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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: Hair Diseases (D006201)
Parent Node: Hearing Loss, Sensorineural (D006319)
Parent Node: Mitochondrial Diseases (D028361)
..Starting node ..Bjornstad syndrome (C537633)
Child Nodes:
Sister Nodes:
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784) L: 00105;
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006) L: 00419;
..Ataxia and Polyneuropathy, Adult-Onset (C564020)
..Ataxia Neuropathy Spectrum (C579922)
..Bjornstad syndrome (C537633) L: 00084;
..Carbamoyl-Phosphate Synthase I Deficiency Disease (D020165) L: 00085;
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461) L: 00486;
..Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463) L: 00487;
..Childhood Myocerebrohepatopathy Spectrum (C579990)
..Coenzyme Q10 Deficiency (C564403)
..Combined Oxidative Phosphorylation Deficiency 4 (C565690) L: 00098;
..Combined Oxidative Phosphorylation Deficiency 5 (C567126) L: 00099;
..Cowden-Like Syndrome (C567337)
..Cytochrome-c Oxidase Deficiency (D030401) 2 C:2 L: 00012;
..Deoxyguanosine Kinase Deficiency (C580039)
..ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388) L: 00014;
..ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086) L: 00525;
..Finnish lethal neonatal metabolic syndrome (C537934) L: 00104;
..Friedreich Ataxia (D005621) 6 C:1
..Hypermetabolism due to Defect in Mitochondria (C565498)
..Hypomyelination, Global Cerebral (C567847) L: 00107;
..Hypotonia-Cystinuria Syndrome (C564710) L: 00416;
..Kearns-Sayre Syndrome (D007625) 1 L: 00143;
..Leigh Disease (D007888) 12 C:3 L: 00015;
..Leukodystrophy, Hypomyelinating, 4 (C567390) L: 00421;
..Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009) L: 00418;
..LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..Mitochondrial complex I deficiency (C537475) L: 00011;
..Mitochondrial Complex II Deficiency (C565375) L: 00016;
..Mitochondrial Complex III Deficiency (C565128) L: 00018; 00019; 00020; 00021; 00022; 00507; 00508; 00528;
..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273) L: 00023;
..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052) L: 00024;
..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (OMIM:614053) L: 00025;
..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228) L: 00010;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880) L: 00031;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700) L: 00032;
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33 C:22 L: 00400;
..Mitochondrial Phosphate Carrier Deficiency (C563665) L: 00040;
..MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741) L: 00041;
..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1 L: 00439;
..Multiple Mitochondrial Dysfunctions Syndrome (C565304) L: 00013; 00043; 00530;
..Myopathy with Giant Abnormal Mitochondria (C564971)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Navajo neurohepatopathy (C538344) 1 C:1 L: 00035;
..Noninsulin-dependent diabetes mellitus with deafness (C536246)
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Autosomal Dominant (D029241) L: 00073;
..Optic Atrophy, Hereditary, Leber (D029242) 1 L: 00072; 00492;
..Parkinson Disease, Mitochondrial (C564015) L: 00170;
..Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575) L: 00117;
..Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768) L: 00049;
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
..Pyruvate Carboxylase Deficiency Disease (D015324) 1 L: 00398;
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4 C:3 L: 00442;
..Sarcosinemia (C537236)
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Succinate-Coa Ligase Deficiency (C580473)
..VDAC Deficiency (C565767)
..VLCAD deficiency (C536353) L: 00436;
..Wolfram Syndrome 2 (C565733) L: 00490;
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

1383

Name:

Bjornstad syndrome

Definition:

Alternative IDs:

OMIM:262000

ParentIDs:

MESH:D006201|MESH:D006319|MESH:D028361

TreeNumbers:

C09.218.458.341.887/C537633 |C10.597.751.418.341.887/C537633 |C17.800.329/C537633 |C18.452.660/C537633 |C23.888.592.763.393.341.887/C537633

Synonyms:

BJS |Deafness and pili torti, Bjornstad type |Pili torti and nerve deafness |Pili torti-sensorineural hearing loss |PTD

Slim Mappings:

Ear-nose-throat disease|Metabolic disease|Nervous system disease|Signs and symptoms|Skin disease

Reference:

