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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: Acidosis, Lactic (D000140)
Parent Node: Cholestasis (D002779)
Parent Node: Fetal Growth Retardation (D005317)
Parent Node: Hemosiderosis (D006486)
Parent Node: Metabolism, Inborn Errors (D008661)
Parent Node: Mitochondrial Diseases (D028361)
Parent Node: Renal Aminoacidurias (D000608)
..Starting node ..Finnish lethal neonatal metabolic syndrome (C537934)
Child Nodes:
Sister Nodes:
..Cystinuria (D003555) 3 C:1
..Dicarboxylicaminoaciduria (C536171)
..Finnish lethal neonatal metabolic syndrome (C537934) L: 00104;
..Hartnup Disease (D006250)
..Histidinuria renal tubular defect (C538321)
..Rowley-Rosenberg syndrome (C535874)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4761

Name:

Finnish lethal neonatal metabolic syndrome

Definition:

Alternative IDs:

OMIM:603358

ParentIDs:

TreeNumbers:

C06.130.120.135/C537934 |C12.777.419.815.885/C537934 |C13.351.968.419.815.885/C537934 |C13.703.277.370/C537934 |C16.300.390/C537934 |C16.320.565.861.885/C537934 |C16.320.565/C537934 |C18.452.076.176.180/C537934 |C18.452.565.500.500/C537934 |C18.452.648.861.885/C5

Synonyms:

Slim Mappings:

Reference:

MedGen: C537934
MeSH: C537934
OMIM: 603358;
MSeqDR : 00104;
Genes: BCS1L;

Phenotypes

1	HP:0003355	Aminoaciduria	HP:0040284 Neonatal onset
2	HP:0001396	Cholestasis	HP:0040284 Neonatal onset
3	HP:0004925	Chronic lactic acidosis	Neonatal onset
4	HP:0003281	Increased serum ferritin	Neonatal onset
5	HP:0003452	Increased serum iron	Neonatal onset
6	HP:0003542	Increased serum pyruvate	Neonatal onset
7	HP:0001511	Intrauterine growth retardation
8	HP:0001319	Neonatal hypotonia NAMDC: Floppy baby	HP:0040284 Neonatal onset

