single nucleotide variant Deficiency of galactokinase [RCV001450769] Chr17:75758351 [GRCh38]
Chr17:73754432 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.147G>A (p.Gln49=) single nucleotide variant Deficiency of galactokinase [RCV001468915] Chr17:75764990 [GRCh38]
Chr17:73761071 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.345G>A (p.Gln115=) single nucleotide variant Deficiency of galactokinase [RCV001499966] Chr17:75763907 [GRCh38]
Chr17:73759988 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.93C>T (p.Ala31=) single nucleotide variant Deficiency of galactokinase [RCV001450721] Chr17:75765044 [GRCh38]
Chr17:73761125 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.594G>C (p.Ala198=) single nucleotide variant Deficiency of galactokinase [RCV001453163] Chr17:75763031 [GRCh38]
Chr17:73759112 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.573T>C (p.Leu191=) single nucleotide variant Deficiency of galactokinase [RCV001482916] Chr17:75763052 [GRCh38]
Chr17:73759133 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.612-4C>G single nucleotide variant Deficiency of galactokinase [RCV001484510] Chr17:75762889 [GRCh38]
Chr17:73758970 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.372C>A (p.Gly124=) single nucleotide variant Deficiency of galactokinase [RCV001464275] Chr17:75763423 [GRCh38]
Chr17:73759504 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.255C>T (p.Pro85=) single nucleotide variant Deficiency of galactokinase [RCV001482134] Chr17:75763997 [GRCh38]
Chr17:73760078 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.216G>A (p.Leu72=) single nucleotide variant Deficiency of galactokinase [RCV001491134] Chr17:75764036 [GRCh38]
Chr17:73760117 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.81G>A (p.Glu27=) single nucleotide variant Deficiency of galactokinase [RCV001491142] Chr17:75765056 [GRCh38]
Chr17:73761137 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.654G>A (p.Leu218=) single nucleotide variant Deficiency of galactokinase [RCV001440132] Chr17:75762843 [GRCh38]
Chr17:73758924 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.297G>A (p.Leu99=) single nucleotide variant Deficiency of galactokinase [RCV001442931] Chr17:75763955 [GRCh38]
Chr17:73760036 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.660G>C (p.Val220=) single nucleotide variant Deficiency of galactokinase [RCV001498295] Chr17:75762837 [GRCh38]
Chr17:73758918 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.900C>T (p.Tyr300=) single nucleotide variant Deficiency of galactokinase [RCV001458970] Chr17:75758493 [GRCh38]
Chr17:73754574 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.408G>A (p.Gly136=) single nucleotide variant Deficiency of galactokinase [RCV001499431] Chr17:75763387 [GRCh38]
Chr17:73759468 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.10T>C (p.Leu4=) single nucleotide variant Deficiency of galactokinase [RCV001432420] Chr17:75765127 [GRCh38]
Chr17:73761208 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.475+7G>C single nucleotide variant Deficiency of galactokinase [RCV001406845] Chr17:75763313 [GRCh38]
Chr17:73759394 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.105G>C (p.Pro35=) single nucleotide variant Deficiency of galactokinase [RCV001415799] Chr17:75765032 [GRCh38]
Chr17:73761113 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.273A>G (p.Pro91=) single nucleotide variant Deficiency of galactokinase [RCV001476727] Chr17:75763979 [GRCh38]
Chr17:73760060 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.231C>A (p.Thr77=) single nucleotide variant Deficiency of galactokinase [RCV001416380] Chr17:75764021 [GRCh38]
Chr17:73760102 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.300G>A (p.Glu100=) single nucleotide variant Deficiency of galactokinase [RCV001468087] Chr17:75763952 [GRCh38]
Chr17:73760033 [GRCh37]
Chr17:17q25.1
likely benign
NM_000154.2(GALK1):c.829C>A (p.Arg277=) single nucleotide variant Deficiency of galactokinase [RCV001402378] Chr17:75758564 [GRCh38]
Chr17:73754645 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4109-265T>C single nucleotide variant not provided [RCV001536435] Chr17:75753500 [GRCh38]
Chr17:73749581 [GRCh37]
Chr17:17q25.1
benign
NC_000017.10:g.(?_73754587_73758319del deletion Deficiency of galactokinase [RCV001377397]   likely pathogenic
NM_000154.2(GALK1):c.67G>T (p.Glu23Ter) single nucleotide variant Deficiency of galactokinase [RCV001390010] Chr17:75765070 [GRCh38]
Chr17:73761151 [GRCh37]
Chr17:17q25.1
pathogenic
NM_000154.2(GALK1):c.166-10C>T single nucleotide variant Deficiency of galactokinase [RCV001477174] Chr17:75764096 [GRCh38]
Chr17:73760177 [GRCh37]
Chr17:17q25.1
likely benign
NM_000213.5(ITGB4):c.4841G>A (p.Gly1614Asp) single nucleotide variant not provided [RCV001755182] Chr17:75756561 [GRCh38]
Chr17:73752642 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.5128G>A (p.Val1710Met) single nucleotide variant not provided [RCV001779557] Chr17:75757017 [GRCh38]
Chr17:73753098 [GRCh37]
Chr17:17q25.1
uncertain significance
NM_000213.5(ITGB4):c.4828C>T (p.Arg1610Ter) single nucleotide variant not provided [RCV001783491] Chr17:75756548 [GRCh38]
Chr17:73752629 [GRCh37]
Chr17:17q25.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4118 AgrOrtholog
COSMIC GALK1 COSMIC
Ensembl Genes ENSG00000108479 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000225614 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000464765 UniProtKB/TrEMBL
  ENSP00000465930 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000468288 UniProtKB/TrEMBL
  ENSP00000468341 UniProtKB/TrEMBL
Ensembl Transcript ENST00000225614 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000586244 UniProtKB/TrEMBL
  ENST00000587707 UniProtKB/TrEMBL
  ENST00000588479 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000592997 UniProtKB/TrEMBL
Gene3D-CATH 3.30.230.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.890 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000108479 GTEx
HGNC ID HGNC:4118 ENTREZGENE
Human Proteome Map GALK1 Human Proteome Map
InterPro Galactokinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactokinase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GalKase_gal-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GHMP_kinase_C_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GHMP_kinase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GHMP_kinase_N_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GHMP_knse_ATP-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mevalonate/galactokinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S5_D2-typ_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S5_D2-typ_fold_subgr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2584 UniProtKB/TrEMBL
NCBI Gene 2584 ENTREZGENE
OMIM 230200 OMIM
  604313 OMIM
PANTHER PTHR10457:SF6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GalKase_gal_bdg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GHMP_kinases_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GHMP_kinases_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28533 PharmGKB
PIRSF Galactokinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS GALCTOKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE GALACTOKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GHMP_KINASES_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54211 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55060 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs gal_kin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E5LAN0_HUMAN UniProtKB/TrEMBL
  GALK1_HUMAN UniProtKB/Swiss-Prot
  K7EII7_HUMAN UniProtKB/TrEMBL
  K7ERJ9_HUMAN UniProtKB/TrEMBL
  K7ERN9_HUMAN UniProtKB/TrEMBL
  P51570 ENTREZGENE
  Q71UH7_HUMAN UniProtKB/TrEMBL
  V9HWE7 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2RC07 UniProtKB/Swiss-Prot
  B4E1G6 UniProtKB/Swiss-Prot