MedGen: C537633
MeSH: C537633
OMIM: 262000;
MSeqDR : 00084;
Genes: BCS1L;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001596	Alopecia
3	HP:0000970	Anhidrosis
4	HP:0002299	Brittle hair
5	HP:0002208	Coarse hair
6	HP:0011359	Dry hair
7	HP:0003329	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
8	HP:0000135	Hypogonadism NAMDC: Hypoparathyroidism
9	HP:0001249	Intellectual disability	HP:0040283
10	HP:0003777	Pili torti
11	HP:0000407	Sensorineural hearing impairment NAMDC: Sensorineural hearing loss
12	HP:0003828	Variable expressivity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001079866.2(BCS1L):c.-50+326A>G	617	BCS1L	Likely pathogenic	-1	RCV003474339;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219524792	219524792		-
NM_001079866.2(BCS1L):c.133C>T (p.Arg45Cys)	617	BCS1L	Pathogenic/Likely pathogenic	121908575	RCV000006543\|RCV001851700\|RCV003472988;	N	MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MedGen:C3661900\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219525843	219525843	2:g.219525843C>T	ClinGen:CA118010,UniProtKB:Q9Y276#VAR_032087,OMIM:603647.0006	C1852372 124000 Mitochondrial complex III deficiency;
NM_001079866.2(BCS1L):c.134G>A (p.Arg45His)	617	BCS1L	Conflicting interpretations of pathogenicity	754414354	RCV001243753\|RCV001810474;	N	MedGen:C3661900\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693; MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219525844	219525844	2:g.219525844G>A	-	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.193A>C (p.Ser65Arg)	617	BCS1L	Uncertain significance	749184815	RCV001449705\|RCV001832578\|RCV002476767;	N	MedGen:CN169374\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123; MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358,O	2	219525903	219525903	219525903	-
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)	617	BCS1L	Conflicting interpretations of pathogenicity	377025174	RCV000197059\|RCV000415034\|RCV000623904\|RCV000675122\|RCV001810436\|RCV003474948;	N	MedGen:C3661900\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123; MONDO:MONDO:0011308,	2	219525915	219525915	2:g.219525915C>T	ClinGen:CA321501	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.206G>A (p.Arg69His)	617	BCS1L	Uncertain significance	538427220	RCV001756435\|RCV002496067;	N	MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693; MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902	2	219525916	219525916	219525916	-
NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter)	617	BCS1L	Pathogenic/Likely pathogenic	749196764	RCV000410534\|RCV001218287\|RCV001334242\|RCV003475959;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MedGen:C3661900\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219525955	219525955	2:g.219525955C>A	ClinGen:CA16040859	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.268dup (p.Arg90fs)	617	BCS1L	Likely pathogenic	-1	RCV003474349;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219525976	219525977		-
NM_001079866.2(BCS1L):c.280_281del (p.Lys94fs)	617	BCS1L	Pathogenic/Likely pathogenic	1939382793	RCV001244656\|RCV003473826;	N	MedGen:C3661900\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219525990	219525991	2:g.219525990_219525991del	-
NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu)	617	BCS1L	Pathogenic/Likely pathogenic	121908572	RCV000006539\|RCV000665386\|RCV001062637\|RCV003472985;	N	MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MedGen:C3661900\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219526006	219526006	2:g.219526006C>T	ClinGen:CA117989,UniProtKB:Q9Y276#VAR_018159,OMIM:603647.0002	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.308_309insTGCGG (p.His104fs)	617	BCS1L	Likely pathogenic	-1	RCV002310025;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219526018	219526019	219526018	-
NM_001079866.2(BCS1L):c.320+1G>T	617	BCS1L	Conflicting interpretations of pathogenicity	386833856	RCV000049825\|RCV000489556\|RCV000778593\|RCV002513688\|RCV003474632;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MedGen:C3661900\|MedGen:CN239240\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219526031	219526031	2:g.219526031G>T	ClinGen:CA144344	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.321-2A>G	617	BCS1L	Likely pathogenic	-1	RCV003154308\|RCV003475536;	N	MedGen:C0235820\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219526127	219526127		-
