MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Neuronal Ceroid-Lipofuscinoses (D009472)
..Starting node ..Ceroid Lipofuscinosis, Neuronal, 7 (C563989)
Child Nodes:
Sister Nodes:
..Ceroid lipofuscinosis, neuronal 1, infantile (C537948)
..Ceroid lipofuscinosis, neuronal 5 (C575534)
..Ceroid lipofuscinosis, neuronal 8 (C537952)
..Ceroid lipofuscinosis, neuronal 9 (C537953)
..Ceroid Lipofuscinosis, Neuronal, 1 (C564953)
..Ceroid Lipofuscinosis, Neuronal, 10 (C566438)
..CEROID LIPOFUSCINOSIS, NEURONAL, 11 (OMIM:614706)
..CEROID LIPOFUSCINOSIS, NEURONAL, 13 (OMIM:615362)
..Ceroid Lipofuscinosis, Neuronal, 2 (C566857)
..Ceroid Lipofuscinosis, Neuronal, 6 (C566627)
..Ceroid Lipofuscinosis, Neuronal, 7 (C563989)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

2144

Name:

Ceroid Lipofuscinosis, Neuronal, 7

Definition:

Alternative IDs:

OMIM:610951

ParentIDs:

MESH:D009472

TreeNumbers:

C10.574.500.550/C563989 |C16.320.400.600/C563989 |C16.320.565.398.641.509/C563989 |C18.452.584.687.509/C563989 |C18.452.648.398.641.509/C563989

Synonyms:

CLN7

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: C563989
MeSH: C563989
OMIM: 610951;
MSeqDR :
Genes: EXT1; MFSD8;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003621	Juvenile onset
3	HP:0001251	Ataxia
4	HP:0000618	Blindness
5	HP:0001272	Cerebellar atrophy
6	HP:0002059	Cerebral atrophy
7	HP:0000750	Delayed speech and language development NAMDC: Delayed language
8	HP:0002353	EEG abnormality
9	HP:0002123	Generalized myoclonic seizures
10	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
11	HP:0001263	Global developmental delay NAMDC: Mental retardation
12	HP:0001268	Mental deterioration
13	HP:0002180	Neurodegeneration
14	HP:0000648	Optic atrophy
15	HP:0000580	Pigmentary retinopathy NAMDC: Pigmentary retinopathy
16	HP:0003678	Rapidly progressive
17	HP:0000488	Retinopathy
18	HP:0002360	Sleep disturbance
19	HP:0000572	Visual loss

