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Input query
Recognized gene
MFSD8
Normalized c.HGVS
c.1006G>A, c.1010G>A, c.1036G>A, c.1043G>C, c.104G>A and 32 more
Normalized p.HGVS
p.(=), p.(Ala117Gly), p.(Ala218Thr), p.(Ala2Val), p.(Arg236Cys) and 32 more
Matching records
78
PM3-positive records
16

Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.

Download current query results as TSV
Gene Variant Evidence PM3 context Publication Reviewed source Actions
MFSD8 NM_001371596.2:c.291G>C Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1006G>C; p.Glu336Gln
context: Confirmed in trans
 40535027
Exclusively Macular Phenotype of Non-Syndromic MFSD8-Related Disease: A Case Report.
Case reports in ophthalmology, 2025
 Main article
Open
MFSD8 NM_001371596.2:c.1006G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.1351–1G>A
context: Compound heterozygous candidate
 39563673
Phenotypic variability observed in a Chinese patient cohort with biallelic variants in the CLN genes.
Molecular vision, 2024
 Main article
Open
MFSD8 NM_001371596.2:c.1006G>A Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with c.1394G>A; c.1444C>T; c.750A>G; +3 more
context: Compound heterozygous candidate
 39108195
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants.
Molecular genetics & genomic medicine, 2024
 Main article
Open
MFSD8 NM_001371596.2:c.104G>A Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 38978590
Neuronal Ceroid Lipofuscinoses Type 7 (CLN7)- A Case Series Reporting Cross Sectional and Retrospective Clinical Data to Evaluate Validity of Standardized Tools to Assess Disease Progression, Quality of Life, and Adaptive Skills.
Research square, 2024
 Main article
Open
MFSD8 NM_001371596.2:c.1408A>G Phase-unconfirmed biallelic evidence
High confidence
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
 38978590
Neuronal Ceroid Lipofuscinoses Type 7 (CLN7)- A Case Series Reporting Cross Sectional and Retrospective Clinical Data to Evaluate Validity of Standardized Tools to Assess Disease Progression, Quality of Life, and Adaptive Skills.
Research square, 2024
 Main article
Open
MFSD8 NM_001371596.2:c.753A>G Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 37012327
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.
European journal of human genetics : EJHG, 2024
 Main article
Open
MFSD8 NM_001371596.2:c.753A>G Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 37090936
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency.
Neurology. Genetics, 2023
 Main article
Open
MFSD8 NM_001371596.2:c.154G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.1006G>C; c.863+3_4insT; p.(Gluc336Gln); +1 more
context: Compound heterozygous candidate
 36912596
Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes.
Investigative ophthalmology & visual science, 2023
 Main article
Open
MFSD8 NM_001371596.2:c.1006G>A Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with c.750A > G
context: Compound heterozygous candidate
 36833170
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.
Genes, 2023
 Main article
Open
MFSD8 NM_001371596.2:c.104G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.155G > C; Gly52Ala
context: Compound heterozygous candidate
 36833170
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.
Genes, 2023
 Main article
Open
MFSD8 NM_001371596.2:c.1408A>G Phase-unconfirmed biallelic evidence
High confidence
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
 36833170
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.
Genes, 2023
 Main article
Open
MFSD8 NM_001371596.2:c.154G>A Phase-unconfirmed biallelic evidence
High confidence
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
 36833170
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.
Genes, 2023
 Main article
Open
MFSD8 NM_001371596.2:c.1006G>A Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with c.750A>G; p.[Arg233Serfs*5,=]
context: Compound heterozygous candidate
 35457110
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
International journal of molecular sciences, 2022
 Main article
Open
MFSD8 NM_001371596.2:c.104G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.1265C>A; c.155G>C; p.(Gly52Ala); +1 more
context: Compound heterozygous candidate
 35457110
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
International journal of molecular sciences, 2022
 Main article
Open
MFSD8 NM_001371596.2:c.154G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.1265C>A; p.(Ser422*)
context: Compound heterozygous candidate
 35457110
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
International journal of molecular sciences, 2022
 Main article
Open
MFSD8 NM_001371596.2:c.291G>C Phase-unconfirmed biallelic evidence
Needs review
Confirmed in trans with c.999 G > A; K333
context: Confirmed in trans
 28794409
Annotating pathogenic non-coding variants in genic regions.
Nature communications, 2017
 Main article
Open
MFSD8 NM_001371596.2:c.1006G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 38978590
Neuronal Ceroid Lipofuscinoses Type 7 (CLN7)- A Case Series Reporting Cross Sectional and Retrospective Clinical Data to Evaluate Validity of Standardized Tools to Assess Disease Progression, Quality of Life, and Adaptive Skills.
Research square, 2024
 Main article
Open
MFSD8 NM_001371596.2:c.706C>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 36484990
Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
JAMA network open, 2022
 Main article and supplement
Open
MFSD8 NM_001371596.2:c.1420C>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 35495172
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Frontiers in genetics, 2022
 Main article and supplement
Open
MFSD8 NM_001371596.2:c.1006G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 34910516
CLN7 is an organellar chloride channel regulating lysosomal function.
Science advances, 2021
 Main article and supplement
Open