NM_001079866.2(BCS1L):c.325C>T (p.Arg109Trp)	617	BCS1L	Pathogenic/Likely pathogenic	141257714	RCV000199842\|RCV003226245\|RCV003474949;	N	MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219526133	219526133	2:g.219526133C>T	ClinGen:CA324385	CN169374 not specified;
NM_001079866.2(BCS1L):c.340C>T (p.Arg114Trp)	617	BCS1L	Pathogenic/Likely pathogenic	778769841	RCV001950896\|RCV002300634;	N	MedGen:C3661900\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219526148	219526148	219526148	-
NM_001079866.2(BCS1L):c.348A>G (p.Glu116=)	617	BCS1L	Likely benign	1285254792	RCV000977621\|RCV001274429\|RCV002503119;	N	MedGen:CN517202\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693; MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000	2	219526156	219526156	2:g.219526156A>G	-
NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter)	617	BCS1L	Pathogenic/Likely pathogenic	777735526	RCV000409388\|RCV001357982\|RCV003475945;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MedGen:C3661900\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219526157	219526157	2:g.219526157C>T	ClinGen:CA2109652	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter)	617	BCS1L	Pathogenic/Likely pathogenic	770749420	RCV001070513\|RCV002482133\|RCV003473699;	N	MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693; MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000,O	2	219526163	219526163	2:g.219526163C>T	-
NM_001079866.2(BCS1L):c.397G>T (p.Glu133Ter)	617	BCS1L	Likely pathogenic	-1	RCV003474343;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219526205	219526205		-
NM_001079866.2(BCS1L):c.399del (p.Glu133fs)	617	BCS1L	Conflicting interpretations of pathogenicity	751484879	RCV000778594\|RCV000801063\|RCV001825516\|RCV003472307;	N	MedGen:CN239240\|MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219526206	219526206	NC_000002.11:g.219526207del	-
NM_001079866.2(BCS1L):c.402_403insTT (p.Val135fs)	617	BCS1L	Likely pathogenic	-1	RCV002307197;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219526209	219526210	219526209	-
NM_001079866.2(BCS1L):c.430C>T (p.Arg144Ter)	617	BCS1L	Pathogenic/Likely pathogenic	1443643776	RCV000801104\|RCV002501070;	N	MedGen:CN517202\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693; MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902	2	219526238	219526238	2:g.219526238C>T	-
NM_001079866.2(BCS1L):c.460+11del	617	BCS1L	Likely benign	756708393	RCV000479414\|RCV001403748\|RCV002496864;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123; MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902	2	219526278	219526278	2:g.219526278_219526278del	ClinGen:CA2109667	CN169374 not specified;
NM_001079866.2(BCS1L):c.463C>T (p.Arg155Ter)	617	BCS1L	Pathogenic/Likely pathogenic	774688562	RCV001386890\|RCV003473973;	N	MedGen:C3661900\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219526484	219526484	219526484	-
NM_001079866.2(BCS1L):c.476T>A (p.Leu159Ter)	617	BCS1L	Likely pathogenic	-1	RCV002308208;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219526497	219526497	219526497	-
NM_001079866.2(BCS1L):c.478C>T (p.Gln160Ter)	617	BCS1L	Pathogenic/Likely pathogenic	373105002	RCV002007515\|RCV003155444\|RCV003475210;	N	MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219526499	219526499	219526499	-
NM_001079866.2(BCS1L):c.492del (p.Lys165fs)	617	BCS1L	Likely pathogenic	-1	RCV003474348;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219526511	219526511		-
NM_001079866.2(BCS1L):c.493A>T (p.Lys165Ter)	617	BCS1L	Pathogenic/Likely pathogenic	1559317208	RCV001930487\|RCV003475165;	N	MedGen:C3661900\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219526514	219526514	219526514	-
NM_001079866.2(BCS1L):c.499G>A (p.Val167Met)	617	BCS1L	Uncertain significance	200882008	RCV000198924\|RCV001833143\|RCV002492899;	N	MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000	2	219526520	219526520	2:g.219526520G>A	ClinGen:CA323457	CN169374 not specified;
NM_001079866.2(BCS1L):c.522_523del (p.Glu175fs)	617	BCS1L	Likely pathogenic	-1	RCV002309799;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123; MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902	2	219526543	219526544	219526542	-
NM_001079866.2(BCS1L):c.528G>A (p.Trp176Ter)	617	BCS1L	Pathogenic/Likely pathogenic	762980642	RCV001241843\|RCV003473822;	N	MedGen:C3661900\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219526549	219526549	2:g.219526549G>A	-
