MFSD8 (major facilitator superfamily domain containing 8) - Rat Genome Database

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Gene: MFSD8 (major facilitator superfamily domain containing 8) Homo sapiens
Analyze
Symbol: MFSD8
Name: major facilitator superfamily domain containing 8
RGD ID: 1606119
HGNC Page HGNC:28486
Description: Enables chloride channel activity; fluoride channel activity; and iodide transmembrane transporter activity. Predicted to be involved in chloride transmembrane transport; fluoride transmembrane transport; and iodide transport. Predicted to act upstream of or within several processes, including TORC1 signaling; autophagosome maturation; and regulation of lysosomal protein catabolic process. Located in endosome membrane and lysosomal membrane. Implicated in neuronal ceroid lipofuscinosis 7.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CCMD; ceroid-lipofuscinosis neuronal protein 7; ceroid-lipofuscinosis, neuronal 7, late infantile; ceroid-lipofuscinosis, neuronal 7, late infantile, variant; CLN7; major facilitator superfamily domain-containing protein 8; MGC33302
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384127,917,732 - 127,965,963 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4127,917,799 - 127,966,034 (-)EnsemblGRCh38hg38GRCh38
GRCh374128,838,887 - 128,887,118 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364129,061,027 - 129,106,554 (-)NCBINCBI36Build 36hg18NCBI36
Celera4126,217,913 - 126,268,512 (-)NCBICelera
Cytogenetic Map4q28.2NCBI
HuRef4124,566,671 - 124,619,214 (-)NCBIHuRef
CHM1_14128,815,418 - 128,863,591 (-)NCBICHM1_1
T2T-CHM13v2.04131,220,758 - 131,270,005 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chloride channel complex  (IEA)
endosome  (IEA)
endosome membrane  (IDA,IEA)
lysosomal membrane  (HDA,IBA,IDA,IEA)
lysosome  (IEA)
membrane  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal amplitude of flash visual evoked potentials  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal circulating enzyme concentration or activity  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormality of speech or vocalization  (IAGP)
Abnormality of the nervous system  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Aggressive behavior  (IAGP)
Anxiety  (IAGP)
Apnea  (IAGP)
Aspiration pneumonia  (IAGP)
Astigmatism  (IAGP)
Ataxia  (IAGP)
Atonic seizure  (IAGP)
Atypical behavior  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Blindness  (IAGP)
Brisk reflexes  (IAGP)
Bull's eye maculopathy  (IAGP)
Central scotoma  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Clumsiness  (IAGP)
Cognitive impairment  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Corpus callosum atrophy  (IAGP)
Cortical myoclonus  (IAGP)
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material  (IAGP)
Delayed speech and language development  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Developmental regression  (IAGP)
Difficulty standing  (IAGP)
Disturbance of facial expression  (IAGP)
Dysphagia  (IAGP)
EEG abnormality  (IAGP)
EEG with generalized slow activity  (IAGP)
EEG with generalized slow activity grade 4  (IAGP)
EEG with photoparoxysmal response  (IAGP)
EEG with series of focal spikes  (IAGP)
EEG with spike-wave complexes  (IAGP)
Emotional lability  (IAGP)
Episodic tachypnea  (IAGP)
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material  (IAGP)
Focal T2 hyperintense basal ganglia lesion  (IAGP)
Focal T2 hyperintense thalamic lesion  (IAGP)
Focal tonic seizure  (IAGP)
Focal-onset seizure  (IAGP)
Functional motor deficit  (IAGP)
Gait disturbance  (IAGP)
Generalized myoclonic seizure  (IAGP)
Global developmental delay  (IAGP)
Hallucinations  (IAGP)
High myopia  (IAGP)
Hyperactivity  (IAGP)
Hyperhidrosis  (IAGP)
Inability to walk  (IAGP)
Intellectual disability  (IAGP)
Interictal EEG abnormality  (IAGP)
Intracellular accumulation of autofluorescent lipopigment storage material  (IAGP)
Juvenile onset  (IAGP)
Language impairment  (IAGP)
Large central visual field defect  (IAGP)
Late young adult onset  (IAGP)
Loss of ambulation  (IAGP)
Loss of speech  (IAGP)
Low frustration tolerance  (IAGP)
Macular dystrophy  (IAGP)
Mental deterioration  (IAGP)
Middle age onset  (IAGP)
Motor deterioration  (IAGP)
Motor stereotypy  (IAGP)
Multifocal epileptiform discharges  (IAGP)
Myoclonic seizure  (IAGP)
Myoclonic spasms  (IAGP)
Myoclonus  (IAGP)
Myopia  (IAGP)
Neurodegeneration  (IAGP)
Non-periodic recurrent fever  (IAGP)
Obsessive-compulsive trait  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Parkinsonism  (IAGP)
Perifoveal ring of hyperautofluorescence  (IAGP)
Periventricular white matter hyperintensities  (IAGP)
Pigmentary retinopathy  (IAGP)
Poor fine motor coordination  (IAGP)
Poor motor coordination  (IAGP)
Progressive language deterioration  (IAGP)
Rapidly progressive  (IAGP)
Red-green dyschromatopsia  (IAGP)
Reduced visual acuity  (IAGP)
Retinal degeneration  (IAGP)
Retinal dystrophy  (IAGP)
Retinopathy  (IAGP)
Rod-cone dystrophy  (IAGP)
Seizure  (IAGP)
Sleep abnormality  (IAGP)
Spasticity  (IAGP)
Tachycardia  (IAGP)
Tube feeding  (IAGP)
Typical absence seizure  (IAGP)
Vascular granular osmiophilic material deposition  (IAGP)
Visual impairment  (IAGP)
Visual loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10191125   PMID:11589000   PMID:12477932   PMID:15146197   PMID:16303743   PMID:16344560   PMID:17564970   PMID:17897319   PMID:18029348   PMID:18850119   PMID:19177532   PMID:19201763  
PMID:19277732   PMID:20301334   PMID:20301601   PMID:20826447   PMID:21873635   PMID:24423645   PMID:25227500   PMID:25270050   PMID:25439737   PMID:26186194   PMID:28514442   PMID:28586915  
PMID:29514215   PMID:30144815   PMID:30382371   PMID:31006324   PMID:33226711   PMID:33845483   PMID:33961781   PMID:34048709   PMID:34079125   PMID:34567070   PMID:34910516   PMID:35087090  
PMID:35216386   PMID:35337019   PMID:35457110  


Genomics

Comparative Map Data
MFSD8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384127,917,732 - 127,965,963 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4127,917,799 - 127,966,034 (-)EnsemblGRCh38hg38GRCh38
GRCh374128,838,887 - 128,887,118 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364129,061,027 - 129,106,554 (-)NCBINCBI36Build 36hg18NCBI36
Celera4126,217,913 - 126,268,512 (-)NCBICelera
Cytogenetic Map4q28.2NCBI
HuRef4124,566,671 - 124,619,214 (-)NCBIHuRef
CHM1_14128,815,418 - 128,863,591 (-)NCBICHM1_1
T2T-CHM13v2.04131,220,758 - 131,270,005 (-)NCBIT2T-CHM13v2.0
Mfsd8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39340,772,500 - 40,801,322 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl340,772,538 - 40,801,321 (-)EnsemblGRCm39 Ensembl
GRCm38340,818,065 - 40,846,880 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl340,818,103 - 40,846,886 (-)EnsemblGRCm38mm10GRCm38
MGSCv37340,622,094 - 40,650,776 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36340,914,721 - 40,943,403 (-)NCBIMGSCv36mm8
Celera340,547,784 - 40,576,409 (-)NCBICelera
Cytogenetic Map3BNCBI
cM Map319.55NCBI
Mfsd8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82125,749,994 - 125,784,689 (-)NCBIGRCr8
mRatBN7.22123,822,042 - 123,847,808 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2123,816,614 - 123,857,971 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2130,392,521 - 130,418,283 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02128,504,953 - 128,530,715 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02123,134,093 - 123,159,861 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02127,706,618 - 127,784,129 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2127,699,761 - 127,781,003 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02147,311,814 - 147,387,510 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42127,782,871 - 127,833,148 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12127,732,787 - 127,757,121 (-)NCBI
Celera2118,732,091 - 118,791,325 (-)NCBICelera
Cytogenetic Map2q26NCBI
Mfsd8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542813,519,277 - 13,544,695 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542813,519,285 - 13,548,007 (+)NCBIChiLan1.0ChiLan1.0
MFSD8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23125,687,213 - 125,735,779 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14125,953,454 - 126,002,020 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04120,087,477 - 120,137,550 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14131,391,361 - 131,439,590 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4131,391,361 - 131,439,590 (-)Ensemblpanpan1.1panPan2
MFSD8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11912,905,336 - 13,030,901 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1912,982,394 - 13,020,083 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1913,094,242 - 13,219,682 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01912,995,177 - 13,120,933 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1913,072,372 - 13,110,059 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11912,968,213 - 13,093,641 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01913,253,606 - 13,379,261 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01913,716,168 - 13,841,616 (+)NCBIUU_Cfam_GSD_1.0
Mfsd8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530161,453,182 - 61,542,477 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366422,801,908 - 2,832,830 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366422,745,889 - 2,833,286 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MFSD8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl896,925,081 - 96,972,383 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1896,925,063 - 96,972,390 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28103,791,981 - 103,839,336 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MFSD8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1775,043,740 - 75,096,894 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl775,046,545 - 75,072,258 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603754,178,730 - 54,235,438 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mfsd8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247778,827,851 - 8,877,873 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247778,831,246 - 8,877,881 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MFSD8
822 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001371596.2(MFSD8):c.468_469delinsCC (p.Ala157Pro) indel Neuronal ceroid lipofuscinosis 7 [RCV000001062] Chr4:127942129..127942130 [GRCh38]
Chr4:128863284..128863285 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.1014T>A (p.Ala338=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001494664] Chr4:127921948 [GRCh38]
Chr4:128843103 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.754+200dup duplication not provided [RCV001564631] Chr4:127938582..127938583 [GRCh38]
Chr4:128859737..128859738 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.889A>C (p.Met297Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001302138]|not provided [RCV000522949] Chr4:127930792 [GRCh38]
Chr4:128851947 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.929G>A (p.Gly310Asp) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000001056] Chr4:127930752 [GRCh38]
Chr4:128851907 [GRCh37]
Chr4:4q28.2		 pathogenic|uncertain significance
NM_001371596.2(MFSD8):c.1286G>A (p.Gly429Asp) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000001057] Chr4:127921588 [GRCh38]
Chr4:128842743 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.894T>G (p.Tyr298Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000001058]|not provided [RCV001781154] Chr4:127930787 [GRCh38]
Chr4:128851942 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.362A>G (p.Tyr121Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000001059]|not provided [RCV000188166] Chr4:127943829 [GRCh38]
Chr4:128864984 [GRCh37]
Chr4:4q28.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu) single nucleotide variant Inborn genetic diseases [RCV002316184]|Neuronal ceroid lipofuscinosis 7 [RCV000001060]|Neuronal ceroid lipofuscinosis 7 [RCV002496222]|Neuronal ceroid lipofuscinosis [RCV002222334]|not provided [RCV003137482] Chr4:127921639 [GRCh38]
Chr4:128842794 [GRCh37]
Chr4:4q28.2		 pathogenic|likely pathogenic|uncertain significance
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys) single nucleotide variant Inborn genetic diseases [RCV002371752]|Late-infantile neuronal ceroid lipofuscinosis [RCV001826401]|Neuronal ceroid lipofuscinosis 7 [RCV000001061]|not provided [RCV001781155] Chr4:127930800 [GRCh38]
Chr4:128851955 [GRCh37]
Chr4:4q28.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001371596.2(MFSD8):c.754+2T>A single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001271142]|Macular dystrophy with central cone involvement [RCV001353040]|Neuronal ceroid lipofuscinosis 7 [RCV000056142]|not provided [RCV000188171] Chr4:127938781 [GRCh38]
Chr4:128859936 [GRCh37]
Chr4:4q28.2		 pathogenic|likely pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2		 pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2		 pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3		 pathogenic
GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1 copy number loss See cases [RCV000053321] Chr4:116630862..145429900 [GRCh38]
Chr4:117552018..146351052 [GRCh37]
Chr4:117771466..146570502 [NCBI36]
Chr4:4q26-31.21		 pathogenic
GRCh38/hg38 4q28.1-28.2(chr4:127788856-128114180)x1 copy number loss See cases [RCV000054072] Chr4:127788856..128114180 [GRCh38]
Chr4:128710011..129035335 [GRCh37]
Chr4:128929461..129254785 [NCBI36]
Chr4:4q28.1-28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg) single nucleotide variant Inborn genetic diseases [RCV002312185]|Late-infantile neuronal ceroid lipofuscinosis [RCV001276177]|Neuronal ceroid lipofuscinosis 7 [RCV000456677]|not provided [RCV000675987]|not specified [RCV000117616] Chr4:127921721 [GRCh38]
Chr4:128842876 [GRCh37]
Chr4:4q28.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001371596.2(MFSD8):c.1268C>T (p.Ala423Val) single nucleotide variant Inborn genetic diseases [RCV002312186]|Late-infantile neuronal ceroid lipofuscinosis [RCV001276175]|Neuronal ceroid lipofuscinosis 7 [RCV000367877]|not provided [RCV000675986]|not specified [RCV000117617] Chr4:127921606 [GRCh38]
Chr4:128842761 [GRCh37]
Chr4:4q28.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001371596.2(MFSD8):c.573A>G (p.Thr191=) single nucleotide variant Inborn genetic diseases [RCV002313907]|Late-infantile neuronal ceroid lipofuscinosis [RCV001271143]|Neuronal ceroid lipofuscinosis 7 [RCV001083945]|not provided [RCV000675988]|not specified [RCV000117618] Chr4:127939978 [GRCh38]
Chr4:128861133 [GRCh37]
Chr4:4q28.2		 benign|likely benign|uncertain significance
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp) single nucleotide variant Inborn genetic diseases [RCV002312187]|Late-infantile neuronal ceroid lipofuscinosis [RCV001271147]|Neuronal ceroid lipofuscinosis 7 [RCV000548248]|Neuronal ceroid lipofuscinosis 7 [RCV002505044]|not provided [RCV001705846]|not specified [RCV000186638] Chr4:127957589 [GRCh38]
Chr4:128878744 [GRCh37]
Chr4:4q28.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001371596.2(MFSD8):c.199-8T>C single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001271145]|Neuronal ceroid lipofuscinosis 7 [RCV001079785]|not provided [RCV000675989]|not specified [RCV000126758] Chr4:127944000 [GRCh38]
Chr4:128865155 [GRCh37]
Chr4:4q28.2		 benign|likely benign|uncertain significance
NM_001371596.2(MFSD8):c.553+20C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002055676]|Neuronal ceroid lipofuscinosis 7 [RCV002483252]|not specified [RCV000126759] Chr4:127942025 [GRCh38]
Chr4:128863180 [GRCh37]
Chr4:4q28.2		 benign|likely benign
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=) single nucleotide variant Inborn genetic diseases [RCV002312906]|Late-infantile neuronal ceroid lipofuscinosis [RCV001826792]|Neuronal ceroid lipofuscinosis 7 [RCV000471037]|not provided [RCV003457643]|not specified [RCV000174178] Chr4:127921921 [GRCh38]
Chr4:128843076 [GRCh37]
Chr4:4q28.2		 benign|likely benign
NM_001371596.2(MFSD8):c.1287C>T (p.Gly429=) single nucleotide variant Inborn genetic diseases [RCV002381440]|MFSD8-related condition [RCV003965055]|Neuronal ceroid lipofuscinosis 7 [RCV000864745]|not specified [RCV000126764] Chr4:127921587 [GRCh38]
Chr4:128842742 [GRCh37]
Chr4:4q28.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001371596.2(MFSD8):c.1311C>G (p.Ser437=) single nucleotide variant Inborn genetic diseases [RCV002316390]|Late-infantile neuronal ceroid lipofuscinosis [RCV001831923]|Neuronal ceroid lipofuscinosis 7 [RCV000477277]|Neuronal ceroid lipofuscinosis 7 [RCV002498621]|not specified [RCV000126765] Chr4:127921563 [GRCh38]
Chr4:128842718 [GRCh37]
Chr4:4q28.2		 benign|likely benign|uncertain significance
NM_001371596.2(MFSD8):c.1351-9C>A single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001831924]|Neuronal ceroid lipofuscinosis 7 [RCV000462645]|Retinal dystrophy [RCV001074091]|not specified [RCV000126766] Chr4:127920845 [GRCh38]
Chr4:128842000 [GRCh37]
Chr4:4q28.2		 benign|likely benign|uncertain significance
NM_001371596.2(MFSD8):c.1351-9C>T single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001276174]|Neuronal ceroid lipofuscinosis 7 [RCV000466174]|Neuronal ceroid lipofuscinosis 7 [RCV002498622]|not provided [RCV000675985]|not specified [RCV000126767] Chr4:127920845 [GRCh38]
Chr4:128842000 [GRCh37]
Chr4:4q28.2		 benign|likely benign|uncertain significance
NM_001371596.2(MFSD8):c.153A>G (p.Val51=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002514677]|not specified [RCV000126768] Chr4:127957502 [GRCh38]
Chr4:128878657 [GRCh37]
Chr4:4q28.2		 benign|uncertain significance
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) single nucleotide variant Inborn genetic diseases [RCV002316957]|Late-infantile neuronal ceroid lipofuscinosis [RCV001272733]|MFSD8-related condition [RCV003917467]|Macular dystrophy with central cone involvement [RCV000149771]|Neuronal ceroid lipofuscinosis 7 [RCV001080724]|not provided [RCV000732335]|not specified [RCV002509247] Chr4:127921956 [GRCh38]
Chr4:128843111 [GRCh37]
Chr4:4q28.2		 pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided
NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp) single nucleotide variant Inborn genetic diseases [RCV002314668]|Late-infantile neuronal ceroid lipofuscinosis [RCV001273684]|MFSD8-related condition [RCV003947538]|Neuronal ceroid lipofuscinosis 7 [RCV000461551]|not provided [RCV001721127]|not specified [RCV000180004] Chr4:127939961 [GRCh38]
Chr4:128861116 [GRCh37]
Chr4:4q28.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001371596.2(MFSD8):c.932_935dup (p.Leu313fs) duplication Neuronal ceroid lipofuscinosis 7 [RCV001959054] Chr4:127930745..127930746 [GRCh38]
Chr4:128851900..128851901 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.886G>A (p.Asp296Asn) single nucleotide variant Inborn genetic diseases [RCV002316999]|Late-infantile neuronal ceroid lipofuscinosis [RCV001272735]|Neuronal ceroid lipofuscinosis 7 [RCV000461290]|not provided [RCV000724371] Chr4:127930795 [GRCh38]
Chr4:128851950 [GRCh37]
Chr4:4q28.2		 uncertain significance
GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1 copy number loss See cases [RCV000135316] Chr4:125118620..132773079 [GRCh38]
Chr4:126039775..133694234 [GRCh37]
Chr4:126259225..133913684 [NCBI36]
Chr4:4q28.1-28.3		 pathogenic
GRCh38/hg38 4q28.1-28.2(chr4:127371061-127994046)x1 copy number loss See cases [RCV000137400] Chr4:127371061..127994046 [GRCh38]
Chr4:128292216..128915201 [GRCh37]
Chr4:128511666..129134651 [NCBI36]
Chr4:4q28.1-28.2		 uncertain significance
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1		 pathogenic|likely benign
GRCh38/hg38 4q28.2(chr4:127937074-128141489)x3 copy number gain See cases [RCV000140398] Chr4:127937074..128141489 [GRCh38]
Chr4:128858229..129062644 [GRCh37]
Chr4:129077679..129282094 [NCBI36]
Chr4:4q28.2		 uncertain significance
GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1 copy number loss See cases [RCV000143207] Chr4:117351881..133565667 [GRCh38]
Chr4:118273037..134486822 [GRCh37]
Chr4:118492485..134706272 [NCBI36]
Chr4:4q26-28.3		 pathogenic
NM_001371596.2(MFSD8):c.1102G>C (p.Asp368His) single nucleotide variant Macular dystrophy with central cone involvement [RCV000149775]|Neuronal ceroid lipofuscinosis 7 [RCV000149774] Chr4:127921860 [GRCh38]
Chr4:128843015 [GRCh37]
Chr4:4q28.2		 pathogenic|not provided
NM_001371596.2(MFSD8):c.863+3_863+4insT insertion Neuronal ceroid lipofuscinosis 7 [RCV000149776] Chr4:127932981..127932982 [GRCh38]
Chr4:128854136..128854137 [GRCh37]
Chr4:4q28.2		 pathogenic|not provided
NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter) single nucleotide variant Inborn genetic diseases [RCV002453475]|Late-infantile neuronal ceroid lipofuscinosis [RCV001276178]|Macular dystrophy with central cone involvement [RCV000149773]|Neuronal ceroid lipofuscinosis 7 [RCV000149772]|Neuronal ceroid lipofuscinosis 7 [RCV002483295]|not provided [RCV000481423] Chr4:127921733 [GRCh38]
Chr4:128842888 [GRCh37]
Chr4:4q28.2		 pathogenic|not provided
NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter) single nucleotide variant Inborn genetic diseases [RCV002390318]|Neuronal ceroid lipofuscinosis 7 [RCV000149777]|Neuronal ceroid lipofuscinosis 7 [RCV000763521]|not provided [RCV000256110] Chr4:127920743 [GRCh38]
Chr4:128841898 [GRCh37]
Chr4:4q28.2		 pathogenic|likely pathogenic
NM_001371596.2(MFSD8):c.935T>C (p.Ile312Thr) single nucleotide variant Inborn genetic diseases [RCV002517099]|Neuronal ceroid lipofuscinosis 7 [RCV000662085]|not specified [RCV000194054] Chr4:127930746 [GRCh38]
Chr4:128851901 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.656T>C (p.Phe219Ser) single nucleotide variant Inborn genetic diseases [RCV002362925]|Late-infantile neuronal ceroid lipofuscinosis [RCV001273682]|Neuronal ceroid lipofuscinosis 7 [RCV000540171]|not provided [RCV000723990] Chr4:127939895 [GRCh38]
Chr4:128861050 [GRCh37]
Chr4:4q28.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001371596.2(MFSD8):c.863+4A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002515300]|not provided [RCV000180705] Chr4:127932981 [GRCh38]
Chr4:128854136 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.63-4del deletion Late-infantile neuronal ceroid lipofuscinosis [RCV001271148]|Neuronal ceroid lipofuscinosis 7 [RCV001082199]|not provided [RCV000724168] Chr4:127957596 [GRCh38]
Chr4:128878751 [GRCh37]
Chr4:4q28.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152778.4(MFSD8):c.-58T>A single nucleotide variant not specified [RCV000188155] Chr4:127965191 [GRCh38]
Chr4:128886346 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1350G>A (p.Gln450=) single nucleotide variant not provided [RCV002294072]|not specified [RCV000188158] Chr4:127921524 [GRCh38]
Chr4:128842679 [GRCh37]
Chr4:4q28.2		 likely benign|not provided
NM_152778.4(MFSD8):c.-75-2A>T single nucleotide variant not provided [RCV000188159] Chr4:127965210 [GRCh38]
Chr4:128886365 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_152778.2(MFSD8):c.4G>T (p.Ala2Ser) single nucleotide variant not provided [RCV000188161] Chr4:127965130 [GRCh38]
Chr4:128886285 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.211G>A (p.Ala71Thr) single nucleotide variant not provided [RCV000188163] Chr4:127943980 [GRCh38]
Chr4:128865135 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.442A>G (p.Asn148Asp) single nucleotide variant not provided [RCV000188168] Chr4:127942156 [GRCh38]
Chr4:128863311 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.832G>A (p.Val278Met) single nucleotide variant Inborn genetic diseases [RCV002433848]|Late-infantile neuronal ceroid lipofuscinosis [RCV001272736]|Neuronal ceroid lipofuscinosis 7 [RCV000695060]|not provided [RCV000188174] Chr4:127933016 [GRCh38]
Chr4:128854171 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.940G>T (p.Ala314Ser) single nucleotide variant not provided [RCV000188177] Chr4:127930741 [GRCh38]
Chr4:128851896 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.998+4A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000529743]|not provided [RCV000188178] Chr4:127930679 [GRCh38]
Chr4:128851834 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1043G>C (p.Trp348Ser) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001276179]|not provided [RCV000188180] Chr4:127921919 [GRCh38]
Chr4:128843074 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_152778.2(MFSD8):c.1438G>A (p.Gly480Arg) single nucleotide variant not provided [RCV000188185] Chr4:127920749 [GRCh38]
Chr4:128841904 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.1535G>A (p.Arg512Lys) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001272729]|Neuronal ceroid lipofuscinosis 7 [RCV001306456]|not provided [RCV000188186] Chr4:127920652 [GRCh38]
Chr4:128841807 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.291G>C (p.Trp97Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000234587]|not provided [RCV000188189] Chr4:127943900 [GRCh38]
Chr4:128865055 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.895G>T (p.Ala299Ser) single nucleotide variant not provided [RCV000188192] Chr4:127930786 [GRCh38]
Chr4:128851941 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_152778.2(MFSD8):c.1351G>T (p.Gly451Cys) single nucleotide variant not specified [RCV000188194] Chr4:127920836 [GRCh38]
Chr4:128841991 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.217dup (p.Thr73fs) duplication Neuronal ceroid lipofuscinosis 7 [RCV001390026]|not provided [RCV000188195] Chr4:127943973..127943974 [GRCh38]
Chr4:128865128..128865129 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.155-15T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002054213]|not specified [RCV000188151] Chr4:127949862 [GRCh38]
Chr4:128871017 [GRCh37]
Chr4:4q28.2		 benign|likely benign
NM_001371596.2(MFSD8):c.277A>G (p.Ile93Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001857624]|not specified [RCV000188156] Chr4:127943914 [GRCh38]
Chr4:128865069 [GRCh37]
Chr4:4q28.2		 likely benign|uncertain significance
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu) single nucleotide variant Inborn genetic diseases [RCV002317122]|Neuronal ceroid lipofuscinosis 7 [RCV001086515]|not provided [RCV000725884] Chr4:127943985 [GRCh38]
Chr4:128865140 [GRCh37]
Chr4:4q28.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001371596.2(MFSD8):c.34C>T (p.Pro12Ser) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001828002]|Neuronal ceroid lipofuscinosis 7 [RCV001852475]|not provided [RCV000188162] Chr4:127965100 [GRCh38]
Chr4:128886255 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.343G>A (p.Val115Met) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001828003]|Neuronal ceroid lipofuscinosis 7 [RCV000640468]|Neuronal ceroid lipofuscinosis 7 [RCV000768269]|not provided [RCV000188164] Chr4:127943848 [GRCh38]
Chr4:128865003 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.350C>G (p.Ala117Gly) single nucleotide variant Inborn genetic diseases [RCV002336498]|Neuronal ceroid lipofuscinosis 7 [RCV002516998]|not provided [RCV000188165] Chr4:127943841 [GRCh38]
Chr4:128864996 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.599G>A (p.Trp200Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002516999]|not provided [RCV000188167] Chr4:127939952 [GRCh38]
Chr4:128861107 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.590G>T (p.Gly197Val) single nucleotide variant not provided [RCV000188169] Chr4:127939961 [GRCh38]
Chr4:128861116 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.652G>A (p.Ala218Thr) single nucleotide variant Inborn genetic diseases [RCV002362983]|Late-infantile neuronal ceroid lipofuscinosis [RCV001833121]|Neuronal ceroid lipofuscinosis 7 [RCV001244551]|Neuronal ceroid lipofuscinosis 7 [RCV002485272]|not provided [RCV000188170] Chr4:127939899 [GRCh38]
Chr4:128861054 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.677T>C (p.Ile226Thr) single nucleotide variant Inborn genetic diseases [RCV002311276]|Neuronal ceroid lipofuscinosis 7 [RCV000765753]|Neuronal ceroid lipofuscinosis 7 [RCV000823577]|not provided [RCV000188172] Chr4:127939874 [GRCh38]