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000004.11:g.(?_128804417)_(129131208_?)dup	-1	ABHD18;LARP1B;MFSD8;PLK4	Uncertain significance	-1	RCV000708382\|RCV001305226;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:C3661900	4	128804417	129131208		-
NC_000004.11:g.(?_128544537)_(129131208_?)del	256471	MFSD8	Pathogenic	-1	RCV001381476;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128544537	129131208	-1	-
NC_000004.11:g.(?_128802290)_(128886288_?)dup	256471	MFSD8	Uncertain significance	-1	RCV003113745;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128802290	128886288		-
NM_001371596.2(MFSD8):c.*2689T>C	256471	MFSD8	Likely benign	189321020	RCV000346342;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839096	128839096	4:g.128839096A>G	ClinGen:CA10620062	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.*2683C>T	256471	MFSD8	Uncertain significance	886059063	RCV000396699;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839102	128839102	4:g.128839102G>A	ClinGen:CA10617917	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.*2613T>C	256471	MFSD8	Uncertain significance	539367239	RCV000302087;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839172	128839172	4:g.128839172A>G	ClinGen:CA10620063	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.*2592A>G	256471	MFSD8	Uncertain significance	924357088	RCV001147860;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839193	128839193	4:g.128839193T>C	-
NM_001371596.2(MFSD8):c.*2465A>G	256471	MFSD8	Benign	72616968	RCV000340368;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839320	128839320	4:g.128839320T>C	ClinGen:CA10617045	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.*2464C>T	256471	MFSD8	Benign	114689638	RCV001149400;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839321	128839321	4:g.128839321G>A	-
NM_001371596.2(MFSD8):c.*2405G>A	256471	MFSD8	Benign	11938181	RCV000399822;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839380	128839380	4:g.128839380C>T	ClinGen:CA10617923	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.*2369C>G	256471	MFSD8	Uncertain significance	150664430	RCV001149401;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839416	128839416	4:g.128839416G>C	-
NM_001371596.2(MFSD8):c.*2314G>A	256471	MFSD8	Uncertain significance	1386466120	RCV001149402;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839471	128839471	4:g.128839471C>T	-
NM_001371596.2(MFSD8):c.*2309G>A	256471	MFSD8	Uncertain significance	753944036	RCV001149403;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839476	128839476	4:g.128839476C>T	-
NM_001371596.2(MFSD8):c.*2294G>A	256471	MFSD8	Uncertain significance	924270202	RCV001149404;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839491	128839491	4:g.128839491C>T	-
NM_001371596.2(MFSD8):c.*2270G>C	256471	MFSD8	Uncertain significance	886059064	RCV000353357;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839515	128839515	4:g.128839515C>G	ClinGen:CA10617945	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.*2214A>G	256471	MFSD8	Uncertain significance	886059065	RCV000260445;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839571	128839571	4:g.128839571T>C	ClinGen:CA10620048	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.*2146A>G	256471	MFSD8	Uncertain significance	750676275	RCV001145108;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839639	128839639	4:g.128839639T>C	-
NM_001371596.2(MFSD8):c.*2104T>C	256471	MFSD8	Uncertain significance	139930263	RCV001145109;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839681	128839681	4:g.128839681A>G	-
NM_001371596.2(MFSD8):c.*2021C>T	256471	MFSD8	Uncertain significance	780466040	RCV001145110;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839764	128839764	4:g.128839764G>A	-
NM_001371596.2(MFSD8):c.*2010T>C	256471	MFSD8	Uncertain significance	1736052846	RCV001145111;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839775	128839775	4:g.128839775A>G	-
NM_001371596.2(MFSD8):c.*2006A>C	256471	MFSD8	Uncertain significance	181240021	RCV001145112;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839779	128839779	4:g.128839779T>G	-
NM_001371596.2(MFSD8):c.*1969G>C	256471	MFSD8	Uncertain significance	547746685	RCV001145113;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839816	128839816	4:g.128839816C>G	-
NM_001371596.2(MFSD8):c.*1918T>C	256471	MFSD8	Uncertain significance	1736059247	RCV001145114;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839867	128839867	4:g.128839867A>G	-
NM_001371596.2(MFSD8):c.*1794G>T	256471	MFSD8	Benign	79783621	RCV000299311;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128839991	128839991	4:g.128839991C>A	ClinGen:CA10620064	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.*1709G>C	256471	MFSD8	Uncertain significance	1736073397	RCV001146970;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128840076	128840076	4:g.128840076C>G	-
NM_001371596.2(MFSD8):c.*1680A>G	256471	MFSD8	Uncertain significance	1048664726	RCV001146971;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128840105	128840105	4:g.128840105T>C	-
NM_001371596.2(MFSD8):c.*1603C>T	256471	MFSD8	Uncertain significance	536079775	RCV000356374;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128840182	128840182	4:g.128840182G>A	ClinGen:CA10617947	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.*1515T>A	256471	MFSD8	Benign	74590222	RCV000273423;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128840270	128840270	4:g.128840270A>T	ClinGen:CA10617046	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.*1471T>C	256471	MFSD8	Uncertain significance	886059066	RCV000330962;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128840314	128840314	4:g.128840314A>G	ClinGen:CA10620075	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.*1455G>A	256471	MFSD8	Uncertain significance	979851286	RCV001146972;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128840330	128840330	4:g.128840330C>T	-
NM_001371596.2(MFSD8):c.*1280T>A	256471	MFSD8	Likely benign	146441639	RCV001146973;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128840505	128840505	4:g.128840505A>T	-
NM_001371596.2(MFSD8):c.*1161A>C	256471	MFSD8	Uncertain significance	767418097	RCV000387755;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128840624	128840624	4:g.128840624T>G	ClinGen:CA10617048	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.*1147G>A	256471	MFSD8	Uncertain significance	189901544	RCV001147951;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128840638	128840638	4:g.128840638C>T	-
NM_001371596.2(MFSD8):c.*1058A>G	256471	MFSD8	Uncertain significance	531103173	RCV000277094;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128840727	128840727	4:g.128840727T>C	ClinGen:CA10620060	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.*842T>G	256471	MFSD8	Uncertain significance	1736132516	RCV001147952;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128840943	128840943	4:g.128840943A>C	-
NM_001371596.2(MFSD8):c.*839C>A	256471	MFSD8	Uncertain significance	886059067	RCV000325160;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128840946	128840946	NC_000004.11:g.128840946G>T	ClinGen:CA10617952	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.*734A>G	256471	MFSD8	Uncertain significance	1027710245	RCV001147953;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841051	128841051	4:g.128841051T>C	-
NM_001371596.2(MFSD8):c.*695A>G	256471	MFSD8	Uncertain significance	886059068	RCV000382712;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841090	128841090	NC_000004.11:g.128841090T>C	ClinGen:CA10617049	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.*675T>C	256471	MFSD8	Likely benign	148636320	RCV001147954;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841110	128841110	4:g.128841110A>G	-
NM_001371596.2(MFSD8):c.*533G>A	256471	MFSD8	Benign	11940642	RCV000290581;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841252	128841252	NC_000004.11:g.128841252C>T	ClinGen:CA10617052	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.*492A>T	256471	MFSD8	Likely benign	534206104	RCV000329151;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841293	128841293	NC_000004.11:g.128841293T>A	ClinGen:CA10620079	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.*463A>T	256471	MFSD8	Uncertain significance	181696565	RCV000284581;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841322	128841322	NC_000004.11:g.128841322T>A	ClinGen:CA10620083	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.*427G>C	256471	MFSD8	Benign	142139835	RCV001149495;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841358	128841358	4:g.128841358C>G	-
NM_001371596.2(MFSD8):c.*414C>A	256471	MFSD8	Uncertain significance	566768714	RCV000341970;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841371	128841371	NC_000004.11:g.128841371G>T	ClinGen:CA10617953	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.*369G>A	256471	MFSD8	Uncertain significance	534031511	RCV001149496;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841416	128841416	4:g.128841416C>T	-
NM_001371596.2(MFSD8):c.*258A>C	256471	MFSD8	Likely benign	151190415	RCV000395770\|RCV001562672;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:C3661900	4	128841527	128841527	NC_000004.11:g.128841527T>G	ClinGen:CA10620085	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.*250G>A	256471	MFSD8	Uncertain significance	980825570	RCV001149497;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841535	128841535	4:g.128841535C>T	-
NM_001371596.2(MFSD8):c.*208C>T	256471	MFSD8	Uncertain significance	886059069	RCV000278711;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841577	128841577	NC_000004.11:g.128841577G>A	ClinGen:CA10620086	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NC_000004.12:g.(?_127920610)_(127957612_?)del	256471	MFSD8	Pathogenic	-1	RCV001031045;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841765	128878767	-1	-
NC_000004.12:g.(?_127920610)_(127965153_?)dup	256471	MFSD8	Uncertain significance	-1	RCV001033911;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841765	128886308	-1	-
NC_000004.11:g.(?_128841775)_(128878757_?)del	256471	MFSD8	Pathogenic	-1	RCV001963296;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841775	128878757	-1	-
NC_000004.11:g.(?_128841775)_(128886298_?)del	256471	MFSD8	Pathogenic	-1	RCV003113742;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841775	128886298		-
NC_000004.11:g.(?_128841785)_(128843128_?)del	256471	MFSD8	Pathogenic	-1	RCV001381478;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841785	128843128	-1	-
NM_001371596.2(MFSD8):c.1557A>C (p.Ter519Tyr)	256471	MFSD8	Uncertain significance	2148836666	RCV001904403;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841785	128841785	128841785	-
NC_000004.11:g.(?_128841785)_(128851992_?)del	256471	MFSD8	Pathogenic	-1	RCV003113738;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841785	128851992		-
NC_000004.11:g.(?_128841785)_(128851992_?)dup	256471	MFSD8	Uncertain significance	-1	RCV003113741;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841785	128851992		-
NM_001371596.2(MFSD8):c.1550A>G (p.Gln517Arg)	256471	MFSD8	Uncertain significance	1443934235	RCV001308571;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841792	128841792	128841792	-
NM_001371596.2(MFSD8):c.1538A>G (p.Tyr513Cys)	256471	MFSD8	Uncertain significance	1385542021	RCV001370205;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841804	128841804	128841804	-
NM_001371596.2(MFSD8):c.1535G>A (p.Arg512Lys)	256471	MFSD8	Uncertain significance	796052748	RCV000188186\|RCV001272729\|RCV001306456;	N	MedGen:CN517202\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841807	128841807	NC_000004.11:g.128841807C>T	ClinGen:CA315993	CN169374 not specified;
NM_001371596.2(MFSD8):c.1534A>G (p.Arg512Gly)	256471	MFSD8	Uncertain significance	745541140	RCV001988376;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841808	128841808	128841808	-
NM_001371596.2(MFSD8):c.1533A>G (p.Val511=)	256471	MFSD8	Likely benign	2148836761	RCV001585418\|RCV003120643;	N	MedGen:C3661900\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841809	128841809		-
NM_001371596.2(MFSD8):c.1521T>G (p.Ile507Met)	256471	MFSD8	Uncertain significance	779560159	RCV000823804;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841821	128841821	4:g.128841821A>C	-
NM_001371596.2(MFSD8):c.1518C>T (p.Leu506=)	256471	MFSD8	Likely benign	140732035	RCV001458168;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841824	128841824		-
NM_001371596.2(MFSD8):c.1517T>C (p.Leu506Pro)	256471	MFSD8	Uncertain significance	1736211859	RCV001345033;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841825	128841825	128841825	-
NM_001371596.2(MFSD8):c.1516C>G (p.Leu506Val)	256471	MFSD8	Uncertain significance	570757797	RCV000336514\|RCV002523463;	N	MedGen:CN239323\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841826	128841826	NC_000004.11:g.128841826G>C	ClinGen:CA3077215	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.1513A>C (p.Arg505=)	256471	MFSD8	Likely benign	776622815	RCV000605047\|RCV001434018\|RCV002314172;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MeSH:D030342,MedGen:C0950123	4	128841829	128841829		ClinGen:CA3077216	CN169374 not specified;
NM_001371596.2(MFSD8):c.1511A>G (p.Lys504Arg)	256471	MFSD8	Uncertain significance	1736213182	RCV001996629;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841831	128841831	128841831	-
NM_001371596.2(MFSD8):c.1509C>A (p.Tyr503Ter)	256471	MFSD8	Uncertain significance	-1	RCV002865989;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841833	128841833	NC_000004.11:g.128841833G>T	-
NM_001371596.2(MFSD8):c.1495C>T (p.Leu499=)	256471	MFSD8	Likely benign	1553943451	RCV000603637\|RCV002531630;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841847	128841847		ClinGen:CA441209165	CN169374 not specified;
NM_001371596.2(MFSD8):c.1494C>T (p.Leu498=)	256471	MFSD8	Likely benign	769642042	RCV002090979;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841848	128841848		-
NM_001371596.2(MFSD8):c.1490C>T (p.Thr497Ile)	256471	MFSD8	Uncertain significance	-1	RCV003068898;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841852	128841852	NC_000004.11:g.128841852G>A	-
NM_001371596.2(MFSD8):c.1488C>A (p.Ile496=)	256471	MFSD8	Likely benign	2148836936	RCV001400893;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841854	128841854		-
NM_001371596.2(MFSD8):c.1485C>T (p.Thr495=)	256471	MFSD8	Likely benign	2148836945	RCV002135077;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841857	128841857		-
NM_001371596.2(MFSD8):c.1481T>C (p.Leu494Pro)	256471	MFSD8	Uncertain significance	1217401163	RCV001897805;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841861	128841861	128841861	-
NM_001371596.2(MFSD8):c.1480C>T (p.Leu494Phe)	256471	MFSD8	Uncertain significance	-1	RCV003071436;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841862	128841862	NC_000004.11:g.128841862G>A	-
NM_001371596.2(MFSD8):c.1475T>C (p.Ile492Thr)	256471	MFSD8	Uncertain significance	183448311	RCV000691906\|RCV000734485\|RCV001276173\|RCV002544926;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:C3661900\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123	4	128841867	128841867	4:g.128841867A>G	-	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1474A>G (p.Ile492Val)	256471	MFSD8	Uncertain significance	-1	RCV003003349;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841868	128841868	NC_000004.11:g.128841868T>C	-
NM_001371596.2(MFSD8):c.1470A>G (p.Gly490=)	256471	MFSD8	Conflicting interpretations of pathogenicity	1477527807	RCV001145207;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841872	128841872		ClinGen:CA441209228
NM_001371596.2(MFSD8):c.1461G>A (p.Leu487=)	256471	MFSD8	Likely benign	1736221866	RCV002132824;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841881	128841881		-
NM_001371596.2(MFSD8):c.1458_1459delinsAA (p.Ser486_Leu487delinsArgMet)	256471	MFSD8	Uncertain significance	-1	RCV002814866;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841883	128841884	NC_000004.11:g.128841883_128841884delinsTT	-
NM_001371596.2(MFSD8):c.1452A>G (p.Ala484=)	256471	MFSD8	Likely benign	2148837080	RCV001472721;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841890	128841890		-
NM_001371596.2(MFSD8):c.1448G>A (p.Trp483Ter)	256471	MFSD8	Uncertain significance	1216600395	RCV001035438;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841894	128841894	4:g.128841894C>T	-
NM_001371596.2(MFSD8):c.1445G>A (p.Arg482Gln)	256471	MFSD8	Uncertain significance	547726489	RCV000690525\|RCV001830503;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128841897	128841897	NC_000004.11:g.128841897C>T	-	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter)	256471	MFSD8	Pathogenic/Likely pathogenic	724159971	RCV000149777\|RCV000256110\|RCV000763521\|RCV002390318;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366; MONDO:MONDO:0014515,MedGen:C4015371,OMIM:616170\|MeSH:D030342,MedGen:C0950123	4	128841898	128841898	4:g.128841898G>A	ClinGen:CA273061,OMIM:611124.0012	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1441C>G (p.Pro481Ala)	256471	MFSD8	Uncertain significance	-1	RCV002800306;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841901	128841901	NC_000004.11:g.128841901G>C	-
NM_001371596.2(MFSD8):c.1437G>A (p.Trp479Ter)	256471	MFSD8	Pathogenic	2148837137	RCV001358676;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841905	128841905	128841905	-
NM_001371596.2(MFSD8):c.1434C>A (p.His478Gln)	256471	MFSD8	Uncertain significance	2148837142	RCV002047068;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841908	128841908	128841908	-
NM_001371596.2(MFSD8):c.1434C>T (p.His478=)	256471	MFSD8	Likely benign	2148837142	RCV002156800;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841908	128841908		-
NM_001371596.2(MFSD8):c.1433A>T (p.His478Leu)	256471	MFSD8	Uncertain significance	1736225136	RCV001877925;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841909	128841909	128841909	-
NM_001371596.2(MFSD8):c.1431T>G (p.Ala477=)	256471	MFSD8	Likely benign	-1	RCV002894726;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841911	128841911		-
NM_001371596.2(MFSD8):c.1429G>A (p.Ala477Thr)	256471	MFSD8	Uncertain significance	878855229	RCV000227897\|RCV001835736;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128841913	128841913	4:g.128841913C>T	ClinGen:CA10582213	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1428T>C (p.Tyr476=)	256471	MFSD8	Likely benign	1265498848	RCV001449482;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841914	128841914		-
NM_001371596.2(MFSD8):c.1427A>G (p.Tyr476Cys)	256471	MFSD8	Uncertain significance	1291422135	RCV001325249;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841915	128841915	128841915	-
NM_001371596.2(MFSD8):c.1425G>A (p.Val475=)	256471	MFSD8	Likely benign	1736226991	RCV002143974;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841917	128841917		-
NM_001371596.2(MFSD8):c.1423G>C (p.Val475Leu)	256471	MFSD8	Conflicting interpretations of pathogenicity	528664888	RCV001218693\|RCV001560430;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:C3661900	4	128841919	128841919	4:g.128841919C>G	-
NM_001371596.2(MFSD8):c.1420C>T (p.Gln474Ter)	256471	MFSD8	Conflicting interpretations of pathogenicity	370663969	RCV002250114\|RCV003126205;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:C3661900	4	128841922	128841922	128841922	-
NM_001371596.2(MFSD8):c.1420C>G (p.Gln474Glu)	256471	MFSD8	Uncertain significance	-1	RCV002619472\|RCV003232818;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:CN517202	4	128841922	128841922	NC_000004.11:g.128841922G>C	-
NM_001371596.2(MFSD8):c.1418G>A (p.Ser473Asn)	256471	MFSD8	Uncertain significance	-1	RCV002578780;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841924	128841924	NC_000004.11:g.128841924C>T	-
NM_001371596.2(MFSD8):c.1417A>G (p.Ser473Gly)	256471	MFSD8	Uncertain significance	1736228639	RCV002046400;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841925	128841925	128841925	-
NM_001371596.2(MFSD8):c.1416C>T (p.Ile472=)	256471	MFSD8	Likely benign	1473670776	RCV000841444\|RCV001497698;	N	MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841926	128841926		-
NM_001371596.2(MFSD8):c.1415T>A (p.Ile472Asn)	256471	MFSD8	Uncertain significance	-1	RCV002721258;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841927	128841927	NC_000004.11:g.128841927A>T	-
NM_001371596.2(MFSD8):c.1412del (p.Phe471fs)	256471	MFSD8	Pathogenic	-1	RCV002825465;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841930	128841930	NC_000004.11:g.128841931del	-