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys)	617	BCS1L	Conflicting interpretations of pathogenicity	144885874	RCV000006550\|RCV000521027\|RCV000674245\|RCV003472991;	N	MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219526568	219526568	2:g.219526568C>T	ClinGen:CA118041,UniProtKB:Q9Y276#VAR_064617,OMIM:603647.0012	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)	617	BCS1L	Pathogenic	121908577	RCV000006545\|RCV000779835\|RCV001835622\|RCV002243624\|RCV002476937\|RCV002512833;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MOND	2	219526569	219526569	2:g.219526569G>A	ClinGen:CA118021,UniProtKB:Q9Y276#VAR_032089,OMIM:603647.0008	C0266006 262000 Pili torti-deafness syndrome;
NM_001079866.2(BCS1L):c.554G>A (p.Arg185Gln)	617	BCS1L	Uncertain significance	755462817	RCV001950093\|RCV002479473;	N	MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219526575	219526575	219526575	-
NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter)	617	BCS1L	Pathogenic/Likely pathogenic	779331797	RCV000409533\|RCV001050600\|RCV003475966;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MedGen:C3661900\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219526577	219526577	2:g.219526577C>T	ClinGen:CA2109694	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.580C>T (p.Gln194Ter)	617	BCS1L	Likely pathogenic	-1	RCV003474342;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219526601	219526601		-
NM_001079866.2(BCS1L):c.585G>C (p.Gln195His)	617	BCS1L	Uncertain significance	771252024	RCV001894932\|RCV002490047;	N	MedGen:C3661900\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219526606	219526606	219526606	-
NM_001079866.2(BCS1L):c.604_605insC (p.Val202fs)	617	BCS1L	Likely pathogenic	-1	RCV002310184;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219526625	219526626	219526625	-
NM_001079866.2(BCS1L):c.627C>T (p.Ile209=)	617	BCS1L	Likely benign	374582626	RCV000941864\|RCV001274431\|RCV002489265;	N	MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000	2	219526648	219526648	2:g.219526648C>T	-
NM_001079866.2(BCS1L):c.655+63C>T	617	BCS1L	Benign	36085075	RCV000835663\|RCV001527146\|RCV001527147\|RCV001527148;	N	MedGen:C3661900\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902	2	219526739	219526739	2:g.219526739C>T	-
NM_001079866.2(BCS1L):c.671_675del (p.Arg224fs)	617	BCS1L	Likely pathogenic	-1	RCV003474341;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219526934	219526938		-
NM_001079866.2(BCS1L):c.696del (p.Gly233fs)	617	BCS1L	Pathogenic/Likely pathogenic	775388576	RCV001383446\|RCV002486327\|RCV002546308\|RCV003473864;	N	MedGen:C3661900\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693; MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009872,	2	219526960	219526960	219526959	-
NM_001079866.2(BCS1L):c.702C>T (p.Cys234=)	617	BCS1L	Likely benign	140405116	RCV000442583\|RCV000970435\|RCV002480283;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219526966	219526966	2:g.219526966C>T	ClinGen:CA2109730	CN169374 not specified;
NM_001079866.2(BCS1L):c.702C>A (p.Cys234Ter)	617	BCS1L	Likely pathogenic	-1	RCV002308350;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219526966	219526966	219526966	-
NM_001079866.2(BCS1L):c.734_735delinsC (p.Gly245fs)	617	BCS1L	Likely pathogenic	-1	RCV003474344;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219527247	219527248		-
NM_001079866.2(BCS1L):c.793_796del (p.Arg265fs)	617	BCS1L	Likely pathogenic	-1	RCV003474346;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219527303	219527306		-
NM_001079866.2(BCS1L):c.793C>T (p.Arg265Ter)	617	BCS1L	Pathogenic/Likely pathogenic	-1	RCV002603583\|RCV003475513;	N	MedGen:C3661900\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219527306	219527306	NC_000002.11:g.219527306C>T	-
NM_001079866.2(BCS1L):c.798_799insCACCGGCCTCCACC (p.Asn267fs)	617	BCS1L	Likely pathogenic	-1	RCV002310019;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219527310	219527311	219527310	-
NM_001079866.2(BCS1L):c.821del (p.Pro274fs)	617	BCS1L	Pathogenic/Likely pathogenic	760559534	RCV000671907\|RCV001383886\|RCV003472142;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MedGen:C3661900\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219527331	219527331	2:g.219527331_219527331del	-	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)	617	BCS1L	Conflicting interpretations of pathogenicity	201454788	RCV000195977\|RCV000368540\|RCV000586158\|RCV000675151;	N	MedGen:C3661900\|MedGen:CN239240\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219527384	219527384	2:g.219527384C>T	ClinGen:CA320362	CN239240 BCS1L-Related Disorders;
NM_001079866.2(BCS1L):c.876del (p.Leu293fs)	617	BCS1L	Likely pathogenic	-1	RCV003474353;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219527389	219527389		-