Chr4:128861029 [GRCh37]
Chr4:4q28.2		 likely benign|uncertain significance
NM_001371596.2(MFSD8):c.706C>T (p.Arg236Cys) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001833122]|Neuronal ceroid lipofuscinosis 7 [RCV000808486]|not provided [RCV000188173] Chr4:127938831 [GRCh38]
Chr4:128859986 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.863C>T (p.Thr288Ile) single nucleotide variant Inborn genetic diseases [RCV002517001]|Late-infantile neuronal ceroid lipofuscinosis [RCV001828004]|Neuronal ceroid lipofuscinosis 7 [RCV000764533]|Neuronal ceroid lipofuscinosis 7 [RCV002517000]|not provided [RCV000188175] Chr4:127932985 [GRCh38]
Chr4:128854140 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.934A>G (p.Ile312Val) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001828005]|Neuronal ceroid lipofuscinosis 7 [RCV000821399]|not provided [RCV000188176] Chr4:127930747 [GRCh38]
Chr4:128851902 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1136T>C (p.Phe379Ser) single nucleotide variant Inborn genetic diseases [RCV002321757]|Late-infantile neuronal ceroid lipofuscinosis [RCV001272731]|Neuronal ceroid lipofuscinosis 7 [RCV000474440]|Neuronal ceroid lipofuscinosis 7 [RCV002500574]|Seizure [RCV001256101]|not provided [RCV000188181]|not specified [RCV003155112] Chr4:127921738 [GRCh38]
Chr4:128842893 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1180G>A (p.Asp394Asn) single nucleotide variant not provided [RCV000188182] Chr4:127921694 [GRCh38]
Chr4:128842849 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1262C>T (p.Thr421Ile) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001833123]|Neuronal ceroid lipofuscinosis 7 [RCV000705254]|not provided [RCV000188183] Chr4:127921612 [GRCh38]
Chr4:128842767 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1408A>G (p.Met470Val) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001833124]|Neuronal ceroid lipofuscinosis 7 [RCV000693756]|not provided [RCV000188184]|not specified [RCV002228826] Chr4:127920779 [GRCh38]
Chr4:128841934 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.115A>T (p.Ile39Phe) single nucleotide variant Inborn genetic diseases [RCV002317123]|Late-infantile neuronal ceroid lipofuscinosis [RCV001833125]|Neuronal ceroid lipofuscinosis 7 [RCV000458891]|Neuronal ceroid lipofuscinosis 7 [RCV002485273]|not provided [RCV000188187] Chr4:127957540 [GRCh38]
Chr4:128878695 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.-21C>T single nucleotide variant not provided [RCV000188188] Chr4:127965154 [GRCh38]
Chr4:128886309 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.699-5T>G single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001828006]|Neuronal ceroid lipofuscinosis 7 [RCV000817422] Chr4:127938843 [GRCh38]
Chr4:128859998 [GRCh37]
Chr4:4q28.2		 likely pathogenic|uncertain significance
NM_001371596.2(MFSD8):c.1174G>A (p.Glu392Lys) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001828007]|Neuronal ceroid lipofuscinosis 7 [RCV002510566]|not provided [RCV000188193] Chr4:127921700 [GRCh38]
Chr4:128842855 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1429G>A (p.Ala477Thr) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001835736]|Neuronal ceroid lipofuscinosis 7 [RCV000227897] Chr4:127920758 [GRCh38]
Chr4:128841913 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.268G>C (p.Ala90Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000677623] Chr4:127943923 [GRCh38]
Chr4:128865078 [GRCh37]
Chr4:4q28.2		 uncertain significance
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2		 pathogenic
NM_001371596.2(MFSD8):c.*1515T>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000273423] Chr4:127919115 [GRCh38]
Chr4:128840270 [GRCh37]
Chr4:4q28.2		 benign|uncertain significance
NM_001371596.2(MFSD8):c.*463A>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000284581] Chr4:127920167 [GRCh38]
Chr4:128841322 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001358451.3(ABHD18):c.-18+315C>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000284780]|not provided [RCV001707671] Chr4:127965921 [GRCh38]
Chr4:128887076 [GRCh37]
Chr4:4q28.2		 benign|likely benign
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000496155]|Neuronal ceroid lipofuscinosis [RCV002222533] Chr4:127943775 [GRCh38]
Chr4:128864930 [GRCh37]
Chr4:4q28.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001371596.2(MFSD8):c.*1058A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000277094] Chr4:127919572 [GRCh38]
Chr4:128840727 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.592G>A (p.Val198Met) single nucleotide variant Inborn genetic diseases [RCV002358404]|Late-infantile neuronal ceroid lipofuscinosis [RCV001273683]|Neuronal ceroid lipofuscinosis 7 [RCV000551742]|not provided [RCV000726839] Chr4:127939959 [GRCh38]
Chr4:128861114 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*1794G>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000299311] Chr4:127918836 [GRCh38]
Chr4:128839991 [GRCh37]
Chr4:4q28.2		 benign|likely benign
NM_001371596.2(MFSD8):c.*2405G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000399822] Chr4:127918225 [GRCh38]
Chr4:128839380 [GRCh37]
Chr4:4q28.2		 benign|likely benign
NM_001371596.2(MFSD8):c.1516C>G (p.Leu506Val) single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000336514]|Neuronal ceroid lipofuscinosis 7 [RCV002523463] Chr4:127920671 [GRCh38]
Chr4:128841826 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*1603C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000356374] Chr4:127919027 [GRCh38]
Chr4:128840182 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1205C>T (p.Ser402Leu) single nucleotide variant Inborn genetic diseases [RCV002314069]|Late-infantile neuronal ceroid lipofuscinosis [RCV001276176]|Neuronal ceroid lipofuscinosis 7 [RCV000402254]|not provided [RCV000727610] Chr4:127921669 [GRCh38]
Chr4:128842824 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*2613T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000302087] Chr4:127918017 [GRCh38]
Chr4:128839172 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*2465A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000340368] Chr4:127918165 [GRCh38]
Chr4:128839320 [GRCh37]
Chr4:4q28.2		 benign|likely benign
NM_001371596.2(MFSD8):c.*533G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000290581] Chr4:127920097 [GRCh38]
Chr4:128841252 [GRCh37]
Chr4:4q28.2		 benign|likely benign
NM_001371596.2(MFSD8):c.*2386del deletion Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000305544] Chr4:127918244 [GRCh38]
Chr4:128839399 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.421T>C (p.Leu141=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000321495] Chr4:127943770 [GRCh38]
Chr4:128864925 [GRCh37]
Chr4:4q28.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001371596.2(MFSD8):c.*414C>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000341970] Chr4:127920216 [GRCh38]
Chr4:128841371 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*1161A>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000387755] Chr4:127919469 [GRCh38]
Chr4:128840624 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*2689T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000346342] Chr4:127917941 [GRCh38]
Chr4:128839096 [GRCh37]
Chr4:4q28.2		 likely benign|uncertain significance
NM_001371596.2(MFSD8):c.*492A>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000329151] Chr4:127920138 [GRCh38]
Chr4:128841293 [GRCh37]
Chr4:4q28.2		 likely benign|uncertain significance
NM_001371596.2(MFSD8):c.1107G>C (p.Leu369Phe) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001828342]|Neuronal ceroid lipofuscinosis 7 [RCV000544218]|Neuronal ceroid lipofuscinosis 7 [RCV002487529]|not provided [RCV000412876] Chr4:127921767 [GRCh38]
Chr4:128842922 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.37C>G (p.Leu13Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000372817] Chr4:127965097 [GRCh38]
Chr4:128886252 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*258A>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000395770]|not provided [RCV001562672] Chr4:127920372 [GRCh38]
Chr4:128841527 [GRCh37]
Chr4:4q28.2		 likely benign|uncertain significance
NM_001371596.2(MFSD8):c.*2214A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000260445] Chr4:127918416 [GRCh38]
Chr4:128839571 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.230G>T (p.Gly77Val) single nucleotide variant not provided [RCV000343125] Chr4:127943961 [GRCh38]
Chr4:128865116 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*469dup duplication Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000376790] Chr4:127920160..127920161 [GRCh38]
Chr4:128841315..128841316 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1061dup (p.Leu354fs) duplication not provided [RCV000371753] Chr4:127921900..127921901 [GRCh38]
Chr4:128843055..128843056 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.*208C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000278711] Chr4:127920422 [GRCh38]
Chr4:128841577 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1006G>A (p.Glu336Lys) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001833332]|Neuronal ceroid lipofuscinosis 7 [RCV001219362]|not provided [RCV000334238] Chr4:127921956 [GRCh38]
Chr4:128843111 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.198+36A>G single nucleotide variant not provided [RCV001546547] Chr4:127949768 [GRCh38]
Chr4:128870923 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.198+43T>G single nucleotide variant not provided [RCV001571925] Chr4:127949761 [GRCh38]
Chr4:128870916 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1036del (p.Val346fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV000531910]|not provided [RCV001009177] Chr4:127921926 [GRCh38]
Chr4:128843081 [GRCh37]
Chr4:4q28.2		 pathogenic|likely pathogenic
NM_001371596.2(MFSD8):c.440-258G>A single nucleotide variant not provided [RCV001547794] Chr4:127942416 [GRCh38]
Chr4:128863571 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.*1471T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000330962] Chr4:127919159 [GRCh38]
Chr4:128840314 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*695A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000382712] Chr4:127919935 [GRCh38]
Chr4:128841090 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.63-4C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001482782] Chr4:127957596 [GRCh38]
Chr4:128878751 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.*2270G>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000353357] Chr4:127918360 [GRCh38]
Chr4:128839515 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*839C>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000325160] Chr4:127919791 [GRCh38]
Chr4:128840946 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.704A>T (p.His235Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000327332] Chr4:127938833 [GRCh38]
Chr4:128859988 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*2683C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000396699] Chr4:127917947 [GRCh38]
Chr4:128839102 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.351C>T (p.Ala117=) single nucleotide variant not specified [RCV000600755] Chr4:127943840 [GRCh38]
Chr4:128864995 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001358451.3(ABHD18):c.-18+291C>T single nucleotide variant not specified [RCV000600700] Chr4:127965897 [GRCh38]
Chr4:128887052 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.975A>G (p.Leu325=) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001835869]|Neuronal ceroid lipofuscinosis 7 [RCV001078494]|not provided [RCV000591840] Chr4:127930706 [GRCh38]
Chr4:128851861 [GRCh37]
Chr4:4q28.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000004.11:g.(?_128851818)_(128886308_?)dup duplication Neuronal ceroid lipofuscinosis 7 [RCV000816639] Chr4:127930663..127965153 [GRCh38]
Chr4:128851818..128886308 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.154+2dup duplication not provided [RCV000599401] Chr4:127957498..127957499 [GRCh38]
Chr4:128878653..128878654 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.553+1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003600384]|not provided [RCV000599516] Chr4:127942044 [GRCh38]
Chr4:128863199 [GRCh37]
Chr4:4q28.2		 pathogenic|likely pathogenic
NM_001371596.2(MFSD8):c.1351-3C>T single nucleotide variant not specified [RCV000604976] Chr4:127920839 [GRCh38]
Chr4:128841994 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1102+13A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001855256]|not specified [RCV000605503] Chr4:127921847 [GRCh38]
Chr4:128843002 [GRCh37]
Chr4:4q28.2		 likely benign|uncertain significance
NM_001371596.2(MFSD8):c.863+1G>A single nucleotide variant Inborn genetic diseases [RCV002529305]|Late-infantile neuronal ceroid lipofuscinosis [RCV000616705]|Neuronal ceroid lipofuscinosis 7 [RCV001067482]|not provided [RCV001783107] Chr4:127932984 [GRCh38]
Chr4:128854139 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.689C>T (p.Ala230Val) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001829795]|Neuronal ceroid lipofuscinosis 7 [RCV000640465] Chr4:127939862 [GRCh38]
Chr4:128861017 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.401A>G (p.Tyr134Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000640466] Chr4:127943790 [GRCh38]
Chr4:128864945 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.999G>C (p.Lys333Asn) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001835890]|Neuronal ceroid lipofuscinosis 7 [RCV000640467] Chr4:127921963 [GRCh38]
Chr4:128843118 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.813C>T (p.Ala271=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000640471] Chr4:127933035 [GRCh38]
Chr4:128854190 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.270T>A (p.Ala90=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000640472]|not provided [RCV001619818] Chr4:127943921 [GRCh38]
Chr4:128865076 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.5C>T (p.Ala2Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000768266]|Neuronal ceroid lipofuscinosis 7 [RCV002536600] Chr4:127965129 [GRCh38]
Chr4:128886284 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.66A>G (p.Glu22=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001402734]|not provided [RCV000728730] Chr4:127957589 [GRCh38]
Chr4:128878744 [GRCh37]
Chr4:4q28.2		 likely benign|uncertain significance
NM_001371596.2(MFSD8):c.998+1G>A single nucleotide variant not provided [RCV000594455] Chr4:127930682 [GRCh38]
Chr4:128851837 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.15G>A (p.Arg5=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001472943]|not provided [RCV000732646] Chr4:127965119 [GRCh38]
Chr4:128886274 [GRCh37]
Chr4:4q28.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001371596.2(MFSD8):c.1351-2A>G single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001833502]|not provided [RCV000413554] Chr4:127920838 [GRCh38]
Chr4:128841993 [GRCh37]
Chr4:4q28.2		 likely pathogenic
GRCh37/hg19 4q28.2(chr4:128807668-128840676)x1 copy number loss See cases [RCV000446386] Chr4:128807668..128840676 [GRCh37]
Chr4:4q28.2		 likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q28.2(chr4:128850522-128927701)x1 copy number loss See cases [RCV000447636] Chr4:128850522..128927701 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_152778.4(MFSD8):c.-68C>T single nucleotide variant not specified [RCV000441264] Chr4:127965201 [GRCh38]
Chr4:128886356 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.529G>A (p.Ala177Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000697944]|not provided [RCV003222106] Chr4:127942069 [GRCh38]
Chr4:128863224 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1230C>T (p.Tyr410=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003600376]|not provided [RCV001703630] Chr4:127921644 [GRCh38]
Chr4:128842799 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.864-6dup duplication Neuronal ceroid lipofuscinosis 7 [RCV000553600]|not provided [RCV001531595] Chr4:127930822..127930823 [GRCh38]
Chr4:128851977..128851978 [GRCh37]
Chr4:4q28.2		 benign|likely benign
NM_001371596.2(MFSD8):c.999G>A (p.Lys333=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003223403]|not specified [RCV000418664] Chr4:127921963 [GRCh38]
Chr4:128843118 [GRCh37]
Chr4:4q28.2		 likely benign|uncertain significance
NM_001371596.2(MFSD8):c.-18C>T single nucleotide variant not specified [RCV000428462] Chr4:127965151 [GRCh38]
Chr4:128886306 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.342C>T (p.Ser114=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000864957]|not specified [RCV000442476] Chr4:127943849 [GRCh38]
Chr4:128865004 [GRCh37]
Chr4:4q28.2		 likely benign
NM_152778.4(MFSD8):c.-58T>C single nucleotide variant not specified [RCV000443090] Chr4:127965191 [GRCh38]
Chr4:128886346 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1393C>A (p.Arg465=) single nucleotide variant not provided [RCV001720215] Chr4:127920794 [GRCh38]
Chr4:128841949 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1320A>G (p.Leu440=) single nucleotide variant Inborn genetic diseases [RCV002379299]|Neuronal ceroid lipofuscinosis 7 [RCV000556763]|not provided [RCV001718847] Chr4:127921554 [GRCh38]
Chr4:128842709 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.544C>T (p.Leu182=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001447990]|not specified [RCV000419691] Chr4:127942054 [GRCh38]
Chr4:128863209 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1035C>T (p.Ile345=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002059651]|not provided [RCV001721286] Chr4:127921927 [GRCh38]
Chr4:128843082 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.154+19T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002521660]|not specified [RCV000433490] Chr4:127957482 [GRCh38]
Chr4:128878637 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.554-9C>G single nucleotide variant not specified [RCV000426737] Chr4:127940006 [GRCh38]
Chr4:128861161 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.435A>C (p.Gly145=) single nucleotide variant Inborn genetic diseases [RCV002328937]|MFSD8-related condition [RCV003902503]|Neuronal ceroid lipofuscinosis 7 [RCV000549828]|not specified [RCV000423565] Chr4:127943756 [GRCh38]
Chr4:128864911 [GRCh37]
Chr4:4q28.2		 likely benign
NC_000004.11:g.(?_128851838)_(128886363_?)dup duplication Neuronal ceroid lipofuscinosis 7 [RCV000466481] Chr4:127930683..127965208 [GRCh38]
Chr4:128851838..128886363 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.316C>T (p.Pro106Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000467129] Chr4:127943875 [GRCh38]
Chr4:128865030 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.840A>G (p.Leu280=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001426888] Chr4:127933008 [GRCh38]
Chr4:128854163 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.63-16del deletion Neuronal ceroid lipofuscinosis 7 [RCV002063786]|not specified [RCV000482940] Chr4:127957608 [GRCh38]
Chr4:128878763 [GRCh37]
Chr4:4q28.2		 benign|likely benign
NM_001371596.2(MFSD8):c.155-9del deletion Neuronal ceroid lipofuscinosis 7 [RCV001393505] Chr4:127949856 [GRCh38]
Chr4:128871011 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) single nucleotide variant Inborn genetic diseases [RCV002313243]|Macular dystrophy with central cone involvement [RCV001542748]|Neuronal ceroid lipofuscinosis 7 [RCV000805545]|Neuronal ceroid lipofuscinosis [RCV001805096]|Retinal dystrophy [RCV000505174]|Retinitis pigmentosa [RCV000504782]|Severe early-childhood-onset retinal dystrophy [RCV000505013]|not provided [RCV000480079] Chr4:127920826 [GRCh38]
Chr4:128841981 [GRCh37]
Chr4:4q28.2		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001371596.2(MFSD8):c.115A>G (p.Ile39Val) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001273685]|Neuronal ceroid lipofuscinosis 7 [RCV001239875]|not provided [RCV000498574] Chr4:127957540 [GRCh38]
Chr4:128878695 [GRCh37]
Chr4:4q28.2		 uncertain significance
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
NM_001371596.2(MFSD8):c.776T>A (p.Val259Asp) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000528672] Chr4:127933072 [GRCh38]
Chr4:128854227 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1495C>T (p.Leu499=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002531630]|not specified [RCV000603637] Chr4:127920692 [GRCh38]
Chr4:128841847 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.78A>G (p.Leu26=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000541265] Chr4:127957577 [GRCh38]
Chr4:128878732 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV000595831] Chr4:127965133 [GRCh38]
Chr4:128886288 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.1322A>G (p.Tyr441Cys) single nucleotide variant Inborn genetic diseases [RCV002386060]|Late-infantile neuronal ceroid lipofuscinosis [RCV001835030]|Neuronal ceroid lipofuscinosis 7 [RCV000640470] Chr4:127921552 [GRCh38]
Chr4:128842707 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.440-2A>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000533734] Chr4:127942160 [GRCh38]
Chr4:128863315 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.999-12G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002065438]|not specified [RCV000609815] Chr4:127921975 [GRCh38]
Chr4:128843130 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1470A>G (p.Gly490=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001145207] Chr4:127920717 [GRCh38]
Chr4:128841872 [GRCh37]
Chr4:4q28.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001371596.2(MFSD8):c.199-11T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002064367]|not provided [RCV001719096] Chr4:127944003 [GRCh38]
Chr4:128865158 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.357C>T (p.Cys119=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002062007]|not provided [RCV000596886] Chr4:127943834 [GRCh38]
Chr4:128864989 [GRCh37]
Chr4:4q28.2		 likely benign|uncertain significance
NM_001371596.2(MFSD8):c.1103-10_1103-6del microsatellite Neuronal ceroid lipofuscinosis 7 [RCV001348678]|not provided [RCV001704714] Chr4:127921777..127921781 [GRCh38]
Chr4:128842932..128842936 [GRCh37]
Chr4:4q28.2		 likely benign|uncertain significance
NM_001371596.2(MFSD8):c.1102+14T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003600387]|not specified [RCV000613554] Chr4:127921846 [GRCh38]
Chr4:128843001 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.755-4A>G single nucleotide variant MFSD8-related condition [RCV003965281]|Neuronal ceroid lipofuscinosis 7 [RCV001487602]|not specified [RCV000608403] Chr4:127933097 [GRCh38]
Chr4:128854252 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.439+16T>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002063325]|not specified [RCV000611800] Chr4:127943736 [GRCh38]
Chr4:128864891 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1513A>C (p.Arg505=) single nucleotide variant Inborn genetic diseases [RCV002314172]|Neuronal ceroid lipofuscinosis 7 [RCV001434018]|not specified [RCV000605047] Chr4:127920674 [GRCh38]
Chr4:128841829 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.961G>A (p.Val321Ile) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001829793]|Neuronal ceroid lipofuscinosis 7 [RCV000640463] Chr4:127930720 [GRCh38]
Chr4:128851875 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.151G>T (p.Val51Leu) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001829794]|Neuronal ceroid lipofuscinosis 7 [RCV000640464] Chr4:127957504 [GRCh38]
Chr4:128878659 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.809T>C (p.Val270Ala) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000640469] Chr4:127933039 [GRCh38]
Chr4:128854194 [GRCh37]
Chr4:4q28.2		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001371596.2(MFSD8):c.18C>G (p.Asn6Lys) single nucleotide variant Inborn genetic diseases [RCV002544709]|Late-infantile neuronal ceroid lipofuscinosis [RCV001830479]|Neuronal ceroid lipofuscinosis 7 [RCV000684990] Chr4:127965116 [GRCh38]
Chr4:128886271 [GRCh37]
Chr4:4q28.2		 uncertain significance
GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1 copy number loss not provided [RCV000682448] Chr4:116307857..129302960 [GRCh37]
Chr4:4q26-28.2		 pathogenic
GRCh37/hg19 4q28.2(chr4:128850788-129087108)x3 copy number gain not provided [RCV000682456] Chr4:128850788..129087108 [GRCh37]
Chr4:4q28.2		 uncertain significance
Single allele deletion not provided [RCV000678021] Chr4:126549693..141313049 [GRCh37]
Chr4:4q28.1-31.1		 pathogenic
NM_001371596.2(MFSD8):c.37C>T (p.Leu13Phe) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001829904]|Neuronal ceroid lipofuscinosis 7 [RCV000688569] Chr4:127965097 [GRCh38]
Chr4:128886252 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.965T>C (p.Val322Ala) single nucleotide variant Inborn genetic diseases [RCV002314589] Chr4:127930716 [GRCh38]
Chr4:128851871 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1086del (p.Ile364fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV000702031] Chr4:127921876 [GRCh38]
Chr4:128843031 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.1403G>A (p.Gly468Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001214251]|not provided [RCV000712299] Chr4:127920784 [GRCh38]
Chr4:128841939 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1066C>A (p.Pro356Thr) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001825394]|Neuronal ceroid lipofuscinosis 7 [RCV000705218] Chr4:127921896 [GRCh38]
Chr4:128843051 [GRCh37]
Chr4:4q28.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001371596.2(MFSD8):c.1475T>C (p.Ile492Thr) single nucleotide variant Inborn genetic diseases [RCV002544926]|Late-infantile neuronal ceroid lipofuscinosis [RCV001276173]|Neuronal ceroid lipofuscinosis 7 [RCV000691906]|not provided [RCV000734485] Chr4:127920712 [GRCh38]
Chr4:128841867 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1445G>A (p.Arg482Gln) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001830503]|Neuronal ceroid lipofuscinosis 7 [RCV000690525] Chr4:127920742 [GRCh38]
Chr4:128841897 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.373C>T (p.His125Tyr) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001825364]|Neuronal ceroid lipofuscinosis 7 [RCV000696111] Chr4:127943818 [GRCh38]
Chr4:128864973 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.64G>T (p.Glu22Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000696434] Chr4:127957591 [GRCh38]
Chr4:128878746 [GRCh37]
Chr4:4q28.2		 pathogenic
NC_000004.11:g.(?_128804417)_(129131208_?)dup duplication Neuronal ceroid lipofuscinosis 7 [RCV000708382] Chr4:127883262..128210053 [GRCh38]
Chr4:128804417..129131208 [GRCh37]
Chr4:4q28.1-28.2		 uncertain significance
NM_001371596.2(MFSD8):c.707G>A (p.Arg236His) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001272737]|Neuronal ceroid lipofuscinosis 7 [RCV000706330] Chr4:127938830 [GRCh38]
Chr4:128859985 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.525T>A (p.Cys175Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000715016] Chr4:127942073 [GRCh38]
Chr4:128863228 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.33G>A (p.Glu11=) single nucleotide variant Inborn genetic diseases [RCV002314453]|Neuronal ceroid lipofuscinosis 7 [RCV001433702] Chr4:127965101 [GRCh38]
Chr4:128886256 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.104G>A (p.Arg35Gln) single nucleotide variant Inborn genetic diseases [RCV002313681]|Late-infantile neuronal ceroid lipofuscinosis [RCV001830591]|Neuronal ceroid lipofuscinosis 7 [RCV001862043]|not specified [RCV002249438] Chr4:127957551 [GRCh38]
Chr4:128878706 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.288A>G (p.Leu96=) single nucleotide variant Inborn genetic diseases [RCV002318211]|Neuronal ceroid lipofuscinosis 7 [RCV001148068] Chr4:127943903 [GRCh38]
Chr4:128865058 [GRCh37]
Chr4:4q28.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001371596.2(MFSD8):c.235G>T (p.Val79Phe) single nucleotide variant Inborn genetic diseases [RCV002318662]|Neuronal ceroid lipofuscinosis 7 [RCV002533032] Chr4:127943956 [GRCh38]