NM_001371596.2(MFSD8):c.1408A>G (p.Met470Val)	256471	MFSD8	Uncertain significance	764549054	RCV000188184\|RCV000693756\|RCV001833124\|RCV002228826;	N	MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MedGen:CN169374	4	128841934	128841934	4:g.128841934T>C	ClinGen:CA315990,UniProtKB:Q8NHS3#VAR_066919	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1404G>C (p.Gly468=)	256471	MFSD8	Likely benign	2148837253	RCV002077612;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841938	128841938		-
NM_001371596.2(MFSD8):c.1403G>A (p.Gly468Glu)	256471	MFSD8	Uncertain significance	1560715852	RCV000712299\|RCV001214251;	N	MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841939	128841939	NC_000004.11:g.128841939C>T	-
NM_001371596.2(MFSD8):c.1401T>A (p.Leu467=)	256471	MFSD8	Likely benign	-1	RCV002825676;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841941	128841941		-
NM_001371596.2(MFSD8):c.1399C>A (p.Leu467Ile)	256471	MFSD8	Uncertain significance	754100928	RCV001367718;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841943	128841943	128841943	-
NM_001371596.2(MFSD8):c.1394G>A (p.Arg465Gln)	256471	MFSD8	Conflicting interpretations of pathogenicity	1275962600	RCV001263428\|RCV002272437;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:CN517202	4	128841948	128841948	4:g.128841948C>T	-
NM_001371596.2(MFSD8):c.1393C>T (p.Arg465Trp)	256471	MFSD8	Conflicting interpretations of pathogenicity	1043984708	RCV001050490\|RCV002469331;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	4	128841949	128841949	4:g.128841949G>A	-
NM_001371596.2(MFSD8):c.1392C>T (p.Ala464=)	256471	MFSD8	Likely benign	-1	RCV003086877;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841950	128841950		-
NM_001371596.2(MFSD8):c.1391C>T (p.Ala464Val)	256471	MFSD8	Uncertain significance	758095101	RCV001300711\|RCV001835436;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128841951	128841951	128841951	-
NM_001371596.2(MFSD8):c.1390G>A (p.Ala464Thr)	256471	MFSD8	Likely pathogenic	-1	RCV003074828;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841952	128841952	NC_000004.11:g.128841952C>T	-
NM_001371596.2(MFSD8):c.1387G>A (p.Gly463Arg)	256471	MFSD8	Uncertain significance	-1	RCV003091295;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841955	128841955	NC_000004.11:g.128841955C>T	-
NM_001371596.2(MFSD8):c.1383A>C (p.Gly461=)	256471	MFSD8	Likely benign	-1	RCV002746523;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841959	128841959		-
NM_001371596.2(MFSD8):c.1378T>C (p.Ser460Pro)	256471	MFSD8	Uncertain significance	-1	RCV003109028;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841964	128841964	NC_000004.11:g.128841964A>G	-
NM_001371596.2(MFSD8):c.1377A>G (p.Ala459=)	256471	MFSD8	Likely benign	185047041	RCV001418387\|RCV001577900\|RCV002384619;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	4	128841965	128841965		-
NM_001371596.2(MFSD8):c.1354_1369del (p.Gly451_Val452insTer)	256471	MFSD8	Pathogenic	2148837382	RCV001844374;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841973	128841988	128841972	-
NM_001371596.2(MFSD8):c.1351-1G>A	256471	MFSD8	Conflicting interpretations of pathogenicity	565253666	RCV001814504\|RCV002568933;	N	Human Phenotype Ontology:HP:0000707,Human Phenotype Ontology:HP:0001333,Human Phenotype Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841992	128841992	128841992	-
NM_001371596.2(MFSD8):c.1351-5A>G	256471	MFSD8	Likely benign	1560716066	RCV001421503;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841996	128841996	128841996	-
NM_001371596.2(MFSD8):c.1351-6C>T	256471	MFSD8	Likely benign	1288349006	RCV001455392;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841997	128841997	128841997	-
NM_001371596.2(MFSD8):c.1351-6del	256471	MFSD8	Benign	777941105	RCV001520380;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841997	128841997	128841996	-
NM_001371596.2(MFSD8):c.1351-7C>T	256471	MFSD8	Likely benign	-1	RCV003080332;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841998	128841998	NC_000004.11:g.128841998G>A	-
NM_001371596.2(MFSD8):c.1351-7C>A	256471	MFSD8	Likely benign	-1	RCV002598514;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128841998	128841998	NC_000004.11:g.128841998G>T	-
NM_001371596.2(MFSD8):c.1351-9C>A	256471	MFSD8	Conflicting interpretations of pathogenicity	75039907	RCV000126766\|RCV000462645\|RCV001074091\|RCV001831924;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenoty	4	128842000	128842000	4:g.128842000G>T	ClinGen:CA292094	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1351-9C>T	256471	MFSD8	Benign/Likely benign	75039907	RCV000126767\|RCV000466174\|RCV000675985\|RCV001276174\|RCV002498622;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:C3661900\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MONDO:MONDO:0014515,MedGen:C4015371,OMIM:616170; MONDO:MONDO:0012588,MedGen:C1838571,OMIM:	4	128842000	128842000	4:g.128842000G>A	ClinGen:CA292095	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1351-10C>T	256471	MFSD8	Likely benign	1419970423	RCV002078036;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842001	128842001	128842001	-
NM_001371596.2(MFSD8):c.1350+16T>C	256471	MFSD8	Likely benign	-1	RCV003065203;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842663	128842663	NC_000004.11:g.128842663A>G	-
NM_001371596.2(MFSD8):c.1350+14C>A	256471	MFSD8	Likely benign	1311770324	RCV002137077;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842665	128842665	128842665	-
NM_001371596.2(MFSD8):c.1350+8A>G	256471	MFSD8	Likely benign	1736330551	RCV002105713;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842671	128842671	128842671	-
NM_001371596.2(MFSD8):c.1350+2T>C	256471	MFSD8	Pathogenic/Likely pathogenic	1736332381	RCV001196672;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842677	128842677	4:g.128842677A>G	-
NM_001371596.2(MFSD8):c.1350+1G>A	256471	MFSD8	Pathogenic	-1	RCV002611757;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842678	128842678	NC_000004.11:g.128842678C>T	-
NM_001371596.2(MFSD8):c.1346C>T (p.Pro449Leu)	256471	MFSD8	Uncertain significance	780779080	RCV001913947;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842683	128842683	128842683	-
NM_001371596.2(MFSD8):c.1337del (p.Gly446fs)	256471	MFSD8	Pathogenic	-1	RCV002843233;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842692	128842692	NC_000004.11:g.128842693del	-
NM_001371596.2(MFSD8):c.1335A>G (p.Leu445=)	256471	MFSD8	Likely benign	145518709	RCV001459011;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842694	128842694		-
NM_001371596.2(MFSD8):c.1325C>A (p.Ser442Ter)	256471	MFSD8	Pathogenic	953995815	RCV001388134;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842704	128842704	128842704	-
NM_001371596.2(MFSD8):c.1322A>G (p.Tyr441Cys)	256471	MFSD8	Uncertain significance	749153763	RCV000640470\|RCV001835030\|RCV002386060;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123	4	128842707	128842707	4:g.128842707T>C	ClinGen:CA3077253	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1316_1322del (p.Thr439fs)	256471	MFSD8	Pathogenic	2148839459	RCV001387412;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842707	128842713	128842706	-
NM_001371596.2(MFSD8):c.1320A>G (p.Leu440=)	256471	MFSD8	Likely benign	148864710	RCV000556763\|RCV001718847\|RCV002379299;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	4	128842709	128842709		ClinGen:CA3077254	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1318C>G (p.Leu440Val)	256471	MFSD8	Uncertain significance	879270594	RCV001927276;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842711	128842711	128842711	-
NM_001371596.2(MFSD8):c.1314T>C (p.Tyr438=)	256471	MFSD8	Likely benign	2148839504	RCV001393849;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842715	128842715		-
NM_001371596.2(MFSD8):c.1311C>G (p.Ser437=)	256471	MFSD8	Benign/Likely benign	145453022	RCV000126765\|RCV000477277\|RCV001831923\|RCV002316390\|RCV002498621;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228	4	128842718	128842718		ClinGen:CA292092	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1310C>A (p.Ser437Tyr)	256471	MFSD8	Uncertain significance	1464046484	RCV001327341\|RCV001830386;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128842719	128842719	128842719	-
NM_001371596.2(MFSD8):c.1307T>C (p.Met436Thr)	256471	MFSD8	Uncertain significance	1405931975	RCV001993086;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842722	128842722	128842722	-
NM_001371596.2(MFSD8):c.1291C>G (p.Pro431Ala)	256471	MFSD8	Uncertain significance	2148839575	RCV001363246\|RCV001826024;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128842738	128842738	128842738	-
NM_001371596.2(MFSD8):c.1287C>T (p.Gly429=)	256471	MFSD8	Conflicting interpretations of pathogenicity	138072045	RCV000126764\|RCV000864745\|RCV002381440;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MeSH:D030342,MedGen:C0950123	4	128842742	128842742		ClinGen:CA292090	CN169374 not specified;
NM_001371596.2(MFSD8):c.1287C>G (p.Gly429=)	256471	MFSD8	Likely benign	-1	RCV002632591;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842742	128842742		-
NM_001371596.2(MFSD8):c.1286G>A (p.Gly429Asp)	256471	MFSD8	Pathogenic	118203976	RCV000001057;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842743	128842743	4:g.128842743C>T	OMIM:611124.0002,ClinGen:CA251660,UniProtKB:Q8NHS3#VAR_037180	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1280G>A (p.Gly427Glu)	256471	MFSD8	Uncertain significance	760640742	RCV001145208;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842749	128842749	4:g.128842749C>T	-
NM_001371596.2(MFSD8):c.1278A>G (p.Ile426Met)	256471	MFSD8	Uncertain significance	769272117	RCV000821501\|RCV001272730;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128842751	128842751	4:g.128842751T>C	-
NM_001371596.2(MFSD8):c.1273C>G (p.Leu425Val)	256471	MFSD8	Uncertain significance	1334064077	RCV001916787;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842756	128842756	128842756	-
NM_001371596.2(MFSD8):c.1270G>A (p.Val424Met)	256471	MFSD8	Uncertain significance	910297451	RCV001234179\|RCV001836190\|RCV003284092;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123	4	128842759	128842759	4:g.128842759C>T	-
NM_001371596.2(MFSD8):c.1268C>T (p.Ala423Val)	256471	MFSD8	Benign	3733319	RCV000117617\|RCV000367877\|RCV000675986\|RCV001276175\|RCV002312186;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:C3661900\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123	4	128842761	128842761	4:g.128842761G>A	ClinGen:CA288960,UniProtKB:Q8NHS3#VAR_037179	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.1267G>C (p.Ala423Pro)	256471	MFSD8	Uncertain significance	-1	RCV002775010;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842762	128842762	NC_000004.11:g.128842762C>G	-
NM_001371596.2(MFSD8):c.1265C>T (p.Ser422Leu)	256471	MFSD8	Uncertain significance	1394582555	RCV001870549;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842764	128842764	128842764	-
NM_001371596.2(MFSD8):c.1262C>T (p.Thr421Ile)	256471	MFSD8	Uncertain significance	765587961	RCV000188183\|RCV000705254\|RCV001833123;	N	MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128842767	128842767	4:g.128842767G>A	ClinGen:CA315988	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1258C>T (p.Leu420Phe)	256471	MFSD8	Uncertain significance	1398267947	RCV001941251;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842771	128842771	128842771	-
NM_001371596.2(MFSD8):c.1257C>T (p.Phe419=)	256471	MFSD8	Likely benign	750743360	RCV002178542;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842772	128842772		-
NM_001371596.2(MFSD8):c.1251C>T (p.Ala417=)	256471	MFSD8	Likely benign	1477931820	RCV001429403;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842778	128842778		-
NM_001371596.2(MFSD8):c.1249G>A (p.Ala417Thr)	256471	MFSD8	Uncertain significance	-1	RCV003059164;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842780	128842780	NC_000004.11:g.128842780C>T	-
NM_001371596.2(MFSD8):c.1236G>A (p.Pro412=)	256471	MFSD8	Uncertain significance	-1	RCV002899307;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842793	128842793		-
NM_001371596.2(MFSD8):c.1236G>C (p.Pro412=)	256471	MFSD8	Likely benign	-1	RCV003015517;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842793	128842793		-
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)	256471	MFSD8	Conflicting interpretations of pathogenicity	267607235	RCV000001060\|RCV002222334\|RCV002316184\|RCV002496222\|RCV003137482;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491,Or	4	128842794	128842794	4:g.128842794G>A	ClinGen:CA251664,UniProtKB:Q8NHS3#VAR_072674,OMIM:611124.0005	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1234_1235inv (p.Pro412Gly)	256471	MFSD8	Uncertain significance	-1	RCV001222197;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842794	128842795	NC_000004.11:g.128842794_128842795inv	-
NM_001371596.2(MFSD8):c.1231A>G (p.Thr411Ala)	256471	MFSD8	Uncertain significance	755570201	RCV001962444;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842798	128842798	128842798	-
NM_001371596.2(MFSD8):c.1229dup (p.Tyr410Ter)	256471	MFSD8	Pathogenic	2148839909	RCV001951006;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842799	128842800	128842799	-
NM_001371596.2(MFSD8):c.1228T>C (p.Tyr410His)	256471	MFSD8	Uncertain significance	777361767	RCV001987763\|RCV002361286;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MeSH:D030342,MedGen:C0950123	4	128842801	128842801	128842801	-
NM_001371596.2(MFSD8):c.1227C>T (p.Leu409=)	256471	MFSD8	Likely benign	-1	RCV003026390;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842802	128842802		-
NM_001371596.2(MFSD8):c.1225C>G (p.Leu409Val)	256471	MFSD8	Uncertain significance	-1	RCV002791826;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842804	128842804	NC_000004.11:g.128842804G>C	-
NM_001371596.2(MFSD8):c.1217_1218dup (p.Trp407fs)	256471	MFSD8	Pathogenic	2148839960	RCV001388049;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842810	128842811	128842810	-
NM_001371596.2(MFSD8):c.1218C>T (p.Ala406=)	256471	MFSD8	Likely benign	753832653	RCV001498668;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842811	128842811		-
NM_001371596.2(MFSD8):c.1213C>T (p.Gln405Ter)	256471	MFSD8	Pathogenic/Likely pathogenic	778875017	RCV000987473;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842816	128842816	4:g.128842816G>A	-
NM_001371596.2(MFSD8):c.1208T>A (p.Ile403Asn)	256471	MFSD8	Uncertain significance	-1	RCV002602225;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842821	128842821	NC_000004.11:g.128842821A>T	-
NM_001371596.2(MFSD8):c.1208T>C (p.Ile403Thr)	256471	MFSD8	Uncertain significance	-1	RCV002971216;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842821	128842821	NC_000004.11:g.128842821A>G	-
NM_001371596.2(MFSD8):c.1206G>T (p.Ser402=)	256471	MFSD8	Likely benign	772377066	RCV001409711;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842823	128842823		-
NM_001371596.2(MFSD8):c.1206G>A (p.Ser402=)	256471	MFSD8	Likely benign	772377066	RCV001426871;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842823	128842823		-
NM_001371596.2(MFSD8):c.1205C>T (p.Ser402Leu)	256471	MFSD8	Uncertain significance	200745039	RCV000402254\|RCV000727610\|RCV001276176\|RCV002314069;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:C3661900\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123	4	128842824	128842824	NC_000004.11:g.128842824G>A	ClinGen:CA3077270	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.1196C>T (p.Thr399Ile)	256471	MFSD8	Uncertain significance	-1	RCV003121563;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842833	128842833	NC_000004.11:g.128842833G>A	-
NM_001371596.2(MFSD8):c.1190G>T (p.Arg397Ile)	256471	MFSD8	Uncertain significance	1736357135	RCV001309750;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842839	128842839	128842839	-
NM_001371596.2(MFSD8):c.1179T>C (p.Asp393=)	256471	MFSD8	Likely benign	-1	RCV003024182;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842850	128842850		-
NM_001371596.2(MFSD8):c.1178A>T (p.Asp393Val)	256471	MFSD8	Uncertain significance	762336516	RCV001933654\|RCV002560547;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MeSH:D030342,MedGen:C0950123	4	128842851	128842851	128842851	-
NM_001371596.2(MFSD8):c.1176A>C (p.Glu392Asp)	256471	MFSD8	Uncertain significance	-1	RCV002613323;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842853	128842853	NC_000004.11:g.128842853T>G	-
NM_001371596.2(MFSD8):c.1174G>A (p.Glu392Lys)	256471	MFSD8	Uncertain significance	773610115	RCV000188193\|RCV001828007\|RCV002510566;	N	MedGen:CN517202\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842855	128842855	NC_000004.11:g.128842855C>T	ClinGen:CA316004	CN169374 not specified;
NM_001371596.2(MFSD8):c.1172T>C (p.Met391Thr)	256471	MFSD8	Uncertain significance	-1	RCV002592289;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842857	128842857	NC_000004.11:g.128842857A>G	-
NM_001371596.2(MFSD8):c.1171A>G (p.Met391Val)	256471	MFSD8	Uncertain significance	-1	RCV002624151;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842858	128842858	NC_000004.11:g.128842858T>C	-
NM_001371596.2(MFSD8):c.1170A>G (p.Pro390=)	256471	MFSD8	Likely benign	2148840190	RCV002079552;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842859	128842859		-
NM_001371596.2(MFSD8):c.1168C>G (p.Pro390Ala)	256471	MFSD8	Uncertain significance	767262517	RCV001978850;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842861	128842861	128842861	-
NM_001371596.2(MFSD8):c.1158_1167del (p.Trp387fs)	256471	MFSD8	Pathogenic	2148840216	RCV001952244;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842862	128842871	128842861	-
NM_001371596.2(MFSD8):c.1161G>C (p.Trp387Cys)	256471	MFSD8	Uncertain significance	-1	RCV002985707;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842868	128842868	NC_000004.11:g.128842868C>G	-
NM_001371596.2(MFSD8):c.1155T>C (p.Gly385=)	256471	MFSD8	Likely benign	1736362173	RCV002073721;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842874	128842874		-
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg)	256471	MFSD8	Benign/Likely benign	11098943	RCV000117616\|RCV000456677\|RCV000675987\|RCV001276177\|RCV002312185;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:C3661900\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123	4	128842876	128842876	4:g.128842876C>G	ClinGen:CA153693,UniProtKB:Q8NHS3#VAR_037178	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1151T>C (p.Ile384Thr)	256471	MFSD8	Uncertain significance	-1	RCV003077335;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842878	128842878	NC_000004.11:g.128842878A>G	-
NM_001371596.2(MFSD8):c.1149T>C (p.Ile383=)	256471	MFSD8	Likely benign	-1	RCV003005371;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842880	128842880		-
NM_001371596.2(MFSD8):c.1146T>A (p.Ile382=)	256471	MFSD8	Likely benign	2148840260	RCV001472961;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842883	128842883		-
NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter)	256471	MFSD8	Pathogenic	724159970	RCV000149773\|RCV000149772\|RCV000481423\|RCV001276178\|RCV002483295\|RCV002453475;	N	MONDO:MONDO:0014515,MedGen:C4015371,OMIM:616170\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:CN517202\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:	4	128842888	128842888	NC_000004.11:g.128842888C>A	ClinGen:CA175006,OMIM:611124.0009	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1136T>C (p.Phe379Ser)	256471	MFSD8	Uncertain significance	191172038	RCV000188181\|RCV000474440\|RCV001256101\|RCV001272731\|RCV002321757\|RCV002500574\|RCV003155112;	N	MedGen:C3661900\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenoty	4	128842893	128842893	4:g.128842893A>G	ClinGen:CA315984	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1135T>A (p.Phe379Ile)	256471	MFSD8	Uncertain significance	-1	RCV002616321;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842894	128842894	NC_000004.11:g.128842894A>T	-
NM_001371596.2(MFSD8):c.1131C>T (p.Thr377=)	256471	MFSD8	Likely benign	760689362	RCV002185818;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842898	128842898		-
NM_001371596.2(MFSD8):c.1124del (p.Pro375fs)	256471	MFSD8	Pathogenic/Likely pathogenic	1578794927	RCV000987474\|RCV002497278;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366; MONDO:MONDO:0014515,MedGen:C4015371,OMIM:616170	4	128842905	128842905	4:g.128842905_128842905del	-
NM_001371596.2(MFSD8):c.1120A>G (p.Ile374Val)	256471	MFSD8	Uncertain significance	1736367637	RCV001057924;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842909	128842909	4:g.128842909T>C	-
NM_001371596.2(MFSD8):c.1120del (p.Ile374fs)	256471	MFSD8	Pathogenic	2148840396	RCV001387038;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842909	128842909	128842908	-