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000002.11:g.(?_219524378)_(219528167_?)del	617	BCS1L	Pathogenic	-1	RCV002271813;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219524378	219528167	-1	-
NM_001079866.2(BCS1L):c.-85G>A	617	BCS1L	Uncertain significance	938140522	RCV001142597\|RCV001142598\|RCV001142599\|RCV002491427;	N	MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|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; M	2	219524431	219524431	2:g.219524431G>A	-
NM_001079866.2(BCS1L):c.-53G>T	617	BCS1L	Uncertain significance	886055624	RCV000260413\|RCV000315836\|RCV000355262;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	2	219524463	219524463	2:g.219524463G>T	ClinGen:CA10612817	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.-50+1G>A	617	BCS1L	Uncertain significance	1553595158	RCV000672234;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219524467	219524467	2:g.219524467G>A	-	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.-50+1G>T	617	BCS1L	Uncertain significance	1553595158	RCV000670392;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219524467	219524467	2:g.219524467G>T	-	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.-50+2T>G	617	BCS1L	Uncertain significance	1553595166	RCV000671957;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219524468	219524468	NC_000002.11:g.219524468T>G	-	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.-50+380G>C	617	BCS1L	Uncertain significance	889798623	RCV002244139;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219524846	219524846	219524846	-
NM_001079866.2(BCS1L):c.-50+388C>G	617	BCS1L	Likely pathogenic	1006907254	RCV000987030;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219524854	219524854	2:g.219524854C>G	-
NM_001079866.2(BCS1L):c.-50+405A>G	617	BCS1L	Conflicting interpretations of pathogenicity	898301590	RCV000668517\|RCV001334241\|RCV002532074;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MedGen:CN517202	2	219524871	219524871	2:g.219524871A>G	-	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.-50+425T>C	617	BCS1L	Uncertain significance	886055625	RCV000275953\|RCV000330985\|RCV000389070;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506	2	219524891	219524891	2:g.219524891T>C	ClinGen:CA10614322	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.-50+458T>G	617	BCS1L	Uncertain significance	188224298	RCV000291289\|RCV000346257\|RCV000385604\|RCV000676998;	N	MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MedGen:CN517202	2	219524924	219524924	2:g.219524924T>G	ClinGen:CA10612818	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.-50+541G>A	617	BCS1L	Benign	3806556	RCV000833013\|RCV001273159;	N	MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219525007	219525007	2:g.219525007G>A	-
NM_001079866.2(BCS1L):c.-50+563G>A	617	BCS1L	Benign	77595651	RCV001666906\|RCV001827572;	N	MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219525029	219525029	219525029	-
NM_001079866.2(BCS1L):c.-49-595A>G	617	BCS1L	Likely benign	77487601	RCV000834868\|RCV001835985;	N	MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219525067	219525067	2:g.219525067A>G	-
NM_001079866.2(BCS1L):c.-49-539T>A	617	BCS1L	Uncertain significance	386833855	RCV000049824;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219525123	219525123	2:g.219525123T>A	ClinGen:CA144343	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.-43G>A	617	BCS1L	Conflicting interpretations of pathogenicity	145989550	RCV000198605\|RCV000289306\|RCV000341934\|RCV000382259;	N	MedGen:CN169374\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219525668	219525668	2:g.219525668G>A	ClinGen:CA323137	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.-14G>A	617	BCS1L	Conflicting interpretations of pathogenicity	367721351	RCV000302189\|RCV000340599\|RCV000395551\|RCV000605569;	N	MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MedGen:CN169374	2	219525697	219525697	2:g.219525697G>A	ClinGen:CA2109591	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.1A>T (p.Met1Leu)	617	BCS1L	Likely pathogenic	-1	RCV003331768;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219525711	219525711		-
NM_001079866.2(BCS1L):c.53del (p.Ala18fs)	617	BCS1L	Likely pathogenic	1553595997	RCV000670398;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219525763	219525763	2:g.219525763_219525763del	-	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.112C>G (p.Leu38Val)	617	BCS1L	Uncertain significance	886055626	RCV000300923\|RCV000353398\|RCV000402322;	N	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219525822	219525822	2:g.219525822C>G	ClinGen:CA10614187	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.126A>G (p.Ala42=)	617	BCS1L	Conflicting interpretations of pathogenicity	144200704	RCV000200525\|RCV000886562\|RCV001140853\|RCV001140093\|RCV001140092;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902	2	219525836	219525836	2:g.219525836A>G	ClinGen:CA325107	CN169374 not specified;
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.142A>G (p.Met48Val)	617	BCS1L	Conflicting interpretations of pathogenicity	755305281	RCV000196925\|RCV000987031\|RCV001853169;	N	MedGen:CN169374\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MedGen:CN517202	2	219525852	219525852	2:g.219525852A>G	ClinGen:CA321344	CN169374 not specified;