Chr4:128865111 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.754+1G>T single nucleotide variant Inborn genetic diseases [RCV002318663]|Neuronal ceroid lipofuscinosis 7 [RCV002534929] Chr4:127938782 [GRCh38]
Chr4:128859937 [GRCh37]
Chr4:4q28.2		 pathogenic|likely pathogenic
NM_001371596.2(MFSD8):c.576C>G (p.Phe192Leu) single nucleotide variant Inborn genetic diseases [RCV002317574]|Late-infantile neuronal ceroid lipofuscinosis [RCV001825441]|Neuronal ceroid lipofuscinosis 7 [RCV000803180]|not provided [RCV001585682] Chr4:127939975 [GRCh38]
Chr4:128861130 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.978A>G (p.Gly326=) single nucleotide variant Inborn genetic diseases [RCV002317616]|Neuronal ceroid lipofuscinosis 7 [RCV000866824]|not provided [RCV001571258] Chr4:127930703 [GRCh38]
Chr4:128851858 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.386C>T (p.Ser129Phe) single nucleotide variant Inborn genetic diseases [RCV002318215]|Late-infantile neuronal ceroid lipofuscinosis [RCV001830593] Chr4:127943805 [GRCh38]
Chr4:128864960 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.409G>T (p.Val137Phe) single nucleotide variant Inborn genetic diseases [RCV002318287] Chr4:127943782 [GRCh38]
Chr4:128864937 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.554-2A>T single nucleotide variant Inborn genetic diseases [RCV002318194] Chr4:127939999 [GRCh38]
Chr4:128861154 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.754+187_754+191del deletion not provided [RCV001566797] Chr4:127938592..127938596 [GRCh38]
Chr4:128859747..128859751 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1350+110C>A single nucleotide variant not provided [RCV001541355] Chr4:127921414 [GRCh38]
Chr4:128842569 [GRCh37]
Chr4:4q28.2		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q28.1-28.3(chr4:124282603-134014299)x1 copy number loss not provided [RCV000743955] Chr4:124282603..134014299 [GRCh37]
Chr4:4q28.1-28.3		 pathogenic
GRCh37/hg19 4q28.2(chr4:128843480-129149880)x1 copy number loss not provided [RCV000743967] Chr4:128843480..129149880 [GRCh37]
Chr4:4q28.2		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001371596.2(MFSD8):c.699-284T>C single nucleotide variant not provided [RCV001583393] Chr4:127939122 [GRCh38]
Chr4:128860277 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.219A>G (p.Thr73=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000869597] Chr4:127943972 [GRCh38]
Chr4:128865127 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.199-124T>C single nucleotide variant not provided [RCV001725583] Chr4:127944116 [GRCh38]
Chr4:128865271 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.754+179A>T single nucleotide variant not provided [RCV001725650] Chr4:127938604 [GRCh38]
Chr4:128859759 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.154+258C>T single nucleotide variant not provided [RCV001691664] Chr4:127957243 [GRCh38]
Chr4:128878398 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.1533A>G (p.Val511=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003120643]|not provided [RCV001585418] Chr4:127920654 [GRCh38]
Chr4:128841809 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.259C>T (p.Gln87Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002569076]|not provided [RCV001574809] Chr4:127943932 [GRCh38]
Chr4:128865087 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.*2314G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001149402] Chr4:127918316 [GRCh38]
Chr4:128839471 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*427G>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001149495] Chr4:127920203 [GRCh38]
Chr4:128841358 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.864-5C>T single nucleotide variant not provided [RCV000946812] Chr4:127930822 [GRCh38]
Chr4:128851977 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.408G>T (p.Leu136=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002065742] Chr4:127943783 [GRCh38]
Chr4:128864938 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1095G>A (p.Gln365=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000945433] Chr4:127921867 [GRCh38]
Chr4:128843022 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1005C>A (p.Gly335=) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001272734]|Neuronal ceroid lipofuscinosis 7 [RCV000972006] Chr4:127921957 [GRCh38]
Chr4:128843112 [GRCh37]
Chr4:4q28.2		 likely benign|uncertain significance
NM_001371596.2(MFSD8):c.698+7A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001432797] Chr4:127939846 [GRCh38]
Chr4:128861001 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.846C>A (p.Ile282=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000899464] Chr4:127933002 [GRCh38]
Chr4:128854157 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1120A>G (p.Ile374Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001057924] Chr4:127921754 [GRCh38]
Chr4:128842909 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.541A>G (p.Ile181Val) single nucleotide variant Inborn genetic diseases [RCV003243414]|Late-infantile neuronal ceroid lipofuscinosis [RCV001827240]|Neuronal ceroid lipofuscinosis 7 [RCV001040139] Chr4:127942057 [GRCh38]
Chr4:128863212 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.778C>T (p.Pro260Ser) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001836080]|Neuronal ceroid lipofuscinosis 7 [RCV001044041] Chr4:127933070 [GRCh38]
Chr4:128854225 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1103-2del deletion Neuronal ceroid lipofuscinosis 7 [RCV001056828] Chr4:127921773 [GRCh38]
Chr4:128842928 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.403A>G (p.Met135Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001060780] Chr4:127943788 [GRCh38]
Chr4:128864943 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.221G>C (p.Ser74Thr) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001833667]|Neuronal ceroid lipofuscinosis 7 [RCV001070273] Chr4:127943970 [GRCh38]
Chr4:128865125 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.863+1G>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001062378] Chr4:127932984 [GRCh38]
Chr4:128854139 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.578T>A (p.Leu193His) single nucleotide variant Inborn genetic diseases [RCV002554538]|Neuronal ceroid lipofuscinosis 7 [RCV001068221] Chr4:127939973 [GRCh38]
Chr4:128861128 [GRCh37]
Chr4:4q28.2		 uncertain significance
NC_000004.12:g.(?_127965062)_(127965143_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV001033274] Chr4:128886217..128886298 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.1093C>T (p.Gln365Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000779429] Chr4:127921869 [GRCh38]
Chr4:128843024 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1040dup (p.Trp348fs) duplication Neuronal ceroid lipofuscinosis 7 [RCV000779430] Chr4:127921921..127921922 [GRCh38]
Chr4:128843076..128843077 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.161del (p.Ser54fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV000779431] Chr4:127949841 [GRCh38]
Chr4:128870996 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.199-5T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001472464] Chr4:127943997 [GRCh38]
Chr4:128865152 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.439+9G>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000978144] Chr4:127943743 [GRCh38]
Chr4:128864898 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.493A>C (p.Arg165=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000874080] Chr4:127942105 [GRCh38]
Chr4:128863260 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.897C>T (p.Ala299=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000866880] Chr4:127930784 [GRCh38]
Chr4:128851939 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.864-6del deletion MFSD8-related condition [RCV003938227]|Neuronal ceroid lipofuscinosis 7 [RCV000862778] Chr4:127930823 [GRCh38]
Chr4:128851978 [GRCh37]
Chr4:4q28.2		 benign|likely benign
NM_001371596.2(MFSD8):c.186A>C (p.Pro62=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001414971] Chr4:127949816 [GRCh38]
Chr4:128870971 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.714T>C (p.Asp238=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003495209] Chr4:127938823 [GRCh38]
Chr4:128859978 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1074A>G (p.Gly358=) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001272732]|Neuronal ceroid lipofuscinosis 7 [RCV000941631] Chr4:127921888 [GRCh38]
Chr4:128843043 [GRCh37]
Chr4:4q28.2		 likely benign|uncertain significance
NM_001371596.2(MFSD8):c.177C>T (p.Ser59=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001437599] Chr4:127949825 [GRCh38]
Chr4:128870980 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.863+338A>G single nucleotide variant not provided [RCV000828557] Chr4:127932647 [GRCh38]
Chr4:128853802 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1213C>T (p.Gln405Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000987473] Chr4:127921661 [GRCh38]
Chr4:128842816 [GRCh37]
Chr4:4q28.2		 pathogenic|likely pathogenic
NM_001371596.2(MFSD8):c.63-1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000987476]|not provided [RCV001593164] Chr4:127957593 [GRCh38]
Chr4:128878748 [GRCh37]
Chr4:4q28.2		 pathogenic|likely pathogenic
NM_001371596.2(MFSD8):c.427G>A (p.Gly143Arg) single nucleotide variant not provided [RCV000998297] Chr4:127943764 [GRCh38]
Chr4:128864919 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.32A>G (p.Glu11Gly) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000801805] Chr4:127965102 [GRCh38]
Chr4:128886257 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001358451.3(ABHD18):c.-83G>C single nucleotide variant not provided [RCV000830373] Chr4:127965541 [GRCh38]
Chr4:128886696 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.155-174A>G single nucleotide variant not provided [RCV000836976] Chr4:127950021 [GRCh38]
Chr4:128871176 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.409G>A (p.Val137Ile) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001825556]|Neuronal ceroid lipofuscinosis 7 [RCV000796464]|not provided [RCV003480833] Chr4:127943782 [GRCh38]
Chr4:128864937 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.553+151C>G single nucleotide variant not provided [RCV000833787] Chr4:127941894 [GRCh38]
Chr4:128863049 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.155-307T>C single nucleotide variant not provided [RCV000830374] Chr4:127950154 [GRCh38]
Chr4:128871309 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.155-300T>C single nucleotide variant not provided [RCV000830376] Chr4:127950147 [GRCh38]
Chr4:128871302 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.864-45G>A single nucleotide variant not provided [RCV000835236] Chr4:127930862 [GRCh38]
Chr4:128852017 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1036G>A (p.Val346Ile) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001830792]|Neuronal ceroid lipofuscinosis 7 [RCV000817206] Chr4:127921926 [GRCh38]
Chr4:128843081 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.831dup (p.Val278fs) duplication Neuronal ceroid lipofuscinosis 7 [RCV000803823]|Retinal dystrophy [RCV001074092]|not provided [RCV003228993] Chr4:127933016..127933017 [GRCh38]
Chr4:128854171..128854172 [GRCh37]
Chr4:4q28.2		 pathogenic|likely pathogenic
NM_001371596.2(MFSD8):c.1278A>G (p.Ile426Met) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001272730]|Neuronal ceroid lipofuscinosis 7 [RCV000821501] Chr4:127921596 [GRCh38]
Chr4:128842751 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.233G>A (p.Trp78Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000794452]|not provided [RCV003141777] Chr4:127943958 [GRCh38]
Chr4:128865113 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.63A>C (p.Arg21Ser) single nucleotide variant Inborn genetic diseases [RCV002537096]|Late-infantile neuronal ceroid lipofuscinosis [RCV001835965]|Neuronal ceroid lipofuscinosis 7 [RCV000798680] Chr4:127957592 [GRCh38]
Chr4:128878747 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*2369C>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001149401] Chr4:127918261 [GRCh38]
Chr4:128839416 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*1147G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001147951] Chr4:127919483 [GRCh38]
Chr4:128840638 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*1455G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001146972] Chr4:127919175 [GRCh38]
Chr4:128840330 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.439+251G>A single nucleotide variant not provided [RCV000828734] Chr4:127943501 [GRCh38]
Chr4:128864656 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.218C>T (p.Thr73Ile) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001825627]|Neuronal ceroid lipofuscinosis 7 [RCV000812266] Chr4:127943973 [GRCh38]
Chr4:128865128 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.173T>C (p.Met58Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000799616] Chr4:127949829 [GRCh38]
Chr4:128870984 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1416C>T (p.Ile472=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001497698]|not provided [RCV000841444] Chr4:127920771 [GRCh38]
Chr4:128841926 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.102C>T (p.Ser34=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001088073]|not provided [RCV000841546] Chr4:127957553 [GRCh38]
Chr4:128878708 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1521T>G (p.Ile507Met) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000823804] Chr4:127920666 [GRCh38]
Chr4:128841821 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.436G>A (p.Ala146Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000814641] Chr4:127943755 [GRCh38]
Chr4:128864910 [GRCh37]
Chr4:4q28.2		 uncertain significance
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1		 pathogenic
NM_001371596.2(MFSD8):c.*675T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001147954] Chr4:127919955 [GRCh38]
Chr4:128841110 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.675T>C (p.Ile225=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001148067] Chr4:127939876 [GRCh38]
Chr4:128861031 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.136A>G (p.Met46Val) single nucleotide variant Inborn genetic diseases [RCV002559419]|Neuronal ceroid lipofuscinosis 7 [RCV001148069] Chr4:127957519 [GRCh38]
Chr4:128878674 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.199-2A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000987475] Chr4:127943994 [GRCh38]
Chr4:128865149 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.*1680A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001146971] Chr4:127918950 [GRCh38]
Chr4:128840105 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*1280T>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001146973] Chr4:127919350 [GRCh38]
Chr4:128840505 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.590del (p.Gly197fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV002549293]|not provided [RCV001009009] Chr4:127939961 [GRCh38]
Chr4:128861116 [GRCh37]
Chr4:4q28.2		 pathogenic|likely pathogenic
NM_001371596.2(MFSD8):c.*2104T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001145109] Chr4:127918526 [GRCh38]
Chr4:128839681 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*2010T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001145111] Chr4:127918620 [GRCh38]
Chr4:128839775 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.309A>T (p.Arg103Ser) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001828913]|Neuronal ceroid lipofuscinosis 7 [RCV001239056] Chr4:127943882 [GRCh38]
Chr4:128865037 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.362A>C (p.Tyr121Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001202866] Chr4:127943829 [GRCh38]
Chr4:128864984 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.27_33delinsCC (p.Glu9fs) indel Neuronal ceroid lipofuscinosis 7 [RCV001238914] Chr4:127965101..127965107 [GRCh38]
Chr4:128886256..128886262 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.187T>C (p.Tyr63His) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001828895]|Neuronal ceroid lipofuscinosis 7 [RCV001237932] Chr4:127949815 [GRCh38]
Chr4:128870970 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.305C>T (p.Pro102Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001241373] Chr4:127943886 [GRCh38]
Chr4:128865041 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.23G>C (p.Ser8Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001225111] Chr4:127965111 [GRCh38]
Chr4:128886266 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.553G>C (p.Val185Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001242649] Chr4:127942045 [GRCh38]
Chr4:128863200 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1423G>C (p.Val475Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001218693]|not provided [RCV001560430] Chr4:127920764 [GRCh38]
Chr4:128841919 [GRCh37]
Chr4:4q28.2		 likely benign|uncertain significance
NM_001371596.2(MFSD8):c.1124del (p.Pro375fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV000987474]|Neuronal ceroid lipofuscinosis 7 [RCV002497278] Chr4:127921750 [GRCh38]
Chr4:128842905 [GRCh37]
Chr4:4q28.2		 pathogenic|likely pathogenic
NM_001371596.2(MFSD8):c.479C>T (p.Thr160Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001196673] Chr4:127942119 [GRCh38]
Chr4:128863274 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.767A>C (p.Glu256Ala) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001232570] Chr4:127933081 [GRCh38]
Chr4:128854236 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.14G>A (p.Arg5Gln) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001835268]|Neuronal ceroid lipofuscinosis 7 [RCV001246483] Chr4:127965120 [GRCh38]
Chr4:128886275 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1040T>C (p.Val347Ala) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001833870]|Neuronal ceroid lipofuscinosis 7 [RCV001213504] Chr4:127921922 [GRCh38]
Chr4:128843077 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1350+2T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001196672] Chr4:127921522 [GRCh38]
Chr4:128842677 [GRCh37]
Chr4:4q28.2		 pathogenic|likely pathogenic
NM_001371596.2(MFSD8):c.156G>T (p.Gly52=) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001830023]|Neuronal ceroid lipofuscinosis 7 [RCV001247812] Chr4:127949846 [GRCh38]
Chr4:128871001 [GRCh37]
Chr4:4q28.2		 likely benign|uncertain significance
GRCh38/hg38 4q28.2(chr4:127949707-127984521)x0 copy number loss Neuronal ceroid lipofuscinosis 7 [RCV003327629] Chr4:127949707..127984521 [GRCh38]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.754+1G>A single nucleotide variant Macular dystrophy with central cone involvement [RCV001706719]|Neuronal ceroid lipofuscinosis 7 [RCV001204062]|not provided [RCV001092642] Chr4:127938782 [GRCh38]
Chr4:128859937 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.695T>C (p.Leu232Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003104872] Chr4:127939856 [GRCh38]
Chr4:128861011 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.698+16T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003104226] Chr4:127939837 [GRCh38]
Chr4:128860992 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.554-102T>C single nucleotide variant not provided [RCV001566450] Chr4:127940099 [GRCh38]
Chr4:128861254 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.754+197_754+200dup duplication not provided [RCV001554893] Chr4:127938582..127938583 [GRCh38]
Chr4:128859737..128859738 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.14G>C (p.Arg5Pro) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001827463]|Neuronal ceroid lipofuscinosis 7 [RCV002568351]|not provided [RCV001554949] Chr4:127965120 [GRCh38]
Chr4:128886275 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.754+181_754+186del deletion not provided [RCV001549931] Chr4:127938597..127938602 [GRCh38]
Chr4:128859752..128859757 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.554-257C>T single nucleotide variant not provided [RCV001687367] Chr4:127940254 [GRCh38]
Chr4:128861409 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.754+183_754+189del deletion not provided [RCV001589467] Chr4:127938594..127938600 [GRCh38]
Chr4:128859749..128859755 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.864-85A>C single nucleotide variant not provided [RCV001620519] Chr4:127930902 [GRCh38]
Chr4:128852057 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.754+183del deletion not provided [RCV001552651] Chr4:127938600 [GRCh38]
Chr4:128859755 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.754+187A>T single nucleotide variant not provided [RCV001599010] Chr4:127938596 [GRCh38]
Chr4:128859751 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.755-106A>T single nucleotide variant not provided [RCV001567070] Chr4:127933199 [GRCh38]
Chr4:128854354 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.54T>G (p.Pro18=) single nucleotide variant Inborn genetic diseases [RCV002345993]|Late-infantile neuronal ceroid lipofuscinosis [RCV001273686]|Neuronal ceroid lipofuscinosis 7 [RCV001421505]|not provided [RCV000868738] Chr4:127965080 [GRCh38]
Chr4:128886235 [GRCh37]
Chr4:4q28.2		 likely benign|uncertain significance
NM_001371596.2(MFSD8):c.1335A>G (p.Leu445=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001459011] Chr4:127921539 [GRCh38]
Chr4:128842694 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.755-6C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000932409]|not provided [RCV001565108] Chr4:127933099 [GRCh38]
Chr4:128854254 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.658C>T (p.Leu220=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV000929799] Chr4:127939893 [GRCh38]
Chr4:128861048 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.681G>T (p.Leu227=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002541526] Chr4:127939870 [GRCh38]
Chr4:128861025 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1068T>C (p.Pro356=) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001830861]|Neuronal ceroid lipofuscinosis 7 [RCV000861243]|not provided [RCV001585803] Chr4:127921894 [GRCh38]
Chr4:128843049 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.699-1G>C single nucleotide variant Inborn genetic diseases [RCV002551375]|Late-infantile neuronal ceroid lipofuscinosis [RCV001832379]|Neuronal ceroid lipofuscinosis 7 [RCV001037170] Chr4:127938839 [GRCh38]
Chr4:128859994 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.1234_1235inv (p.Pro412Gly) inversion Neuronal ceroid lipofuscinosis 7 [RCV001222197] Chr4:127921639..127921640 [GRCh38]
Chr4:128842794..128842795 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.910C>A (p.Gln304Lys) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001245044] Chr4:127930771 [GRCh38]
Chr4:128851926 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*2146A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001145108] Chr4:127918484 [GRCh38]
Chr4:128839639 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*2006A>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001145112] Chr4:127918624 [GRCh38]
Chr4:128839779 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*1709G>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001146970] Chr4:127918921 [GRCh38]
Chr4:128840076 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*842T>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001147952] Chr4:127919788 [GRCh38]
Chr4:128840943 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.475G>T (p.Ala159Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001237366] Chr4:127942123 [GRCh38]
Chr4:128863278 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.63-652_74del deletion Neuronal ceroid lipofuscinosis 7 [RCV001243818] Chr4:127957581..127958244 [GRCh38]
Chr4:128878736..128879399 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.*2309G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001149403] Chr4:127918321 [GRCh38]
Chr4:128839476 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*250G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001149497] Chr4:127920380 [GRCh38]
Chr4:128841535 [GRCh37]
Chr4:4q28.2		 uncertain significance
NC_000004.12:g.(?_127965052)_(127965153_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV001032409] Chr4:128886207..128886308 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001358451.3(ABHD18):c.-201T>C single nucleotide variant not provided [RCV001659566] Chr4:127965423 [GRCh38]
Chr4:128886578 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.917T>C (p.Val306Ala) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002470608] Chr4:127930764 [GRCh38]
Chr4:128851919 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.863+180G>T single nucleotide variant not provided [RCV001577905] Chr4:127932805 [GRCh38]
Chr4:128853960 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.754+147ATTT[10] microsatellite not provided [RCV001721888] Chr4:127938593..127938596 [GRCh38]
Chr4:128859748..128859751 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.727C>T (p.Gln243Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002470228] Chr4:127938810 [GRCh38]
Chr4:128859965 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.754+173T>A single nucleotide variant not provided [RCV001640975] Chr4:127938610 [GRCh38]
Chr4:128859765 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.755-115A>T single nucleotide variant not provided [RCV001575806] Chr4:127933208 [GRCh38]
Chr4:128854363 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.754+199_754+200del deletion not provided [RCV001554926] Chr4:127938583..127938584 [GRCh38]
Chr4:128859738..128859739 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.754+183A>T single nucleotide variant not provided [RCV001550607] Chr4:127938600 [GRCh38]
Chr4:128859755 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.154+226A>G single nucleotide variant not provided [RCV001556268] Chr4:127957275 [GRCh38]
Chr4:128878430 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.416G>T (p.Arg139Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002471478] Chr4:127943775 [GRCh38]
Chr4:128864930 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.155-34A>T single nucleotide variant not provided [RCV001589416] Chr4:127949881 [GRCh38]
Chr4:128871036 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.553+128dup duplication not provided [RCV001637291] Chr4:127941916..127941917 [GRCh38]
Chr4:128863071..128863072 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.1351-83G>C single nucleotide variant not provided [RCV001716871] Chr4:127920919 [GRCh38]
Chr4:128842074 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.698+267G>A single nucleotide variant not provided [RCV001619205] Chr4:127939586 [GRCh38]
Chr4:128860741 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.440-148C>G single nucleotide variant not provided [RCV001670601] Chr4:127942306 [GRCh38]
Chr4:128863461 [GRCh37]
Chr4:4q28.2		 benign
NM_001358451.3(ABHD18):c.-150T>C single nucleotide variant not provided [RCV001593696] Chr4:127965474 [GRCh38]
Chr4:128886629 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.754+198_754+200del deletion not provided [RCV001620011] Chr4:127938583..127938585 [GRCh38]
Chr4:128859738..128859740 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.754+187del deletion not provided [RCV001635861] Chr4:127938596 [GRCh38]
Chr4:128859751 [GRCh37]
Chr4:4q28.2		 benign
NC_000004.12:g.(?_127930663)_(127933113_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV001031558] Chr4:128851818..128854268 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.754+1G>C single nucleotide variant not provided [RCV001091383] Chr4:127938782 [GRCh38]
Chr4:128859937 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001271146]|Neuronal ceroid lipofuscinosis 7 [RCV001049768]|Neuronal ceroid lipofuscinosis 7 [RCV002497393] Chr4:127957552 [GRCh38]
Chr4:128878707 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.1393C>T (p.Arg465Trp) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001050490]|Neuronal ceroid lipofuscinosis [RCV002469331] Chr4:127920794 [GRCh38]
Chr4:128841949 [GRCh37]