NM_001371596.2(MFSD8):c.1116T>A (p.Asn372Lys)	256471	MFSD8	Uncertain significance	758114648	RCV001349384\|RCV001825951;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128842913	128842913	128842913	-
NM_001371596.2(MFSD8):c.1113del (p.Asn371fs)	256471	MFSD8	Pathogenic	2148840426	RCV001386581;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842916	128842916	128842915	-
NM_001371596.2(MFSD8):c.1112A>G (p.Asn371Ser)	256471	MFSD8	Uncertain significance	-1	RCV003084135;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842917	128842917	NC_000004.11:g.128842917T>C	-
NM_001371596.2(MFSD8):c.1109A>T (p.His370Leu)	256471	MFSD8	Uncertain significance	1578794999	RCV001907201;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842920	128842920	128842920	-
NM_001371596.2(MFSD8):c.1107G>C (p.Leu369Phe)	256471	MFSD8	Uncertain significance	747197852	RCV000412876\|RCV000544218\|RCV001828342\|RCV002487529;	N	MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366; MONDO:MONDO:0014515,MedGe	4	128842922	128842922	NC_000004.11:g.128842922C>G	ClinGen:CA3077283	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1106T>C (p.Leu369Ser)	256471	MFSD8	Uncertain significance	2148840460	RCV002017358;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842923	128842923	128842923	-
NM_001371596.2(MFSD8):c.1103A>G (p.Asp368Gly)	256471	MFSD8	Uncertain significance	-1	RCV002833601;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842926	128842926	NC_000004.11:g.128842926T>C	-
NM_001371596.2(MFSD8):c.1103-2del	256471	MFSD8	Likely pathogenic	1736369601	RCV001056828;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842928	128842928	4:g.128842928_128842928del	-
NM_001371596.2(MFSD8):c.1103-2A>T	256471	MFSD8	Likely pathogenic	-1	RCV003016705;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842928	128842928	NC_000004.11:g.128842928T>A	-
NM_001371596.2(MFSD8):c.1103-4A>G	256471	MFSD8	Likely benign	-1	RCV002837762;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842930	128842930	NC_000004.11:g.128842930T>C	-
NM_001371596.2(MFSD8):c.1103-5T>C	256471	MFSD8	Likely benign	2148840518	RCV002203443;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842931	128842931	128842931	-
NM_001371596.2(MFSD8):c.1103-10_1103-6del	256471	MFSD8	Conflicting interpretations of pathogenicity	1212979817	RCV001348678\|RCV001704714;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:CN517202	4	128842932	128842936	NC_000004.11:g.128842932AAAAC[1]	ClinGen:CA555019803	CN169374 not specified;
NM_001371596.2(MFSD8):c.1103-10_1103-8del	256471	MFSD8	Likely benign	-1	RCV002928934;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842934	128842936	NC_000004.11:g.128842936_128842938del	-
NM_001371596.2(MFSD8):c.1103-16G>A	256471	MFSD8	Uncertain significance	-1	RCV002942220;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842942	128842942	NC_000004.11:g.128842942C>T	-
NM_001371596.2(MFSD8):c.1103-18A>G	256471	MFSD8	Likely benign	748197230	RCV002151239;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842944	128842944	128842944	-
NM_001371596.2(MFSD8):c.1102+18T>A	256471	MFSD8	Likely benign	-1	RCV002894527;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128842997	128842997	NC_000004.11:g.128842997A>T	-
NM_001371596.2(MFSD8):c.1102+13A>G	256471	MFSD8	Likely benign	371975482	RCV000605503\|RCV001855256;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843002	128843002	4:g.128843002T>C	ClinGen:CA3077297	CN169374 not specified;
NM_001371596.2(MFSD8):c.1102+11A>T	256471	MFSD8	Likely benign	-1	RCV002881151;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843004	128843004	NC_000004.11:g.128843004T>A	-
NM_001371596.2(MFSD8):c.1102+9A>G	256471	MFSD8	Likely benign	766114843	RCV001448373;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843006	128843006	128843006	-
NM_001371596.2(MFSD8):c.1102+6G>A	256471	MFSD8	Uncertain significance	772154101	RCV001934296;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843009	128843009	128843009	-
NM_001371596.2(MFSD8):c.1102+2T>C	256471	MFSD8	Pathogenic/Likely pathogenic	-1	RCV002954176\|RCV003313296;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:CN517202	4	128843013	128843013	NC_000004.11:g.128843013A>G	-
NM_001371596.2(MFSD8):c.1102+1G>A	256471	MFSD8	Likely pathogenic	-1	RCV002571701\|RCV003146578;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:CN517202	4	128843014	128843014	NC_000004.11:g.128843014C>T	-
NM_001371596.2(MFSD8):c.1102G>C (p.Asp368His)	256471	MFSD8	Pathogenic	727502800	RCV000149774\|RCV000149775;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0014515,MedGen:C4015371,OMIM:616170	4	128843015	128843015	NC_000004.11:g.128843015C>G	ClinGen:CA175008,OMIM:611124.0010	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1096T>C (p.Trp366Arg)	256471	MFSD8	Uncertain significance	-1	RCV002303158;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843021	128843021	128843021	-
NM_001371596.2(MFSD8):c.1095G>A (p.Gln365=)	256471	MFSD8	Likely benign	1578795529	RCV000945433;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843022	128843022		-
NM_001371596.2(MFSD8):c.1094A>G (p.Gln365Arg)	256471	MFSD8	Uncertain significance	-1	RCV003110454;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843023	128843023	NC_000004.11:g.128843023T>C	-
NM_001371596.2(MFSD8):c.1093C>T (p.Gln365Ter)	256471	MFSD8	Uncertain significance	904329013	RCV000779429;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843024	128843024	NC_000004.11:g.128843024G>A	-
NM_001371596.2(MFSD8):c.1093C>G (p.Gln365Glu)	256471	MFSD8	Uncertain significance	904329013	RCV002047418;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843024	128843024	128843024	-
NM_001371596.2(MFSD8):c.1090del (p.Ile364fs)	256471	MFSD8	Pathogenic	2148840973	RCV001946577;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843027	128843027	128843026	-
NM_001371596.2(MFSD8):c.1086del (p.Ile364fs)	256471	MFSD8	Pathogenic	1460276679	RCV000702031;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843031	128843031	4:g.128843031_128843031del	-	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1080A>G (p.Gln360=)	256471	MFSD8	Likely benign	751316775	RCV001422991;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843037	128843037		-
NM_001371596.2(MFSD8):c.1074A>G (p.Gly358=)	256471	MFSD8	Likely benign	755236045	RCV000941631\|RCV001272732;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128843043	128843043		-
NM_001371596.2(MFSD8):c.1072G>A (p.Gly358Arg)	256471	MFSD8	Uncertain significance	781391960	RCV001978939;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843045	128843045	128843045	-
NM_001371596.2(MFSD8):c.1071G>A (p.Trp357Ter)	256471	MFSD8	Pathogenic	-1	RCV002872750;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843046	128843046	NC_000004.11:g.128843046C>T	-
NM_001371596.2(MFSD8):c.1068T>C (p.Pro356=)	256471	MFSD8	Likely benign	376258320	RCV000861243\|RCV001585803\|RCV001830861;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:CN517202\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128843049	128843049		-
NM_001371596.2(MFSD8):c.1066C>A (p.Pro356Thr)	256471	MFSD8	Conflicting interpretations of pathogenicity	756204684	RCV000705218\|RCV001825394;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128843051	128843051	NC_000004.11:g.128843051G>T	-	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1064T>G (p.Leu355Ter)	256471	MFSD8	Pathogenic	2148841110	RCV001870144;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843053	128843053	128843053	-
NM_001371596.2(MFSD8):c.1060T>C (p.Leu354=)	256471	MFSD8	Likely benign	2148841165	RCV002121098;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843057	128843057		-
NM_001371596.2(MFSD8):c.1050C>T (p.Gly350=)	256471	MFSD8	Likely benign	2148841187	RCV002161757;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843067	128843067		-
NM_001371596.2(MFSD8):c.1047T>G (p.Val349=)	256471	MFSD8	Likely benign	2148841201	RCV002181309;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843070	128843070		-
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=)	256471	MFSD8	Benign/Likely benign	148291156	RCV000174178\|RCV000471037\|RCV001826792\|RCV002312906\|RCV003457643;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	4	128843076	128843076		ClinGen:CA200865
NM_001371596.2(MFSD8):c.1040dup (p.Trp348fs)	256471	MFSD8	Uncertain significance	1560718555	RCV000779430;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843076	128843077	NC_000004.11:g.128843077dup	-
NM_001371596.2(MFSD8):c.1040T>C (p.Val347Ala)	256471	MFSD8	Uncertain significance	1331862351	RCV001213504\|RCV001833870;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128843077	128843077	4:g.128843077A>G	-
NM_001371596.2(MFSD8):c.1039G>A (p.Val347Ile)	256471	MFSD8	Uncertain significance	-1	RCV002597697;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843078	128843078	NC_000004.11:g.128843078C>T	-
NM_001371596.2(MFSD8):c.1033_1038delinsCC (p.Ile345fs)	256471	MFSD8	Pathogenic	-1	RCV002900339;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843079	128843084	NC_000004.11:g.128843079_128843084delinsGG	-
NM_001371596.2(MFSD8):c.1036del (p.Val346fs)	256471	MFSD8	Pathogenic/Likely pathogenic	1439582451	RCV000531910\|RCV001009177;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:CN517202	4	128843081	128843081	NC_000004.11:g.128843081del	ClinGen:CA554736864	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1036G>A (p.Val346Ile)	256471	MFSD8	Uncertain significance	746209973	RCV000817206\|RCV001830792;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128843081	128843081	4:g.128843081C>T	-
NM_001371596.2(MFSD8):c.1035C>T (p.Ile345=)	256471	MFSD8	Likely benign	141422574	RCV001721286\|RCV002059651;	N	MedGen:C3661900\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843082	128843082		ClinGen:CA16604698	CN169374 not specified;
NM_001371596.2(MFSD8):c.1029A>G (p.Gly343=)	256471	MFSD8	Likely benign	1220404877	RCV002104867;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843088	128843088		-
NM_001371596.2(MFSD8):c.1029A>T (p.Gly343=)	256471	MFSD8	Likely benign	-1	RCV002947414;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843088	128843088		-
NM_001371596.2(MFSD8):c.1024G>C (p.Gly342Arg)	256471	MFSD8	Uncertain significance	-1	RCV002819326;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843093	128843093	NC_000004.11:g.128843093C>G	-
NM_001371596.2(MFSD8):c.1020A>C (p.Leu340=)	256471	MFSD8	Likely benign	-1	RCV003041869;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843097	128843097		-
NM_001371596.2(MFSD8):c.1016T>G (p.Ile339Ser)	256471	MFSD8	Uncertain significance	2148841393	RCV001901257;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843101	128843101	128843101	-
NM_001371596.2(MFSD8):c.1015A>G (p.Ile339Val)	256471	MFSD8	Uncertain significance	1280781007	RCV001882046;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843102	128843102	128843102	-
NM_001371596.2(MFSD8):c.1014T>A (p.Ala338=)	256471	MFSD8	Likely benign	2148841418	RCV001494664;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843103	128843103		-
NM_001371596.2(MFSD8):c.1010G>A (p.Arg337His)	256471	MFSD8	Uncertain significance	200386040	RCV001298373\|RCV001830149;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128843107	128843107	128843107	-
NM_001371596.2(MFSD8):c.1010G>C (p.Arg337Pro)	256471	MFSD8	Uncertain significance	200386040	RCV001345180;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843107	128843107	128843107	-
NM_001371596.2(MFSD8):c.1009C>T (p.Arg337Cys)	256471	MFSD8	Uncertain significance	-1	RCV002581987;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843108	128843108	NC_000004.11:g.128843108G>A	-
NM_001371596.2(MFSD8):c.1008G>A (p.Glu336=)	256471	MFSD8	Likely benign	-1	RCV002746498;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843109	128843109		-
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)	256471	MFSD8	Conflicting interpretations of pathogenicity	150418024	RCV000149771\|RCV000732335\|RCV001080724\|RCV001272733\|RCV002316957\|RCV002509247;	N	MONDO:MONDO:0014515,MedGen:C4015371,OMIM:616170\|MedGen:C3661900\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123\|MedGen:CN169374	4	128843111	128843111	NC_000004.11:g.128843111C>G	ClinGen:CA175005,UniProtKB:Q8NHS3#VAR_072673,OMIM:611124.0008	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.1006G>A (p.Glu336Lys)	256471	MFSD8	Uncertain significance	150418024	RCV000334238\|RCV001219362\|RCV001833332;	N	MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128843111	128843111	4:g.128843111C>T	ClinGen:CA10604727	CN169374 not specified;
NM_001371596.2(MFSD8):c.1005C>A (p.Gly335=)	256471	MFSD8	Likely benign	772735057	RCV000972006\|RCV001272734;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128843112	128843112		-
NM_001371596.2(MFSD8):c.1005C>T (p.Gly335=)	256471	MFSD8	Likely benign	-1	RCV003078766;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843112	128843112		-
NM_001371596.2(MFSD8):c.1001T>C (p.Ile334Thr)	256471	MFSD8	Uncertain significance	-1	RCV002600537;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843116	128843116	NC_000004.11:g.128843116A>G	-
NM_001371596.2(MFSD8):c.999G>A (p.Lys333=)	256471	MFSD8	Conflicting interpretations of pathogenicity	1057520312	RCV000418664\|RCV003223403;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843118	128843118		ClinGen:CA16605069
NM_001371596.2(MFSD8):c.999G>C (p.Lys333Asn)	256471	MFSD8	Uncertain significance	1057520312	RCV000640467\|RCV001835890;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128843118	128843118	4:g.128843118C>G	ClinGen:CA358172136	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.999-1G>A	256471	MFSD8	Likely pathogenic	2148841537	RCV001970620;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843119	128843119	128843119	-
NM_001371596.2(MFSD8):c.999-4A>T	256471	MFSD8	Likely benign	910246095	RCV001488295;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843122	128843122	128843122	-
NM_001371596.2(MFSD8):c.999-4A>G	256471	MFSD8	Uncertain significance	-1	RCV002602470;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843122	128843122	NC_000004.11:g.128843122T>C	-
NM_001371596.2(MFSD8):c.999-12G>A	256471	MFSD8	Likely benign	766315917	RCV000609815\|RCV002065438;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128843130	128843130	4:g.128843130C>T	ClinGen:CA3077314	CN169374 not specified;
NM_001371596.2(MFSD8):c.863+995_998+1480del	256471	MFSD8	Pathogenic	-1	RCV003333698;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128850358	128853145		-
NC_000004.11:g.(?_128851818)_(128886308_?)dup	256471	MFSD8	Uncertain significance	-1	RCV000816639;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851818	128886308		-
NC_000004.12:g.(?_127930663)_(127933113_?)del	256471	MFSD8	Pathogenic	-1	RCV001031558;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851818	128854268	-1	-
NC_000004.12:g.(?_127930663)_(127965153_?)del	256471	MFSD8	Pathogenic	-1	RCV001031859;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851818	128886308	-1	-
NC_000004.11:g.(?_128851818)_(128886288_?)dup	256471	MFSD8	Uncertain significance	-1	RCV003113746;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851818	128886288		-
NM_001371596.2(MFSD8):c.998+13T>C	256471	MFSD8	Uncertain significance	1737968072	RCV001147080;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851825	128851825	4:g.128851825A>G	-
NC_000004.11:g.(?_128851828)_(128851982_?)del	256471	MFSD8	Likely pathogenic	-1	RCV001376905;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851828	128851982	-1	-
NM_001371596.2(MFSD8):c.998+9A>G	256471	MFSD8	Likely benign	-1	RCV003027512;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851829	128851829	NC_000004.11:g.128851829T>C	-
NM_001371596.2(MFSD8):c.998+4A>G	256471	MFSD8	Uncertain significance	796052745	RCV000188178\|RCV000529743;	N	MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851834	128851834	4:g.128851834T>C	ClinGen:CA315981	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NC_000004.11:g.(?_128851838)_(128886363_?)dup	256471	MFSD8	Uncertain significance	-1	RCV000466481;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851838	128886363		-	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.995A>C (p.Lys332Thr)	256471	MFSD8	Uncertain significance	2148873265	RCV001964446;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851841	128851841	128851841	-
NM_001371596.2(MFSD8):c.993C>T (p.Ser331=)	256471	MFSD8	Likely benign	2148873268	RCV002141964;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851843	128851843		-
NM_001371596.2(MFSD8):c.979del (p.Val327fs)	256471	MFSD8	Pathogenic	-1	RCV003388904;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851857	128851857		-
NM_001371596.2(MFSD8):c.978A>G (p.Gly326=)	256471	MFSD8	Likely benign	138219028	RCV000866824\|RCV001571258\|RCV002317616;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	4	128851858	128851858		-
NM_001371596.2(MFSD8):c.975A>G (p.Leu325=)	256471	MFSD8	Conflicting interpretations of pathogenicity	570989221	RCV000591840\|RCV001078494\|RCV001835869;	N	MedGen:C3661900\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128851861	128851861		ClinGen:CA3077328	CN169374 not specified;
NM_001371596.2(MFSD8):c.974T>G (p.Leu325Ter)	256471	MFSD8	Pathogenic	-1	RCV002843511;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851862	128851862	NC_000004.11:g.128851862A>C	-
NM_001371596.2(MFSD8):c.964G>A (p.Val322Ile)	256471	MFSD8	Uncertain significance	1414250428	RCV001046885\|RCV001832442;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128851872	128851872	4:g.128851872C>T	-
NM_001371596.2(MFSD8):c.963T>C (p.Val321=)	256471	MFSD8	Likely benign	762491362	RCV002220993;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851873	128851873		-
NM_001371596.2(MFSD8):c.963T>A (p.Val321=)	256471	MFSD8	Likely benign	-1	RCV002659208;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851873	128851873		-
NM_001371596.2(MFSD8):c.961G>A (p.Val321Ile)	256471	MFSD8	Uncertain significance	76506918	RCV000640463\|RCV001829793;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128851875	128851875	4:g.128851875C>T	ClinGen:CA3077331	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.960C>T (p.Ala320=)	256471	MFSD8	Likely benign	376954943	RCV001419883;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851876	128851876		-
NM_001371596.2(MFSD8):c.958G>C (p.Ala320Pro)	256471	MFSD8	Uncertain significance	1737976227	RCV001067623;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851878	128851878	4:g.128851878C>G	-
NM_001371596.2(MFSD8):c.954T>C (p.Val318=)	256471	MFSD8	Likely benign	1299370477	RCV001450838;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851882	128851882		-
NM_001371596.2(MFSD8):c.945T>C (p.Ala315=)	256471	MFSD8	Likely benign	2148873447	RCV001429772;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851891	128851891		-
NM_001371596.2(MFSD8):c.944C>A (p.Ala315Asp)	256471	MFSD8	Uncertain significance	767331120	RCV001931870;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851892	128851892	128851892	-
NM_001371596.2(MFSD8):c.939T>G (p.Leu313=)	256471	MFSD8	Likely benign	-1	RCV002871598;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851897	128851897		-
NM_001371596.2(MFSD8):c.932_935dup (p.Leu313fs)	256471	MFSD8	Pathogenic	1737980148	RCV001959054;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851900	128851901	128851900	-
NM_001371596.2(MFSD8):c.935T>C (p.Ile312Thr)	256471	MFSD8	Uncertain significance	556875684	RCV000194054\|RCV000662085\|RCV002517099;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MeSH:D030342,MedGen:C0950123	4	128851901	128851901	NC_000004.11:g.128851901A>G	ClinGen:CA207954	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.934A>G (p.Ile312Val)	256471	MFSD8	Uncertain significance	77098161	RCV000188176\|RCV000821399\|RCV001828005;	N	MedGen:C3661900\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128851902	128851902	NC_000004.11:g.128851902T>C	ClinGen:CA315977	CN169374 not specified;
NM_001371596.2(MFSD8):c.933A>T (p.Ile311=)	256471	MFSD8	Likely benign	2148873518	RCV002171303;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851903	128851903		-
NM_001371596.2(MFSD8):c.931A>G (p.Ile311Val)	256471	MFSD8	Uncertain significance	753930474	RCV001049609\|RCV001832462;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128851905	128851905	4:g.128851905T>C	-
NM_001371596.2(MFSD8):c.930C>T (p.Gly310=)	256471	MFSD8	Likely benign	-1	RCV002837848;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851906	128851906		-
