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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: Anemia, Aplastic (D000741)
Parent Node: Bone Marrow Diseases (D001855)
Parent Node: Hemoglobinuria, Paroxysmal (D006457)
..Starting node ..Bone Marrow failure syndromes (C536572)
Child Nodes:
Sister Nodes:
..Bone Marrow failure syndromes (C536572)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

1470

Name:

Bone Marrow failure syndromes

Definition:

Alternative IDs:

OMIM:614675|OMIM:615715|OMIM:617052

ParentIDs:

MESH:D000741|MESH:D001855|MESH:D006457

TreeNumbers:

C15.378.071.085/C536572 |C15.378.071.141.560/C536572 |C15.378.190.196/C536572 |C15.378.190.625.460/C536572 |C15.378.190/C536572

Synonyms:

Slim Mappings:

Blood disease

Reference:

MedGen: C536572
MeSH: C536572
OMIM: 614675;
MSeqDR :
Genes: ERCC6L2; SRP72;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001915	Aplastic anemia
3	HP:0005528	Bone marrow hypocellularity
4	HP:0000365	Hearing impairment
5	HP:0002863	Myelodysplasia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_006947.4(SRP72):c.7A>G (p.Ser3Gly)	6731	SRP72	Uncertain significance	rs1719782337	RCV001151984;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57333808	57333808	A	G	4:g.57333808A>G	-
NM_006947.4(SRP72):c.19G>T (p.Gly7Trp)	6731	SRP72	Benign	rs17524437	RCV000391775\|RCV000962859;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN517202	4	57333820	57333820	G	T	NC_000004.11:g.57333820G>T	ClinGen:CA2930920	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.20G>A (p.Gly7Glu)	6731	SRP72	Conflicting interpretations of pathogenicity	rs139502866	RCV000312195\|RCV001821062\|RCV001850853;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN169374\|MedGen:CN517202	4	57333821	57333821	G	A	NC_000004.11:g.57333821G>A	ClinGen:CA2930923	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.20G>C (p.Gly7Ala)	6731	SRP72	Benign/Likely benign	rs139502866	RCV000500157\|RCV000445168\|RCV001151985;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57333821	57333821	G	C	NC_000004.11:g.57333821G>C	ClinGen:CA2930922	CN517202 not provided;
NM_006947.4(SRP72):c.21G>T (p.Gly7=)	6731	SRP72	Benign	rs12513091	RCV000364512\|RCV001518009;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN517202	4	57333822	57333822	G	T	NC_000004.11:g.57333822G>T	ClinGen:CA2930925	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.23G>A (p.Gly8Glu)	6731	SRP72	Benign	rs760960779	RCV000272329;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57333824	57333824	G	A	NC_000004.11:g.57333824G>A	ClinGen:CA2930929	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.29C>T (p.Ser10Leu)	6731	SRP72	Uncertain significance	rs752240949	RCV001153246;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57333830	57333830	C	T	4:g.57333830C>T	-
NM_006947.4(SRP72):c.37G>T (p.Ala13Ser)	6731	SRP72	Conflicting interpretations of pathogenicity	rs781230154	RCV000325091\|RCV001861232;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN517202	4	57333838	57333838	G	T	NC_000004.11:g.57333838G>T	ClinGen:CA2930940	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp)	6731	SRP72	Benign/Likely benign	rs111673705	RCV000363461\|RCV000502255\|RCV001498849;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN169374\|MedGen:CN517202	4	57333859	57333859	C	T	NC_000004.11:g.57333859C>T	ClinGen:CA2930944	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.110-5T>G	6731	SRP72	Conflicting interpretations of pathogenicity	rs186908289	RCV001153247\|RCV001759910;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN517202	4	57335814	57335814	T	G	4:g.57335814T>G	-
NM_006947.4(SRP72):c.133G>A (p.Val45Ile)	6731	SRP72	Conflicting interpretations of pathogenicity	rs201940585	RCV000266588\|RCV001355587\|RCV001821063;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN517202\|MedGen:CN169374	4	57335842	57335842	G	A	NC_000004.11:g.57335842G>A	ClinGen:CA2930980	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.144G>T (p.Leu48=)	6731	SRP72	Benign/Likely benign	rs112496764	RCV000321084\|RCV000908697;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN517202	4	57335853	57335853	G	T	NC_000004.11:g.57335853G>T	ClinGen:CA2930983	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.294G>A (p.Leu98=)	6731	SRP72	Benign	rs145137299	RCV000378058\|RCV002061246;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN517202	4	57337949	57337949	G	A	NC_000004.11:g.57337949G>A	ClinGen:CA2931030	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.406G>A (p.Val136Ile)	6731	SRP72	Benign/Likely benign	rs145817936	RCV000281124\|RCV001821064\|RCV001510023;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN169374\|MedGen:CN517202	4	57340271	57340271	G	A	NC_000004.11:g.57340271G>A	ClinGen:CA2931058	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.574C>G (p.Leu192Val)	6731	SRP72	Uncertain significance	rs772592244	RCV001155843;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57340521	57340521	C	G	4:g.57340521C>G	-