Chr4:4q28.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001371596.2(MFSD8):c.*1969G>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001145113] Chr4:127918661 [GRCh38]
Chr4:128839816 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.170T>C (p.Met57Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001052364] Chr4:127949832 [GRCh38]
Chr4:128870987 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.754+183_754+188del deletion not provided [RCV001548242] Chr4:127938595..127938600 [GRCh38]
Chr4:128859750..128859755 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1448G>A (p.Trp483Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001035438] Chr4:127920739 [GRCh38]
Chr4:128841894 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.754+191T>A single nucleotide variant not provided [RCV001666955] Chr4:127938592 [GRCh38]
Chr4:128859747 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.627_643del (p.Met209fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV001004865] Chr4:127939908..127939924 [GRCh38]
Chr4:128861063..128861079 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.566G>A (p.Cys189Tyr) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001271144]|Neuronal ceroid lipofuscinosis 7 [RCV001041717] Chr4:127939985 [GRCh38]
Chr4:128861140 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.155-217G>A single nucleotide variant not provided [RCV001586770] Chr4:127950064 [GRCh38]
Chr4:128871219 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.931A>G (p.Ile311Val) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001832462]|Neuronal ceroid lipofuscinosis 7 [RCV001049609] Chr4:127930750 [GRCh38]
Chr4:128851905 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.754G>T (p.Ala252Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001052356] Chr4:127938783 [GRCh38]
Chr4:128859938 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.754+200del deletion not provided [RCV001586278] Chr4:127938583 [GRCh38]
Chr4:128859738 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.754+169T>A single nucleotide variant not provided [RCV001725522] Chr4:127938614 [GRCh38]
Chr4:128859769 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.754+169_754+174del deletion not provided [RCV001725647] Chr4:127938609..127938614 [GRCh38]
Chr4:128859764..128859769 [GRCh37]
Chr4:4q28.2		 benign
NC_000004.12:g.(?_127930663)_(127965153_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV001031859] Chr4:128851818..128886308 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.*2021C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001145110] Chr4:127918609 [GRCh38]
Chr4:128839764 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*1918T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001145114] Chr4:127918712 [GRCh38]
Chr4:128839867 [GRCh37]
Chr4:4q28.2		 uncertain significance
NC_000004.12:g.(?_127932965)_(127933113_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV001033260] Chr4:128854120..128854268 [GRCh37]
Chr4:4q28.2		 pathogenic
NC_000004.12:g.(?_127957491)_(127957602_?)dup duplication Neuronal ceroid lipofuscinosis 7 [RCV001033705] Chr4:128878646..128878757 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.240T>G (p.Ile80Met) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001231269] Chr4:127943951 [GRCh38]
Chr4:128865106 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*2464C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001149400] Chr4:127918166 [GRCh38]
Chr4:128839321 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.7G>A (p.Gly3Ser) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001828569]|Neuronal ceroid lipofuscinosis 7 [RCV001149613] Chr4:127965127 [GRCh38]
Chr4:128886282 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.199-1G>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001207633] Chr4:127943993 [GRCh38]
Chr4:128865148 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.*369G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001149496] Chr4:127920261 [GRCh38]
Chr4:128841416 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1280G>A (p.Gly427Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001145208] Chr4:127921594 [GRCh38]
Chr4:128842749 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1270G>A (p.Val424Met) single nucleotide variant Inborn genetic diseases [RCV003284092]|Late-infantile neuronal ceroid lipofuscinosis [RCV001836190]|Neuronal ceroid lipofuscinosis 7 [RCV001234179] Chr4:127921604 [GRCh38]
Chr4:128842759 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.998+13T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001147080] Chr4:127930670 [GRCh38]
Chr4:128851825 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.770C>T (p.Ala257Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001206817] Chr4:127933078 [GRCh38]
Chr4:128854233 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*2592A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001147860] Chr4:127918038 [GRCh38]
Chr4:128839193 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.431T>C (p.Ile144Thr) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001827267]|Neuronal ceroid lipofuscinosis 7 [RCV001043914] Chr4:127943760 [GRCh38]
Chr4:128864915 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.964G>A (p.Val322Ile) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001832442]|Neuronal ceroid lipofuscinosis 7 [RCV001046885] Chr4:127930717 [GRCh38]
Chr4:128851872 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.958G>C (p.Ala320Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001067623] Chr4:127930723 [GRCh38]
Chr4:128851878 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*2294G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001149404] Chr4:127918336 [GRCh38]
Chr4:128839491 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.*734A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001147953] Chr4:127919896 [GRCh38]
Chr4:128841051 [GRCh37]
Chr4:4q28.2		 uncertain significance
NC_000004.12:g.(?_127920610)_(127957612_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV001031045] Chr4:128841765..128878767 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.923A>G (p.Tyr308Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001197069] Chr4:127930758 [GRCh38]
Chr4:128851913 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NC_000004.12:g.(?_127920610)_(127965153_?)dup duplication Neuronal ceroid lipofuscinosis 7 [RCV001033911] Chr4:128841765..128886308 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.736A>T (p.Ser246Cys) single nucleotide variant Intellectual disability [RCV001252076] Chr4:127938801 [GRCh38]
Chr4:128859956 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.541A>C (p.Ile181Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001313513] Chr4:127942057 [GRCh38]
Chr4:128863212 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.116T>A (p.Ile39Asn) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001278244]|Neuronal ceroid lipofuscinosis 7 [RCV001880253] Chr4:127957539 [GRCh38]
Chr4:128878694 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001297889]|not provided [RCV001310496] Chr4:127943776 [GRCh38]
Chr4:128864931 [GRCh37]
Chr4:4q28.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001371596.2(MFSD8):c.63-2A>G single nucleotide variant Inborn genetic diseases [RCV001265986] Chr4:127957594 [GRCh38]
Chr4:128878749 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.1394G>A (p.Arg465Gln) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001263428]|not provided [RCV002272437] Chr4:127920793 [GRCh38]
Chr4:128841948 [GRCh37]
Chr4:4q28.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001371596.2(MFSD8):c.616C>T (p.Gln206Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001255132] Chr4:127939935 [GRCh38]
Chr4:128861090 [GRCh37]
Chr4:4q28.2		 pathogenic|uncertain significance
NM_001371596.2(MFSD8):c.1427A>G (p.Tyr476Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001325249] Chr4:127920760 [GRCh38]
Chr4:128841915 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.562A>G (p.Thr188Ala) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001324684] Chr4:127939989 [GRCh38]
Chr4:128861144 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1391C>T (p.Ala464Val) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001835436]|Neuronal ceroid lipofuscinosis 7 [RCV001300711] Chr4:127920796 [GRCh38]
Chr4:128841951 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.670A>T (p.Asn224Tyr) single nucleotide variant Macular dystrophy with central cone involvement [RCV001353036] Chr4:127939881 [GRCh38]
Chr4:128861036 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.439+4A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001299352] Chr4:127943748 [GRCh38]
Chr4:128864903 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.467C>T (p.Thr156Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001309130] Chr4:127942131 [GRCh38]
Chr4:128863286 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.37C>A (p.Leu13Ile) single nucleotide variant Inborn genetic diseases [RCV003375237]|Neuronal ceroid lipofuscinosis 7 [RCV001342553] Chr4:127965097 [GRCh38]
Chr4:128886252 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.422T>C (p.Leu141Ser) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001830273]|Neuronal ceroid lipofuscinosis 7 [RCV001313646] Chr4:127943769 [GRCh38]
Chr4:128864924 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.300T>C (p.Tyr100=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001396522] Chr4:127943891 [GRCh38]
Chr4:128865046 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.114T>C (p.Ser38=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001396911] Chr4:127957541 [GRCh38]
Chr4:128878696 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1291C>G (p.Pro431Ala) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001826024]|Neuronal ceroid lipofuscinosis 7 [RCV001363246] Chr4:127921583 [GRCh38]
Chr4:128842738 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.462A>G (p.Ser154=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001396924] Chr4:127942136 [GRCh38]
Chr4:128863291 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.22A>G (p.Ser8Gly) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001314799] Chr4:127965112 [GRCh38]
Chr4:128886267 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1080A>G (p.Gln360=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001422991] Chr4:127921882 [GRCh38]
Chr4:128843037 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.632C>T (p.Thr211Ile) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001831290]|Neuronal ceroid lipofuscinosis 7 [RCV001369516] Chr4:127939919 [GRCh38]
Chr4:128861074 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1116T>A (p.Asn372Lys) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001825951]|Neuronal ceroid lipofuscinosis 7 [RCV001349384] Chr4:127921758 [GRCh38]
Chr4:128842913 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.926A>G (p.Asn309Ser) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001831142]|Neuronal ceroid lipofuscinosis 7 [RCV001348605] Chr4:127930755 [GRCh38]
Chr4:128851910 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.754+183_754+187del deletion not provided [RCV001528038] Chr4:127938596..127938600 [GRCh38]
Chr4:128859751..128859755 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1550A>G (p.Gln517Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001308571] Chr4:127920637 [GRCh38]
Chr4:128841792 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.148A>T (p.Ser50Cys) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001831098]|Neuronal ceroid lipofuscinosis 7 [RCV001343517] Chr4:127957507 [GRCh38]
Chr4:128878662 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1190G>T (p.Arg397Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001309750] Chr4:127921684 [GRCh38]
Chr4:128842839 [GRCh37]
Chr4:4q28.2		 uncertain significance
NC_000004.11:g.(?_128554190)_(128886288_?)dup duplication Neuronal ceroid lipofuscinosis 7 [RCV001346938]|not provided [RCV003120576] Chr4:128554190..128886288 [GRCh37]
Chr4:4q28.1-28.2		 uncertain significance|no classifications from unflagged records
NM_001371596.2(MFSD8):c.1517T>C (p.Leu506Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001345033] Chr4:127920670 [GRCh38]
Chr4:128841825 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1010G>C (p.Arg337Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001345180] Chr4:127921952 [GRCh38]
Chr4:128843107 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.929G>C (p.Gly310Ala) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001361522] Chr4:127930752 [GRCh38]
Chr4:128851907 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.562A>T (p.Thr188Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001347863] Chr4:127939989 [GRCh38]
Chr4:128861144 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1437G>A (p.Trp479Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001358676] Chr4:127920750 [GRCh38]
Chr4:128841905 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.658C>G (p.Leu220Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001337354] Chr4:127939893 [GRCh38]
Chr4:128861048 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.128A>G (p.Tyr43Cys) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001831164]|Neuronal ceroid lipofuscinosis 7 [RCV001350893] Chr4:127957527 [GRCh38]
Chr4:128878682 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1351-5A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001421503] Chr4:127920841 [GRCh38]
Chr4:128841996 [GRCh37]
Chr4:4q28.2		 likely benign
GRCh37/hg19 4q26-28.2(chr4:116833638-130232122) copy number loss Atypical behavior [RCV001352657] Chr4:116833638..130232122 [GRCh37]
Chr4:4q26-28.2		 pathogenic
NC_000004.11:g.(?_128804417)_(129131208_?)dup duplication Neuronal ceroid lipofuscinosis 7 [RCV000708382]|not provided [RCV001305226] Chr4:128804417..129131208 [GRCh37]
Chr4:4q28.2		 uncertain significance|no classifications from unflagged records
NM_001371596.2(MFSD8):c.6C>T (p.Ala2=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001421870] Chr4:127965128 [GRCh38]
Chr4:128886283 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1399C>A (p.Leu467Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001367718] Chr4:127920788 [GRCh38]
Chr4:128841943 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.35C>T (p.Pro12Leu) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001278245]|Neuronal ceroid lipofuscinosis 7 [RCV002537787] Chr4:127965099 [GRCh38]
Chr4:128886254 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1310C>A (p.Ser437Tyr) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001830386]|Neuronal ceroid lipofuscinosis 7 [RCV001327341] Chr4:127921564 [GRCh38]
Chr4:128842719 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1010G>A (p.Arg337His) single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001830149]|Neuronal ceroid lipofuscinosis 7 [RCV001298373] Chr4:127921952 [GRCh38]
Chr4:128843107 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.424T>C (p.Leu142=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001412952] Chr4:127943767 [GRCh38]
Chr4:128864922 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1538A>G (p.Tyr513Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001370205] Chr4:127920649 [GRCh38]
Chr4:128841804 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.195A>G (p.Gln65=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001365864] Chr4:127949807 [GRCh38]
Chr4:128870962 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1146T>A (p.Ile382=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001472961] Chr4:127921728 [GRCh38]
Chr4:128842883 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.863+9T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001427607] Chr4:127932976 [GRCh38]
Chr4:128854131 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1518C>T (p.Leu506=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001458168] Chr4:127920669 [GRCh38]
Chr4:128841824 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.27A>G (p.Glu9=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001492386] Chr4:127965107 [GRCh38]
Chr4:128886262 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1351-6del deletion Neuronal ceroid lipofuscinosis 7 [RCV001520380] Chr4:127920842 [GRCh38]
Chr4:128841997 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.246A>G (p.Ser82=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001487756] Chr4:127943945 [GRCh38]
Chr4:128865100 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.863+8T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001465552] Chr4:127932977 [GRCh38]
Chr4:128854132 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1351-6C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001455392] Chr4:127920842 [GRCh38]
Chr4:128841997 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.72C>T (p.Asp24=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001474282] Chr4:127957583 [GRCh38]
Chr4:128878738 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.864-8_864-6del deletion Neuronal ceroid lipofuscinosis 7 [RCV001521900] Chr4:127930823..127930825 [GRCh38]
Chr4:128851978..128851980 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.878del (p.Pro292_Leu293insTer) deletion Neuronal ceroid lipofuscinosis 7 [RCV001385940] Chr4:127930803 [GRCh38]
Chr4:128851958 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.1325C>A (p.Ser442Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001388134] Chr4:127921549 [GRCh38]
Chr4:128842704 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.694C>T (p.Leu232=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001497328] Chr4:127939857 [GRCh38]
Chr4:128861012 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.651C>T (p.Ser217=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001434689] Chr4:127939900 [GRCh38]
Chr4:128861055 [GRCh37]
Chr4:4q28.2		 likely benign
NC_000004.11:g.(?_128851828)_(128851982_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV001376905] Chr4:128851828..128851982 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.999-4A>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001488295] Chr4:127921967 [GRCh38]
Chr4:128843122 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.136_137del (p.Met46fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV001389084] Chr4:127957518..127957519 [GRCh38]
Chr4:128878673..128878674 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.654C>T (p.Ala218=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001446190] Chr4:127939897 [GRCh38]
Chr4:128861052 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1217_1218dup (p.Trp407fs) duplication Neuronal ceroid lipofuscinosis 7 [RCV001388049] Chr4:127921655..127921656 [GRCh38]
Chr4:128842810..128842811 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.1206G>T (p.Ser402=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001409711] Chr4:127921668 [GRCh38]
Chr4:128842823 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.154+115C>T single nucleotide variant not provided [RCV001540570] Chr4:127957386 [GRCh38]
Chr4:128878541 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.525T>C (p.Cys175=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001434183] Chr4:127942073 [GRCh38]
Chr4:128863228 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.759T>C (p.Ser253=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001392997] Chr4:127933089 [GRCh38]
Chr4:128854244 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.755-7C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001402529] Chr4:127933100 [GRCh38]
Chr4:128854255 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.754+177T>A single nucleotide variant not provided [RCV001540850] Chr4:127938606 [GRCh38]
Chr4:128859761 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.864-4T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001404822] Chr4:127930821 [GRCh38]
Chr4:128851976 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.726A>G (p.Arg242=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001407515] Chr4:127938811 [GRCh38]
Chr4:128859966 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.306A>G (p.Pro102=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001446909] Chr4:127943885 [GRCh38]
Chr4:128865040 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1428T>C (p.Tyr476=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001449482] Chr4:127920759 [GRCh38]
Chr4:128841914 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.306A>T (p.Pro102=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001449553] Chr4:127943885 [GRCh38]
Chr4:128865040 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1206G>A (p.Ser402=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001426871] Chr4:127921668 [GRCh38]
Chr4:128842823 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.348A>G (p.Ala116=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001431719] Chr4:127943843 [GRCh38]
Chr4:128864998 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.154+7A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001411014] Chr4:127957494 [GRCh38]
Chr4:128878649 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.852C>T (p.Ala284=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001400249] Chr4:127932996 [GRCh38]
Chr4:128854151 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.945T>C (p.Ala315=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001429772] Chr4:127930736 [GRCh38]
Chr4:128851891 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.411T>C (p.Val137=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001448040] Chr4:127943780 [GRCh38]
Chr4:128864935 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1102+9A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001448373] Chr4:127921851 [GRCh38]
Chr4:128843006 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1218C>T (p.Ala406=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001498668] Chr4:127921656 [GRCh38]
Chr4:128842811 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1452A>G (p.Ala484=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001472721] Chr4:127920735 [GRCh38]
Chr4:128841890 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.954T>C (p.Val318=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001450838] Chr4:127930727 [GRCh38]
Chr4:128851882 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.873T>A (p.Thr291=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001479207] Chr4:127930808 [GRCh38]
Chr4:128851963 [GRCh37]
Chr4:4q28.2		 likely benign
NM_152778.4(MFSD8):c.-55G>C single nucleotide variant not provided [RCV001713214] Chr4:127965188 [GRCh38]
Chr4:128886343 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.192C>A (p.Leu64=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001486758] Chr4:127949810 [GRCh38]
Chr4:128870965 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.754+183_754+185del deletion not provided [RCV001652008] Chr4:127938598..127938600 [GRCh38]
Chr4:128859753..128859755 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.62+8G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001456234] Chr4:127965064 [GRCh38]
Chr4:128886219 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.154+8T>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001460782] Chr4:127957493 [GRCh38]
Chr4:128878648 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.207G>A (p.Pro69=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001497923] Chr4:127943984 [GRCh38]
Chr4:128865139 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.465T>C (p.Tyr155=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001472050] Chr4:127942133 [GRCh38]
Chr4:128863288 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.63-8A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001501623] Chr4:127957600 [GRCh38]
Chr4:128878755 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.144C>T (p.Leu48=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001473001] Chr4:127957511 [GRCh38]
Chr4:128878666 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.168G>T (p.Val56=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001460234] Chr4:127949834 [GRCh38]
Chr4:128870989 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.225T>C (p.Phe75=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001479804] Chr4:127943966 [GRCh38]
Chr4:128865121 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.6C>G (p.Ala2=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001504796] Chr4:127965128 [GRCh38]
Chr4:128886283 [GRCh37]
Chr4:4q28.2		 likely benign
NC_000004.11:g.(?_128544537)_(129131208_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV001381476] Chr4:128544537..129131208 [GRCh37]
Chr4:4q28.1-28.2		 pathogenic
NC_000004.11:g.(?_128886217)_(128886288_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV001381477] Chr4:128886217..128886288 [GRCh37]
Chr4:4q28.2		 pathogenic
NC_000004.11:g.(?_128841785)_(128843128_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV001381478] Chr4:128841785..128843128 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.155-8C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001496492] Chr4:127949855 [GRCh38]
Chr4:128871010 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.534A>G (p.Leu178=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001461470] Chr4:127942064 [GRCh38]
Chr4:128863219 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1251C>T (p.Ala417=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001429403] Chr4:127921623 [GRCh38]
Chr4:128842778 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.375C>T (p.His125=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001455824] Chr4:127943816 [GRCh38]
Chr4:128864971 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.240T>C (p.Ile80=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001465953] Chr4:127943951 [GRCh38]
Chr4:128865106 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1120del (p.Ile374fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV001387038] Chr4:127921754 [GRCh38]
Chr4:128842909 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.1316_1322del (p.Thr439fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV001387412] Chr4:127921552..127921558 [GRCh38]
Chr4:128842707..128842713 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.63-9T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001499150] Chr4:127957601 [GRCh38]
Chr4:128878756 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.960C>T (p.Ala320=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001419883] Chr4:127930721 [GRCh38]
Chr4:128851876 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.894T>C (p.Tyr298=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001496938] Chr4:127930787 [GRCh38]
Chr4:128851942 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.919T>C (p.Leu307=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001393763] Chr4:127930762 [GRCh38]
Chr4:128851917 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.864-1G>A single nucleotide variant Late-infantile neuronal ceroid lipofuscinosis [RCV001831364]|Neuronal ceroid lipofuscinosis 7 [RCV001379020]|not provided [RCV003128762] Chr4:127930818 [GRCh38]
Chr4:128851973 [GRCh37]
Chr4:4q28.2		 pathogenic|likely pathogenic
NM_001371596.2(MFSD8):c.1488C>A (p.Ile496=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001400893] Chr4:127920699 [GRCh38]
Chr4:128841854 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1377A>G (p.Ala459=) single nucleotide variant Inborn genetic diseases [RCV002384619]|Neuronal ceroid lipofuscinosis 7 [RCV001418387]|not provided [RCV001577900] Chr4:127920810 [GRCh38]
Chr4:128841965 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.440-7T>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001495039] Chr4:127942165 [GRCh38]
Chr4:128863320 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.699-4T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001437497] Chr4:127938842 [GRCh38]
Chr4:128859997 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1113del (p.Asn371fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV001386581] Chr4:127921761 [GRCh38]
Chr4:128842916 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.1314T>C (p.Tyr438=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001393849] Chr4:127921560 [GRCh38]