NM_001371596.2(MFSD8):c.929G>A (p.Gly310Asp)	256471	MFSD8	Uncertain significance	118203975	RCV000001056;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851907	128851907	4:g.128851907C>T	ClinGen:CA251659,UniProtKB:Q8NHS3#VAR_037177,OMIM:611124.0001	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.929G>C (p.Gly310Ala)	256471	MFSD8	Uncertain significance	118203975	RCV001361522;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851907	128851907	128851907	-
NM_001371596.2(MFSD8):c.927T>C (p.Asn309=)	256471	MFSD8	Likely benign	1217108120	RCV002199358;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851909	128851909		-
NM_001371596.2(MFSD8):c.926A>G (p.Asn309Ser)	256471	MFSD8	Uncertain significance	1737983004	RCV001348605\|RCV001831142;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128851910	128851910	128851910	-
NM_001371596.2(MFSD8):c.923A>G (p.Tyr308Cys)	256471	MFSD8	Likely pathogenic	757345902	RCV001197069;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851913	128851913	4:g.128851913T>C	-
NM_001371596.2(MFSD8):c.919T>C (p.Leu307=)	256471	MFSD8	Likely benign	1737983796	RCV001393763;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851917	128851917		-
NM_001371596.2(MFSD8):c.918G>A (p.Val306=)	256471	MFSD8	Likely benign	2148873600	RCV002089167;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851918	128851918		-
NM_001371596.2(MFSD8):c.918del (p.Leu307fs)	256471	MFSD8	Pathogenic	-1	RCV002894417;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851918	128851918	NC_000004.11:g.128851918del	-
NM_001371596.2(MFSD8):c.917T>C (p.Val306Ala)	256471	MFSD8	Uncertain significance	-1	RCV002470608;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851919	128851919	NC_000004.11:g.128851919A>G	-
NM_001371596.2(MFSD8):c.910C>A (p.Gln304Lys)	256471	MFSD8	Uncertain significance	1737985759	RCV001245044;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851926	128851926	4:g.128851926G>T	-
NM_001371596.2(MFSD8):c.902C>A (p.Thr301Asn)	256471	MFSD8	Uncertain significance	-1	RCV002815119;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851934	128851934	NC_000004.11:g.128851934G>T	-
NM_001371596.2(MFSD8):c.901A>G (p.Thr301Ala)	256471	MFSD8	Uncertain significance	-1	RCV002663461;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851935	128851935	NC_000004.11:g.128851935T>C	-
NM_001371596.2(MFSD8):c.897C>T (p.Ala299=)	256471	MFSD8	Likely benign	747352043	RCV000866880;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851939	128851939		-
NM_001371596.2(MFSD8):c.897C>G (p.Ala299=)	256471	MFSD8	Likely benign	747352043	RCV002084938;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851939	128851939		-
NM_001371596.2(MFSD8):c.894T>G (p.Tyr298Ter)	256471	MFSD8	Pathogenic	118203977	RCV000001058\|RCV001781154;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:CN517202	4	128851942	128851942	4:g.128851942A>C	ClinGen:CA251661,OMIM:611124.0003	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.894T>C (p.Tyr298=)	256471	MFSD8	Likely benign	118203977	RCV001496938;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851942	128851942		-
NM_001371596.2(MFSD8):c.889A>C (p.Met297Leu)	256471	MFSD8	Uncertain significance	1419909769	RCV000522949\|RCV001302138;	N	MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851947	128851947	4:g.128851947T>G	ClinGen:CA358174109	CN169374 not specified;
NM_001371596.2(MFSD8):c.889A>G (p.Met297Val)	256471	MFSD8	Uncertain significance	-1	RCV002302984;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851947	128851947	128851947	-
NM_001371596.2(MFSD8):c.888T>C (p.Asp296=)	256471	MFSD8	Likely benign	-1	RCV002938497;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851948	128851948		-
NM_001371596.2(MFSD8):c.887A>T (p.Asp296Val)	256471	MFSD8	Uncertain significance	-1	RCV002820581;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851949	128851949	NC_000004.11:g.128851949T>A	-
NM_001371596.2(MFSD8):c.886G>A (p.Asp296Asn)	256471	MFSD8	Uncertain significance	147295085	RCV000461290\|RCV000724371\|RCV001272735\|RCV002316999;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:C3661900\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123	4	128851950	128851950	4:g.128851950C>T	ClinGen:CA239396	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.885G>A (p.Met295Ile)	256471	MFSD8	Uncertain significance	-1	RCV002791606;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851951	128851951	NC_000004.11:g.128851951C>T	-
NM_001371596.2(MFSD8):c.882A>G (p.Thr294=)	256471	MFSD8	Likely benign	-1	RCV002881454;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851954	128851954		-
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys)	256471	MFSD8	Pathogenic/Likely pathogenic	140948465	RCV000001061\|RCV001781155\|RCV001826401\|RCV002371752;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:CN517202\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123	4	128851955	128851955	4:g.128851955G>T	ClinGen:CA339858,UniProtKB:Q8NHS3#VAR_058431,OMIM:611124.0006	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.878del (p.Pro292_Leu293insTer)	256471	MFSD8	Pathogenic	2148873794	RCV001385940;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851958	128851958	128851957	-
NM_001371596.2(MFSD8):c.876A>G (p.Pro292=)	256471	MFSD8	Likely benign	770483205	RCV002112513;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851960	128851960		-
NM_001371596.2(MFSD8):c.873T>A (p.Thr291=)	256471	MFSD8	Likely benign	1737992977	RCV001479207;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851963	128851963		-
NM_001371596.2(MFSD8):c.864-1G>A	256471	MFSD8	Pathogenic/Likely pathogenic	571950296	RCV001379020\|RCV001831364\|RCV003128762;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MedGen:C3661900	4	128851973	128851973	128851973	-
NM_001371596.2(MFSD8):c.864-4T>C	256471	MFSD8	Likely benign	1487175945	RCV001404822;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851976	128851976	128851976	-
NM_001371596.2(MFSD8):c.864-6dup	256471	MFSD8	Benign/Likely benign	200526922	RCV000553600\|RCV001531595;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:C3661900	4	128851977	128851978	4:g.128851977_128851978insA	ClinGen:CA3077348	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.864-6del	256471	MFSD8	Benign	200526922	RCV000862778;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851978	128851978	4:g.128851978_128851978del	-
NM_001371596.2(MFSD8):c.864-8_864-6del	256471	MFSD8	Benign	200526922	RCV001521900;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851978	128851980	128851977	-
NM_001371596.2(MFSD8):c.864-16A>T	256471	MFSD8	Benign/Likely benign	202196597	RCV002126449\|RCV002505791;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0014515,MedGen:C4015371,OMIM:616170; MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851988	128851988	128851988	-
NM_001371596.2(MFSD8):c.864-20A>T	256471	MFSD8	Likely benign	-1	RCV002695616;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128851992	128851992	NC_000004.11:g.128851992T>A	-
NC_000004.12:g.(?_127932965)_(127933113_?)del	256471	MFSD8	Pathogenic	-1	RCV001033260;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854120	128854268	-1	-
NM_001371596.2(MFSD8):c.863+20C>A	256471	MFSD8	Likely benign	-1	RCV002982632;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854120	128854120	NC_000004.11:g.128854120G>T	-
NM_001371596.2(MFSD8):c.863+9T>C	256471	MFSD8	Likely benign	201046915	RCV001427607;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854131	128854131	128854131	-
NM_001371596.2(MFSD8):c.863+8T>C	256471	MFSD8	Likely benign	766959611	RCV001465552;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854132	128854132	128854132	-
NM_001371596.2(MFSD8):c.863+3_863+4insT	256471	MFSD8	Pathogenic	727502801	RCV000149776;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854136	128854137	4:g.128854136_128854137insA	ClinGen:CA273060,OMIM:611124.0011	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.863+4A>G	256471	MFSD8	Uncertain significance	752035164	RCV000180705\|RCV002515300;	N	MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854136	128854136	4:g.128854136T>C	ClinGen:CA248270	CN169374 not specified;
NM_001371596.2(MFSD8):c.863+1G>A	256471	MFSD8	Pathogenic	200319160	RCV000616705\|RCV001067482\|RCV001783107\|RCV002529305;	N	MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	4	128854139	128854139	NC_000004.11:g.128854139C>T	ClinGen:CA105679760	C0022340 Late-infantile neuronal ceroid lipofuscinosis;
NM_001371596.2(MFSD8):c.863+1G>T	256471	MFSD8	Pathogenic	200319160	RCV001062378;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854139	128854139	4:g.128854139C>A	-
NM_001371596.2(MFSD8):c.863C>T (p.Thr288Ile)	256471	MFSD8	Uncertain significance	755384900	RCV000188175\|RCV000764533\|RCV001828004\|RCV002517001\|RCV002517000;	N	MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366; MONDO:MONDO:0014515,MedGen:C4015371,OMIM:616170\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012588,MedGen:C	4	128854140	128854140	4:g.128854140G>A	ClinGen:CA315975	CN169374 not specified;
NM_001371596.2(MFSD8):c.852C>T (p.Ala284=)	256471	MFSD8	Likely benign	1405791431	RCV001400249;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854151	128854151		-
NM_001371596.2(MFSD8):c.850G>T (p.Ala284Ser)	256471	MFSD8	Uncertain significance	-1	RCV002593702;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854153	128854153	NC_000004.11:g.128854153C>A	-
NM_001371596.2(MFSD8):c.846C>A (p.Ile282=)	256471	MFSD8	Likely benign	776272077	RCV000899464;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854157	128854157		-
NM_001371596.2(MFSD8):c.842_845del (p.Phe281fs)	256471	MFSD8	Pathogenic	-1	RCV003074220;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854158	128854161	NC_000004.11:g.128854161_128854164del	-
NM_001371596.2(MFSD8):c.840A>G (p.Leu280=)	256471	MFSD8	Likely benign	199982542	RCV001426888;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854163	128854163		ClinGen:CA16611419
NM_001371596.2(MFSD8):c.838C>G (p.Leu280Val)	256471	MFSD8	Uncertain significance	749001842	RCV001824545\|RCV002542764;	N	MedGen:C3661900\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854165	128854165	128854165	-
NM_001371596.2(MFSD8):c.832G>A (p.Val278Met)	256471	MFSD8	Uncertain significance	796052743	RCV000188174\|RCV000695060\|RCV001272736\|RCV002433848;	N	MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123	4	128854171	128854171	4:g.128854171C>T	ClinGen:CA315973	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.823_824del (p.Leu275fs)	256471	MFSD8	Pathogenic	-1	RCV002726557;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854179	128854180	NC_000004.11:g.128854180_128854181del	-
NM_001371596.2(MFSD8):c.821T>C (p.Val274Ala)	256471	MFSD8	Uncertain significance	-1	RCV002830050;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854182	128854182	NC_000004.11:g.128854182A>G	-
NM_001371596.2(MFSD8):c.820G>A (p.Val274Ile)	256471	MFSD8	Uncertain significance	745354809	RCV001900177;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854183	128854183	128854183	-
NM_001371596.2(MFSD8):c.818A>G (p.Asn273Ser)	256471	MFSD8	Uncertain significance	-1	RCV003085572\|RCV003377862;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MeSH:D030342,MedGen:C0950123	4	128854185	128854185	NC_000004.11:g.128854185T>C	-
NM_001371596.2(MFSD8):c.813C>T (p.Ala271=)	256471	MFSD8	Likely benign	768499490	RCV000640471;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854190	128854190		ClinGen:CA3077371	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.809T>C (p.Val270Ala)	256471	MFSD8	Uncertain significance	200284184	RCV000640469;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854194	128854194	4:g.128854194A>G	ClinGen:CA105679841	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.807T>A (p.Val269=)	256471	MFSD8	Likely benign	1199001687	RCV002096605;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854196	128854196		-
NM_001371596.2(MFSD8):c.807T>C (p.Val269=)	256471	MFSD8	Likely benign	1199001687	RCV002148937;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854196	128854196		-
NM_001371596.2(MFSD8):c.798G>A (p.Gln266=)	256471	MFSD8	Likely benign	2148882297	RCV002161444;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854205	128854205		-
NM_001371596.2(MFSD8):c.792T>A (p.Ile264=)	256471	MFSD8	Likely benign	1738427095	RCV002099934;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854211	128854211		-
NM_001371596.2(MFSD8):c.787A>G (p.Asn263Asp)	256471	MFSD8	Uncertain significance	374234685	RCV001955640;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854216	128854216	128854216	-
NM_001371596.2(MFSD8):c.782A>C (p.Gln261Pro)	256471	MFSD8	Uncertain significance	-1	RCV002586131;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854221	128854221	NC_000004.11:g.128854221T>G	-
NM_001371596.2(MFSD8):c.778C>T (p.Pro260Ser)	256471	MFSD8	Uncertain significance	1174831833	RCV001044041\|RCV001836080;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128854225	128854225	4:g.128854225G>A	-
NM_001371596.2(MFSD8):c.776T>A (p.Val259Asp)	256471	MFSD8	Uncertain significance	1553947509	RCV000528672;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854227	128854227	4:g.128854227A>T	ClinGen:CA358174766	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.774G>A (p.Gln258=)	256471	MFSD8	Likely benign	773465316	RCV002203899;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854229	128854229		-
NM_001371596.2(MFSD8):c.773A>T (p.Gln258Leu)	256471	MFSD8	Uncertain significance	2148882430	RCV001986862;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854230	128854230	128854230	-
NM_001371596.2(MFSD8):c.772C>G (p.Gln258Glu)	256471	MFSD8	Uncertain significance	976533060	RCV001768409\|RCV001868747;	N	MedGen:C3661900\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854231	128854231	128854231	-
NM_001371596.2(MFSD8):c.770C>T (p.Ala257Val)	256471	MFSD8	Uncertain significance	1300137848	RCV001206817;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854233	128854233	4:g.128854233G>A	-
NM_001371596.2(MFSD8):c.769G>A (p.Ala257Thr)	256471	MFSD8	Uncertain significance	1255391064	RCV001924334;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854234	128854234	128854234	-
NM_001371596.2(MFSD8):c.767A>C (p.Glu256Ala)	256471	MFSD8	Uncertain significance	763119554	RCV001232570;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854236	128854236	4:g.128854236T>G	-
NM_001371596.2(MFSD8):c.765T>C (p.Asp255=)	256471	MFSD8	Likely benign	-1	RCV002658540;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854238	128854238		-
NM_001371596.2(MFSD8):c.759T>C (p.Ser253=)	256471	MFSD8	Likely benign	2148882499	RCV001392997;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854244	128854244		-
NM_001371596.2(MFSD8):c.755-2A>C	256471	MFSD8	Likely pathogenic	-1	RCV002996751;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854250	128854250	NC_000004.11:g.128854250T>G	-
NM_001371596.2(MFSD8):c.755-4A>G	256471	MFSD8	Likely benign	766510873	RCV000608403\|RCV001487602;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854252	128854252	4:g.128854252T>C	ClinGen:CA3077377	CN169374 not specified;
NM_001371596.2(MFSD8):c.755-6C>T	256471	MFSD8	Likely benign	752118814	RCV000932409\|RCV001565108;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:CN517202	4	128854254	128854254	4:g.128854254G>A	-
NM_001371596.2(MFSD8):c.755-7C>T	256471	MFSD8	Likely benign	2148882528	RCV001402529;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854255	128854255	128854255	-
NM_001371596.2(MFSD8):c.755-14C>A	256471	MFSD8	Likely benign	-1	RCV003093546;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854262	128854262	NC_000004.11:g.128854262G>T	-
NM_001371596.2(MFSD8):c.755-15C>A	256471	MFSD8	Likely benign	767947557	RCV002181564;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854263	128854263	128854263	-
NM_001371596.2(MFSD8):c.755-15C>T	256471	MFSD8	Likely benign	-1	RCV003074889;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128854263	128854263	NC_000004.11:g.128854263G>A	-
NM_001371596.2(MFSD8):c.754+16T>C	256471	MFSD8	Likely benign	-1	RCV003054870;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128859922	128859922	NC_000004.11:g.128859922A>G	-
NM_001371596.2(MFSD8):c.754+2T>A	256471	MFSD8	Pathogenic/Likely pathogenic	587778809	RCV000188171\|RCV001271142\|RCV000056142\|RCV001353040;	N	MedGen:CN517202\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0014515,MedGen:C4015371,OMIM:616170	4	128859936	128859936	4:g.128859936A>T	ClinGen:CA315968	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.754+1G>T	256471	MFSD8	Pathogenic/Likely pathogenic	868732642	RCV002318663\|RCV002534929;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128859937	128859937	NC_000004.11:g.128859937C>A	-
NM_001371596.2(MFSD8):c.754+1G>A	256471	MFSD8	Pathogenic	868732642	RCV001092642\|RCV001204062\|RCV001706719;	N	MedGen:C3661900\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0014515,MedGen:C4015371,OMIM:616170	4	128859937	128859937	4:g.128859937C>T	-
NM_001371596.2(MFSD8):c.754G>T (p.Ala252Ser)	256471	MFSD8	Uncertain significance	1739583922	RCV001052356;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128859938	128859938	4:g.128859938C>A	-
NM_001371596.2(MFSD8):c.753A>G (p.Glu251=)	256471	MFSD8	Uncertain significance	-1	RCV002284295;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128859939	128859939		-
NM_001371596.2(MFSD8):c.750A>G (p.Glu250=)	256471	MFSD8	Likely benign	2148902616	RCV002161637;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128859942	128859942		-
NM_001371596.2(MFSD8):c.748G>C (p.Glu250Gln)	256471	MFSD8	Uncertain significance	-1	RCV002691178;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128859944	128859944	NC_000004.11:g.128859944C>G	-
NM_001371596.2(MFSD8):c.742_746del (p.Ile247_Asn248insTer)	256471	MFSD8	Pathogenic	-1	RCV002465065;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128859946	128859950	NC_000004.11:g.128859948_128859952del	-
NM_001371596.2(MFSD8):c.738dup (p.Ile247fs)	256471	MFSD8	Pathogenic	-1	RCV003016911;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128859953	128859954	NC_000004.11:g.128859954dup	-
NM_001371596.2(MFSD8):c.735A>G (p.Lys245=)	256471	MFSD8	Likely benign	2148902676	RCV002162111;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128859957	128859957		-
NM_001371596.2(MFSD8):c.727C>T (p.Gln243Ter)	256471	MFSD8	Pathogenic	-1	RCV002470228;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128859965	128859965	NC_000004.11:g.128859965G>A	-
NM_001371596.2(MFSD8):c.726A>G (p.Arg242=)	256471	MFSD8	Likely benign	753174925	RCV001407515;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128859966	128859966		-
NM_001371596.2(MFSD8):c.724A>G (p.Arg242Gly)	256471	MFSD8	Uncertain significance	-1	RCV002851272;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128859968	128859968	NC_000004.11:g.128859968T>C	-
NM_001371596.2(MFSD8):c.718T>C (p.Ser240Pro)	256471	MFSD8	Uncertain significance	-1	RCV003051358;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128859974	128859974	NC_000004.11:g.128859974A>G	-
NM_001371596.2(MFSD8):c.708T>G (p.Arg236=)	256471	MFSD8	Likely benign	2148902785	RCV002086438;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128859984	128859984		-
NM_001371596.2(MFSD8):c.707G>A (p.Arg236His)	256471	MFSD8	Uncertain significance	371250204	RCV000706330\|RCV001272737;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128859985	128859985	4:g.128859985C>T	-	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.706C>T (p.Arg236Cys)	256471	MFSD8	Uncertain significance	758002981	RCV000188173\|RCV000808486\|RCV001833122;	N	MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128859986	128859986	NC_000004.11:g.128859986G>A	ClinGen:CA315971	CN169374 not specified;
NM_001371596.2(MFSD8):c.704A>T (p.His235Leu)	256471	MFSD8	Uncertain significance	886059070	RCV000327332;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128859988	128859988	NC_000004.11:g.128859988T>A	ClinGen:CA10620088	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.699-1G>C	256471	MFSD8	Likely pathogenic	1739594685	RCV001037170\|RCV001832379\|RCV002551375;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123	4	128859994	128859994	4:g.128859994C>G	-
NM_001371596.2(MFSD8):c.699-1G>A	256471	MFSD8	Pathogenic	1739594685	RCV002267578\|RCV002267579;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716, Orphanet:2512	4	128859994	128859994	128859994	-
NM_001371596.2(MFSD8):c.699-4T>C	256471	MFSD8	Likely benign	2148902864	RCV001437497;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128859997	128859997	128859997	-
NM_001371596.2(MFSD8):c.699-4del	256471	MFSD8	Benign	2148902873	RCV002115810;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128859997	128859997	128859996	-