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)	617	BCS1L	Pathogenic	121908576	RCV000006544\|RCV000195481\|RCV000260660\|RCV000576565\|RCV000763069\|RCV003472989;	N	MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MedGen:C3661900\|MedGen:CN239240\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0009872,MedGen:C02	2	219525876	219525876	2:g.219525876C>T	ClinGen:CA118015,OMIM:603647.0007	CN239240 BCS1L-Related Disorders;
NM_001079866.2(BCS1L):c.171C>T (p.Asp57=)	617	BCS1L	Conflicting interpretations of pathogenicity	756932413	RCV000432338\|RCV001140854\|RCV001140856\|RCV001140855\|RCV001484726;	N	MedGen:CN169374\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MedGen:CN517202	2	219525881	219525881	2:g.219525881C>T	ClinGen:CA2109614	CN169374 not specified;
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.201C>T (p.Leu67=)	617	BCS1L	Conflicting interpretations of pathogenicity	142540289	RCV000273790\|RCV000313563\|RCV000370613\|RCV000376147;	N	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\|MedGen:C3661900	2	219525911	219525911	2:g.219525911C>T	ClinGen:CA2109620	C1864002 603358 GRACILE syndrome;
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.217C>T (p.Arg73Cys)	617	BCS1L	Conflicting interpretations of pathogenicity	140812286	RCV000670706\|RCV000778591\|RCV001171821;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MedGen:C3661900	2	219525927	219525927	2:g.219525927C>T	-	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly)	617	BCS1L	Pathogenic	28937590	RCV000006542\|RCV000519547\|RCV000983982\|RCV002476936\|RCV003472987;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MedGen:C3661900\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902; MONDO:MONDO:0009872,MedGen:C0266006,OMIM:26200	2	219525942	219525942	2:g.219525942A>G	ClinGen:CA118004,UniProtKB:Q9Y276#VAR_018149,OMIM:603647.0005	C1864002 603358 GRACILE syndrome;
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.255_257del (p.Gln85del)	617	BCS1L	Uncertain significance	1553596345	RCV000672098\|RCV001868262;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MedGen:CN517202	2	219525963	219525965	2:g.219525963_219525965del	-	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.258T>C (p.His86=)	617	BCS1L	Conflicting interpretations of pathogenicity	886055627	RCV000272188\|RCV000330882\|RCV000364504\|RCV000982868;	N	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\|MedGen:CN517202	2	219525968	219525968	2:g.219525968T>C	ClinGen:CA10612819	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.291_293del (p.Val98del)	617	BCS1L	Uncertain significance	1293818477	RCV000670438;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219526000	219526002	2:g.219526000_219526002del	-	C1864002 603358 GRACILE syndrome;
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.303T>G (p.Pro101=)	617	BCS1L	Likely benign	138756092	RCV000918838\|RCV001274428;	N	MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219526013	219526013	2:g.219526013T>G	-
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.321-12G>A	617	BCS1L	Uncertain significance	776363896	RCV000285241\|RCV000324948\|RCV000382055;	N	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219526117	219526117	2:g.219526117G>A	ClinGen:CA2109643	C1864002 603358 GRACILE syndrome;
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.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.372dup (p.Asp125fs)	617	BCS1L	Likely pathogenic	1553596638	RCV000673264;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219526179	219526180	2:g.219526179_219526180insA	-	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.383C>T (p.Thr128Met)	617	BCS1L	Uncertain significance	780752138	RCV000434040\|RCV001833541;	N	MedGen:CN517202\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219526191	219526191	2:g.219526191C>T	ClinGen:CA2109655	CN169374 not specified;
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.413C>T (p.Thr138Met)	617	BCS1L	Uncertain significance	775793638	RCV000666979\|RCV001855471\|RCV002282302;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MedGen:CN517202\|MedGen:CN169374	2	219526221	219526221	2:g.219526221C>T	-	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.418del (p.Leu140fs)	617	BCS1L	Pathogenic/Likely pathogenic	1057517412	RCV000409243\|RCV001266390\|RCV001865274;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	2	219526224	219526224	NC_000002.11:g.219526226del	ClinGen:CA16040860	C1864002 603358 GRACILE syndrome;
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.431G>A (p.Arg144Gln)	617	BCS1L	Likely pathogenic	386833857	RCV000049826;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219526239	219526239	2:g.219526239G>A	ClinGen:CA144345,UniProtKB:Q9Y276#VAR_018160	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.441C>T (p.Phe147=)	617	BCS1L	Pathogenic	2106324466	RCV001844327;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219526249	219526249	219526249	-