Chr4:128842715 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.36G>T (p.Pro12=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001477126] Chr4:127965098 [GRCh38]
Chr4:128886253 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.163G>A (p.Val55Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003108469] Chr4:127949839 [GRCh38]
Chr4:128870994 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1420C>T (p.Gln474Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002250114]|not provided [RCV003126205] Chr4:127920767 [GRCh38]
Chr4:128841922 [GRCh37]
Chr4:4q28.2		 pathogenic|uncertain significance
NM_001371596.2(MFSD8):c.1378T>C (p.Ser460Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003109028] Chr4:127920809 [GRCh38]
Chr4:128841964 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_152778.4(MFSD8):c.-75-2_-75-1inv inversion not provided [RCV001755574] Chr4:127965209..127965210 [GRCh38]
Chr4:128886364..128886365 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.761C>T (p.Thr254Ile) single nucleotide variant not provided [RCV001774861] Chr4:127933087 [GRCh38]
Chr4:128854242 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.772C>G (p.Gln258Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001868747]|not provided [RCV001768409] Chr4:127933076 [GRCh38]
Chr4:128854231 [GRCh37]
Chr4:4q28.2		 uncertain significance
GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1 copy number loss not provided [RCV001795851] Chr4:114872547..138005267 [GRCh37]
Chr4:4q26-28.3		 pathogenic
NM_001371596.2(MFSD8):c.1351-1G>A single nucleotide variant Abnormality of the nervous system [RCV001814504]|Neuronal ceroid lipofuscinosis 7 [RCV002568933] Chr4:127920837 [GRCh38]
Chr4:128841992 [GRCh37]
Chr4:4q28.2		 likely pathogenic|uncertain significance
NC_000004.11:g.(?_128870949)_(128871012_?)dup duplication Neuronal ceroid lipofuscinosis 7 [RCV002041817] Chr4:128870949..128871012 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.596C>T (p.Thr199Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001988274] Chr4:127939955 [GRCh38]
Chr4:128861110 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.999-1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001970620] Chr4:127921964 [GRCh38]
Chr4:128843119 [GRCh37]
Chr4:4q28.2		 likely pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
NM_001371596.2(MFSD8):c.1346C>T (p.Pro449Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001913947] Chr4:127921528 [GRCh38]
Chr4:128842683 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1228T>C (p.Tyr410His) single nucleotide variant Inborn genetic diseases [RCV002361286]|Neuronal ceroid lipofuscinosis 7 [RCV001987763] Chr4:127921646 [GRCh38]
Chr4:128842801 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.72C>A (p.Asp24Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002006866] Chr4:127957583 [GRCh38]
Chr4:128878738 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1534A>G (p.Arg512Gly) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001988376] Chr4:127920653 [GRCh38]
Chr4:128841808 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.91C>G (p.His31Asp) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001914352] Chr4:127957564 [GRCh38]
Chr4:128878719 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.773A>T (p.Gln258Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001986862] Chr4:127933075 [GRCh38]
Chr4:128854230 [GRCh37]
Chr4:4q28.2		 uncertain significance
NC_000004.11:g.(?_128864897)_(128886298_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV001949571] Chr4:128864897..128886298 [GRCh37]
Chr4:4q28.2		 pathogenic
GRCh37/hg19 4q26-28.2(chr4:116888785-129649979) copy number loss not specified [RCV002053451] Chr4:116888785..129649979 [GRCh37]
Chr4:4q26-28.2		 pathogenic
GRCh37/hg19 4q28.2(chr4:128852056-128927701) copy number loss not specified [RCV002053456] Chr4:128852056..128927701 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1318C>G (p.Leu440Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001927276] Chr4:127921556 [GRCh38]
Chr4:128842711 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.604G>A (p.Val202Met) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001912981] Chr4:127939947 [GRCh38]
Chr4:128861102 [GRCh37]
Chr4:4q28.2		 uncertain significance
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) copy number gain not specified [RCV002053446] Chr4:104715235..145252595 [GRCh37]
Chr4:4q24-31.21		 pathogenic
NM_001371596.2(MFSD8):c.1090del (p.Ile364fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV001946577] Chr4:127921872 [GRCh38]
Chr4:128843027 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.65_66del (p.Glu22fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV002002396] Chr4:127957589..127957590 [GRCh38]
Chr4:128878744..128878745 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.17A>C (p.Asn6Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001965502] Chr4:127965117 [GRCh38]
Chr4:128886272 [GRCh37]
Chr4:4q28.2		 uncertain significance
GRCh37/hg19 4q28.2(chr4:128852425-129087108)x3 copy number gain not provided [RCV001834479] Chr4:128852425..129087108 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.995A>C (p.Lys332Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001964446] Chr4:127930686 [GRCh38]
Chr4:128851841 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.46G>A (p.Asp16Asn) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001893542] Chr4:127965088 [GRCh38]
Chr4:128886243 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1354_1369del (p.Gly451_Val452insTer) deletion Neuronal ceroid lipofuscinosis 7 [RCV001844374] Chr4:127920818..127920833 [GRCh38]
Chr4:128841973..128841988 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.454G>T (p.Val152Phe) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002040615] Chr4:127942144 [GRCh38]
Chr4:128863299 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.838C>G (p.Leu280Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002542764]|not provided [RCV001824545] Chr4:127933010 [GRCh38]
Chr4:128854165 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.198+2T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001823671] Chr4:127949802 [GRCh38]
Chr4:128870957 [GRCh37]
Chr4:4q28.2		 pathogenic|likely pathogenic
NC_000004.11:g.(?_128841775)_(128878757_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV001963296] Chr4:128841775..128878757 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.1265C>T (p.Ser422Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001870549] Chr4:127921609 [GRCh38]
Chr4:128842764 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1258C>T (p.Leu420Phe) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001941251] Chr4:127921616 [GRCh38]
Chr4:128842771 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1231A>G (p.Thr411Ala) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001962444] Chr4:127921643 [GRCh38]
Chr4:128842798 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.360C>T (p.Leu120=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002104287] Chr4:127943831 [GRCh38]
Chr4:128864986 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.245C>T (p.Ser82Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002049565] Chr4:127943946 [GRCh38]
Chr4:128865101 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1168C>G (p.Pro390Ala) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001978850] Chr4:127921706 [GRCh38]
Chr4:128842861 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.531_537del (p.Gly179fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV001942019] Chr4:127942061..127942067 [GRCh38]
Chr4:128863216..128863222 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.680T>C (p.Leu227Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002011150] Chr4:127939871 [GRCh38]
Chr4:128861026 [GRCh37]
Chr4:4q28.2		 uncertain significance
NC_000004.11:g.(?_128878646)_(128878757_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV001963125] Chr4:128878646..128878757 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.554-1G>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002038325] Chr4:127939998 [GRCh38]
Chr4:128861153 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.133A>T (p.Thr45Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001943446] Chr4:127957522 [GRCh38]
Chr4:128878677 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1016T>G (p.Ile339Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001901257] Chr4:127921946 [GRCh38]
Chr4:128843101 [GRCh37]
Chr4:4q28.2		 uncertain significance
NC_000004.11:g.(?_128878646)_(128886298_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV001951313] Chr4:128878646..128886298 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.1064T>G (p.Leu355Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001870144] Chr4:127921898 [GRCh38]
Chr4:128843053 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.1511A>G (p.Lys504Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001996629] Chr4:127920676 [GRCh38]
Chr4:128841831 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.514A>G (p.Ile172Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001938698] Chr4:127942084 [GRCh38]
Chr4:128863239 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.110G>T (p.Arg37Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001975279] Chr4:127957545 [GRCh38]
Chr4:128878700 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1481T>C (p.Leu494Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001897805] Chr4:127920706 [GRCh38]
Chr4:128841861 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.400T>C (p.Tyr134His) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001870387] Chr4:127943791 [GRCh38]
Chr4:128864946 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1557A>C (p.Ter519Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001904403] Chr4:127920630 [GRCh38]
Chr4:128841785 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1178A>T (p.Asp393Val) single nucleotide variant Inborn genetic diseases [RCV002560547]|Neuronal ceroid lipofuscinosis 7 [RCV001933654] Chr4:127921696 [GRCh38]
Chr4:128842851 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.787A>G (p.Asn263Asp) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001955640] Chr4:127933061 [GRCh38]
Chr4:128854216 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1434C>A (p.His478Gln) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002047068] Chr4:127920753 [GRCh38]
Chr4:128841908 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1273C>G (p.Leu425Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001916787] Chr4:127921601 [GRCh38]
Chr4:128842756 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.598T>C (p.Trp200Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001992752] Chr4:127939953 [GRCh38]
Chr4:128861108 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.235G>C (p.Val79Leu) single nucleotide variant Inborn genetic diseases [RCV002458644]|Neuronal ceroid lipofuscinosis 7 [RCV002033046] Chr4:127943956 [GRCh38]
Chr4:128865111 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1093C>G (p.Gln365Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002047418] Chr4:127921869 [GRCh38]
Chr4:128843024 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1102+6G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001934296] Chr4:127921854 [GRCh38]
Chr4:128843009 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.690dup (p.Ile231fs) duplication Neuronal ceroid lipofuscinosis 7 [RCV001901049] Chr4:127939860..127939861 [GRCh38]
Chr4:128861015..128861016 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.248A>G (p.Tyr83Cys) single nucleotide variant Inborn genetic diseases [RCV002545399]|Neuronal ceroid lipofuscinosis 7 [RCV002051201] Chr4:127943943 [GRCh38]
Chr4:128865098 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.944C>A (p.Ala315Asp) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001931870] Chr4:127930737 [GRCh38]
Chr4:128851892 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.366A>G (p.Ala122=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001953754] Chr4:127943825 [GRCh38]
Chr4:128864980 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1072G>A (p.Gly358Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001978939] Chr4:127921890 [GRCh38]
Chr4:128843045 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.106T>C (p.Trp36Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001878538] Chr4:127957549 [GRCh38]
Chr4:128878704 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.52C>T (p.Pro18Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001916226] Chr4:127965082 [GRCh38]
Chr4:128886237 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.820G>A (p.Val274Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001900177] Chr4:127933028 [GRCh38]
Chr4:128854183 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1433A>T (p.His478Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001877925] Chr4:127920754 [GRCh38]
Chr4:128841909 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1158_1167del (p.Trp387fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV001952244] Chr4:127921707..127921716 [GRCh38]
Chr4:128842862..128842871 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.1109A>T (p.His370Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001907201] Chr4:127921765 [GRCh38]
Chr4:128842920 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.178A>G (p.Ile60Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001883580] Chr4:127949824 [GRCh38]
Chr4:128870979 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.593_594del (p.Val198fs) microsatellite Neuronal ceroid lipofuscinosis 7 [RCV001939546] Chr4:127939957..127939958 [GRCh38]
Chr4:128861112..128861113 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.423G>T (p.Leu141Phe) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001998106] Chr4:127943768 [GRCh38]
Chr4:128864923 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1106T>C (p.Leu369Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002017358] Chr4:127921768 [GRCh38]
Chr4:128842923 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.256G>A (p.Gly86Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001886208] Chr4:127943935 [GRCh38]
Chr4:128865090 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.769G>A (p.Ala257Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001924334] Chr4:127933079 [GRCh38]
Chr4:128854234 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.662G>A (p.Gly221Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002036048] Chr4:127939889 [GRCh38]
Chr4:128861044 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1196_1201del (p.Thr399_Cys401delinsSer) deletion Neuronal ceroid lipofuscinosis 7 [RCV001875315] Chr4:127921673..127921678 [GRCh38]
Chr4:128842828..128842833 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1229dup (p.Tyr410Ter) duplication Neuronal ceroid lipofuscinosis 7 [RCV001951006] Chr4:127921644..127921645 [GRCh38]
Chr4:128842799..128842800 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.77T>G (p.Leu26Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001900279] Chr4:127957578 [GRCh38]
Chr4:128878733 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.1417A>G (p.Ser473Gly) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002046400] Chr4:127920770 [GRCh38]
Chr4:128841925 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1307T>C (p.Met436Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001993086] Chr4:127921567 [GRCh38]
Chr4:128842722 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1015A>G (p.Ile339Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV001882046] Chr4:127921947 [GRCh38]
Chr4:128843102 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1029A>G (p.Gly343=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002104867] Chr4:127921933 [GRCh38]
Chr4:128843088 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1155T>C (p.Gly385=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002073721] Chr4:127921719 [GRCh38]
Chr4:128842874 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1350+8A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002105713] Chr4:127921516 [GRCh38]
Chr4:128842671 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.708T>G (p.Arg236=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002086438] Chr4:127938829 [GRCh38]
Chr4:128859984 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.864-16A>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002126449]|Neuronal ceroid lipofuscinosis 7 [RCV002505791] Chr4:127930833 [GRCh38]
Chr4:128851988 [GRCh37]
Chr4:4q28.2		 benign|likely benign
NM_001371596.2(MFSD8):c.897C>G (p.Ala299=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002084938] Chr4:127930784 [GRCh38]
Chr4:128851939 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.96T>C (p.Tyr32=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002146232] Chr4:127957559 [GRCh38]
Chr4:128878714 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.154+11G>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002127842] Chr4:127957490 [GRCh38]
Chr4:128878645 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.362_363del (p.Tyr121fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV002250115] Chr4:127943828..127943829 [GRCh38]
Chr4:128864983..128864984 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.918G>A (p.Val306=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002089167] Chr4:127930763 [GRCh38]
Chr4:128851918 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1131C>T (p.Thr377=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002185818] Chr4:127921743 [GRCh38]
Chr4:128842898 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.483C>T (p.Ser161=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002186555] Chr4:127942115 [GRCh38]
Chr4:128863270 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.63-16T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002096121] Chr4:127957608 [GRCh38]
Chr4:128878763 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1494C>T (p.Leu498=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002090979] Chr4:127920693 [GRCh38]
Chr4:128841848 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1485C>T (p.Thr495=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002135077] Chr4:127920702 [GRCh38]
Chr4:128841857 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.876A>G (p.Pro292=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002112513] Chr4:127930805 [GRCh38]
Chr4:128851960 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.393T>C (p.Asn131=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002213982] Chr4:127943798 [GRCh38]
Chr4:128864953 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.698+10_698+13del microsatellite Neuronal ceroid lipofuscinosis 7 [RCV002214055] Chr4:127939840..127939843 [GRCh38]
Chr4:128860995..128860998 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.933A>T (p.Ile311=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002171303] Chr4:127930748 [GRCh38]
Chr4:128851903 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1439G>T (p.Gly480Val) single nucleotide variant not provided [RCV002214332] Chr4:127920748 [GRCh38]
Chr4:128841903 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.1461G>A (p.Leu487=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002132824] Chr4:127920726 [GRCh38]
Chr4:128841881 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.249T>C (p.Tyr83=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002130014] Chr4:127943942 [GRCh38]
Chr4:128865097 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1351-10C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002078036] Chr4:127920846 [GRCh38]
Chr4:128842001 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.807T>C (p.Val269=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002148937] Chr4:127933041 [GRCh38]
Chr4:128854196 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.807T>A (p.Val269=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002096605] Chr4:127933041 [GRCh38]
Chr4:128854196 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.699-4del deletion Neuronal ceroid lipofuscinosis 7 [RCV002115810] Chr4:127938842 [GRCh38]
Chr4:128859997 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.1170A>G (p.Pro390=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002079552] Chr4:127921704 [GRCh38]
Chr4:128842859 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.199-8T>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002192762] Chr4:127944000 [GRCh38]
Chr4:128865155 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1404G>C (p.Gly468=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002077612] Chr4:127920783 [GRCh38]
Chr4:128841938 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.198+7A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002077689] Chr4:127949797 [GRCh38]
Chr4:128870952 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1103-18A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002151239] Chr4:127921789 [GRCh38]
Chr4:128842944 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.439+20_439+23del deletion Neuronal ceroid lipofuscinosis 7 [RCV002212790] Chr4:127943729..127943732 [GRCh38]
Chr4:128864884..128864887 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.162T>G (p.Ser54=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002132584] Chr4:127949840 [GRCh38]
Chr4:128870995 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.186A>G (p.Pro62=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002153418] Chr4:127949816 [GRCh38]
Chr4:128870971 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.24T>C (p.Ser8=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002134797] Chr4:127965110 [GRCh38]
Chr4:128886265 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.453T>C (p.Val151=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002089267] Chr4:127942145 [GRCh38]
Chr4:128863300 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.927T>C (p.Asn309=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002199358] Chr4:127930754 [GRCh38]
Chr4:128851909 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1060T>C (p.Leu354=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002121098] Chr4:127921902 [GRCh38]
Chr4:128843057 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.155-10T>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002137391] Chr4:127949857 [GRCh38]
Chr4:128871012 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.199-8_199-7insGG insertion Neuronal ceroid lipofuscinosis 7 [RCV002081548] Chr4:127943999..127944000 [GRCh38]
Chr4:128865154..128865155 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.459A>G (p.Arg153=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002203752] Chr4:127942139 [GRCh38]
Chr4:128863294 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.750A>G (p.Glu250=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002161637] Chr4:127938787 [GRCh38]
Chr4:128859942 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.624C>T (p.Asn208=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002163548] Chr4:127939927 [GRCh38]
Chr4:128861082 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.735A>G (p.Lys245=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002162111] Chr4:127938802 [GRCh38]
Chr4:128859957 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.993C>T (p.Ser331=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002141964] Chr4:127930688 [GRCh38]
Chr4:128851843 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1434C>T (p.His478=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002156800] Chr4:127920753 [GRCh38]
Chr4:128841908 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.155-20C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002200842] Chr4:127949867 [GRCh38]
Chr4:128871022 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1425G>A (p.Val475=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002143974] Chr4:127920762 [GRCh38]
Chr4:128841917 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1350+14C>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002137077] Chr4:127921510 [GRCh38]
Chr4:128842665 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.199-16G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002099755] Chr4:127944008 [GRCh38]
Chr4:128865163 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.630T>C (p.Tyr210=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002198098] Chr4:127939921 [GRCh38]
Chr4:128861076 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.186A>T (p.Pro62=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002218877] Chr4:127949816 [GRCh38]
Chr4:128870971 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.798G>A (p.Gln266=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002161444] Chr4:127933050 [GRCh38]
Chr4:128854205 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1103-5T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002203443] Chr4:127921776 [GRCh38]
Chr4:128842931 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.531A>G (p.Ala177=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002219163] Chr4:127942067 [GRCh38]
Chr4:128863222 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1050C>T (p.Gly350=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002161757] Chr4:127921912 [GRCh38]
Chr4:128843067 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1047T>G (p.Val349=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002181309] Chr4:127921915 [GRCh38]
Chr4:128843070 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.199-13C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002200730] Chr4:127944005 [GRCh38]
Chr4:128865160 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.63-12_63-10del microsatellite Neuronal ceroid lipofuscinosis 7 [RCV002136570] Chr4:127957602..127957604 [GRCh38]
Chr4:128878757..128878759 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.755-15C>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002181564] Chr4:127933108 [GRCh38]
Chr4:128854263 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1257C>T (p.Phe419=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002178542] Chr4:127921617 [GRCh38]
Chr4:128842772 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.792T>A (p.Ile264=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002099934] Chr4:127933056 [GRCh38]
Chr4:128854211 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.774G>A (p.Gln258=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002203899] Chr4:127933074 [GRCh38]
Chr4:128854229 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.963T>C (p.Val321=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002220993] Chr4:127930718 [GRCh38]
Chr4:128851873 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.554-6A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002139934] Chr4:127940003 [GRCh38]
Chr4:128861158 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.315G>A (p.Glu105=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002122287] Chr4:127943876 [GRCh38]
Chr4:128865031 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1094A>G (p.Gln365Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003110454] Chr4:127921868 [GRCh38]
Chr4:128843023 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.358C>G (p.Leu120Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003115317] Chr4:127943833 [GRCh38]
Chr4:128864988 [GRCh37]
Chr4:4q28.2		 uncertain significance
NC_000004.11:g.(?_128870939)_(128871022_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV003113737] Chr4:128870939..128871022 [GRCh37]
Chr4:4q28.2		 pathogenic
NC_000004.11:g.(?_128841785)_(128851992_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV003113738] Chr4:128841785..128851992 [GRCh37]
Chr4:4q28.2		 pathogenic
NC_000004.11:g.(?_128860988)_(128863333_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV003113739] Chr4:128860988..128863333 [GRCh37]
Chr4:4q28.2		 pathogenic
NC_000004.11:g.(?_128886207)_(128886288_?)dup duplication Neuronal ceroid lipofuscinosis 7 [RCV003113740] Chr4:128886207..128886288 [GRCh37]
Chr4:4q28.2		 uncertain significance
NC_000004.11:g.(?_128841785)_(128851992_?)dup duplication Neuronal ceroid lipofuscinosis 7 [RCV003113741] Chr4:128841785..128851992 [GRCh37]