NM_001371596.2(MFSD8):c.699-5T>G	256471	MFSD8	Uncertain significance	751010275	RCV000817422\|RCV001828006;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128859998	128859998	4:g.128859998A>C	-
NC_000004.11:g.(?_128860988)_(128863333_?)del	256471	MFSD8	Pathogenic	-1	RCV003113739;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128860988	128863333		-
NM_001371596.2(MFSD8):c.698+16T>C	256471	MFSD8	Likely benign	-1	RCV003104226;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128860992	128860992	NC_000004.11:g.128860992A>G	-
NM_001371596.2(MFSD8):c.698+15A>G	256471	MFSD8	Likely benign	-1	RCV002626220;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128860993	128860993	NC_000004.11:g.128860993T>C	-
NM_001371596.2(MFSD8):c.698+10_698+13del	256471	MFSD8	Likely benign	1739839175	RCV002214055;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128860995	128860998	128860994	-
NM_001371596.2(MFSD8):c.698+7A>G	256471	MFSD8	Likely benign	1437168458	RCV001432797;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861001	128861001	4:g.128861001T>C	-
NM_001371596.2(MFSD8):c.695T>G (p.Leu232Arg)	256471	MFSD8	Uncertain significance	-1	RCV003087228;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861011	128861011	NC_000004.11:g.128861011A>C	-
NM_001371596.2(MFSD8):c.695T>C (p.Leu232Pro)	256471	MFSD8	Uncertain significance	-1	RCV003104872;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861011	128861011	NC_000004.11:g.128861011A>G	-
NM_001371596.2(MFSD8):c.694C>T (p.Leu232=)	256471	MFSD8	Likely benign	2148907140	RCV001497328;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861012	128861012		-
NM_001371596.2(MFSD8):c.690dup (p.Ile231fs)	256471	MFSD8	Pathogenic	2148907184	RCV001901049;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861015	128861016	128861015	-
NM_001371596.2(MFSD8):c.689C>T (p.Ala230Val)	256471	MFSD8	Uncertain significance	375681665	RCV000640465\|RCV001829795;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128861017	128861017	4:g.128861017G>A	ClinGen:CA3077414	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.681G>T (p.Leu227=)	256471	MFSD8	Likely benign	754149229	RCV002541526;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861025	128861025		-
NM_001371596.2(MFSD8):c.680T>C (p.Leu227Pro)	256471	MFSD8	Uncertain significance	2148907246	RCV002011150;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861026	128861026	128861026	-
NM_001371596.2(MFSD8):c.677T>C (p.Ile226Thr)	256471	MFSD8	Conflicting interpretations of pathogenicity	200591471	RCV000188172\|RCV000765753\|RCV000823577\|RCV002311276;	N	MedGen:C3661900\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366; MONDO:MONDO:0014515,MedGen:C4015371,OMIM:616170\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MeSH:D030342,MedGen:C0950123	4	128861029	128861029	NC_000004.11:g.128861029A>G	ClinGen:CA315969	CN169374 not specified;
NM_001371596.2(MFSD8):c.675T>C (p.Ile225=)	256471	MFSD8	Uncertain significance	1739848967	RCV001148067;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861031	128861031		-
NM_001371596.2(MFSD8):c.674T>G (p.Ile225Ser)	256471	MFSD8	Uncertain significance	-1	RCV003022680;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861032	128861032	NC_000004.11:g.128861032A>C	-
NM_001371596.2(MFSD8):c.670A>C (p.Asn224His)	256471	MFSD8	Uncertain significance	-1	RCV002299155;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861036	128861036	128861036	-
NM_001371596.2(MFSD8):c.662G>A (p.Gly221Glu)	256471	MFSD8	Uncertain significance	2148907334	RCV002036048;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861044	128861044	128861044	-
NM_001371596.2(MFSD8):c.658C>T (p.Leu220=)	256471	MFSD8	Likely benign	142063476	RCV000929799;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861048	128861048		-
NM_001371596.2(MFSD8):c.658C>G (p.Leu220Val)	256471	MFSD8	Uncertain significance	142063476	RCV001337354;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861048	128861048	128861048	-
NM_001371596.2(MFSD8):c.656T>C (p.Phe219Ser)	256471	MFSD8	Uncertain significance	112734134	RCV000540171\|RCV000723990\|RCV001273682\|RCV002362925;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:C3661900\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123	4	128861050	128861050	4:g.128861050A>G	ClinGen:CA247376	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.654C>T (p.Ala218=)	256471	MFSD8	Likely benign	766992766	RCV001446190;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861052	128861052		-
NM_001371596.2(MFSD8):c.652G>A (p.Ala218Thr)	256471	MFSD8	Uncertain significance	368614789	RCV000188170\|RCV001244551\|RCV001833121\|RCV002362983\|RCV002485272;	N	MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228	4	128861054	128861054	NC_000004.11:g.128861054C>T	ClinGen:CA315966	CN169374 not specified;
NM_001371596.2(MFSD8):c.651C>T (p.Ser217=)	256471	MFSD8	Likely benign	1298333228	RCV001434689;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861055	128861055		-
NM_001371596.2(MFSD8):c.627_643del (p.Met209fs)	256471	MFSD8	Likely pathogenic	1578889355	RCV001004865;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861063	128861079	4:g.128861063_128861079del	-
NM_001371596.2(MFSD8):c.639A>G (p.Pro213=)	256471	MFSD8	Likely benign	-1	RCV003029587;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861067	128861067		-
NM_001371596.2(MFSD8):c.632C>T (p.Thr211Ile)	256471	MFSD8	Uncertain significance	925670950	RCV001369516\|RCV001831290;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128861074	128861074	128861074	-
NM_001371596.2(MFSD8):c.631A>G (p.Thr211Ala)	256471	MFSD8	Uncertain significance	-1	RCV003055379;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861075	128861075	NC_000004.11:g.128861075T>C	-
NM_001371596.2(MFSD8):c.630T>C (p.Tyr210=)	256471	MFSD8	Likely benign	2148907497	RCV002198098;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861076	128861076		-
NM_001371596.2(MFSD8):c.624C>T (p.Asn208=)	256471	MFSD8	Likely benign	2148907532	RCV002163548;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861082	128861082		-
NM_001371596.2(MFSD8):c.621A>G (p.Ile207Met)	256471	MFSD8	Uncertain significance	-1	RCV003064411;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861085	128861085	NC_000004.11:g.128861085T>C	-
NM_001371596.2(MFSD8):c.616C>T (p.Gln206Ter)	256471	MFSD8	Pathogenic	1209722075	RCV001255132;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861090	128861090	4:g.128861090G>A	-
NM_001371596.2(MFSD8):c.604G>A (p.Val202Met)	256471	MFSD8	Uncertain significance	757623473	RCV001912981;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861102	128861102	128861102	-
NM_001371596.2(MFSD8):c.600G>A (p.Trp200Ter)	256471	MFSD8	Pathogenic	-1	RCV002790903;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861106	128861106	NC_000004.11:g.128861106C>T	-
NM_001371596.2(MFSD8):c.599G>A (p.Trp200Ter)	256471	MFSD8	Pathogenic	558274487	RCV000188167\|RCV002516999;	N	MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861107	128861107	4:g.128861107C>T	ClinGen:CA315960	CN517202 not provided;
NM_001371596.2(MFSD8):c.598T>C (p.Trp200Arg)	256471	MFSD8	Uncertain significance	2148907604	RCV001992752;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861108	128861108	128861108	-
NM_001371596.2(MFSD8):c.596C>T (p.Thr199Ile)	256471	MFSD8	Uncertain significance	1175598258	RCV001988274;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861110	128861110	128861110	-
NM_001371596.2(MFSD8):c.593_594del (p.Val198fs)	256471	MFSD8	Pathogenic	1407346059	RCV001939546;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861112	128861113	128861111	-
NM_001371596.2(MFSD8):c.592G>A (p.Val198Met)	256471	MFSD8	Uncertain significance	377029630	RCV000551742\|RCV000726839\|RCV001273683\|RCV002358404;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:CN517202\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123	4	128861114	128861114	4:g.128861114C>T	ClinGen:CA3077426	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp)	256471	MFSD8	Benign/Likely benign	28544073	RCV000180004\|RCV000461551\|RCV001273684\|RCV001721127\|RCV002314668;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	4	128861116	128861116	4:g.128861116C>T	ClinGen:CA203526	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.590del (p.Gly197fs)	256471	MFSD8	Pathogenic/Likely pathogenic	776253867	RCV001009009\|RCV002549293;	N	MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861116	128861116	4:g.128861116_128861116del	-
NM_001371596.2(MFSD8):c.578T>A (p.Leu193His)	256471	MFSD8	Uncertain significance	914063167	RCV001068221\|RCV002554538;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MeSH:D030342,MedGen:C0950123	4	128861128	128861128	4:g.128861128A>T	-
NM_001371596.2(MFSD8):c.576C>G (p.Phe192Leu)	256471	MFSD8	Uncertain significance	777020801	RCV000803180\|RCV001585682\|RCV001825441\|RCV002317574;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:C3661900\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123	4	128861130	128861130	NC_000004.11:g.128861130G>C	-
NM_001371596.2(MFSD8):c.573A>G (p.Thr191=)	256471	MFSD8	Benign	115275192	RCV000117618\|RCV000675988\|RCV001083945\|RCV001271143\|RCV002313907;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123	4	128861133	128861133		ClinGen:CA288962	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.572C>T (p.Thr191Ile)	256471	MFSD8	Uncertain significance	-1	RCV002909568;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861134	128861134	NC_000004.11:g.128861134G>A	-
NM_001371596.2(MFSD8):c.566G>A (p.Cys189Tyr)	256471	MFSD8	Uncertain significance	1355954321	RCV001041717\|RCV001271144;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128861140	128861140	4:g.128861140C>T	-
NM_001371596.2(MFSD8):c.563C>T (p.Thr188Ile)	256471	MFSD8	Uncertain significance	-1	RCV003002619;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861143	128861143	NC_000004.11:g.128861143G>A	-
NM_001371596.2(MFSD8):c.562A>G (p.Thr188Ala)	256471	MFSD8	Uncertain significance	1739868697	RCV001324684;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861144	128861144	128861144	-
NM_001371596.2(MFSD8):c.562A>T (p.Thr188Ser)	256471	MFSD8	Uncertain significance	1739868697	RCV001347863;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861144	128861144	128861144	-
NM_001371596.2(MFSD8):c.554-1G>C	256471	MFSD8	Likely pathogenic	773886985	RCV002038325;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861153	128861153	128861153	-
NM_001371596.2(MFSD8):c.554-6A>G	256471	MFSD8	Likely benign	759190605	RCV002139934;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861158	128861158	128861158	-
NM_001371596.2(MFSD8):c.554-10T>C	256471	MFSD8	Likely benign	-1	RCV002834008;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861162	128861162	NC_000004.11:g.128861162A>G	-
NM_001371596.2(MFSD8):c.554-17A>G	256471	MFSD8	Uncertain significance	-1	RCV002908602;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128861169	128861169	NC_000004.11:g.128861169T>C	-
NM_001371596.2(MFSD8):c.553+20C>T	256471	MFSD8	Benign/Likely benign	542955531	RCV000126759\|RCV002055676\|RCV002483252;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0014515,MedGen:C4015371,OMIM:616170; MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863180	128863180	4:g.128863180G>A	ClinGen:CA292089	CN169374 not specified;
NM_001371596.2(MFSD8):c.553+3A>G	256471	MFSD8	Uncertain significance	-1	RCV002706713;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863197	128863197	NC_000004.11:g.128863197T>C	-
NM_001371596.2(MFSD8):c.553G>C (p.Val185Leu)	256471	MFSD8	Uncertain significance	1740277571	RCV001242649;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863200	128863200	4:g.128863200C>G	-
NM_001371596.2(MFSD8):c.544C>T (p.Leu182=)	256471	MFSD8	Likely benign	929058333	RCV000419691\|RCV001447990;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863209	128863209		ClinGen:CA16604699	CN169374 not specified;
NM_001371596.2(MFSD8):c.541A>G (p.Ile181Val)	256471	MFSD8	Uncertain significance	770057458	RCV001040139\|RCV001827240\|RCV003243414;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123	4	128863212	128863212	4:g.128863212T>C	-
NM_001371596.2(MFSD8):c.541A>C (p.Ile181Leu)	256471	MFSD8	Uncertain significance	770057458	RCV001313513;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863212	128863212	128863212	-
NM_001371596.2(MFSD8):c.531_537del (p.Gly179fs)	256471	MFSD8	Pathogenic	1271198944	RCV001942019;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863216	128863222	128863215	-
NM_001371596.2(MFSD8):c.534A>G (p.Leu178=)	256471	MFSD8	Likely benign	1740280377	RCV001461470;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863219	128863219		-
NM_001371596.2(MFSD8):c.531A>G (p.Ala177=)	256471	MFSD8	Likely benign	376733427	RCV002219163;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863222	128863222		-
NM_001371596.2(MFSD8):c.529G>A (p.Ala177Thr)	256471	MFSD8	Uncertain significance	1560751131	RCV000697944\|RCV003222106;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:CN517202	4	128863224	128863224	4:g.128863224C>T	-	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.525T>A (p.Cys175Ter)	256471	MFSD8	Likely pathogenic	556661896	RCV000715016;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863228	128863228	NC_000004.11:g.128863228A>T	-
NM_001371596.2(MFSD8):c.525T>C (p.Cys175=)	256471	MFSD8	Likely benign	556661896	RCV001434183;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863228	128863228		-
NM_001371596.2(MFSD8):c.519C>T (p.Ser173=)	256471	MFSD8	Uncertain significance	-1	RCV002858132;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863234	128863234		-
NM_001371596.2(MFSD8):c.514A>G (p.Ile172Val)	256471	MFSD8	Uncertain significance	540305093	RCV001938698;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863239	128863239	128863239	-
NM_001371596.2(MFSD8):c.513C>A (p.Asn171Lys)	256471	MFSD8	Uncertain significance	-1	RCV003085627;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863240	128863240	NC_000004.11:g.128863240G>T	-
NM_001371596.2(MFSD8):c.511A>G (p.Asn171Asp)	256471	MFSD8	Uncertain significance	-1	RCV002647330;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863242	128863242	NC_000004.11:g.128863242T>C	-
NM_001371596.2(MFSD8):c.503C>T (p.Ser168Phe)	256471	MFSD8	Uncertain significance	-1	RCV002301211;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863250	128863250	128863250	-
NM_001371596.2(MFSD8):c.496A>G (p.Thr166Ala)	256471	MFSD8	Uncertain significance	-1	RCV003089596;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863257	128863257	NC_000004.11:g.128863257T>C	-
NM_001371596.2(MFSD8):c.493A>C (p.Arg165=)	256471	MFSD8	Likely benign	761767969	RCV000874080;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863260	128863260		-
NM_001371596.2(MFSD8):c.483C>T (p.Ser161=)	256471	MFSD8	Likely benign	2148915652	RCV002186555;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863270	128863270		-
NM_001371596.2(MFSD8):c.479C>T (p.Thr160Ile)	256471	MFSD8	Uncertain significance	1162750836	RCV001196673;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863274	128863274	4:g.128863274G>A	-
NM_001371596.2(MFSD8):c.475G>T (p.Ala159Ser)	256471	MFSD8	Uncertain significance	1740290508	RCV001237366;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863278	128863278	4:g.128863278C>A	-
NM_001371596.2(MFSD8):c.468_469delinsCC (p.Ala157Pro)	256471	MFSD8	Pathogenic	1740291234	RCV000001062;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863284	128863285	NC_000004.11:g.128863284_128863285delinsGG	OMIM:611124.0007	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.467C>T (p.Thr156Ile)	256471	MFSD8	Uncertain significance	1740291651	RCV001309130;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863286	128863286	128863286	-
NM_001371596.2(MFSD8):c.465T>C (p.Tyr155=)	256471	MFSD8	Likely benign	753346740	RCV001472050;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863288	128863288		-
NM_001371596.2(MFSD8):c.462A>G (p.Ser154=)	256471	MFSD8	Likely benign	2148915757	RCV001396924;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863291	128863291		-
NM_001371596.2(MFSD8):c.459A>G (p.Arg153=)	256471	MFSD8	Likely benign	2148915775	RCV002203752;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863294	128863294		-
NM_001371596.2(MFSD8):c.459A>T (p.Arg153Ser)	256471	MFSD8	Uncertain significance	-1	RCV003013595;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863294	128863294	NC_000004.11:g.128863294T>A	-
NM_001371596.2(MFSD8):c.454G>T (p.Val152Phe)	256471	MFSD8	Uncertain significance	2148915793	RCV002040615;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863299	128863299	128863299	-
NM_001371596.2(MFSD8):c.453T>C (p.Val151=)	256471	MFSD8	Likely benign	750205976	RCV002089267;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863300	128863300		-
NM_001371596.2(MFSD8):c.440-2A>T	256471	MFSD8	Likely pathogenic	751696703	RCV000533734;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863315	128863315	4:g.128863315T>A	ClinGen:CA3077461	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.440-7T>A	256471	MFSD8	Likely benign	2148915878	RCV001495039;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863320	128863320	128863320	-
NM_001371596.2(MFSD8):c.440-9G>A	256471	MFSD8	Likely benign	-1	RCV002714859;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863322	128863322	NC_000004.11:g.128863322C>T	-
NM_001371596.2(MFSD8):c.440-16G>A	256471	MFSD8	Likely benign	-1	RCV002820415;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128863329	128863329	NC_000004.11:g.128863329C>T	-
NM_001371596.2(MFSD8):c.439+20_439+23del	256471	MFSD8	Likely benign	1740580816	RCV002212790;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864884	128864887	128864883	-
NM_001371596.2(MFSD8):c.439+16T>A	256471	MFSD8	Likely benign	1320386320	RCV000611800\|RCV002063325;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864891	128864891	4:g.128864891A>T	ClinGen:CA554739778	CN169374 not specified;
NC_000004.11:g.(?_128864897)_(128886298_?)del	256471	MFSD8	Pathogenic	-1	RCV001949571;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864897	128886298	-1	-
NM_001371596.2(MFSD8):c.439+9G>T	256471	MFSD8	Likely benign	1339979382	RCV000978144;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864898	128864898	4:g.128864898C>A	-
NM_001371596.2(MFSD8):c.439+6G>T	256471	MFSD8	Uncertain significance	-1	RCV002975037;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864901	128864901	NC_000004.11:g.128864901C>A	-
NM_001371596.2(MFSD8):c.439+6G>A	256471	MFSD8	Uncertain significance	-1	RCV002996683;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864901	128864901	NC_000004.11:g.128864901C>T	-
NM_001371596.2(MFSD8):c.439+5G>A	256471	MFSD8	Uncertain significance	-1	RCV002780517;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864902	128864902	NC_000004.11:g.128864902C>T	-
NM_001371596.2(MFSD8):c.439+4A>G	256471	MFSD8	Uncertain significance	751782767	RCV001299352;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864903	128864903	128864903	-
NM_001371596.2(MFSD8):c.439+2T>A	256471	MFSD8	Likely pathogenic	-1	RCV002894226;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864905	128864905	NC_000004.11:g.128864905A>T	-
NM_001371596.2(MFSD8):c.436G>A (p.Ala146Thr)	256471	MFSD8	Uncertain significance	755152088	RCV000814641;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864910	128864910	4:g.128864910C>T	-
NM_001371596.2(MFSD8):c.435A>C (p.Gly145=)	256471	MFSD8	Likely benign	781299975	RCV000423565\|RCV000549828\|RCV002328937;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MeSH:D030342,MedGen:C0950123	4	128864911	128864911		ClinGen:CA3077480	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.433G>A (p.Gly145Arg)	256471	MFSD8	Uncertain significance	-1	RCV002967311;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864913	128864913	NC_000004.11:g.128864913C>T	-
NM_001371596.2(MFSD8):c.431T>C (p.Ile144Thr)	256471	MFSD8	Uncertain significance	1227703492	RCV001043914\|RCV001827267;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128864915	128864915	4:g.128864915A>G	-
NM_001371596.2(MFSD8):c.428G>A (p.Gly143Glu)	256471	MFSD8	Uncertain significance	-1	RCV003074225;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864918	128864918	NC_000004.11:g.128864918C>T	-
NM_001371596.2(MFSD8):c.424T>C (p.Leu142=)	256471	MFSD8	Likely benign	2148921676	RCV001412952;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864922	128864922		-
NM_001371596.2(MFSD8):c.423G>T (p.Leu141Phe)	256471	MFSD8	Uncertain significance	1462440516	RCV001998106;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864923	128864923	128864923	-
NM_001371596.2(MFSD8):c.422T>C (p.Leu141Ser)	256471	MFSD8	Uncertain significance	1740590363	RCV001313646\|RCV001830273;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128864924	128864924	128864924	-