NM_001079866.2(BCS1L):c.889+1G>T	617	BCS1L	Pathogenic/Likely pathogenic	1057516346	RCV000411192\|RCV000522697\|RCV002502421\|RCV003475942;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MedGen:C3661900\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693; MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000	2	219527403	219527403	2:g.219527403G>T	ClinGen:CA16040864	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.897_898insCC (p.Lys300fs)	617	BCS1L	Likely pathogenic	-1	RCV003474350;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219527613	219527614		-
NM_001079866.2(BCS1L):c.901T>A (p.Tyr301Asn)	617	BCS1L	Pathogenic	587777278	RCV000114392;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219527617	219527617	2:g.219527617T>A	ClinGen:CA151154,UniProtKB:Q9Y276#VAR_072244,OMIM:603647.0013	C0266006 262000 Pili torti-deafness syndrome;
NM_001079866.2(BCS1L):c.903C>A (p.Tyr301Ter)	617	BCS1L	Pathogenic/Likely pathogenic	1939635954	RCV002042163\|RCV003475114;	N	MedGen:C3661900\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219527619	219527619	219527619	-
NM_001079866.2(BCS1L):c.916C>T (p.Arg306Cys)	617	BCS1L	Pathogenic/Likely pathogenic	1197613485	RCV001972684\|RCV002492132\|RCV003475238;	N	MedGen:C3661900\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123; MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000,O	2	219527632	219527632	219527632	-
NM_001079866.2(BCS1L):c.917G>A (p.Arg306His)	617	BCS1L	Pathogenic/Likely pathogenic	1280810181	RCV001383887\|RCV002499798\|RCV003473948;	N	MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000,O	2	219527633	219527633	219527633	-
NM_001079866.2(BCS1L):c.925T>C (p.Phe309Leu)	617	BCS1L	Uncertain significance	141618813	RCV001776430\|RCV002478005;	N	MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693; MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902	2	219527641	219527641	219527641	-
NM_001079866.2(BCS1L):c.950_953del (p.Asp317fs)	617	BCS1L	Likely pathogenic	-1	RCV003474347;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219527663	219527666		-
NM_001079866.2(BCS1L):c.985A>G (p.Met329Val)	617	BCS1L	Uncertain significance	779805975	RCV000442263\|RCV001833542\|RCV002480307;	N	MedGen:CN517202\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000	2	219527701	219527701	2:g.219527701A>G	ClinGen:CA2109807	CN169374 not specified;
NM_001079866.2(BCS1L):c.993_999del (p.Asn332fs)	617	BCS1L	Likely pathogenic	-1	RCV003474338;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219527704	219527710		-
NM_001079866.2(BCS1L):c.1007+16G>A	617	BCS1L	Benign/Likely benign	115594405	RCV000123834\|RCV002055429\|RCV002492450;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123; MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902	2	219527739	219527739	2:g.219527739G>A	ClinGen:CA289676	CN169374 not specified;
NM_001079866.2(BCS1L):c.1026dup (p.Arg343fs)	617	BCS1L	Likely pathogenic	-1	RCV003474345;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219527874	219527875		-
NM_001079866.2(BCS1L):c.1057G>A (p.Val353Met)	617	BCS1L	Conflicting interpretations of pathogenicity	121908574	RCV000006541\|RCV001851699\|RCV003472986;	N	MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MedGen:C3661900\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219527906	219527906	2:g.219527906G>A	ClinGen:CA117999,UniProtKB:Q9Y276#VAR_018164,OMIM:603647.0004	C1852372 124000 Mitochondrial complex III deficiency;
NM_001079866.2(BCS1L):c.1070C>A (p.Ser357Ter)	617	BCS1L	Likely pathogenic	-1	RCV003474352;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219527919	219527919		-
NM_001079866.2(BCS1L):c.1076G>A (p.Trp359Ter)	617	BCS1L	Likely pathogenic	-1	RCV003474340;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219527925	219527925		-
NM_001079866.2(BCS1L):c.1156C>T (p.Arg386Ter)	617	BCS1L	Likely pathogenic	-1	RCV003474351;	N	MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219528005	219528005		-
NM_001079866.2(BCS1L):c.1157G>A (p.Arg386Gln)	617	BCS1L	Uncertain significance	775817146	RCV001945689\|RCV002484569;	N	MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693; MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123; MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902	2	219528006	219528006	219528006	-
NM_001079866.2(BCS1L):c.1220del (p.Pro407fs)	617	BCS1L	Uncertain significance	2106333049	RCV001580641\|RCV001580642\|RCV001580643;	N	MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0009872,MedGen:C0266006,OMIM:262000, Orphanet:123	2	219528067	219528067	219528066	-