Chr4:4q28.2		 uncertain significance
NC_000004.11:g.(?_128841775)_(128886298_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV003113742] Chr4:128841775..128886298 [GRCh37]
Chr4:4q28.2		 pathogenic
NC_000004.11:g.(?_128886207)_(128886288_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV003113743] Chr4:128886207..128886288 [GRCh37]
Chr4:4q28.2		 pathogenic
NC_000004.11:g.(?_128878636)_(128886288_?)del deletion Neuronal ceroid lipofuscinosis 7 [RCV003113744] Chr4:128878636..128886288 [GRCh37]
Chr4:4q28.2		 pathogenic
NC_000004.11:g.(?_128802290)_(128886288_?)dup duplication Neuronal ceroid lipofuscinosis 7 [RCV003113745] Chr4:128802290..128886288 [GRCh37]
Chr4:4q28.2		 uncertain significance
NC_000004.11:g.(?_128851818)_(128886288_?)dup duplication Neuronal ceroid lipofuscinosis 7 [RCV003113746] Chr4:128851818..128886288 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1196C>T (p.Thr399Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003121563] Chr4:127921678 [GRCh38]
Chr4:128842833 [GRCh37]
Chr4:4q28.2		 uncertain significance
NC_000004.11:g.(128878748_128886226)_(128887140_?)del deletion Neuronal ceroid lipofuscinosis [RCV003123551] Chr4:128886226..128887140 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.1021del (p.Leu341fs) deletion not provided [RCV002247154] Chr4:127921941 [GRCh38]
Chr4:128843096 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.59G>A (p.Ser20Asn) single nucleotide variant not provided [RCV002286064] Chr4:127965075 [GRCh38]
Chr4:128886230 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.154+4_154+7del deletion Neuronal ceroid lipofuscinosis 7 [RCV002284148] Chr4:127957494..127957497 [GRCh38]
Chr4:128878649..128878652 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.753A>G (p.Glu251=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002284295] Chr4:127938784 [GRCh38]
Chr4:128859939 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.699-1G>A single nucleotide variant Microcephaly 5, primary, autosomal recessive [RCV002267579]|Neuronal ceroid lipofuscinosis 7 [RCV002267578] Chr4:127938839 [GRCh38]
Chr4:128859994 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.534A>T (p.Leu178Phe) single nucleotide variant not provided [RCV002286959] Chr4:127942064 [GRCh38]
Chr4:128863219 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1130C>A (p.Thr377Asn) single nucleotide variant not provided [RCV002293714] Chr4:127921744 [GRCh38]
Chr4:128842899 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.29A>G (p.Gln10Arg) single nucleotide variant Inborn genetic diseases [RCV002435601]|Neuronal ceroid lipofuscinosis 7 [RCV003102960] Chr4:127965105 [GRCh38]
Chr4:128886260 [GRCh37]
Chr4:4q28.2		 likely benign|uncertain significance
NM_001371596.2(MFSD8):c.439G>A (p.Gly147Arg) single nucleotide variant not provided [RCV002263359] Chr4:127943752 [GRCh38]
Chr4:128864907 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.547G>T (p.Gly183Cys) single nucleotide variant not provided [RCV003131587] Chr4:127942051 [GRCh38]
Chr4:128863206 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.742_746del (p.Ile247_Asn248insTer) deletion Neuronal ceroid lipofuscinosis 7 [RCV002465065] Chr4:127938791..127938795 [GRCh38]
Chr4:128859946..128859950 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.112T>G (p.Ser38Ala) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002304651] Chr4:127957543 [GRCh38]
Chr4:128878698 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1234C>T (p.Pro412Ser) single nucleotide variant Inborn genetic diseases [RCV002378178] Chr4:127921640 [GRCh38]
Chr4:128842795 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.154G>A (p.Gly52Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003099117]|not specified [RCV002308650] Chr4:127957501 [GRCh38]
Chr4:128878656 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.670A>C (p.Asn224His) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002299155] Chr4:127939881 [GRCh38]
Chr4:128861036 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.889A>G (p.Met297Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002302984] Chr4:127930792 [GRCh38]
Chr4:128851947 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.40T>C (p.Leu14=) single nucleotide variant Inborn genetic diseases [RCV002323337] Chr4:127965094 [GRCh38]
Chr4:128886249 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1345C>T (p.Pro449Ser) single nucleotide variant Inborn genetic diseases [RCV002387808] Chr4:127921529 [GRCh38]
Chr4:128842684 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.503C>T (p.Ser168Phe) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002301211] Chr4:127942095 [GRCh38]
Chr4:128863250 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1096T>C (p.Trp366Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002303158] Chr4:127921866 [GRCh38]
Chr4:128843021 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1103-4A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002837762] Chr4:127921775 [GRCh38]
Chr4:128842930 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1236G>C (p.Pro412=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003015517] Chr4:127921638 [GRCh38]
Chr4:128842793 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.519C>T (p.Ser173=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002858132] Chr4:127942079 [GRCh38]
Chr4:128863234 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1135T>A (p.Phe379Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002616321] Chr4:127921739 [GRCh38]
Chr4:128842894 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1102+11A>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002881151] Chr4:127921849 [GRCh38]
Chr4:128843004 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.755-15C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003074889] Chr4:127933108 [GRCh38]
Chr4:128854263 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.428G>A (p.Gly143Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003074225] Chr4:127943763 [GRCh38]
Chr4:128864918 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.39C>G (p.Leu13=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002970859] Chr4:127965095 [GRCh38]
Chr4:128886250 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1390G>A (p.Ala464Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003074828] Chr4:127920797 [GRCh38]
Chr4:128841952 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.823_824del (p.Leu275fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV002726557] Chr4:127933024..127933025 [GRCh38]
Chr4:128854179..128854180 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.105A>G (p.Arg35=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003013257] Chr4:127957550 [GRCh38]
Chr4:128878705 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.738dup (p.Ile247fs) duplication Neuronal ceroid lipofuscinosis 7 [RCV003016911] Chr4:127938798..127938799 [GRCh38]
Chr4:128859953..128859954 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.554-17A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002908602] Chr4:127940014 [GRCh38]
Chr4:128861169 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.439+6G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002996683] Chr4:127943746 [GRCh38]
Chr4:128864901 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.356G>A (p.Cys119Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002909082] Chr4:127943835 [GRCh38]
Chr4:128864990 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.882A>G (p.Thr294=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002881454] Chr4:127930799 [GRCh38]
Chr4:128851954 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.755-2A>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002996751] Chr4:127933095 [GRCh38]
Chr4:128854250 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.1103-2A>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003016705] Chr4:127921773 [GRCh38]
Chr4:128842928 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.459A>T (p.Arg153Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003013595] Chr4:127942139 [GRCh38]
Chr4:128863294 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1029A>T (p.Gly343=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002947414] Chr4:127921933 [GRCh38]
Chr4:128843088 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1509C>A (p.Tyr503Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002865989] Chr4:127920678 [GRCh38]
Chr4:128841833 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.379C>A (p.Pro127Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002820014] Chr4:127943812 [GRCh38]
Chr4:128864967 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1267G>C (p.Ala423Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002775010] Chr4:127921607 [GRCh38]
Chr4:128842762 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.842_845del (p.Phe281fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV003074220] Chr4:127933003..127933006 [GRCh38]
Chr4:128854158..128854161 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.930C>T (p.Gly310=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002837848] Chr4:127930751 [GRCh38]
Chr4:128851906 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1208T>C (p.Ile403Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002971216] Chr4:127921666 [GRCh38]
Chr4:128842821 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.974T>G (p.Leu325Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002843511] Chr4:127930707 [GRCh38]
Chr4:128851862 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.1337del (p.Gly446fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV002843233] Chr4:127921537 [GRCh38]
Chr4:128842692 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.155-12G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002756192] Chr4:127949859 [GRCh38]
Chr4:128871014 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.439+6G>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002975037] Chr4:127943746 [GRCh38]
Chr4:128864901 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.150T>C (p.Ser50=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003034647]|not provided [RCV003491196] Chr4:127957505 [GRCh38]
Chr4:128878660 [GRCh37]
Chr4:4q28.2		 likely benign|uncertain significance
NM_001371596.2(MFSD8):c.1024G>C (p.Gly342Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002819326] Chr4:127921938 [GRCh38]
Chr4:128843093 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.939T>G (p.Leu313=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002871598] Chr4:127930742 [GRCh38]
Chr4:128851897 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.698+2T>A single nucleotide variant Macular dystrophy with central cone involvement [RCV002571627] Chr4:127939851 [GRCh38]
Chr4:128861006 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.1441C>G (p.Pro481Ala) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002800306] Chr4:127920746 [GRCh38]
Chr4:128841901 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.631A>G (p.Thr211Ala) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003055379] Chr4:127939920 [GRCh38]
Chr4:128861075 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1412del (p.Phe471fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV002825465] Chr4:127920775 [GRCh38]
Chr4:128841930 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.4G>A (p.Ala2Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002640257] Chr4:127965130 [GRCh38]
Chr4:128886285 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.319C>G (p.Leu107Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002690704] Chr4:127943872 [GRCh38]
Chr4:128865027 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1420C>G (p.Gln474Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002619472]|not provided [RCV003232818] Chr4:127920767 [GRCh38]
Chr4:128841922 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.155-10T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002846203] Chr4:127949857 [GRCh38]
Chr4:128871012 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.887A>T (p.Asp296Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002820581] Chr4:127930794 [GRCh38]
Chr4:128851949 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1151T>C (p.Ile384Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003077335] Chr4:127921723 [GRCh38]
Chr4:128842878 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.963T>A (p.Val321=) single nucleotide variant MFSD8-related condition [RCV003961109]|Neuronal ceroid lipofuscinosis 7 [RCV002659208] Chr4:127930718 [GRCh38]
Chr4:128851873 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.93T>C (p.His31=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002847660] Chr4:127957562 [GRCh38]
Chr4:128878717 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.126A>G (p.Leu42=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002885199] Chr4:127957529 [GRCh38]
Chr4:128878684 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.105A>T (p.Arg35=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002847212] Chr4:127957550 [GRCh38]
Chr4:128878705 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.154+1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003079055] Chr4:127957500 [GRCh38]
Chr4:128878655 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.1351-7C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003080332] Chr4:127920843 [GRCh38]
Chr4:128841998 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.864-20A>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002695616] Chr4:127930837 [GRCh38]
Chr4:128851992 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.291G>A (p.Trp97Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002824884] Chr4:127943900 [GRCh38]
Chr4:128865055 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.414T>G (p.Ala138=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002846510] Chr4:127943777 [GRCh38]
Chr4:128864932 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.754+16T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003054870] Chr4:127938767 [GRCh38]
Chr4:128859922 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.748G>C (p.Glu250Gln) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002691178] Chr4:127938789 [GRCh38]
Chr4:128859944 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.10C>T (p.Leu4=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003038223] Chr4:127965124 [GRCh38]
Chr4:128886279 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.199-17T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002638094] Chr4:127944009 [GRCh38]
Chr4:128865164 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1172T>C (p.Met391Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002592289] Chr4:127921702 [GRCh38]
Chr4:128842857 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.563C>T (p.Thr188Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003002619] Chr4:127939988 [GRCh38]
Chr4:128861143 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1102+1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002571701]|not provided [RCV003146578] Chr4:127921859 [GRCh38]
Chr4:128843014 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.572C>T (p.Thr191Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002909568] Chr4:127939979 [GRCh38]
Chr4:128861134 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.87A>G (p.Glu29=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002847301] Chr4:127957568 [GRCh38]
Chr4:128878723 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.84T>C (p.Thr28=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002848195] Chr4:127957571 [GRCh38]
Chr4:128878726 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.440-16G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002820415] Chr4:127942174 [GRCh38]
Chr4:128863329 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.439+5G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002780517] Chr4:127943747 [GRCh38]
Chr4:128864902 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.251G>A (p.Ser84Asn) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002998778] Chr4:127943940 [GRCh38]
Chr4:128865095 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1005C>T (p.Gly335=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003078766] Chr4:127921957 [GRCh38]
Chr4:128843112 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.12G>A (p.Leu4=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003080260] Chr4:127965122 [GRCh38]
Chr4:128886277 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.553+3A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002706713] Chr4:127942042 [GRCh38]
Chr4:128863197 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.199-1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002846590] Chr4:127943993 [GRCh38]
Chr4:128865148 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.765T>C (p.Asp255=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002658540] Chr4:127933083 [GRCh38]
Chr4:128854238 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.165A>G (p.Val55=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002821018] Chr4:127949837 [GRCh38]
Chr4:128870992 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.698+15A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002626220] Chr4:127939838 [GRCh38]
Chr4:128860993 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.600G>A (p.Trp200Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002790903] Chr4:127939951 [GRCh38]
Chr4:128861106 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.1020A>C (p.Leu340=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003041869] Chr4:127921942 [GRCh38]
Chr4:128843097 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1161G>C (p.Trp387Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002985707] Chr4:127921713 [GRCh38]
Chr4:128842868 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1171A>G (p.Met391Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002624151] Chr4:127921703 [GRCh38]
Chr4:128842858 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1102+18T>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002894527] Chr4:127921842 [GRCh38]
Chr4:128842997 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.885G>A (p.Met295Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002791606] Chr4:127930796 [GRCh38]
Chr4:128851951 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1431T>G (p.Ala477=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002894726] Chr4:127920756 [GRCh38]
Chr4:128841911 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.818A>G (p.Asn273Ser) single nucleotide variant Inborn genetic diseases [RCV003377862]|Neuronal ceroid lipofuscinosis 7 [RCV003085572] Chr4:127933030 [GRCh38]
Chr4:128854185 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.513C>A (p.Asn171Lys) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003085627] Chr4:127942085 [GRCh38]
Chr4:128863240 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.110G>A (p.Arg37Lys) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003008198] Chr4:127957545 [GRCh38]
Chr4:128878700 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1103-10_1103-8del deletion Neuronal ceroid lipofuscinosis 7 [RCV002928934] Chr4:127921779..127921781 [GRCh38]
Chr4:128842934..128842936 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1071G>A (p.Trp357Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002872750] Chr4:127921891 [GRCh38]
Chr4:128843046 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.850G>T (p.Ala284Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002593702] Chr4:127932998 [GRCh38]
Chr4:128854153 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1474A>G (p.Ile492Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003003349] Chr4:127920713 [GRCh38]
Chr4:128841868 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.674T>G (p.Ile225Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003022680] Chr4:127939877 [GRCh38]
Chr4:128861032 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.204T>C (p.Asp68=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003040255] Chr4:127943987 [GRCh38]
Chr4:128865142 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1149T>C (p.Ile383=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003005371] Chr4:127921725 [GRCh38]
Chr4:128842880 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1179T>C (p.Asp393=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003024182] Chr4:127921695 [GRCh38]
Chr4:128842850 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.918del (p.Leu307fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV002894417] Chr4:127930763 [GRCh38]
Chr4:128851918 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.1401T>A (p.Leu467=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002825676] Chr4:127920786 [GRCh38]
Chr4:128841941 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.174G>T (p.Met58Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002828154] Chr4:127949828 [GRCh38]
Chr4:128870983 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1112A>G (p.Asn371Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003084135] Chr4:127921762 [GRCh38]
Chr4:128842917 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.724A>G (p.Arg242Gly) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002851272] Chr4:127938813 [GRCh38]
Chr4:128859968 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.863+20C>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002982632] Chr4:127932965 [GRCh38]
Chr4:128854120 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.439+2T>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002894226] Chr4:127943750 [GRCh38]
Chr4:128864905 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.1249G>A (p.Ala417Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003059164] Chr4:127921625 [GRCh38]
Chr4:128842780 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.216T>C (p.Asp72=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003023409] Chr4:127943975 [GRCh38]
Chr4:128865130 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.147C>T (p.Ser49=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002982192] Chr4:127957508 [GRCh38]
Chr4:128878663 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.901A>G (p.Thr301Ala) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002663461] Chr4:127930780 [GRCh38]
Chr4:128851935 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1102+2T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002954176]|not provided [RCV003313296] Chr4:127921858 [GRCh38]
Chr4:128843013 [GRCh37]
Chr4:4q28.2		 pathogenic|likely pathogenic
NM_001371596.2(MFSD8):c.821T>C (p.Val274Ala) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002830050] Chr4:127933027 [GRCh38]
Chr4:128854182 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.294T>A (p.Ser98=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002623903] Chr4:127943897 [GRCh38]
Chr4:128865052 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1009C>T (p.Arg337Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002581987] Chr4:127921953 [GRCh38]
Chr4:128843108 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1208T>A (p.Ile403Asn) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002602225] Chr4:127921666 [GRCh38]
Chr4:128842821 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1415T>A (p.Ile472Asn) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002721258] Chr4:127920772 [GRCh38]
Chr4:128841927 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.433G>A (p.Gly145Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002967311] Chr4:127943758 [GRCh38]
Chr4:128864913 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.511A>G (p.Asn171Asp) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002647330] Chr4:127942087 [GRCh38]
Chr4:128863242 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1287C>G (p.Gly429=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002632591] Chr4:127921587 [GRCh38]
Chr4:128842742 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.621A>G (p.Ile207Met) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003064411] Chr4:127939930 [GRCh38]
Chr4:128861085 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.145A>G (p.Ser49Gly) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003047928] Chr4:127957510 [GRCh38]
Chr4:128878665 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1387G>A (p.Gly463Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003091295] Chr4:127920800 [GRCh38]
Chr4:128841955 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1227C>T (p.Leu409=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003026390] Chr4:127921647 [GRCh38]
Chr4:128842802 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.440-9G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002714859] Chr4:127942167 [GRCh38]
Chr4:128863322 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.639A>G (p.Pro213=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003029587] Chr4:127939912 [GRCh38]
Chr4:128861067 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1001T>C (p.Ile334Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002600537] Chr4:127921961 [GRCh38]
Chr4:128843116 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1A>G (p.Met1Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003029418] Chr4:127965133 [GRCh38]
Chr4:128886288 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.198+1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003045751] Chr4:127949803 [GRCh38]
Chr4:128870958 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.1103A>G (p.Asp368Gly) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002833601] Chr4:127921771 [GRCh38]
Chr4:128842926 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1351-7C>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002598514] Chr4:127920843 [GRCh38]
Chr4:128841998 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.119G>C (p.Arg40Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002937952] Chr4:127957536 [GRCh38]
Chr4:128878691 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.998+9A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003027512] Chr4:127930674 [GRCh38]
Chr4:128851829 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.381A>G (p.Pro127=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002578524] Chr4:127943810 [GRCh38]
Chr4:128864965 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1008G>A (p.Glu336=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002746498] Chr4:127921954 [GRCh38]
Chr4:128843109 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1392C>T (p.Ala464=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003086877] Chr4:127920795 [GRCh38]
Chr4:128841950 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.695T>G (p.Leu232Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003087228] Chr4:127939856 [GRCh38]
Chr4:128861011 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1033_1038delinsCC (p.Ile345fs) indel Neuronal ceroid lipofuscinosis 7 [RCV002900339] Chr4:127921924..127921929 [GRCh38]
Chr4:128843079..128843084 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.554-10T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002834008] Chr4:127940007 [GRCh38]
Chr4:128861162 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1350+16T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003065203] Chr4:127921508 [GRCh38]
Chr4:128842663 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1383A>C (p.Gly461=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002746523] Chr4:127920804 [GRCh38]
Chr4:128841959 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.888T>C (p.Asp296=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002938497] Chr4:127930793 [GRCh38]
Chr4:128851948 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.62+4A>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002966187] Chr4:127965068 [GRCh38]
Chr4:128886223 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1225C>G (p.Leu409Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002791826] Chr4:127921649 [GRCh38]
Chr4:128842804 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1418G>A (p.Ser473Asn) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002578780] Chr4:127920769 [GRCh38]