NM_001079866.2(BCS1L):c.460+1G>A	617	BCS1L	Likely pathogenic	1553596761	RCV000673227;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219526269	219526269	2:g.219526269G>A	-	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.460+2T>C	617	BCS1L	Likely pathogenic	1057516954	RCV000409791\|RCV002523865;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MedGen:CN517202	2	219526270	219526270	2:g.219526270T>C	ClinGen:CA16040861	C1864002 603358 GRACILE syndrome;
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.472del (p.Ala158fs)	617	BCS1L	Likely pathogenic	1553596929	RCV000674598;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219526493	219526493	2:g.219526493_219526493del	-	C1864002 603358 GRACILE syndrome;
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.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.534del (p.Phe179fs)	617	BCS1L	Likely pathogenic	1553596996	RCV000674599;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219526553	219526553	2:g.219526553_219526553del	-	C1864002 603358 GRACILE syndrome;
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.550C>T (p.Arg184Cys)	617	BCS1L	Conflicting interpretations of pathogenicity	121908578	RCV000006546\|RCV000034811\|RCV000384654\|RCV001142701\|RCV001142702\|RCV003472990;	N	MedGen:C4016851\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MedGen:C3661900\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0009872,MedGen:C02660	2	219526571	219526571	2:g.219526571C>T	ClinGen:CA118026,UniProtKB:Q9Y276#VAR_032090,OMIM:603647.0009	C4016851 Bjornstad syndrome with mild mitochondrial complex III deficiency;
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.566A>G (p.Asn189Ser)	617	BCS1L	Uncertain significance	1939494232	RCV001137959\|RCV001137960\|RCV001142703;	N	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	2	219526587	219526587	2:g.219526587A>G	-
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.598C>T (p.Arg200Ter)	617	BCS1L	Pathogenic/Likely pathogenic	776838028	RCV000415338\|RCV000497971\|RCV002502446\|RCV003476004;	N	MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|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:26200	2	219526619	219526619	NC_000002.11:g.219526619C>T	ClinGen:CA2109700	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.607_615del (p.Arg203_Val205del)	617	BCS1L	Uncertain significance	1553597114	RCV000666246;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219526625	219526633	2:g.219526625_219526633del	-	C1864002 603358 GRACILE syndrome;
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.607dup (p.Arg203fs)	617	BCS1L	Pathogenic/Likely pathogenic	1057516255	RCV000410319\|RCV001043703;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MedGen:CN517202	2	219526627	219526628	2:g.219526627_219526628insA	ClinGen:CA16040862	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.612C>T (p.Asp204=)	617	BCS1L	Likely benign	201726747	RCV000932002\|RCV001274430;	N	MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219526633	219526633	2:g.219526633C>T	-
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile)	617	BCS1L	Conflicting interpretations of pathogenicity	148278887	RCV000200623\|RCV000714568\|RCV000949252\|RCV001137962\|RCV001137963\|RCV001137961;	N	MedGen:CN169374\|MedGen:CN239240\|MedGen:C3661900\|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	2	219526634	219526634	2:g.219526634G>A	ClinGen:CA325212	CN169374 not specified;
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.628G>A (p.Asp210Asn)	617	BCS1L	Benign/Likely benign	58447305	RCV000123832\|RCV000281286\|RCV000324040\|RCV000376268\|RCV000677000\|RCV001527285;	N	MedGen:CN169374\|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\|MedGen:C3661900\|MONDO:MONDO:0009872,MedGen:C02660	2	219526649	219526649	2:g.219526649G>A	ClinGen:CA289666	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.655+1G>A	617	BCS1L	Likely pathogenic	1057516802	RCV000410918;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219526677	219526677	2:g.219526677G>A	ClinGen:CA16040863	C1864002 603358 GRACILE syndrome;
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.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.703G>A (p.Gly235Arg)	617	BCS1L	Conflicting interpretations of pathogenicity	368486097	RCV000255431\|RCV000670051\|RCV001329215;	N	MedGen:CN517202\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902	2	219526967	219526967	2:g.219526967G>A	ClinGen:CA2109732	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=)	617	BCS1L	Conflicting interpretations of pathogenicity	781666793	RCV000279975\|RCV000338686\|RCV000394839\|RCV000927961;	N	MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MedGen:CN517202	2	219527281	219527281	2:g.219527281C>G	ClinGen:CA2109753	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.771G>A (p.Thr257=)	617	BCS1L	Conflicting interpretations of pathogenicity	148302981	RCV000438295\|RCV001138380\|RCV001138378\|RCV001138379\|RCV002521706;	N	MedGen:CN169374\|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\|MedGen:CN517202	2	219527284	219527284	2:g.219527284G>A	ClinGen:CA2109755	CN169374 not specified;
NM_001079866.2(BCS1L):c.772del (p.Asp258fs)	617	BCS1L	Pathogenic/Likely pathogenic	1363475546	RCV000670440\|RCV001855542;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MedGen:CN517202	2	219527284	219527284	2:g.219527284_219527284del	-	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.775T>A (p.Ser259Thr)	617	BCS1L	Benign/Likely benign	77729067	RCV000825054\|RCV000903722\|RCV001276430;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219527288	219527288	2:g.219527288T>A	-