NM_006947.4(SRP72):c.610+35C>T	6731	SRP72	Benign	-1	RCV001613770\|RCV001810120;	N	MedGen:CN517202\|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57340592	57340592	C	T	57340592	-
NM_006947.4(SRP72):c.620G>A (p.Arg207His)	6731	SRP72	Uncertain significance	rs387907189	RCV000024353\|RCV001852568;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN517202	4	57342846	57342846	G	A	4:g.57342846G>A	OMIM:602122.0002,ClinGen:CA129879,UniProtKB:O76094#VAR_068522	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.686A>G (p.His229Arg)	6731	SRP72	Benign	rs138986942	RCV000319836\|RCV001511218;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN517202	4	57344588	57344588	A	G	NC_000004.11:g.57344588A>G	ClinGen:CA2931154	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.789A>G (p.Leu263=)	6731	SRP72	Benign	rs77935196	RCV000372097\|RCV001821065\|RCV002057933;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN169374\|MedGen:CN517202	4	57344779	57344779	A	G	NC_000004.11:g.57344779A>G	ClinGen:CA2931179	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.826-23A>G	6731	SRP72	Benign	-1	RCV001617912\|RCV001810150;	N	MedGen:CN517202\|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57349282	57349282	A	G	57349282	-
NM_006947.4(SRP72):c.973A>G (p.Lys325Glu)	6731	SRP72	Uncertain significance	rs763655714	RCV000279818;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57350917	57350917	A	G	NC_000004.11:g.57350917A>G	ClinGen:CA2931245	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.979T>C (p.Ser327Pro)	6731	SRP72	Uncertain significance	rs1040868057	RCV001155845;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57350923	57350923	T	C	4:g.57350923T>C	-
NM_006947.4(SRP72):c.1064_1065del (p.Thr355fs)	6731	SRP72	Pathogenic	rs587776907	RCV000024352;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57351004	57351005	GCA	G	4:g.57351004_57351005del	ClinGen:CA129878,OMIM:602122.0001	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1225-6G>A	6731	SRP72	Likely benign	rs752594366	RCV000293187;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57355548	57355548	G	A	NC_000004.11:g.57355548G>A	ClinGen:CA2931314	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1380T>C (p.Tyr460=)	6731	SRP72	Benign/Likely benign	rs73818109	RCV000350488\|RCV000897840;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN517202	4	57356558	57356558	T	C	NC_000004.11:g.57356558T>C	ClinGen:CA2931346	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1410A>G (p.Leu470=)	6731	SRP72	Benign	rs17086879	RCV000401507\|RCV001514927;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN517202	4	57356588	57356588	A	G	NC_000004.11:g.57356588A>G	ClinGen:CA2931352	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1589T>C (p.Ile530Thr)	6731	SRP72	Benign/Likely benign	rs192401229	RCV000194579\|RCV000310610\|RCV000908698;	N	MedGen:CN169374\|MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN517202	4	57357683	57357683	T	C	NC_000004.11:g.57357683T>C	ClinGen:CA208823	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1636C>A (p.Gln546Lys)	6731	SRP72	Uncertain significance	rs1185247120	RCV001157548\|RCV002032457;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN517202	4	57357730	57357730	C	A	4:g.57357730C>A	-
NM_006947.4(SRP72):c.1640+6dup	6731	SRP72	Benign/Likely benign	rs572508224	RCV000363241\|RCV000502048\|RCV000950121;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN169374\|MedGen:CN517202	4	57357739	57357740	T	TA	NC_000004.11:g.57357740dupA	ClinGen:CA2931417	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1650T>C (p.Asp550=)	6731	SRP72	Benign/Likely benign	rs202073540	RCV000391409\|RCV001821066\|RCV002057934;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN169374\|MedGen:CN517202	4	57361532	57361532	T	C	NC_000004.11:g.57361532T>C	ClinGen:CA2931436	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1671A>G (p.Lys557=)	6731	SRP72	Benign	rs34419325	RCV000304944\|RCV001509698\|RCV001821067;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN517202\|MedGen:CN169374	4	57361553	57361553	A	G	NC_000004.11:g.57361553A>G	ClinGen:CA2931440	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1698T>C (p.Tyr566=)	6731	SRP72	Likely benign	rs145347209	RCV000361991\|RCV000504137\|RCV001452033;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN169374\|MedGen:CN517202	4	57366721	57366721	T	C	NC_000004.11:g.57366721T>C	ClinGen:CA2931464	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1704A>G (p.Pro568=)	6731	SRP72	Benign/Likely benign	rs41280351	RCV000263972\|RCV002057935\|RCV001821068;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN517202\|MedGen:CN169374	4	57366727	57366727	A	G	NC_000004.11:g.57366727A>G	ClinGen:CA2931465	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1803G>A (p.Gly601=)	6731	SRP72	Benign/Likely benign	rs143643243	RCV000321410\|RCV000501088\|RCV001470594;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN169374\|MedGen:CN517202	4	57366826	57366826	G	A	NC_000004.11:g.57366826G>A	ClinGen:CA2931481	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1938C>G (p.His646Gln)	6731	SRP72	Uncertain significance	rs1721270142	RCV001152087;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57367949	57367949	C	G	4:g.57367949C>G	-