Chr4:128841924 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.496A>G (p.Thr166Ala) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003089596] Chr4:127942102 [GRCh38]
Chr4:128863257 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1039G>A (p.Val347Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002597697] Chr4:127921923 [GRCh38]
Chr4:128843078 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.999-4A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002602470] Chr4:127921967 [GRCh38]
Chr4:128843122 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1236G>A (p.Pro412=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002899307] Chr4:127921638 [GRCh38]
Chr4:128842793 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1225C>T (p.Leu409Phe) single nucleotide variant Inborn genetic diseases [RCV002896883] Chr4:127921649 [GRCh38]
Chr4:128842804 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1103-16G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002942220] Chr4:127921787 [GRCh38]
Chr4:128842942 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.155-19del deletion Neuronal ceroid lipofuscinosis 7 [RCV002634163] Chr4:127949866 [GRCh38]
Chr4:128871021 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.902C>A (p.Thr301Asn) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002815119] Chr4:127930779 [GRCh38]
Chr4:128851934 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1490C>T (p.Thr497Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003068898] Chr4:127920697 [GRCh38]
Chr4:128841852 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.755-14C>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003093546] Chr4:127933107 [GRCh38]
Chr4:128854262 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.782A>C (p.Gln261Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002586131] Chr4:127933066 [GRCh38]
Chr4:128854221 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.380C>T (p.Pro127Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003071911] Chr4:127943811 [GRCh38]
Chr4:128864966 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1480C>T (p.Leu494Phe) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003071436] Chr4:127920707 [GRCh38]
Chr4:128841862 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1176A>C (p.Glu392Asp) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002613323] Chr4:127921698 [GRCh38]
Chr4:128842853 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.718T>C (p.Ser240Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003051358] Chr4:127938819 [GRCh38]
Chr4:128859974 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1458_1459delinsAA (p.Ser486_Leu487delinsArgMet) indel Neuronal ceroid lipofuscinosis 7 [RCV002814866] Chr4:127920728..127920729 [GRCh38]
Chr4:128841883..128841884 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1350+1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV002611757] Chr4:127921523 [GRCh38]
Chr4:128842678 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.16A>C (p.Asn6His) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003070172] Chr4:127965118 [GRCh38]
Chr4:128886273 [GRCh37]
Chr4:4q28.2		 uncertain significance
NC_000004.11:g.(128859994_128861007)_(128865148_128870958)del deletion Neuronal ceroid lipofuscinosis [RCV003155764] Chr4:128861007..128865148 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.68G>A (p.Trp23Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003226083] Chr4:127957587 [GRCh38]
Chr4:128878742 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.290G>T (p.Trp97Leu) single nucleotide variant not provided [RCV003142627] Chr4:127943901 [GRCh38]
Chr4:128865056 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1025dup (p.Gly343fs) duplication not provided [RCV003147212] Chr4:127921936..127921937 [GRCh38]
Chr4:128843091..128843092 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.1445G>C (p.Arg482Pro) single nucleotide variant Cone-rod dystrophy [RCV003324702] Chr4:127920742 [GRCh38]
Chr4:128841897 [GRCh37]
Chr4:4q28.2		 uncertain significance
GRCh38/hg38 4q28.2(chr4:127964562-127965767)x0 copy number loss Neuronal ceroid lipofuscinosis 7 [RCV003327719] Chr4:127964562..127965767 [GRCh38]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.639A>C (p.Pro213=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003873701] Chr4:127939912 [GRCh38]
Chr4:128861067 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.863+15A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003874598] Chr4:127932970 [GRCh38]
Chr4:128854125 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.215del (p.Asp72fs) deletion Neuronal ceroid lipofuscinosis [RCV003388333] Chr4:127943976 [GRCh38]
Chr4:128865131 [GRCh37]
Chr4:4q28.2		 pathogenic
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 copy number gain not provided [RCV003484198] Chr4:117518683..168174703 [GRCh37]
Chr4:4q26-32.3		 pathogenic
NM_001371596.2(MFSD8):c.697A>G (p.Arg233Gly) single nucleotide variant not provided [RCV003443414] Chr4:127939854 [GRCh38]
Chr4:128861009 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.979del (p.Val327fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV003388904] Chr4:127930702 [GRCh38]
Chr4:128851857 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.45C>A (p.Gly15=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601429] Chr4:127965089 [GRCh38]
Chr4:128886244 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.654C>A (p.Ala218=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003600757] Chr4:127939897 [GRCh38]
Chr4:128861052 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.998+18G>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601805] Chr4:127930665 [GRCh38]
Chr4:128851820 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.133dup (p.Thr45fs) duplication Neuronal ceroid lipofuscinosis 7 [RCV003602210] Chr4:127957521..127957522 [GRCh38]
Chr4:128878676..128878677 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.439+17_439+18del microsatellite Neuronal ceroid lipofuscinosis 7 [RCV003601918] Chr4:127943734..127943735 [GRCh38]
Chr4:128864889..128864890 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.356_357insA (p.Cys119Ter) insertion Neuronal ceroid lipofuscinosis 7 [RCV003495056] Chr4:127943834..127943835 [GRCh38]
Chr4:128864989..128864990 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.1140G>T (p.Gly380=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003602433] Chr4:127921734 [GRCh38]
Chr4:128842889 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.864-15T>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601188] Chr4:127930832 [GRCh38]
Chr4:128851987 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1013C>A (p.Ala338Asp) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003602531] Chr4:127921949 [GRCh38]
Chr4:128843104 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1103-11del deletion Neuronal ceroid lipofuscinosis 7 [RCV003495423] Chr4:127921782 [GRCh38]
Chr4:128842937 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.1002T>C (p.Ile334=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003599888] Chr4:127921960 [GRCh38]
Chr4:128843115 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1273C>T (p.Leu425=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601379] Chr4:127921601 [GRCh38]
Chr4:128842756 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1032C>T (p.Leu344=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003495543] Chr4:127921930 [GRCh38]
Chr4:128843085 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.900G>A (p.Trp300Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003602170] Chr4:127930781 [GRCh38]
Chr4:128851936 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.1119_1122del (p.Ile374fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV003600109] Chr4:127921752..127921755 [GRCh38]
Chr4:128842907..128842910 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.755-1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003495688] Chr4:127933094 [GRCh38]
Chr4:128854249 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.755-18T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003600085] Chr4:127933111 [GRCh38]
Chr4:128854266 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.863+14C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003600164] Chr4:127932971 [GRCh38]
Chr4:128854126 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.42A>G (p.Leu14=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003600930] Chr4:127965092 [GRCh38]
Chr4:128886247 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.754+11C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003600193] Chr4:127938772 [GRCh38]
Chr4:128859927 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.63-8A>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003600168] Chr4:127957600 [GRCh38]
Chr4:128878755 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.864-2A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003600303] Chr4:127930819 [GRCh38]
Chr4:128851974 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.63-16dup duplication Neuronal ceroid lipofuscinosis 7 [RCV003495736] Chr4:127957607..127957608 [GRCh38]
Chr4:128878762..128878763 [GRCh37]
Chr4:4q28.2		 benign
NM_001371596.2(MFSD8):c.890T>C (p.Met297Thr) single nucleotide variant not provided [RCV003488029] Chr4:127930791 [GRCh38]
Chr4:128851946 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.573A>T (p.Thr191=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003599925] Chr4:127939978 [GRCh38]
Chr4:128861133 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.439+18T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601622] Chr4:127943734 [GRCh38]
Chr4:128864889 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.998+1G>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003496477] Chr4:127930682 [GRCh38]
Chr4:128851837 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.199-16G>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003600505] Chr4:127944008 [GRCh38]
Chr4:128865163 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1323T>C (p.Tyr441=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601782] Chr4:127921551 [GRCh38]
Chr4:128842706 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.198+18T>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003600752] Chr4:127949786 [GRCh38]
Chr4:128870941 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.439+17A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003602020] Chr4:127943735 [GRCh38]
Chr4:128864890 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1103-9T>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003496565] Chr4:127921780 [GRCh38]
Chr4:128842935 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.198+14A>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601865] Chr4:127949790 [GRCh38]
Chr4:128870945 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1235del (p.Pro412fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV003599894] Chr4:127921639 [GRCh38]
Chr4:128842794 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.447A>G (p.Val149=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003600554] Chr4:127942151 [GRCh38]
Chr4:128863306 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.198+16T>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003496079] Chr4:127949788 [GRCh38]
Chr4:128870943 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.998+17T>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003496673] Chr4:127930666 [GRCh38]
Chr4:128851821 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1102+12C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003496696] Chr4:127921848 [GRCh38]
Chr4:128843003 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.693A>T (p.Ile231=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601541] Chr4:127939858 [GRCh38]
Chr4:128861013 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.2T>C (p.Met1Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003494654] Chr4:127965132 [GRCh38]
Chr4:128886287 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.864-17_864-15del microsatellite Neuronal ceroid lipofuscinosis 7 [RCV003601964] Chr4:127930832..127930834 [GRCh38]
Chr4:128851987..128851989 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.199-12C>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601867] Chr4:127944004 [GRCh38]
Chr4:128865159 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.780C>G (p.Pro260=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003495999] Chr4:127933068 [GRCh38]
Chr4:128854223 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.402C>T (p.Tyr134=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003600758] Chr4:127943789 [GRCh38]
Chr4:128864944 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.154+17C>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601235] Chr4:127957484 [GRCh38]
Chr4:128878639 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.246A>C (p.Ser82=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003602059] Chr4:127943945 [GRCh38]
Chr4:128865100 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.155-11C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003602062] Chr4:127949858 [GRCh38]
Chr4:128871013 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.162T>C (p.Ser54=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003602085] Chr4:127949840 [GRCh38]
Chr4:128870995 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1266A>G (p.Ser422=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601290] Chr4:127921608 [GRCh38]
Chr4:128842763 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.2T>A (p.Met1Lys) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003602100] Chr4:127965132 [GRCh38]
Chr4:128886287 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.18C>T (p.Asn6=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003602111] Chr4:127965116 [GRCh38]
Chr4:128886271 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.439+15A>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601329] Chr4:127943737 [GRCh38]
Chr4:128864892 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.863+1G>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003494653] Chr4:127932984 [GRCh38]
Chr4:128854139 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.554-7T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601737] Chr4:127940004 [GRCh38]
Chr4:128861159 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.154+17C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601749] Chr4:127957484 [GRCh38]
Chr4:128878639 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.999-10T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601750] Chr4:127921973 [GRCh38]
Chr4:128843128 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.154+13A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601770] Chr4:127957488 [GRCh38]
Chr4:128878643 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.213T>C (p.Ala71=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003602151] Chr4:127943978 [GRCh38]
Chr4:128865133 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.378C>T (p.Ile126=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003602403] Chr4:127943813 [GRCh38]
Chr4:128864968 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1188A>G (p.Glu396=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003599899] Chr4:127921686 [GRCh38]
Chr4:128842841 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.154+11_154+13del deletion Neuronal ceroid lipofuscinosis 7 [RCV003602428] Chr4:127957488..127957490 [GRCh38]
Chr4:128878643..128878645 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1416C>A (p.Ile472=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601430] Chr4:127920771 [GRCh38]
Chr4:128841926 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.62+18G>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003602435] Chr4:127965054 [GRCh38]
Chr4:128886209 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.579T>C (p.Leu193=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601443] Chr4:127939972 [GRCh38]
Chr4:128861127 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.440-14G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003602450] Chr4:127942172 [GRCh38]
Chr4:128863327 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.63-13del deletion Neuronal ceroid lipofuscinosis 7 [RCV003494876] Chr4:127957605 [GRCh38]
Chr4:128878760 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1556A>G (p.Ter519=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003600008] Chr4:127920631 [GRCh38]
Chr4:128841786 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.553+18_553+19del deletion Neuronal ceroid lipofuscinosis 7 [RCV003602225] Chr4:127942026..127942027 [GRCh38]
Chr4:128863181..128863182 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.998+2T>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003494901] Chr4:127930681 [GRCh38]
Chr4:128851836 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.440-7T>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003602532] Chr4:127942165 [GRCh38]
Chr4:128863320 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.699-2A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601545] Chr4:127938840 [GRCh38]
Chr4:128859995 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.864-14T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003495753] Chr4:127930831 [GRCh38]
Chr4:128851986 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1103-18A>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003600656] Chr4:127921789 [GRCh38]
Chr4:128842944 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1217C>G (p.Ala406Gly) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601151] Chr4:127921657 [GRCh38]
Chr4:128842812 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.1350+19C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601160] Chr4:127921505 [GRCh38]
Chr4:128842660 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.372C>T (p.Leu124=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601577] Chr4:127943819 [GRCh38]
Chr4:128864974 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.553+16A>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601971] Chr4:127942029 [GRCh38]
Chr4:128863184 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.699-17G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003601980] Chr4:127938855 [GRCh38]
Chr4:128860010 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1351-11_1351-10insAT insertion Neuronal ceroid lipofuscinosis 7 [RCV003495936] Chr4:127920846..127920847 [GRCh38]
Chr4:128842001..128842002 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1351-9C>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003602202] Chr4:127920845 [GRCh38]
Chr4:128842000 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.155-8del deletion Neuronal ceroid lipofuscinosis 7 [RCV003495797] Chr4:127949855 [GRCh38]
Chr4:128871010 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.439+12T>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003495817] Chr4:127943740 [GRCh38]
Chr4:128864895 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.198+17C>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003495824] Chr4:127949787 [GRCh38]
Chr4:128870942 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.439+13G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003496141] Chr4:127943739 [GRCh38]
Chr4:128864894 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1263A>G (p.Thr421=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003494694] Chr4:127921611 [GRCh38]
Chr4:128842766 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.249_250dup (p.Ser84fs) microsatellite Neuronal ceroid lipofuscinosis 7 [RCV003881677] Chr4:127943940..127943941 [GRCh38]
Chr4:128865095..128865096 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.219A>C (p.Thr73=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003496601] Chr4:127943972 [GRCh38]
Chr4:128865127 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.998+11T>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003495358] Chr4:127930672 [GRCh38]
Chr4:128851827 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1344A>G (p.Lys448=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003496646] Chr4:127921530 [GRCh38]
Chr4:128842685 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.698+18A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003494617] Chr4:127939835 [GRCh38]
Chr4:128860990 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.63-14T>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003496320] Chr4:127957606 [GRCh38]
Chr4:128878761 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.291del (p.Trp97fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV003496341] Chr4:127943900 [GRCh38]
Chr4:128865055 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.698+17G>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003496353] Chr4:127939836 [GRCh38]
Chr4:128860991 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.554-4T>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003494844] Chr4:127940001 [GRCh38]
Chr4:128861156 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1280G>T (p.Gly427Val) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003496815] Chr4:127921594 [GRCh38]
Chr4:128842749 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.863+2dup duplication Neuronal ceroid lipofuscinosis 7 [RCV003497330] Chr4:127932982..127932983 [GRCh38]
Chr4:128854137..128854138 [GRCh37]
Chr4:4q28.2		 uncertain significance
NM_001371596.2(MFSD8):c.863+1del deletion Neuronal ceroid lipofuscinosis 7 [RCV003496883] Chr4:127932984 [GRCh38]
Chr4:128854139 [GRCh37]
Chr4:4q28.2		 likely pathogenic
NM_001371596.2(MFSD8):c.939del (p.Ala314fs) deletion Neuronal ceroid lipofuscinosis 7 [RCV003496863] Chr4:127930742 [GRCh38]
Chr4:128851897 [GRCh37]
Chr4:4q28.2		 pathogenic
NM_001371596.2(MFSD8):c.863+15A>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003496924] Chr4:127932970 [GRCh38]
Chr4:128854125 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1350+17G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003840495] Chr4:127921507 [GRCh38]
Chr4:128842662 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.420A>G (p.Gly140=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003840503] Chr4:127943771 [GRCh38]
Chr4:128864926 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1539T>C (p.Tyr513=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003839856] Chr4:127920648 [GRCh38]
Chr4:128841803 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.199-12C>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003810841] Chr4:127944004 [GRCh38]
Chr4:128865159 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.363T>C (p.Tyr121=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003497232] Chr4:127943828 [GRCh38]
Chr4:128864983 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.155-19C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003497101] Chr4:127949866 [GRCh38]
Chr4:128871021 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.62+18G>A single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003850047] Chr4:127965054 [GRCh38]
Chr4:128886209 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.1554A>G (p.Glu518=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003497230] Chr4:127920633 [GRCh38]
Chr4:128841788 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.63-15C>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003857441] Chr4:127957607 [GRCh38]
Chr4:128878762 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.864-10T>C single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003867432] Chr4:127930827 [GRCh38]
Chr4:128851982 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.597A>G (p.Thr199=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003867335] Chr4:127939954 [GRCh38]
Chr4:128861109 [GRCh37]
Chr4:4q28.2		 likely benign
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
NM_001371596.2(MFSD8):c.439+15A>G single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003844705] Chr4:127943737 [GRCh38]
Chr4:128864892 [GRCh37]
Chr4:4q28.2		 likely benign
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2		 pathogenic
NM_001371596.2(MFSD8):c.1086C>G (p.Pro362=) single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003820510] Chr4:127921876 [GRCh38]
Chr4:128843031 [GRCh37]
Chr4:4q28.2		 likely benign
NM_001371596.2(MFSD8):c.864-19A>T single nucleotide variant Neuronal ceroid lipofuscinosis 7 [RCV003840997] Chr4:127930836 [GRCh38]
Chr4:128851991 [GRCh37]
Chr4:4q28.2		 likely benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_001371596.2(MFSD8):c.863+995_998+1480del deletion Neuronal ceroid lipofuscinosis 7 [RCV003333698] Chr4:127929203..127931990 [GRCh38]
Chr4:128850358..128853145 [GRCh37]
Chr4:4q28.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1634
Count of miRNA genes:871
Interacting mature miRNAs:1003
Transcripts:ENST00000296468, ENST00000503928, ENST00000504126, ENST00000505284, ENST00000508441, ENST00000509826, ENST00000513559, ENST00000515130, ENST00000541133
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-50195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374128,841,522 - 128,841,712UniSTSGRCh37
Build 364129,060,972 - 129,061,162RGDNCBI36
Celera4126,220,475 - 126,220,665RGD
Cytogenetic Map4q28.2UniSTS
HuRef4124,569,233 - 124,569,423UniSTS
TNG Radiation Hybrid Map479317.0UniSTS
SHGC-16476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374128,841,522 - 128,841,669UniSTSGRCh37
Build 364129,060,972 - 129,061,119RGDNCBI36
Celera4126,220,475 - 126,220,622RGD
Cytogenetic Map4q28.2UniSTS
HuRef4124,569,233 - 124,569,380UniSTS
RH48272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374128,840,084 - 128,840,238UniSTSGRCh37
Build 364129,059,534 - 129,059,688RGDNCBI36
Celera4126,219,037 - 126,219,191RGD
Cytogenetic Map4q28.2UniSTS
HuRef4124,567,795 - 124,567,949UniSTS
GeneMap99-GB4 RH Map4570.63UniSTS
NCBI RH Map41297.4UniSTS


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 1080 867 970 124 594 58 2222 400 1470 159 937 1047 72 340 1484 2
Low 1355 2039 755 500 1279 406 2132 1790 2260 259 514 563 100 1 864 1304 2 2
Below cutoff 1 82 1 77 1 2 4 4 1 6 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA242881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI553701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ015234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB956202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN310788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX873070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA481070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ571209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000296468   ⟹   ENSP00000296468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,799 - 127,965,949 (-)Ensembl
RefSeq Acc Id: ENST00000503928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,804 - 127,920,600 (-)Ensembl
RefSeq Acc Id: ENST00000504126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,921,357 - 127,921,989 (-)Ensembl
RefSeq Acc Id: ENST00000505284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,932,340 - 127,964,936 (-)Ensembl
RefSeq Acc Id: ENST00000508441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,939,779 - 127,965,148 (-)Ensembl
RefSeq Acc Id: ENST00000509826   ⟹   ENSP00000421176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,920,557 - 127,965,191 (-)Ensembl
RefSeq Acc Id: ENST00000513559   ⟹   ENSP00000425000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,920,322 - 127,965,230 (-)Ensembl
RefSeq Acc Id: ENST00000515130   ⟹   ENSP00000493056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,919,215 - 127,965,995 (-)Ensembl
RefSeq Acc Id: ENST00000641003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,930,673 - 127,933,237 (-)Ensembl
RefSeq Acc Id: ENST00000641025   ⟹   ENSP00000493346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,860 - 127,965,171 (-)Ensembl
RefSeq Acc Id: ENST00000641092   ⟹   ENSP00000493392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,849 - 127,965,154 (-)Ensembl
RefSeq Acc Id: ENST00000641133   ⟹   ENSP00000493192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,933 - 127,965,180 (-)Ensembl