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.822G>A (p.Pro274=)	617	BCS1L	Conflicting interpretations of pathogenicity	112329020	RCV000311482\|RCV000351273\|RCV000401551\|RCV000426045\|RCV000913045;	N	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MedGen:CN169374\|MedGen:C3661900	2	219527335	219527335	2:g.219527335G>A	ClinGen:CA2109770	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.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.889+1G>A	617	BCS1L	Likely pathogenic	1057516346	RCV000665667;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219527403	219527403	2:g.219527403G>A	-	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.889+2dup	617	BCS1L	Uncertain significance	1553597661	RCV000669828;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219527403	219527404	2:g.219527403_219527404insT	-	C1864002 603358 GRACILE syndrome;
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.965C>G (p.Thr322Ser)	617	BCS1L	Uncertain significance	777854469	RCV000197482\|RCV001833144;	N	MedGen:CN517202\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219527681	219527681	2:g.219527681C>G	ClinGen:CA321951	CN169374 not specified;
NM_001079866.2(BCS1L):c.966C>T (p.Thr322=)	617	BCS1L	Likely benign	745785523	RCV000932355\|RCV001276431;	N	MedGen:CN517202\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219527682	219527682	2:g.219527682C>T	-
NM_001079866.2(BCS1L):c.967G>A (p.Glu323Lys)	617	BCS1L	Uncertain significance	372817977	RCV000434721\|RCV001833558;	N	MedGen:CN517202\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219527683	219527683	2:g.219527683G>A	ClinGen:CA2109802	CN169374 not specified;
NM_001079866.2(BCS1L):c.973dup (p.Arg325fs)	617	BCS1L	Likely pathogenic	1057516518	RCV000412303;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219527686	219527687	2:g.219527686_219527687insC	ClinGen:CA16040865	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.980T>C (p.Val327Ala)	617	BCS1L	Likely pathogenic	386833858	RCV000049827;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219527696	219527696	2:g.219527696T>C	ClinGen:CA144350,UniProtKB:Q9Y276#VAR_018163	C1864002 603358 GRACILE syndrome;
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.996C>T (p.Asn332=)	617	BCS1L	Benign	33946522	RCV000123833\|RCV000310745\|RCV000363248\|RCV000401829\|RCV000677001\|RCV001527149;	N	MedGen:CN169374\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MedGen:C3661900\|MONDO:MONDO:0009872,MedGen:C02660	2	219527712	219527712	2:g.219527712C>T	ClinGen:CA289671	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile)	617	BCS1L	Conflicting interpretations of pathogenicity	146731467	RCV000825116\|RCV000885856\|RCV001140960\|RCV001140962\|RCV001140961;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902	2	219527716	219527716	2:g.219527716G>A	-
NM_001079866.2(BCS1L):c.1007+2_1007+5del	617	BCS1L	Likely pathogenic	1553597934	RCV000665738;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219527722	219527725	2:g.219527722_219527725del	-	C1864002 603358 GRACILE syndrome;
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.1017T>C (p.Pro339=)	617	BCS1L	Benign	35843327	RCV000123835\|RCV000270977\|RCV000323471\|RCV000361877\|RCV000677002\|RCV001527150;	N	MedGen:CN169374\|MONDO:MONDO:0007415,MedGen:C3541471,OMIM:124000, Orphanet:254902\|MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MedGen:C3661900\|MONDO:MONDO:0009872,MedGen:C02660	2	219527866	219527866	2:g.219527866T>C	ClinGen:CA289677	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.1036C>T (p.Arg346Ter)	617	BCS1L	Likely pathogenic	550497120	RCV000670083;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219527885	219527885	2:g.219527885C>T	-	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.1048_1050del (p.Lys350del)	617	BCS1L	Uncertain significance	906812769	RCV000667122;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219527896	219527898	2:g.219527896_219527898del	-	C1864002 603358 GRACILE syndrome;
NM_001079866.2(BCS1L):c.1127T>A (p.Leu376Ter)	617	BCS1L	Likely pathogenic	1553598145	RCV000674449;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219527976	219527976	2:g.219527976T>A	-	C1864002 603358 GRACILE syndrome;
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.1186del (p.Val396fs)	617	BCS1L	Likely pathogenic	-1	RCV002302512;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219528034	219528034	219528033	-
NM_001079866.2(BCS1L):c.1196_1198dup (p.Tyr399dup)	617	BCS1L	Uncertain significance	1553598193	RCV000674094;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219528042	219528043	2:g.219528042_219528043insCTA	-	C1864002 603358 GRACILE syndrome;
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	-
NM_001079866.2(BCS1L):c.1244_1245del (p.Glu415fs)	617	BCS1L	Likely pathogenic	1057516786	RCV000411872;	N	MONDO:MONDO:0011308,MedGen:C1864002,OMIM:603358, Orphanet:53693	2	219528092	219528093	2:g.219528092_219528093del	ClinGen:CA16040866	C1864002 603358 GRACILE syndrome;