NM_001371596.2(MFSD8):c.421T>C (p.Leu141=)	256471	MFSD8	Conflicting interpretations of pathogenicity	778330834	RCV000321495;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864925	128864925		ClinGen:CA3077483	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His)	256471	MFSD8	Conflicting interpretations of pathogenicity	749704755	RCV000496155\|RCV002222533;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	4	128864930	128864930	4:g.128864930C>T	ClinGen:CA3077486	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.416G>T (p.Arg139Leu)	256471	MFSD8	Likely pathogenic	-1	RCV002471478;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864930	128864930	NC_000004.11:g.128864930C>A	-
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys)	256471	MFSD8	Conflicting interpretations of pathogenicity	993001712	RCV001297889\|RCV001310496;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:C3661900	4	128864931	128864931	128864931	-
NM_001371596.2(MFSD8):c.414T>G (p.Ala138=)	256471	MFSD8	Likely benign	-1	RCV002846510;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864932	128864932		-
NM_001371596.2(MFSD8):c.411T>C (p.Val137=)	256471	MFSD8	Likely benign	201652718	RCV001448040;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864935	128864935		-
NM_001371596.2(MFSD8):c.409G>A (p.Val137Ile)	256471	MFSD8	Uncertain significance	146479250	RCV000796464\|RCV001825556;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128864937	128864937	4:g.128864937C>T	-
NM_001371596.2(MFSD8):c.408G>T (p.Leu136=)	256471	MFSD8	Likely benign	1578911241	RCV002065742;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864938	128864938		-
NM_001371596.2(MFSD8):c.403A>G (p.Met135Val)	256471	MFSD8	Uncertain significance	768398882	RCV001060780;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864943	128864943	4:g.128864943T>C	-
NM_001371596.2(MFSD8):c.401A>G (p.Tyr134Cys)	256471	MFSD8	Uncertain significance	1242219330	RCV000640466;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864945	128864945	4:g.128864945T>C	ClinGen:CA358176723	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.400T>C (p.Tyr134His)	256471	MFSD8	Uncertain significance	776316095	RCV001870387;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864946	128864946	128864946	-
NM_001371596.2(MFSD8):c.393T>C (p.Asn131=)	256471	MFSD8	Likely benign	1553950849	RCV002213982;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864953	128864953		-
NM_001371596.2(MFSD8):c.381A>G (p.Pro127=)	256471	MFSD8	Likely benign	-1	RCV002578524;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864965	128864965		-
NM_001371596.2(MFSD8):c.380C>T (p.Pro127Leu)	256471	MFSD8	Uncertain significance	-1	RCV003071911;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864966	128864966	NC_000004.11:g.128864966G>A	-
NM_001371596.2(MFSD8):c.379C>A (p.Pro127Thr)	256471	MFSD8	Uncertain significance	-1	RCV002820014;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864967	128864967	NC_000004.11:g.128864967G>T	-
NM_001371596.2(MFSD8):c.375C>T (p.His125=)	256471	MFSD8	Likely benign	1578911454	RCV001455824;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864971	128864971		-
NM_001371596.2(MFSD8):c.373C>T (p.His125Tyr)	256471	MFSD8	Uncertain significance	1560754109	RCV000696111\|RCV001825364;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128864973	128864973	4:g.128864973G>A	-	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.366A>G (p.Ala122=)	256471	MFSD8	Likely benign	1283789637	RCV001953754;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864980	128864980		-
NM_001371596.2(MFSD8):c.362_363del (p.Tyr121fs)	256471	MFSD8	Pathogenic	2148922004	RCV002250115;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864983	128864984	128864982	-
NM_001371596.2(MFSD8):c.362A>G (p.Tyr121Cys)	256471	MFSD8	Uncertain significance	118203978	RCV000001059\|RCV000188166;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:CN517202	4	128864984	128864984	4:g.128864984T>C	ClinGen:CA251663,UniProtKB:Q8NHS3#VAR_058428,OMIM:611124.0004	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.362A>C (p.Tyr121Ser)	256471	MFSD8	Uncertain significance	118203978	RCV001202866;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864984	128864984	4:g.128864984T>G	-
NM_001371596.2(MFSD8):c.360C>T (p.Leu120=)	256471	MFSD8	Likely benign	2148922029	RCV002104287;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864986	128864986		-
NM_001371596.2(MFSD8):c.358C>G (p.Leu120Val)	256471	MFSD8	Uncertain significance	-1	RCV003115317;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864988	128864988	NC_000004.11:g.128864988G>C	-
NM_001371596.2(MFSD8):c.357C>T (p.Cys119=)	256471	MFSD8	Conflicting interpretations of pathogenicity	1553950874	RCV000596886\|RCV002062007;	N	MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864989	128864989		ClinGen:CA441215856	CN169374 not specified;
NM_001371596.2(MFSD8):c.356G>A (p.Cys119Tyr)	256471	MFSD8	Uncertain significance	-1	RCV002909082;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864990	128864990	NC_000004.11:g.128864990C>T	-
NM_001371596.2(MFSD8):c.350C>G (p.Ala117Gly)	256471	MFSD8	Uncertain significance	759795397	RCV000188165\|RCV002336498\|RCV002516998;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864996	128864996	4:g.128864996G>C	ClinGen:CA315958	CN169374 not specified;
NM_001371596.2(MFSD8):c.348A>G (p.Ala116=)	256471	MFSD8	Likely benign	2148922108	RCV001431719;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128864998	128864998		-
NM_001371596.2(MFSD8):c.343G>A (p.Val115Met)	256471	MFSD8	Uncertain significance	183450731	RCV000188164\|RCV000640468\|RCV000768269\|RCV001828003;	N	MedGen:C3661900\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366; MONDO:MONDO:0014515,MedGen:C4015371,OMIM:616170\|MONDO:MONDO:0015674,MedGen:C0	4	128865003	128865003	NC_000004.11:g.128865003C>T	ClinGen:CA315956	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.342C>T (p.Ser114=)	256471	MFSD8	Likely benign	201905099	RCV000442476\|RCV000864957;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865004	128865004		ClinGen:CA3077498	CN169374 not specified;
NM_001371596.2(MFSD8):c.319C>G (p.Leu107Val)	256471	MFSD8	Uncertain significance	-1	RCV002690704;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865027	128865027	NC_000004.11:g.128865027G>C	-
NM_001371596.2(MFSD8):c.316C>T (p.Pro106Ser)	256471	MFSD8	Uncertain significance	757793193	RCV000467129;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865030	128865030	NC_000004.11:g.128865030G>A	ClinGen:CA3077502	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.315G>A (p.Glu105=)	256471	MFSD8	Likely benign	1740610356	RCV002122287;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865031	128865031		-
NM_001371596.2(MFSD8):c.309A>T (p.Arg103Ser)	256471	MFSD8	Uncertain significance	148916499	RCV001239056\|RCV001828913;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128865037	128865037	4:g.128865037T>A	-
NM_001371596.2(MFSD8):c.306A>T (p.Pro102=)	256471	MFSD8	Likely benign	746201253	RCV001449553;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865040	128865040		-
NM_001371596.2(MFSD8):c.306A>G (p.Pro102=)	256471	MFSD8	Likely benign	746201253	RCV001446909;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865040	128865040		-
NM_001371596.2(MFSD8):c.305C>T (p.Pro102Leu)	256471	MFSD8	Uncertain significance	1458806628	RCV001241373;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865041	128865041	4:g.128865041G>A	-
NM_001371596.2(MFSD8):c.300T>C (p.Tyr100=)	256471	MFSD8	Likely benign	754739634	RCV001396522;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865046	128865046		-
NM_001371596.2(MFSD8):c.294T>A (p.Ser98=)	256471	MFSD8	Likely benign	-1	RCV002623903;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865052	128865052		-
NM_001371596.2(MFSD8):c.291G>C (p.Trp97Cys)	256471	MFSD8	Uncertain significance	796052749	RCV000188189\|RCV000234587;	N	MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865055	128865055	4:g.128865055C>G	ClinGen:CA315998	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.291G>A (p.Trp97Ter)	256471	MFSD8	Pathogenic	-1	RCV002824884;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865055	128865055	NC_000004.11:g.128865055C>T	-
NM_001371596.2(MFSD8):c.288A>G (p.Leu96=)	256471	MFSD8	Conflicting interpretations of pathogenicity	1008821019	RCV001148068\|RCV002318211;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MeSH:D030342,MedGen:C0950123	4	128865058	128865058		-
NM_001371596.2(MFSD8):c.277A>G (p.Ile93Val)	256471	MFSD8	Conflicting interpretations of pathogenicity	578102641	RCV000188156\|RCV001857624;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865069	128865069	4:g.128865069T>C	ClinGen:CA315943	CN169374 not specified;
NM_001371596.2(MFSD8):c.270T>A (p.Ala90=)	256471	MFSD8	Likely benign	754809138	RCV000640472\|RCV001619818;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:CN517202	4	128865076	128865076		ClinGen:CA3077506	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.268G>C (p.Ala90Pro)	256471	MFSD8	Uncertain significance	1553950970	RCV000677623;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865078	128865078	4:g.128865078C>G	-	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.259C>T (p.Gln87Ter)	256471	MFSD8	Pathogenic	1300341137	RCV001574809\|RCV002569076;	N	MedGen:C3661900\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865087	128865087	128865087	-
NM_001371596.2(MFSD8):c.256G>A (p.Gly86Ser)	256471	MFSD8	Uncertain significance	552923962	RCV001886208;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865090	128865090	128865090	-
NM_001371596.2(MFSD8):c.251G>A (p.Ser84Asn)	256471	MFSD8	Uncertain significance	-1	RCV002998778;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865095	128865095	NC_000004.11:g.128865095C>T	-
NM_001371596.2(MFSD8):c.249T>C (p.Tyr83=)	256471	MFSD8	Likely benign	2148922498	RCV002130014;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865097	128865097		-
NM_001371596.2(MFSD8):c.248A>G (p.Tyr83Cys)	256471	MFSD8	Uncertain significance	1740619758	RCV002051201\|RCV002545399;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MeSH:D030342,MedGen:C0950123	4	128865098	128865098	128865098	-
NM_001371596.2(MFSD8):c.246A>G (p.Ser82=)	256471	MFSD8	Likely benign	2148922522	RCV001487756;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865100	128865100		-
NM_001371596.2(MFSD8):c.245C>T (p.Ser82Leu)	256471	MFSD8	Uncertain significance	2148922530	RCV002049565;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865101	128865101	128865101	-
NM_001371596.2(MFSD8):c.240T>G (p.Ile80Met)	256471	MFSD8	Uncertain significance	1578912301	RCV001231269;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865106	128865106	4:g.128865106A>C	-
NM_001371596.2(MFSD8):c.240T>C (p.Ile80=)	256471	MFSD8	Likely benign	1578912301	RCV001465953;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865106	128865106		-
NM_001371596.2(MFSD8):c.235G>T (p.Val79Phe)	256471	MFSD8	Uncertain significance	749244700	RCV002318662\|RCV002533032;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865111	128865111	NC_000004.11:g.128865111C>A	-
NM_001371596.2(MFSD8):c.235G>C (p.Val79Leu)	256471	MFSD8	Uncertain significance	749244700	RCV002033046\|RCV002458644;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MeSH:D030342,MedGen:C0950123	4	128865111	128865111	128865111	-
NM_001371596.2(MFSD8):c.233G>A (p.Trp78Ter)	256471	MFSD8	Pathogenic	1578912362	RCV000794452\|RCV003141777;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:CN517202	4	128865113	128865113	4:g.128865113C>T	-
NM_001371596.2(MFSD8):c.225T>C (p.Phe75=)	256471	MFSD8	Likely benign	2148922604	RCV001479804;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865121	128865121		-
NM_001371596.2(MFSD8):c.221G>C (p.Ser74Thr)	256471	MFSD8	Uncertain significance	759313071	RCV001070273\|RCV001833667;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128865125	128865125	4:g.128865125C>G	-
NM_001371596.2(MFSD8):c.219A>G (p.Thr73=)	256471	MFSD8	Likely benign	143654391	RCV000869597;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865127	128865127		-
NM_001371596.2(MFSD8):c.217dup (p.Thr73fs)	256471	MFSD8	Pathogenic	796052752	RCV000188195\|RCV001390026;	N	MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865128	128865129	4:g.128865128_128865129insT	ClinGen:CA316008	CN517202 not provided;
NM_001371596.2(MFSD8):c.218C>T (p.Thr73Ile)	256471	MFSD8	Uncertain significance	377555060	RCV000812266\|RCV001825627;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128865128	128865128	4:g.128865128G>A	-
NM_001371596.2(MFSD8):c.216T>C (p.Asp72=)	256471	MFSD8	Likely benign	-1	RCV003023409;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865130	128865130		-
NM_001371596.2(MFSD8):c.207G>A (p.Pro69=)	256471	MFSD8	Likely benign	781051390	RCV001497923;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865139	128865139		-
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu)	256471	MFSD8	Conflicting interpretations of pathogenicity	147750747	RCV000725884\|RCV001086515\|RCV002317122;	N	MedGen:C3661900\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MeSH:D030342,MedGen:C0950123	4	128865140	128865140	4:g.128865140G>A	ClinGen:CA315948	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.204T>C (p.Asp68=)	256471	MFSD8	Likely benign	-1	RCV003040255;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865142	128865142		-
NM_001371596.2(MFSD8):c.199-1G>C	256471	MFSD8	Likely pathogenic	1449062348	RCV001207633;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865148	128865148	4:g.128865148C>G	-
NM_001371596.2(MFSD8):c.199-1G>A	256471	MFSD8	Likely pathogenic	-1	RCV002846590;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865148	128865148	NC_000004.11:g.128865148C>T	-
NM_001371596.2(MFSD8):c.199-2A>G	256471	MFSD8	Likely pathogenic	1578912759	RCV000987475;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865149	128865149	4:g.128865149T>C	-
NM_001371596.2(MFSD8):c.199-5T>C	256471	MFSD8	Likely benign	1578912790	RCV001472464;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865152	128865152	4:g.128865152A>G	-
NM_001371596.2(MFSD8):c.199-8_199-7insGG	256471	MFSD8	Likely benign	2148922788	RCV002081548;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865154	128865155	128865154	-
NM_001371596.2(MFSD8):c.199-8T>C	256471	MFSD8	Benign	112721309	RCV000126758\|RCV000675989\|RCV001079785\|RCV001271145;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128865155	128865155	4:g.128865155A>G	ClinGen:CA292088	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.199-8T>G	256471	MFSD8	Likely benign	112721309	RCV002192762;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865155	128865155	128865155	-
NM_001371596.2(MFSD8):c.199-11T>C	256471	MFSD8	Likely benign	750871697	RCV001719096\|RCV002064367;	N	MedGen:C3661900\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865158	128865158	4:g.128865158A>G	ClinGen:CA3077518	CN169374 not specified;
NM_001371596.2(MFSD8):c.199-13C>T	256471	MFSD8	Likely benign	1740632149	RCV002200730;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865160	128865160	128865160	-
NM_001371596.2(MFSD8):c.199-16G>A	256471	MFSD8	Likely benign	971319854	RCV002099755;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865163	128865163	128865163	-
NM_001371596.2(MFSD8):c.199-17T>C	256471	MFSD8	Likely benign	-1	RCV002638094;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128865164	128865164	NC_000004.11:g.128865164A>G	-
NC_000004.11:g.(?_128870939)_(128871022_?)del	256471	MFSD8	Pathogenic	-1	RCV003113737;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128870939	128871022		-
NC_000004.11:g.(?_128870949)_(128871012_?)dup	256471	MFSD8	Likely pathogenic	-1	RCV002041817;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128870949	128871012	-1	-
NM_001371596.2(MFSD8):c.198+7A>G	256471	MFSD8	Likely benign	776834172	RCV002077689;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128870952	128870952	128870952	-
NM_001371596.2(MFSD8):c.198+2T>C	256471	MFSD8	Likely pathogenic	2148943607	RCV001823671;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128870957	128870957	128870957	-
NM_001371596.2(MFSD8):c.198+1G>A	256471	MFSD8	Likely pathogenic	-1	RCV003045751;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128870958	128870958	NC_000004.11:g.128870958C>T	-
NM_001371596.2(MFSD8):c.195A>G (p.Gln65=)	256471	MFSD8	Uncertain significance	2148943646	RCV001365864;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128870962	128870962		-
NM_001371596.2(MFSD8):c.192C>A (p.Leu64=)	256471	MFSD8	Likely benign	1741648648	RCV001486758;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128870965	128870965		-
NM_001371596.2(MFSD8):c.187T>C (p.Tyr63His)	256471	MFSD8	Uncertain significance	1227280018	RCV001237932\|RCV001828895;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128870970	128870970	4:g.128870970A>G	-
NM_001371596.2(MFSD8):c.186A>C (p.Pro62=)	256471	MFSD8	Likely benign	750969105	RCV001414971;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128870971	128870971		-
NM_001371596.2(MFSD8):c.186A>T (p.Pro62=)	256471	MFSD8	Likely benign	750969105	RCV002218877;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128870971	128870971		-
NM_001371596.2(MFSD8):c.186A>G (p.Pro62=)	256471	MFSD8	Likely benign	750969105	RCV002153418;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128870971	128870971		-
NM_001371596.2(MFSD8):c.178A>G (p.Ile60Val)	256471	MFSD8	Uncertain significance	143902749	RCV001883580;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128870979	128870979	128870979	-
NM_001371596.2(MFSD8):c.177C>T (p.Ser59=)	256471	MFSD8	Likely benign	766788326	RCV001437599;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128870980	128870980		-
NM_001371596.2(MFSD8):c.174G>T (p.Met58Ile)	256471	MFSD8	Uncertain significance	-1	RCV002828154;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128870983	128870983	NC_000004.11:g.128870983C>A	-
NM_001371596.2(MFSD8):c.173T>C (p.Met58Thr)	256471	MFSD8	Uncertain significance	1578944380	RCV000799616;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128870984	128870984	4:g.128870984A>G	-
NM_001371596.2(MFSD8):c.170T>C (p.Met57Thr)	256471	MFSD8	Uncertain significance	895772342	RCV001052364;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128870987	128870987	4:g.128870987A>G	-
NM_001371596.2(MFSD8):c.168G>T (p.Val56=)	256471	MFSD8	Likely benign	1741654669	RCV001460234;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128870989	128870989		-
NM_001371596.2(MFSD8):c.165A>G (p.Val55=)	256471	MFSD8	Likely benign	-1	RCV002821018;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128870992	128870992		-
NM_001371596.2(MFSD8):c.163G>A (p.Val55Ile)	256471	MFSD8	Uncertain significance	-1	RCV003108469;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128870994	128870994	NC_000004.11:g.128870994C>T	-
NM_001371596.2(MFSD8):c.162T>G (p.Ser54=)	256471	MFSD8	Likely benign	777277246	RCV002132584;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128870995	128870995		-
NM_001371596.2(MFSD8):c.161del (p.Ser54fs)	256471	MFSD8	Uncertain significance	1560764227	RCV000779431;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128870996	128870996	NC_000004.11:g.128870996del	-
NM_001371596.2(MFSD8):c.156G>T (p.Gly52=)	256471	MFSD8	Likely benign	753433200	RCV001247812\|RCV001830023;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128871001	128871001		-
NM_001371596.2(MFSD8):c.155-8C>T	256471	MFSD8	Likely benign	2148943930	RCV001496492;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128871010	128871010	128871010	-
NM_001371596.2(MFSD8):c.155-9del	256471	MFSD8	Likely benign	1060504501	RCV001393505;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128871011	128871011	NC_000004.11:g.128871012del	ClinGen:CA16611533	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.155-10T>G	256471	MFSD8	Likely benign	1343380061	RCV002137391;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128871012	128871012	128871012	-
NM_001371596.2(MFSD8):c.155-10T>C	256471	MFSD8	Likely benign	-1	RCV002846203;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128871012	128871012	NC_000004.11:g.128871012A>G	-
NM_001371596.2(MFSD8):c.155-12G>A	256471	MFSD8	Likely benign	-1	RCV002756192;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128871014	128871014	NC_000004.11:g.128871014C>T	-
NM_001371596.2(MFSD8):c.155-15T>C	256471	MFSD8	Benign/Likely benign	374019724	RCV000188151\|RCV002054213;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128871017	128871017	NC_000004.11:g.128871017A>G	ClinGen:CA315934	CN169374 not specified;