RefSeq Acc Id: ENST00000641134   ⟹   ENSP00000492925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,932,370 - 127,965,952 (-)Ensembl
RefSeq Acc Id: ENST00000641140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,943,391 - 127,965,219 (-)Ensembl
RefSeq Acc Id: ENST00000641146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,960 - 127,933,713 (-)Ensembl
RefSeq Acc Id: ENST00000641147   ⟹   ENSP00000493133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,889 - 127,965,984 (-)Ensembl
RefSeq Acc Id: ENST00000641178   ⟹   ENSP00000492989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,889 - 127,966,034 (-)Ensembl
RefSeq Acc Id: ENST00000641186   ⟹   ENSP00000493347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,814 - 127,965,322 (-)Ensembl
RefSeq Acc Id: ENST00000641228   ⟹   ENSP00000493194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,920,057 - 127,965,180 (-)Ensembl
RefSeq Acc Id: ENST00000641243   ⟹   ENSP00000493083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,932,319 - 127,965,171 (-)Ensembl
RefSeq Acc Id: ENST00000641264   ⟹   ENSP00000492908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,933,065 - 127,965,182 (-)Ensembl
RefSeq Acc Id: ENST00000641332   ⟹   ENSP00000493397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,919,291 - 127,965,164 (-)Ensembl
RefSeq Acc Id: ENST00000641340   ⟹   ENSP00000493191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,920,628 - 127,965,145 (-)Ensembl
RefSeq Acc Id: ENST00000641356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,945,335 - 127,965,957 (-)Ensembl
RefSeq Acc Id: ENST00000641369   ⟹   ENSP00000493037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,930,683 - 127,965,153 (-)Ensembl
RefSeq Acc Id: ENST00000641388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,920,656 - 127,934,662 (-)Ensembl
RefSeq Acc Id: ENST00000641393   ⟹   ENSP00000493197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,860 - 127,965,361 (-)Ensembl
RefSeq Acc Id: ENST00000641397   ⟹   ENSP00000493406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,852 - 127,965,142 (-)Ensembl
RefSeq Acc Id: ENST00000641413   ⟹   ENSP00000493141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,918,295 - 127,930,709 (-)Ensembl
RefSeq Acc Id: ENST00000641434   ⟹   ENSP00000493279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,898 - 127,965,171 (-)Ensembl
RefSeq Acc Id: ENST00000641447   ⟹   ENSP00000493448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,943,756 - 127,965,938 (-)Ensembl
RefSeq Acc Id: ENST00000641464   ⟹   ENSP00000493438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,846 - 127,965,984 (-)Ensembl
RefSeq Acc Id: ENST00000641482   ⟹   ENSP00000493277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,925 - 127,965,148 (-)Ensembl
RefSeq Acc Id: ENST00000641503   ⟹   ENSP00000493304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,932,664 - 127,965,145 (-)Ensembl
RefSeq Acc Id: ENST00000641508   ⟹   ENSP00000493209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,825 - 127,965,148 (-)Ensembl
RefSeq Acc Id: ENST00000641509   ⟹   ENSP00000493459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,860 - 127,965,171 (-)Ensembl
RefSeq Acc Id: ENST00000641538   ⟹   ENSP00000492993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,921,926 - 127,949,847 (-)Ensembl
RefSeq Acc Id: ENST00000641558   ⟹   ENSP00000493335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,942,071 - 127,965,143 (-)Ensembl
RefSeq Acc Id: ENST00000641590   ⟹   ENSP00000493132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,920,189 - 127,965,145 (-)Ensembl
RefSeq Acc Id: ENST00000641658   ⟹   ENSP00000492987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,920,302 - 127,965,949 (-)Ensembl
RefSeq Acc Id: ENST00000641686   ⟹   ENSP00000493218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,805 - 127,965,173 (-)Ensembl
RefSeq Acc Id: ENST00000641690   ⟹   ENSP00000492966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,827 - 127,965,173 (-)Ensembl
RefSeq Acc Id: ENST00000641695   ⟹   ENSP00000493134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,932,422 - 127,965,164 (-)Ensembl
RefSeq Acc Id: ENST00000641742   ⟹   ENSP00000493315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,920,265 - 127,965,179 (-)Ensembl
RefSeq Acc Id: ENST00000641743   ⟹   ENSP00000493130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,932,915 - 127,965,148 (-)Ensembl
RefSeq Acc Id: ENST00000641748   ⟹   ENSP00000493330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,825 - 127,965,190 (-)Ensembl
RefSeq Acc Id: ENST00000641753   ⟹   ENSP00000493240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,889 - 127,965,074 (-)Ensembl
RefSeq Acc Id: ENST00000641774   ⟹   ENSP00000492960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,820 - 127,965,164 (-)Ensembl
RefSeq Acc Id: ENST00000641776   ⟹   ENSP00000493261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,933,018 - 127,965,217 (-)Ensembl
RefSeq Acc Id: ENST00000641830   ⟹   ENSP00000493002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,921,467 - 127,939,886 (-)Ensembl
RefSeq Acc Id: ENST00000641843   ⟹   ENSP00000493174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,920,219 - 127,965,949 (-)Ensembl
RefSeq Acc Id: ENST00000641869   ⟹   ENSP00000493423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,919,194 - 127,942,047 (-)Ensembl
RefSeq Acc Id: ENST00000641870   ⟹   ENSP00000493044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,919,313 - 127,965,148 (-)Ensembl
RefSeq Acc Id: ENST00000641882   ⟹   ENSP00000493301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,920,254 - 127,965,251 (-)Ensembl
RefSeq Acc Id: ENST00000641928   ⟹   ENSP00000493418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,835 - 127,965,963 (-)Ensembl
RefSeq Acc Id: ENST00000641949   ⟹   ENSP00000492891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,919,781 - 127,965,164 (-)Ensembl
RefSeq Acc Id: ENST00000642012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,920,340 - 127,939,400 (-)Ensembl
RefSeq Acc Id: ENST00000642034   ⟹   ENSP00000493285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,917,862 - 127,965,158 (-)Ensembl
RefSeq Acc Id: ENST00000642042   ⟹   ENSP00000493260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,920,618 - 127,965,180 (-)Ensembl
RefSeq Acc Id: ENST00000642078   ⟹   ENSP00000492885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,920,220 - 127,965,164 (-)Ensembl
RefSeq Acc Id: ENST00000642121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,930,688 - 127,957,590 (-)Ensembl
RefSeq Acc Id: ENST00000642143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4127,939,080 - 127,949,846 (-)Ensembl
RefSeq Acc Id: NM_001363520   ⟹   NP_001350449
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,917,805 - 127,965,173 (-)NCBI
T2T-CHM13v2.04131,220,831 - 131,269,215 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363521   ⟹   NP_001350450
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,917,805 - 127,965,173 (-)NCBI
T2T-CHM13v2.04131,220,831 - 131,269,215 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371590   ⟹   NP_001358519
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,917,805 - 127,965,963 (-)NCBI
T2T-CHM13v2.04131,220,831 - 131,270,005 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371591   ⟹   NP_001358520
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,917,805 - 127,965,173 (-)NCBI
T2T-CHM13v2.04131,220,831 - 131,269,215 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371592   ⟹   NP_001358521
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,917,805 - 127,965,173 (-)NCBI
T2T-CHM13v2.04131,220,831 - 131,269,215 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371593   ⟹   NP_001358522
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,917,805 - 127,965,173 (-)NCBI
T2T-CHM13v2.04131,220,831 - 131,269,215 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371594   ⟹   NP_001358523
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,917,805 - 127,965,173 (-)NCBI
T2T-CHM13v2.04131,220,831 - 131,269,215 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371595   ⟹   NP_001358524
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,917,732 - 127,965,173 (-)NCBI
T2T-CHM13v2.04131,220,758 - 131,269,215 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371596   ⟹   NP_001358525
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,917,805 - 127,965,173 (-)NCBI
T2T-CHM13v2.04131,220,831 - 131,269,215 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001410765   ⟹   NP_001397694
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,917,805 - 127,965,963 (-)NCBI
T2T-CHM13v2.04131,220,831 - 131,270,005 (-)NCBI
RefSeq Acc Id: NM_001410766   ⟹   NP_001397695
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,917,805 - 127,965,173 (-)NCBI
T2T-CHM13v2.04131,220,831 - 131,269,215 (-)NCBI
RefSeq Acc Id: NM_152778   ⟹   NP_689991
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,917,805 - 127,965,963 (-)NCBI
GRCh374128,838,960 - 128,887,185 (-)NCBI
Build 364129,061,027 - 129,106,554 (-)NCBI Archive
HuRef4124,566,671 - 124,619,214 (-)ENTREZGENE
CHM1_14128,815,418 - 128,863,591 (-)NCBI
T2T-CHM13v2.04131,220,831 - 131,270,005 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262898   ⟹   XP_005262955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,921,515 - 127,965,208 (-)NCBI
GRCh374128,838,960 - 128,887,185 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017007989   ⟹   XP_016863478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,921,515 - 127,965,208 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453982   ⟹   XP_024309750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,917,732 - 127,965,963 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047449992   ⟹   XP_047305948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,917,732 - 127,965,963 (-)NCBI
RefSeq Acc Id: XM_047449993   ⟹   XP_047305949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,917,732 - 127,965,963 (-)NCBI
RefSeq Acc Id: XM_047449994   ⟹   XP_047305950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,921,515 - 127,965,208 (-)NCBI
RefSeq Acc Id: XM_047449995   ⟹   XP_047305951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,921,515 - 127,965,963 (-)NCBI
RefSeq Acc Id: XM_047449997   ⟹   XP_047305953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,930,772 - 127,965,208 (-)NCBI
RefSeq Acc Id: XM_047449998   ⟹   XP_047305954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,921,515 - 127,965,963 (-)NCBI
RefSeq Acc Id: XM_047449999   ⟹   XP_047305955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,930,772 - 127,965,963 (-)NCBI
RefSeq Acc Id: XM_054349563   ⟹   XP_054205538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04131,220,758 - 131,270,005 (-)NCBI
RefSeq Acc Id: XM_054349564   ⟹   XP_054205539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04131,220,758 - 131,270,005 (-)NCBI
RefSeq Acc Id: XM_054349565   ⟹   XP_054205540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04131,220,758 - 131,270,005 (-)NCBI
RefSeq Acc Id: XM_054349566   ⟹   XP_054205541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04131,224,541 - 131,269,250 (-)NCBI
RefSeq Acc Id: XM_054349567   ⟹   XP_054205542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04131,224,541 - 131,269,250 (-)NCBI
RefSeq Acc Id: XM_054349568   ⟹   XP_054205543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04131,224,541 - 131,269,250 (-)NCBI
RefSeq Acc Id: XM_054349569   ⟹   XP_054205544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04131,224,541 - 131,270,005 (-)NCBI
RefSeq Acc Id: XM_054349570   ⟹   XP_054205545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04131,234,808 - 131,269,250 (-)NCBI
RefSeq Acc Id: XM_054349571   ⟹   XP_054205546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04131,224,541 - 131,270,005 (-)NCBI
RefSeq Acc Id: XM_054349572   ⟹   XP_054205547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04131,234,808 - 131,270,005 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001350449 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350450 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358519 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358520 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358521 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358522 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358523 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358524 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358525 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397694 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397695 (Get FASTA)   NCBI Sequence Viewer  
  NP_689991 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262955 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863478 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309750 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305948 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305949 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305950 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305951 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305953 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305954 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305955 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205538 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205539 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205540 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205541 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205542 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205543 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205544 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205545 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205546 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205547 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH29503 (Get FASTA)   NCBI Sequence Viewer  
  BAC11062 (Get FASTA)   NCBI Sequence Viewer  
  BAG37968 (Get FASTA)   NCBI Sequence Viewer  
  BAH11691 (Get FASTA)   NCBI Sequence Viewer  
  BAH11766 (Get FASTA)   NCBI Sequence Viewer  
  BAH11798 (Get FASTA)   NCBI Sequence Viewer  
  BAH11934 (Get FASTA)   NCBI Sequence Viewer  
  EAX05193 (Get FASTA)   NCBI Sequence Viewer  
  EAX05194 (Get FASTA)   NCBI Sequence Viewer  
  EAX05195 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000296468
  ENSP00000296468.3
  ENSP00000421176.2
  ENSP00000425000
  ENSP00000425000.2
  ENSP00000492885.1
  ENSP00000492891.1
  ENSP00000492908.1
  ENSP00000492925
  ENSP00000492925.1
  ENSP00000492960.1
  ENSP00000492966
  ENSP00000492966.1
  ENSP00000492987.1
  ENSP00000492989
  ENSP00000492989.1
  ENSP00000492993.1
  ENSP00000493002.1
  ENSP00000493037.1
  ENSP00000493044.1
  ENSP00000493056
  ENSP00000493056.1
  ENSP00000493083
  ENSP00000493083.1
  ENSP00000493130.1
  ENSP00000493132
  ENSP00000493132.1
  ENSP00000493133
  ENSP00000493133.1
  ENSP00000493134.1
  ENSP00000493141.1
  ENSP00000493174.1
  ENSP00000493191.1
  ENSP00000493192.1
  ENSP00000493194
  ENSP00000493194.1
  ENSP00000493197.1
  ENSP00000493209.1
  ENSP00000493218
  ENSP00000493218.2
  ENSP00000493240.1
  ENSP00000493260
  ENSP00000493260.1
  ENSP00000493261.1
  ENSP00000493277
  ENSP00000493277.1
  ENSP00000493279.1
  ENSP00000493285.1
  ENSP00000493301.1
  ENSP00000493304.1
  ENSP00000493315.1
  ENSP00000493330.1
  ENSP00000493335.1
  ENSP00000493346.1
  ENSP00000493347
  ENSP00000493347.1
  ENSP00000493392.1
  ENSP00000493397.1
  ENSP00000493406.1
  ENSP00000493418.1
  ENSP00000493423.1
  ENSP00000493438.1
  ENSP00000493448.1
  ENSP00000493459
  ENSP00000493459.1
GenBank Protein Q8NHS3 (Get FASTA)   NCBI Sequence Viewer  
  UBT84193 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_689991   ⟸   NM_152778
- Peptide Label: isoform 1
- UniProtKB: B7Z205 (UniProtKB/Swiss-Prot),   B2RDM1 (UniProtKB/Swiss-Prot),   Q8N2P3 (UniProtKB/Swiss-Prot),   Q8NHS3 (UniProtKB/Swiss-Prot),   B7Z2P8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005262955   ⟸   XM_005262898
- Peptide Label: isoform X4
- UniProtKB: A0A286YF73 (UniProtKB/TrEMBL),   B7Z280 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016863478   ⟸   XM_017007989
- Peptide Label: isoform X6
- UniProtKB: A0A286YFM2 (UniProtKB/TrEMBL),   A0A286YFK4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024309750   ⟸   XM_024453982
- Peptide Label: isoform X1
- UniProtKB: A0A286YFI9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001358519   ⟸   NM_001371590
- Peptide Label: isoform 4
- UniProtKB: A0A286YF45 (UniProtKB/TrEMBL),   B7Z2P8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358524   ⟸   NM_001371595
- Peptide Label: isoform 9
- UniProtKB: E7ERQ4 (UniProtKB/TrEMBL),   B7Z2P8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001350450   ⟸   NM_001363521
- Peptide Label: isoform 3
- UniProtKB: A0A286YFF1 (UniProtKB/TrEMBL),   A0A286YFI9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358522   ⟸   NM_001371593
- Peptide Label: isoform 7
- UniProtKB: A0A286YFI8 (UniProtKB/TrEMBL),   A0A286YFI9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001350449   ⟸   NM_001363520
- Peptide Label: isoform 2
- UniProtKB: A0A286YEW8 (UniProtKB/TrEMBL),   A0A286YFI9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358523   ⟸   NM_001371594
- Peptide Label: isoform 8
- UniProtKB: A0A286YFI9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358525   ⟸   NM_001371596
- Peptide Label: isoform 1
- UniProtKB: Q8NHS3 (UniProtKB/Swiss-Prot),   B7Z205 (UniProtKB/Swiss-Prot),   B2RDM1 (UniProtKB/Swiss-Prot),   Q8N2P3 (UniProtKB/Swiss-Prot),   B7Z2P8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358520   ⟸   NM_001371591
- Peptide Label: isoform 5
- UniProtKB: B7Z2P8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358521   ⟸   NM_001371592
- Peptide Label: isoform 6
- UniProtKB: B7Z2P8 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000296468   ⟸   ENST00000296468
RefSeq Acc Id: ENSP00000421176   ⟸   ENST00000509826
RefSeq Acc Id: ENSP00000493347   ⟸   ENST00000641186
RefSeq Acc Id: ENSP00000493192   ⟸   ENST00000641133
RefSeq Acc Id: ENSP00000492925   ⟸   ENST00000641134
RefSeq Acc Id: ENSP00000492989   ⟸   ENST00000641178
RefSeq Acc Id: ENSP00000493133   ⟸   ENST00000641147
RefSeq Acc Id: ENSP00000493392   ⟸   ENST00000641092
RefSeq Acc Id: ENSP00000493346   ⟸   ENST00000641025
RefSeq Acc Id: ENSP00000492993   ⟸   ENST00000641538
RefSeq Acc Id: ENSP00000493459   ⟸   ENST00000641509
RefSeq Acc Id: ENSP00000493209   ⟸   ENST00000641508
RefSeq Acc Id: ENSP00000493304   ⟸   ENST00000641503
RefSeq Acc Id: ENSP00000493335   ⟸   ENST00000641558
RefSeq Acc Id: ENSP00000493132   ⟸   ENST00000641590
RefSeq Acc Id: ENSP00000493141   ⟸   ENST00000641413
RefSeq Acc Id: ENSP00000493448   ⟸   ENST00000641447
RefSeq Acc Id: ENSP00000493279   ⟸   ENST00000641434
RefSeq Acc Id: ENSP00000493277   ⟸   ENST00000641482
RefSeq Acc Id: ENSP00000493438   ⟸   ENST00000641464
RefSeq Acc Id: ENSP00000493397   ⟸   ENST00000641332
RefSeq Acc Id: ENSP00000493037   ⟸   ENST00000641369
RefSeq Acc Id: ENSP00000493191   ⟸   ENST00000641340
RefSeq Acc Id: ENSP00000493406   ⟸   ENST00000641397
RefSeq Acc Id: ENSP00000493197   ⟸   ENST00000641393
RefSeq Acc Id: ENSP00000493083   ⟸   ENST00000641243
RefSeq Acc Id: ENSP00000493194   ⟸   ENST00000641228
RefSeq Acc Id: ENSP00000492908   ⟸   ENST00000641264
RefSeq Acc Id: ENSP00000493418   ⟸   ENST00000641928
RefSeq Acc Id: ENSP00000492891   ⟸   ENST00000641949
RefSeq Acc Id: ENSP00000493301   ⟸   ENST00000641882
RefSeq Acc Id: ENSP00000493044   ⟸   ENST00000641870
RefSeq Acc Id: ENSP00000493423   ⟸   ENST00000641869
RefSeq Acc Id: ENSP00000493174   ⟸   ENST00000641843
RefSeq Acc Id: ENSP00000493002   ⟸   ENST00000641830
RefSeq Acc Id: ENSP00000492960   ⟸   ENST00000641774
RefSeq Acc Id: ENSP00000493261   ⟸   ENST00000641776
RefSeq Acc Id: ENSP00000493240   ⟸   ENST00000641753
RefSeq Acc Id: ENSP00000493330   ⟸   ENST00000641748
RefSeq Acc Id: ENSP00000493130   ⟸   ENST00000641743
RefSeq Acc Id: ENSP00000493315   ⟸   ENST00000641742
RefSeq Acc Id: ENSP00000492987   ⟸   ENST00000641658
RefSeq Acc Id: ENSP00000493134   ⟸   ENST00000641695
RefSeq Acc Id: ENSP00000492966   ⟸   ENST00000641690
RefSeq Acc Id: ENSP00000493218   ⟸   ENST00000641686
RefSeq Acc Id: ENSP00000493260   ⟸   ENST00000642042
RefSeq Acc Id: ENSP00000493285   ⟸   ENST00000642034
RefSeq Acc Id: ENSP00000492885   ⟸   ENST00000642078
RefSeq Acc Id: ENSP00000425000   ⟸   ENST00000513559
RefSeq Acc Id: ENSP00000493056   ⟸   ENST00000515130
RefSeq Acc Id: XP_047305949   ⟸   XM_047449993
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047305948   ⟸   XM_047449992
- Peptide Label: isoform X2
- UniProtKB: E7ERQ4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305954   ⟸   XM_047449998
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047305951   ⟸   XM_047449995
- Peptide Label: isoform X7
- UniProtKB: A0A286YEX1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305950   ⟸   XM_047449994
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047305955   ⟸   XM_047449999
- Peptide Label: isoform X10
- UniProtKB: B7Z2B2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305953   ⟸   XM_047449997
- Peptide Label: isoform X8
- UniProtKB: A0A286YFC6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397694   ⟸   NM_001410765
- Peptide Label: isoform 10
- UniProtKB: A0A286YFB5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397695   ⟸   NM_001410766
- Peptide Label: isoform 11
- UniProtKB: A0A286YF72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054205538   ⟸   XM_054349563
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054205540   ⟸   XM_054349565
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054205539   ⟸   XM_054349564
- Peptide Label: isoform X2
- UniProtKB: E7ERQ4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054205546   ⟸   XM_054349571
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054205544   ⟸   XM_054349569
- Peptide Label: isoform X7
- UniProtKB: A0A286YEX1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054205543   ⟸   XM_054349568
- Peptide Label: isoform X6
- UniProtKB: A0A286YFM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054205542   ⟸   XM_054349567
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054205541   ⟸   XM_054349566
- Peptide Label: isoform X4
- UniProtKB: A0A286YF73 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054205547   ⟸   XM_054349572
- Peptide Label: isoform X10
- UniProtKB: B7Z2B2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054205545   ⟸   XM_054349570
- Peptide Label: isoform X8
- UniProtKB: A0A286YFC6 (UniProtKB/TrEMBL)
Protein Domains
Major facilitator superfamily (MFS) profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NHS3-F1-model_v2 AlphaFold Q8NHS3 1-518 view protein structure

Promoters
RGD ID:6868448
Promoter ID:EPDNEW_H7389
Type:initiation region
Name:MFSD8_1
Description:major facilitator superfamily domain containing 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7392  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,965,148 - 127,965,208EPDNEW
RGD ID:6868454
Promoter ID:EPDNEW_H7392
Type:initiation region
Name:MFSD8_2
Description:major facilitator superfamily domain containing 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7389  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384127,965,949 - 127,966,009EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28486 AgrOrtholog
COSMIC MFSD8 COSMIC
Ensembl Genes ENSG00000164073 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000296468 ENTREZGENE
  ENST00000296468.8 UniProtKB/Swiss-Prot
  ENST00000509826.2 UniProtKB/TrEMBL
  ENST00000513559 ENTREZGENE
  ENST00000513559.6 UniProtKB/TrEMBL
  ENST00000515130 ENTREZGENE
  ENST00000515130.6 UniProtKB/TrEMBL
  ENST00000641025.1 UniProtKB/TrEMBL
  ENST00000641092.1 UniProtKB/TrEMBL
  ENST00000641133.1 UniProtKB/TrEMBL
  ENST00000641134 ENTREZGENE
  ENST00000641134.1 UniProtKB/TrEMBL
  ENST00000641147 ENTREZGENE
  ENST00000641147.1 UniProtKB/TrEMBL
  ENST00000641178 ENTREZGENE
  ENST00000641178.1 UniProtKB/TrEMBL
  ENST00000641186 ENTREZGENE
  ENST00000641186.1 UniProtKB/TrEMBL
  ENST00000641228 ENTREZGENE
  ENST00000641228.1 UniProtKB/TrEMBL
  ENST00000641243 ENTREZGENE
  ENST00000641243.1 UniProtKB/TrEMBL
  ENST00000641264.1 UniProtKB/TrEMBL
  ENST00000641332.1 UniProtKB/TrEMBL
  ENST00000641340.1 UniProtKB/TrEMBL
  ENST00000641369.1 UniProtKB/TrEMBL
  ENST00000641393.1 UniProtKB/TrEMBL
  ENST00000641397.1 UniProtKB/TrEMBL
  ENST00000641413.1 UniProtKB/TrEMBL
  ENST00000641434.1 UniProtKB/Swiss-Prot
  ENST00000641447.1 UniProtKB/TrEMBL
  ENST00000641464.1 UniProtKB/Swiss-Prot
  ENST00000641482 ENTREZGENE
  ENST00000641482.1 UniProtKB/TrEMBL
  ENST00000641503.1 UniProtKB/TrEMBL
  ENST00000641508.1 UniProtKB/TrEMBL
  ENST00000641509 ENTREZGENE
  ENST00000641509.1 UniProtKB/TrEMBL
  ENST00000641538.1 UniProtKB/TrEMBL
  ENST00000641558.1 UniProtKB/TrEMBL
  ENST00000641590 ENTREZGENE
  ENST00000641590.1 UniProtKB/TrEMBL
  ENST00000641658.1 UniProtKB/TrEMBL
  ENST00000641686 ENTREZGENE
  ENST00000641686.2 UniProtKB/Swiss-Prot
  ENST00000641690 ENTREZGENE
  ENST00000641690.1 UniProtKB/TrEMBL
  ENST00000641695.1 UniProtKB/TrEMBL
  ENST00000641742.1 UniProtKB/TrEMBL
  ENST00000641743.1 UniProtKB/TrEMBL
  ENST00000641748.1 UniProtKB/Swiss-Prot
  ENST00000641753.1 UniProtKB/TrEMBL
  ENST00000641774.1 UniProtKB/TrEMBL
  ENST00000641776.1 UniProtKB/TrEMBL
  ENST00000641830.1 UniProtKB/TrEMBL
  ENST00000641843.1 UniProtKB/TrEMBL
  ENST00000641869.1 UniProtKB/TrEMBL
  ENST00000641870.1 UniProtKB/TrEMBL
  ENST00000641882.1 UniProtKB/TrEMBL
  ENST00000641928.1 UniProtKB/Swiss-Prot
  ENST00000641949.1 UniProtKB/TrEMBL
  ENST00000642034.1 UniProtKB/TrEMBL
  ENST00000642042 ENTREZGENE
  ENST00000642042.1 UniProtKB/TrEMBL
  ENST00000642078.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164073 GTEx
HGNC ID HGNC:28486 ENTREZGENE
Human Proteome Map MFSD8 Human Proteome Map
InterPro MFS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_trans_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tet-R_TetA/multi-R_MdtG UniProtKB/TrEMBL
KEGG Report hsa:256471 UniProtKB/Swiss-Prot
NCBI Gene 256471 ENTREZGENE
OMIM 611124 OMIM
PANTHER INNER MEMBRANE TRANSPORT PROTEIN YAJR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MFS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162395842 PharmGKB
PRINTS TCRTETA UniProtKB/TrEMBL
PROSITE MFS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A286YER2_HUMAN UniProtKB/TrEMBL
  A0A286YEV4_HUMAN UniProtKB/TrEMBL
  A0A286YEV9_HUMAN UniProtKB/TrEMBL
  A0A286YEW2_HUMAN UniProtKB/TrEMBL
  A0A286YEW6_HUMAN UniProtKB/TrEMBL
  A0A286YEW7_HUMAN UniProtKB/TrEMBL
  A0A286YEW8 ENTREZGENE, UniProtKB/TrEMBL
  A0A286YEX1 ENTREZGENE, UniProtKB/TrEMBL
  A0A286YEY8_HUMAN UniProtKB/TrEMBL
  A0A286YF00_HUMAN UniProtKB/TrEMBL
  A0A286YF45 ENTREZGENE, UniProtKB/TrEMBL
  A0A286YF51_HUMAN UniProtKB/TrEMBL
  A0A286YF72 ENTREZGENE, UniProtKB/TrEMBL
  A0A286YF73 ENTREZGENE, UniProtKB/TrEMBL
  A0A286YF82_HUMAN UniProtKB/TrEMBL
  A0A286YF93_HUMAN UniProtKB/TrEMBL
  A0A286YFB5 ENTREZGENE, UniProtKB/TrEMBL
  A0A286YFC6 ENTREZGENE, UniProtKB/TrEMBL
  A0A286YFE6_HUMAN UniProtKB/TrEMBL
  A0A286YFE7_HUMAN UniProtKB/TrEMBL
  A0A286YFF1 ENTREZGENE, UniProtKB/TrEMBL
  A0A286YFF5_HUMAN UniProtKB/TrEMBL
  A0A286YFG7_HUMAN UniProtKB/TrEMBL
  A0A286YFH3_HUMAN UniProtKB/TrEMBL
  A0A286YFH9_HUMAN UniProtKB/TrEMBL
  A0A286YFI8 ENTREZGENE, UniProtKB/TrEMBL
  A0A286YFI9 ENTREZGENE, UniProtKB/TrEMBL
  A0A286YFJ5_HUMAN UniProtKB/TrEMBL
  A0A286YFK4 ENTREZGENE, UniProtKB/TrEMBL
  A0A286YFM2 ENTREZGENE, UniProtKB/TrEMBL
  A0A286YFM7_HUMAN UniProtKB/TrEMBL
  B2RDM1 ENTREZGENE
  B7Z205 ENTREZGENE
  B7Z280 ENTREZGENE, UniProtKB/TrEMBL
  B7Z2B2 ENTREZGENE, UniProtKB/TrEMBL
  B7Z2P8 ENTREZGENE, UniProtKB/TrEMBL
  E7ERQ4 ENTREZGENE, UniProtKB/TrEMBL
  MFSD8_HUMAN UniProtKB/Swiss-Prot
  Q8N2P3 ENTREZGENE
  Q8NHS3 ENTREZGENE
UniProt Secondary B2RDM1 UniProtKB/Swiss-Prot
  B7Z205 UniProtKB/Swiss-Prot
  Q8N2P3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-25 MFSD8  major facilitator superfamily domain containing 8  CLN7  ceroid-lipofuscinosis, neuronal 7, late infantile, variant  Data merged from RGD:1343617 737654 PROVISIONAL