NM_006947.4(SRP72):c.2004A>G (p.Lys668=)	6731	SRP72	Benign/Likely benign	rs148068843	RCV000355312\|RCV000503122\|RCV001405951;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN169374\|MedGen:CN517202	4	57368015	57368015	A	G	NC_000004.11:g.57368015A>G	ClinGen:CA2931520	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*24G>A	6731	SRP72	Benign	rs144710632	RCV000262862;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368051	57368051	G	A	4:g.57368051G>A	ClinGen:CA2931526	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*125GT[1]	6731	SRP72	Uncertain significance	rs886059498	RCV000315753;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368151	57368152	TTG	T	NC_000004.11:g.57368152GT[1]	ClinGen:CA10617978	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*139G>A	6731	SRP72	Benign	rs28438730	RCV000372740\|RCV001692002;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN517202	4	57368166	57368166	G	A	NC_000004.11:g.57368166G>A	ClinGen:CA10618920	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*142A>G	6731	SRP72	Uncertain significance	rs878964615	RCV001152088;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368169	57368169	A	G	4:g.57368169A>G	-
NM_006947.4(SRP72):c.*173T>C	6731	SRP72	Benign	rs10051	RCV000295395\|RCV001643055;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399\|MedGen:CN517202	4	57368200	57368200	T	C	NC_000004.11:g.57368200T>C	ClinGen:CA10618922	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*194G>A	6731	SRP72	Uncertain significance	rs188713088	RCV000333970;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368221	57368221	G	A	NC_000004.11:g.57368221G>A	ClinGen:CA10621309	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*221A>G	6731	SRP72	Uncertain significance	rs149250989	RCV000386129;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368248	57368248	A	G	NC_000004.11:g.57368248A>G	ClinGen:CA10618924	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*227G>A	6731	SRP72	Uncertain significance	rs879875987	RCV000294141;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368254	57368254	G	A	NC_000004.11:g.57368254G>A	ClinGen:CA10621310	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*321A>G	6731	SRP72	Uncertain significance	rs886059499	RCV000346644;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368348	57368348	A	G	NC_000004.11:g.57368348A>G	ClinGen:CA10618930	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*386G>A	6731	SRP72	Benign	rs4260596	RCV000396841;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368413	57368413	G	A	NC_000004.11:g.57368413G>A	ClinGen:CA10621330	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*407T>C	6731	SRP72	Uncertain significance	rs541665813	RCV000288069;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368434	57368434	T	C	NC_000004.11:g.57368434T>C	ClinGen:CA10617987	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*442A>G	6731	SRP72	Benign	rs7762	RCV000345332;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368469	57368469	A	G	NC_000004.11:g.57368469A>G	ClinGen:CA10618931	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*473G>A	6731	SRP72	Uncertain significance	rs1020026480	RCV001153351;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368500	57368500	G	A	4:g.57368500G>A	-
NM_006947.4(SRP72):c.*505C>T	6731	SRP72	Uncertain significance	rs562987091	RCV001153352;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368532	57368532	C	T	4:g.57368532C>T	-
NM_006947.4(SRP72):c.*558T>C	6731	SRP72	Benign	rs568178342	RCV000398602;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368585	57368585	T	C	4:g.57368585T>C	ClinGen:CA10621343	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*606AT[10]	6731	SRP72	Uncertain significance	rs201131530	RCV000305756;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368631	57368632	T	TTATA	4:g.57368631_57368632insTATA	ClinGen:CA10621314	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*606A>T	6731	SRP72	Uncertain significance	rs868279024	RCV000340523;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368633	57368633	A	T	4:g.57368633A>T	ClinGen:CA10618932	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.622_649del	6731	SRP72	Benign	rs59791697	RCV000393078;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368635	57368662	TATATATATATATATGTATATATATATAC	T	4:g.57368635_57368662del	ClinGen:CA10621315	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*622G>A	6731	SRP72	Uncertain significance	rs775675334	RCV001155963;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368649	57368649	G	A	4:g.57368649G>A	-
NM_006947.4(SRP72):c.*624A>G	6731	SRP72	Uncertain significance	rs867685822	RCV001155964;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368651	57368651	A	G	4:g.57368651A>G	-
NM_006947.4(SRP72):c.*633T>C	6731	SRP72	Uncertain significance	rs867120149	RCV001155965;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368660	57368660	T	C	4:g.57368660T>C	-
NM_006947.4(SRP72):c.*637TA[11]	6731	SRP72	Uncertain significance	rs35852754	RCV000353198;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368662	57368663	C	CATATAT	4:g.57368662_57368663insATATAT	ClinGen:CA10617988	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*635C>T	6731	SRP72	Uncertain significance	rs200981113	RCV000260891;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368662	57368662	C	T	4:g.57368662C>T	ClinGen:CA10618934	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*637TA[9]	6731	SRP72	Uncertain significance	rs35852754	RCV000300710;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368662	57368663	C	CAT	4:g.57368662_57368663insAT	ClinGen:CA10621344	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*637TA[7]	6731	SRP72	Uncertain significance	rs35852754	RCV000313798;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368663	57368664	CAT	C	4:g.57368663_57368664del	ClinGen:CA10618935	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*732A>G	6731	SRP72	Benign	rs14211	RCV000370673;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368759	57368759	A	G	NC_000004.11:g.57368759A>G	ClinGen:CA10617990	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*780C>T	6731	SRP72	Benign	rs10518	RCV000273854;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368807	57368807	C	T	NC_000004.11:g.57368807C>T	ClinGen:CA10618936	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*839T>C	6731	SRP72	Uncertain significance	rs757066668	RCV000330791;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368866	57368866	T	C	NC_000004.11:g.57368866T>C	ClinGen:CA10617993	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*972G>A	6731	SRP72	Benign	rs189886380	RCV000382993;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57368999	57368999	G	A	NC_000004.11:g.57368999G>A	ClinGen:CA10621349	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.1227_1232del	6731	SRP72	Uncertain significance	rs886059502	RCV000272257;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57369251	57369256	TTGACTC	T	NC_000004.11:g.57369254_57369259del	ClinGen:CA10621316	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*1241C>T	6731	SRP72	Uncertain significance	rs1282273094	RCV001157665;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57369268	57369268	C	T	4:g.57369268C>T	-
NM_006947.4(SRP72):c.*1313C>G	6731	SRP72	Benign	rs113719942	RCV000325037;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57369340	57369340	C	G	NC_000004.11:g.57369340C>G	ClinGen:CA10621350	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*1385A>G	6731	SRP72	Uncertain significance	rs754461786	RCV001157666;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57369412	57369412	A	G	4:g.57369412A>G	-
NM_006947.4(SRP72):c.*1478C>A	6731	SRP72	Uncertain significance	rs1405583789	RCV001157667;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57369505	57369505	C	A	4:g.57369505C>A	-
NM_006947.4(SRP72):c.*1483A>G	6731	SRP72	Uncertain significance	rs566533583	RCV001157668;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57369510	57369510	A	G	4:g.57369510A>G	-
NM_006947.4(SRP72):c.*1603A>G	6731	SRP72	Benign	rs1142851	RCV000382011;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57369630	57369630	A	G	NC_000004.11:g.57369630A>G	ClinGen:CA10617994	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*1678C>T	6731	SRP72	Uncertain significance	rs886059503	RCV000285487;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57369705	57369705	C	T	NC_000004.11:g.57369705C>T	ClinGen:CA10618940	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*1764A>G	6731	SRP72	Uncertain significance	rs192226722	RCV000342768;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57369791	57369791	A	G	NC_000004.11:g.57369791A>G	ClinGen:CA10617995	C3808553 614675 Bone marrow failure syndrome 1;
NM_006947.4(SRP72):c.*1769T>G	6731	SRP72	Uncertain significance	rs886059504	RCV000376371;	N	MONDO:MONDO:0013851,MedGen:C3808553,OMIM:614675, Orphanet:314399	4	57369796	57369796	T	G	NC_000004.11:g.57369796T>G	ClinGen:CA10618941	C3808553 614675 Bone marrow failure syndrome 1;

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