NM_001371596.2(MFSD8):c.155-19del	256471	MFSD8	Likely benign	-1	RCV002634163;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128871021	128871021	NC_000004.11:g.128871022del	-
NM_001371596.2(MFSD8):c.155-20C>T	256471	MFSD8	Likely benign	2148944010	RCV002200842;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128871022	128871022	128871022	-
NC_000004.11:g.(?_128878636)_(128886288_?)del	256471	MFSD8	Pathogenic	-1	RCV003113744;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878636	128886288		-
NM_001371596.2(MFSD8):c.154+19T>C	256471	MFSD8	Likely benign	1057521818	RCV000433490\|RCV002521660;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878637	128878637	4:g.128878637A>G	ClinGen:CA16605071	CN169374 not specified;
NM_001371596.2(MFSD8):c.154+11G>T	256471	MFSD8	Likely benign	373643838	RCV002127842;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878645	128878645	128878645	-
NC_000004.12:g.(?_127957491)_(127957602_?)dup	256471	MFSD8	Likely pathogenic	-1	RCV001033705;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878646	128878757	-1	-
NC_000004.11:g.(?_128878646)_(128886298_?)del	256471	MFSD8	Pathogenic	-1	RCV001951313;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878646	128886298	-1	-
NC_000004.11:g.(?_128878646)_(128878757_?)del	256471	MFSD8	Pathogenic	-1	RCV001963125;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878646	128878757	-1	-
NM_001371596.2(MFSD8):c.154+8T>G	256471	MFSD8	Likely benign	2148972443	RCV001460782;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878648	128878648	128878648	-
NM_001371596.2(MFSD8):c.154+7A>G	256471	MFSD8	Likely benign	2148972452	RCV001411014;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878649	128878649	128878649	-
NM_001371596.2(MFSD8):c.154+4_154+7del	256471	MFSD8	Uncertain significance	-1	RCV002284148;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878649	128878652	128878648	-
NM_001371596.2(MFSD8):c.154+1G>A	256471	MFSD8	Likely pathogenic	-1	RCV003079055;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878655	128878655	NC_000004.11:g.128878655C>T	-
NM_001371596.2(MFSD8):c.154G>A (p.Gly52Arg)	256471	MFSD8	Uncertain significance	-1	RCV002308650\|RCV003099117;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878656	128878656	128878656	-
NM_001371596.2(MFSD8):c.153A>G (p.Val51=)	256471	MFSD8	Conflicting interpretations of pathogenicity	587781037	RCV000126768\|RCV002514677;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878657	128878657		ClinGen:CA292096	CN169374 not specified;
NM_001371596.2(MFSD8):c.151G>T (p.Val51Leu)	256471	MFSD8	Uncertain significance	1408300356	RCV000640464\|RCV001829794;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128878659	128878659	4:g.128878659C>A	ClinGen:CA358164957	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.150T>C (p.Ser50=)	256471	MFSD8	Likely benign	-1	RCV003034647;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878660	128878660		-
NM_001371596.2(MFSD8):c.148A>T (p.Ser50Cys)	256471	MFSD8	Uncertain significance	1355810376	RCV001343517\|RCV001831098;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128878662	128878662	128878662	-
NM_001371596.2(MFSD8):c.147C>T (p.Ser49=)	256471	MFSD8	Likely benign	-1	RCV002982192;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878663	128878663		-
NM_001371596.2(MFSD8):c.145A>G (p.Ser49Gly)	256471	MFSD8	Uncertain significance	-1	RCV003047928;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878665	128878665	NC_000004.11:g.128878665T>C	-
NM_001371596.2(MFSD8):c.144C>T (p.Leu48=)	256471	MFSD8	Likely benign	2148972539	RCV001473001;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878666	128878666		-
NM_001371596.2(MFSD8):c.136_137del (p.Met46fs)	256471	MFSD8	Pathogenic	2148972564	RCV001389084;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878673	128878674	128878672	-
NM_001371596.2(MFSD8):c.136A>G (p.Met46Val)	256471	MFSD8	Uncertain significance	1427310721	RCV001148069\|RCV002559419;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MeSH:D030342,MedGen:C0950123	4	128878674	128878674	4:g.128878674T>C	-
NM_001371596.2(MFSD8):c.133A>T (p.Thr45Ser)	256471	MFSD8	Uncertain significance	1743087138	RCV001943446;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878677	128878677	128878677	-
NM_001371596.2(MFSD8):c.128A>G (p.Tyr43Cys)	256471	MFSD8	Uncertain significance	1421635169	RCV001350893\|RCV001831164;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128878682	128878682	128878682	-
NM_001371596.2(MFSD8):c.126A>G (p.Leu42=)	256471	MFSD8	Likely benign	-1	RCV002885199;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878684	128878684		-
NM_001371596.2(MFSD8):c.119G>C (p.Arg40Thr)	256471	MFSD8	Uncertain significance	-1	RCV002937952;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878691	128878691	NC_000004.11:g.128878691C>G	-
NM_001371596.2(MFSD8):c.116T>A (p.Ile39Asn)	256471	MFSD8	Uncertain significance	140349255	RCV001278244\|RCV001880253;	N	MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878694	128878694	4:g.128878694A>T	-
NM_001371596.2(MFSD8):c.115A>T (p.Ile39Phe)	256471	MFSD8	Uncertain significance	201739608	RCV000188187\|RCV000458891\|RCV001833125\|RCV002317123\|RCV002485273;	N	MedGen:C3661900\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228	4	128878695	128878695	4:g.128878695T>A	ClinGen:CA315995	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.115A>G (p.Ile39Val)	256471	MFSD8	Uncertain significance	201739608	RCV000498574\|RCV001239875\|RCV001273685;	N	MedGen:C3661900\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128878695	128878695	4:g.128878695T>C	ClinGen:CA3077571	CN169374 not specified;
NM_001371596.2(MFSD8):c.114T>C (p.Ser38=)	256471	MFSD8	Likely benign	2148972697	RCV001396911;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878696	128878696		-
NM_001371596.2(MFSD8):c.112T>G (p.Ser38Ala)	256471	MFSD8	Uncertain significance	-1	RCV002304651;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878698	128878698	128878698	-
NM_001371596.2(MFSD8):c.110G>T (p.Arg37Ile)	256471	MFSD8	Uncertain significance	915454873	RCV001975279;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878700	128878700	128878700	-
NM_001371596.2(MFSD8):c.110G>A (p.Arg37Lys)	256471	MFSD8	Uncertain significance	-1	RCV003008198;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878700	128878700	NC_000004.11:g.128878700C>T	-
NM_001371596.2(MFSD8):c.106T>C (p.Trp36Arg)	256471	MFSD8	Uncertain significance	200001979	RCV001878538;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878704	128878704	128878704	-
NM_001371596.2(MFSD8):c.105A>T (p.Arg35=)	256471	MFSD8	Likely benign	-1	RCV002847212;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878705	128878705		-
NM_001371596.2(MFSD8):c.105A>G (p.Arg35=)	256471	MFSD8	Likely benign	-1	RCV003013257;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878705	128878705		-
NM_001371596.2(MFSD8):c.104G>A (p.Arg35Gln)	256471	MFSD8	Uncertain significance	146596875	RCV001830591\|RCV001862043\|RCV002249438\|RCV002313681;	N	MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	4	128878706	128878706	NC_000004.11:g.128878706C>T	-
NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter)	256471	MFSD8	Pathogenic	749315686	RCV001049768\|RCV001271146\|RCV002497393;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366; MONDO:MONDO:0014515,MedGen:C4015371,OMIM:	4	128878707	128878707	4:g.128878707G>A	-
NM_001371596.2(MFSD8):c.102C>T (p.Ser34=)	256471	MFSD8	Likely benign	139212190	RCV000841546\|RCV001088073;	N	MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878708	128878708		-
NM_001371596.2(MFSD8):c.96T>C (p.Tyr32=)	256471	MFSD8	Likely benign	1014332712	RCV002146232;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878714	128878714		-
NM_001371596.2(MFSD8):c.93T>C (p.His31=)	256471	MFSD8	Likely benign	-1	RCV002847660;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878717	128878717		-
NM_001371596.2(MFSD8):c.91C>G (p.His31Asp)	256471	MFSD8	Uncertain significance	1296514095	RCV001914352;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878719	128878719	128878719	-
NM_001371596.2(MFSD8):c.87A>G (p.Glu29=)	256471	MFSD8	Uncertain significance	-1	RCV002847301;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878723	128878723		-
NM_001371596.2(MFSD8):c.84T>C (p.Thr28=)	256471	MFSD8	Likely benign	-1	RCV002848195;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878726	128878726		-
NM_001371596.2(MFSD8):c.78A>G (p.Leu26=)	256471	MFSD8	Likely benign	770986122	RCV000541265;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878732	128878732		ClinGen:CA3077575	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.77T>G (p.Leu26Ter)	256471	MFSD8	Pathogenic	760049336	RCV001900279;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878733	128878733	128878733	-
NM_001371596.2(MFSD8):c.63-652_74del	256471	MFSD8	Likely pathogenic	1743097125	RCV001243818;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878736	128879399	4:g.128878736_128878834del	-
NM_001371596.2(MFSD8):c.72C>T (p.Asp24=)	256471	MFSD8	Likely benign	775812921	RCV001474282;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878738	128878738		-
NM_001371596.2(MFSD8):c.72C>A (p.Asp24Glu)	256471	MFSD8	Uncertain significance	775812921	RCV002006866;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878738	128878738	128878738	-
NM_001371596.2(MFSD8):c.68G>A (p.Trp23Ter)	256471	MFSD8	Likely pathogenic	-1	RCV003226083;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878742	128878742		-
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp)	256471	MFSD8	Benign/Likely benign	145529594	RCV000186638\|RCV000548248\|RCV001271147\|RCV001705846\|RCV002312187\|RCV002505044;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168	4	128878744	128878744	4:g.128878744T>A	ClinGen:CA231294	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.66A>G (p.Glu22=)	256471	MFSD8	Conflicting interpretations of pathogenicity	145529594	RCV000728730\|RCV001402734;	N	MedGen:C3661900\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878744	128878744		-
NM_001371596.2(MFSD8):c.65_66del (p.Glu22fs)	256471	MFSD8	Pathogenic	2148972962	RCV002002396;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878744	128878745	128878743	-
NM_001371596.2(MFSD8):c.64G>T (p.Glu22Ter)	256471	MFSD8	Pathogenic	1560776422	RCV000696434;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878746	128878746	4:g.128878746C>A	-	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.63A>C (p.Arg21Ser)	256471	MFSD8	Uncertain significance	201926015	RCV000798680\|RCV001835965\|RCV002537096;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123	4	128878747	128878747	4:g.128878747T>G	-
NM_001371596.2(MFSD8):c.63-1G>A	256471	MFSD8	Pathogenic	1314967038	RCV000987476\|RCV001593164;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:CN517202	4	128878748	128878748	4:g.128878748C>T	-
NM_001371596.2(MFSD8):c.63-4del	256471	MFSD8	Conflicting interpretations of pathogenicity	755011754	RCV000724168\|RCV001082199\|RCV001271148;	N	MedGen:C3661900\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128878751	128878751	4:g.128878751_128878751del	ClinGen:CA243591	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.63-4C>T	256471	MFSD8	Likely benign	764964269	RCV001482782;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878751	128878751	4:g.128878751G>A	ClinGen:CA3077582	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.63-8A>G	256471	MFSD8	Likely benign	751480930	RCV001501623;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878755	128878755	128878755	-
NM_001371596.2(MFSD8):c.63-9T>C	256471	MFSD8	Likely benign	754893282	RCV001499150;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878756	128878756	128878756	-
NM_001371596.2(MFSD8):c.63-12_63-10del	256471	MFSD8	Likely benign	2148973081	RCV002136570;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878757	128878759	128878756	-
NM_001371596.2(MFSD8):c.63-16del	256471	MFSD8	Benign/Likely benign	749859985	RCV000482940\|RCV002063786;	N	MedGen:CN169374\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878763	128878763	4:g.128878763_128878763del	ClinGen:CA3077586	CN169374 not specified;
NM_001371596.2(MFSD8):c.63-16T>C	256471	MFSD8	Likely benign	2148973104	RCV002096121;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128878763	128878763	128878763	-
NC_000004.12:g.(?_127965052)_(127965153_?)del	256471	MFSD8	Pathogenic	-1	RCV001032409;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886207	128886308	-1	-
NC_000004.11:g.(?_128886207)_(128886288_?)dup	256471	MFSD8	Uncertain significance	-1	RCV003113740;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886207	128886288		-
NC_000004.11:g.(?_128886207)_(128886288_?)del	256471	MFSD8	Pathogenic	-1	RCV003113743;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886207	128886288		-
NC_000004.12:g.(?_127965062)_(127965143_?)del	256471	MFSD8	Pathogenic	-1	RCV001033274;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886217	128886298	-1	-
NC_000004.11:g.(?_128886217)_(128886288_?)del	256471	MFSD8	Pathogenic	-1	RCV001381477;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886217	128886288	-1	-
NM_001371596.2(MFSD8):c.62+8G>A	256471	MFSD8	Likely benign	2149008103	RCV001456234;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886219	128886219	128886219	-
NM_001371596.2(MFSD8):c.62+4A>C	256471	MFSD8	Uncertain significance	-1	RCV002966187;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886223	128886223	NC_000004.11:g.128886223T>G	-
NM_001371596.2(MFSD8):c.54T>G (p.Pro18=)	256471	MFSD8	Likely benign	1243416801	RCV000868738\|RCV001273686\|RCV001421505\|RCV002345993;	N	MedGen:CN517202\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MeSH:D030342,MedGen:C0950123	4	128886235	128886235		-
NM_001371596.2(MFSD8):c.52C>T (p.Pro18Ser)	256471	MFSD8	Uncertain significance	2149008240	RCV001916226;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886237	128886237	128886237	-
NM_001371596.2(MFSD8):c.46G>A (p.Asp16Asn)	256471	MFSD8	Uncertain significance	752624076	RCV001893542;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886243	128886243	128886243	-
NM_001371596.2(MFSD8):c.39C>G (p.Leu13=)	256471	MFSD8	Likely benign	-1	RCV002970859;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886250	128886250		-
NM_001371596.2(MFSD8):c.37C>G (p.Leu13Val)	256471	MFSD8	Uncertain significance	150892838	RCV000372817;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886252	128886252	4:g.128886252G>C	ClinGen:CA10620097	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NM_001371596.2(MFSD8):c.37C>T (p.Leu13Phe)	256471	MFSD8	Uncertain significance	150892838	RCV000688569\|RCV001829904;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128886252	128886252	NC_000004.11:g.128886252G>A	-	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.37C>A (p.Leu13Ile)	256471	MFSD8	Uncertain significance	150892838	RCV001342553\|RCV003375237;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MeSH:D030342,MedGen:C0950123	4	128886252	128886252	128886252	-
NM_001371596.2(MFSD8):c.36G>T (p.Pro12=)	256471	MFSD8	Likely benign	1053504874	RCV001477126;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886253	128886253		-
NM_001371596.2(MFSD8):c.35C>T (p.Pro12Leu)	256471	MFSD8	Uncertain significance	749496400	RCV001278245\|RCV002537787;	N	MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886254	128886254	4:g.128886254G>A	-
NM_001371596.2(MFSD8):c.34C>T (p.Pro12Ser)	256471	MFSD8	Uncertain significance	371882083	RCV000188162\|RCV001828002\|RCV001852475;	N	MedGen:CN517202\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886255	128886255	4:g.128886255G>A	ClinGen:CA315952	CN169374 not specified;
NM_001371596.2(MFSD8):c.33G>A (p.Glu11=)	256471	MFSD8	Likely benign	1339889094	RCV001433702\|RCV002314453;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MeSH:D030342,MedGen:C0950123	4	128886256	128886256		-
NM_001371596.2(MFSD8):c.27_33delinsCC (p.Glu9fs)	256471	MFSD8	Pathogenic	1744829646	RCV001238914;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886256	128886262	4:g.128886257_128886262del	-
NM_001371596.2(MFSD8):c.32A>G (p.Glu11Gly)	256471	MFSD8	Uncertain significance	1485138561	RCV000801805;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886257	128886257	4:g.128886257T>C	-
NM_001371596.2(MFSD8):c.29A>G (p.Gln10Arg)	256471	MFSD8	Conflicting interpretations of pathogenicity	-1	RCV002435601\|RCV003102960;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886260	128886260	128886260	-
NM_001371596.2(MFSD8):c.27A>G (p.Glu9=)	256471	MFSD8	Likely benign	1216544839	RCV001492386;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886262	128886262		-
NM_001371596.2(MFSD8):c.24T>C (p.Ser8=)	256471	MFSD8	Likely benign	2149008674	RCV002134797;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886265	128886265		-
NM_001371596.2(MFSD8):c.23G>C (p.Ser8Thr)	256471	MFSD8	Uncertain significance	780548594	RCV001225111;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886266	128886266	4:g.128886266C>G	-
NM_001371596.2(MFSD8):c.22A>G (p.Ser8Gly)	256471	MFSD8	Uncertain significance	747446547	RCV001314799;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886267	128886267	128886267	-
NM_001371596.2(MFSD8):c.18C>G (p.Asn6Lys)	256471	MFSD8	Uncertain significance	771879274	RCV000684990\|RCV001830479\|RCV002544709;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MeSH:D030342,MedGen:C0950123	4	128886271	128886271	4:g.128886271G>C	-	C1838571 610951 Ceroid lipofuscinosis neuronal 7;
NM_001371596.2(MFSD8):c.17A>C (p.Asn6Thr)	256471	MFSD8	Uncertain significance	2149008801	RCV001965502;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886272	128886272	128886272	-
NM_001371596.2(MFSD8):c.16A>C (p.Asn6His)	256471	MFSD8	Uncertain significance	-1	RCV003070172;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886273	128886273	NC_000004.11:g.128886273T>G	-
NM_001371596.2(MFSD8):c.15G>A (p.Arg5=)	256471	MFSD8	Conflicting interpretations of pathogenicity	762559863	RCV000732646\|RCV001472943;	N	MedGen:CN517202\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886274	128886274		-
NM_001371596.2(MFSD8):c.14G>A (p.Arg5Gln)	256471	MFSD8	Uncertain significance	139409959	RCV001246483\|RCV001835268;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128886275	128886275	4:g.128886275C>T	-
NM_001371596.2(MFSD8):c.14G>C (p.Arg5Pro)	256471	MFSD8	Uncertain significance	139409959	RCV001554949\|RCV001827463\|RCV002568351;	N	MedGen:C3661900\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886275	128886275	128886275	-
NM_001371596.2(MFSD8):c.12G>A (p.Leu4=)	256471	MFSD8	Likely benign	-1	RCV003080260;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886277	128886277		-
NM_001371596.2(MFSD8):c.10C>T (p.Leu4=)	256471	MFSD8	Likely benign	-1	RCV003038223;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886279	128886279		-
NM_001371596.2(MFSD8):c.7G>A (p.Gly3Ser)	256471	MFSD8	Uncertain significance	773799172	RCV001149613\|RCV001828569;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MONDO:MONDO:0015674,MedGen:C0022340, Orphanet:168491	4	128886282	128886282	4:g.128886282C>T	-
NM_001371596.2(MFSD8):c.6C>T (p.Ala2=)	256471	MFSD8	Likely benign	1261295844	RCV001421870;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886283	128886283		-
NM_001371596.2(MFSD8):c.6C>G (p.Ala2=)	256471	MFSD8	Likely benign	1261295844	RCV001504796;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886283	128886283		-
NM_001371596.2(MFSD8):c.5C>T (p.Ala2Val)	256471	MFSD8	Uncertain significance	867524398	RCV000768266\|RCV002536600;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366; MONDO:MONDO:0014515,MedGen:C4015371,OMIM:616170\|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886284	128886284	NC_000004.11:g.128886284G>A	-
NM_001371596.2(MFSD8):c.4G>A (p.Ala2Thr)	256471	MFSD8	Uncertain significance	-1	RCV002640257;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886285	128886285	NC_000004.11:g.128886285C>T	-
NM_001371596.2(MFSD8):c.1A>G (p.Met1Val)	256471	MFSD8	Likely pathogenic	-1	RCV003029418;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366	4	128886288	128886288	NC_000004.11:g.128886288T>C	-
NM_001358451.3(ABHD18):c.-18+315C>G	256471	MFSD8	Benign	74561222	RCV000284780\|RCV001707671;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:C3661900	4	128887076	128887076	NC_000004.11:g.128887076C>G	ClinGen:CA10617062	CN239323 Neuronal Ceroid-Lipofuscinosis, Recessive;
NC_000004.11:g.(?_128554190)_(128886288_?)dup	-1	MFSD8;PLK4;SLC25A31;INTU;HSPA4L	Uncertain significance	-1	RCV001346938\|RCV003120576;	N	MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951, Orphanet:168491, Orphanet:228366\|MedGen:C3661900	4	128554190	128886288	-1	-

MSeqDR Portal

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen